Total 11 pathogenic variants reported for Encephalocraniocutaneous lipomatosis

Variant Name	Variant Type	Variant Genomic Location	Clinical Significance	Phenotype Condition	Review Status	ClinGen Allele	dbSNP ID	Variation/condition record
NM_004985.5(KRAS):c.38G>A (p.Gly13Asp)	SNV Germline/somatic	Chr12:25245347	Pathogenic	Breast adenocarcinoma Non-small cell lung carcinoma Juvenile myelomonocytic leukemia Autoimmune lymphoproliferative syndrome type 4 OCULOECTODERMAL SYNDROME, SOMATIC Condition: not provided Nevus sebaceous Inborn genetic diseases Noonan syndrome and Noonan-related syndrome RASopathy Encephalocraniocutaneous lipomatosis Neoplasm Familial pancreatic carcinoma KRAS-related disorder Colorectal cancer Melanoma Acute myeloid leukemia Malignant tumor of urinary bladder Cervical cancer Adenocarcinoma of the large intestine Embryonal rhabdomyosarcoma Diffuse midline glioma, H3 K27M-mutant	Criteria Provided Multiple Submitters No Conflicts	CA122534	rs_112445441	18 SubmittersRCV000013409 RCV000038269 RCV000144967 RCV000144968 RCV000791297 RCV001092389 RCV001526657 RCV001266168 RCV001813183 RCV001857340 RCV001839444 RCV004668723 RCV004813034 RCV004549358 RCV005887482 RCV005887483 RCV005887479 RCV005887480 RCV005887481 RCV006253517 RCV006253515 RCV006253516
NM_004985.5(KRAS):c.35G>A (p.Gly12Asp)	SNV Germline/somatic	Chr12:25245350	Pathogenic/Likely pathogenic	Carcinoma of pancreas Epidermal nevus Nevus sebaceous Linear nevus sebaceous syndrome Juvenile myelomonocytic leukemia Autoimmune lymphoproliferative syndrome type 4 Non-small cell lung carcinoma Ovarian neoplasm Condition: not provided Acute myeloid leukemia RASopathy Cerebral arteriovenous malformation Vascular Tumors Including Pyogenic Granuloma Primary low grade serous adenocarcinoma of ovary Capillary malformation-arteriovenous malformation 1 Encephalocraniocutaneous lipomatosis Gastric cancer Atypical endometrial hyperplasia Endometrial hyperplasia without atypia Cardiovascular phenotype Congenital Pulmonary Airway Malformations Neoplasm 12 conditions Adenocarcinoma of the large intestine Ovarian mucinous adenocarcinoma Precursor B-cell acute lymphoblastic leukemia Diffuse midline glioma, H3 K27M-mutant Embryonal rhabdomyosarcoma Papillary thyroid carcinoma Alveolar rhabdomyosarcoma Diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype Colorectal cancer Medulloblastoma non-WNT/non-SHH Glioma	Criteria Provided Multiple Submitters No Conflicts	CA122538	rs_121913529	27 SubmittersRCV000013411 RCV000022799 RCV000029214 RCV000029215 RCV000144969 RCV000144970 RCV000150896 RCV000150897 RCV000272938 RCV000433573 RCV000548006 RCV000585796 RCV000662266 RCV000856666 RCV001799604 RCV001839445 RCV002508117 RCV003327361 RCV004018620 RCV004554600 RCV004668724 RCV005007840 RCV006253525 RCV006253527 RCV006253518 RCV006253524 RCV006253522 RCV006253519 RCV006253520 RCV006253523 RCV006250158 RCV006253526 RCV006253521
NM_004985.5(KRAS):c.436G>A (p.Ala146Thr)	SNV Germline/somatic	Chr12:25225628	Conflicting classifications of pathogenicity	Condition: not provided OCULOECTODERMAL SYNDROME, SOMATIC RASopathy Encephalocraniocutaneous lipomatosis Classic Hodgkin lymphoma Germinoma Cardiofaciocutaneous syndrome 2 Vascular malformation Adenocarcinoma of the large intestine	Criteria Provided Conflicting Classifications	CA245262	rs_121913527	9 SubmittersRCV000178223 RCV000791298 RCV001852208 RCV001839448 RCV002227934 RCV006253870 RCV004554743 RCV005863020 RCV006253871
NM_004985.5(KRAS):c.57G>C (p.Leu19Phe)	SNV Germline/somatic	Chr12:25245328	Pathogenic	OCULOECTODERMAL SYNDROME, SOMATIC Encephalocraniocutaneous lipomatosis RASopathy	Criteria Provided Single Submitter	CA210356	rs_121913538	3 SubmittersRCV000201922 RCV001839449 RCV003654222
NM_023110.3(FGFR1):c.1638C>A (p.Asn546Lys)	SNV Somatic	Chr8:38417331	Pathogenic	Encephalocraniocutaneous lipomatosis Rosette-forming glioneuronal tumor Neoplasm Dysembryoplastic neuroepithelial tumor Embryonal rhabdomyosarcoma Neuroblastoma Diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype Primary intracranial sarcoma, DICER1-mutant Diffuse midline glioma, H3 K27M-mutant	Criteria Provided Multiple Submitters No Conflicts	CA357830	rs_779707422	8 SubmittersRCV000210485 RCV000487433 RCV004668850 RCV006253901 RCV006253897 RCV006253896 RCV006253898 RCV006253900 RCV006253899
NM_023110.3(FGFR1):c.1966A>G (p.Lys656Glu)	SNV Germline/somatic	Chr8:38414790	Pathogenic	Encephalocraniocutaneous lipomatosis Pilomyxoid astrocytoma Pilocytic astrocytoma Diffuse midline glioma, H3 K27M-mutant Neoplasm Dysembryoplastic neuroepithelial tumor Rosette-forming glioneuronal tumor Low grade glioma Malignant glioma High-grade astrocytoma with piloid features	Criteria Provided Single Submitter	CA358862	rs_869320694	7 SubmittersRCV000210479 RCV001849345 RCV006253902 RCV006253907 RCV006273640 RCV006253908 RCV006253903 RCV006253904 RCV006253905 RCV006253906
NM_004985.5(KRAS):c.437C>T (p.Ala146Val)	SNV Germline/somatic	Chr12:25225627	Pathogenic/Likely pathogenic	OCULOECTODERMAL SYNDROME, SOMATIC Encephalocraniocutaneous lipomatosis Condition: not provided RASopathy Malignant tumor of urinary bladder Familial pancreatic carcinoma	Criteria Provided Multiple Submitters No Conflicts	CA16602440	rs_1057519725	6 SubmittersRCV000791299 RCV001839452 RCV003488585 RCV002524688 RCV003332167 RCV004760489
NM_033360.4(KRAS):c.351A>C (p.Lys117Asn)	SNV Germline/somatic	Chr12:25225713	Pathogenic	Condition: not provided Encephalocraniocutaneous lipomatosis Colorectal cancer Primary intracranial sarcoma, DICER1-mutant Embryonal rhabdomyosarcoma	Criteria Provided Multiple Submitters No Conflicts	CA6486888	rs_770248150	4 SubmittersRCV001200581 RCV001731671 RCV005603620 RCV006253963 RCV006253962
NM_023110.3(FGFR1):c.2464C>T (p.Arg822Cys)	SNV Germline	Chr8:38413633	Conflicting classifications of pathogenicity	Condition: not provided Trigonocephaly 1 Craniosynostosis syndrome Hypogonadotropic hypogonadism 2 with or without anosmia Osteoglophonic dysplasia Hypogonadotropic hypogonadism 2 with or without anosmia Pfeiffer syndrome FGFR1-related disorder Encephalocraniocutaneous lipomatosis Pfeiffer syndrome	Criteria Provided Conflicting Classifications	CA4718065	rs_17182463	6 SubmittersRCV000644522 RCV001159834 RCV001159835 RCV001159836 RCV001159837 RCV002060753 RCV004533371 RCV005863232
NM_023110.3(FGFR1):c.937-14G>A	SNV Germline	Chr8:38421955	Conflicting classifications of pathogenicity	Encephalocraniocutaneous lipomatosis Pfeiffer syndrome Hypogonadotropic hypogonadism 2 with or without anosmia	Criteria Provided Conflicting Classifications	CA4718555	rs_779223305	2 SubmittersRCV001198090 RCV003770214