Total 10 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	Conflicting classifications of pathogenicity	Breast adenocarcinoma Non-small cell lung carcinoma Juvenile myelomonocytic leukemia Autoimmune lymphoproliferative syndrome type 4 Acute myeloid leukemia Neoplasm of the large intestine Neoplasm of ovary Thyroid tumor Condition: not provided Inborn genetic diseases Nevus sebaceous OCULOECTODERMAL SYNDROME, SOMATIC Noonan syndrome and Noonan-related syndrome Encephalocraniocutaneous lipomatosis RASopathy KRAS-related disorder	Criteria Provided Conflicting Classifications	CA122534	rs_112445441	14 SubmittersRCV000013409 RCV000038269 RCV000144967 RCV000144968 RCV000431806 RCV000421576 RCV000444192 RCV000427102 RCV001092389 RCV001266168 RCV001526657 RCV000791297 RCV001813183 RCV001839444 RCV001857340 RCV004549358
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 Neoplasm of ovary Condition: not provided Acute myeloid leukemia Lung carcinoma Thyroid tumor RASopathy Cerebral arteriovenous malformation Vascular Tumors Including Pyogenic Granuloma Neoplasm of the large intestine Primary low grade serous adenocarcinoma of ovary Encephalocraniocutaneous lipomatosis Capillary malformation-arteriovenous malformation 1 Congenital Pulmonary Airway Malformations Gastric cancer Atypical endometrial hyperplasia Endometrial hyperplasia without atypia Cardiovascular phenotype	Criteria Provided Multiple Submitters No Conflicts	CA122538	rs_121913529	22 SubmittersRCV000013411 RCV000022799 RCV000029214 RCV000029215 RCV000144969 RCV000144970 RCV000150896 RCV000150897 RCV000272938 RCV000433573 RCV000425250 RCV000443973 RCV000548006 RCV000585796 RCV000662266 RCV000426369 RCV000856666 RCV001839445 RCV001799604 RCV004554600 RCV002508117 RCV003327361 RCV004018620
NM_004985.5(KRAS):c.436G>A (p.Ala146Thr)	SNV Germline/somatic	Chr12:25225628	Conflicting classifications of pathogenicity	Condition: not provided Neoplasm of the large intestine OCULOECTODERMAL SYNDROME, SOMATIC RASopathy Encephalocraniocutaneous lipomatosis Classic Hodgkin lymphoma Cardiofaciocutaneous syndrome 2	Criteria Provided Conflicting Classifications	CA245262	rs_121913527	8 SubmittersRCV000178223 RCV000426420 RCV000791298 RCV001852208 RCV001839448 RCV002227934 RCV004554743
NM_004985.5(KRAS):c.57G>C (p.Leu19Phe)	SNV Germline/somatic	Chr12:25245328	Pathogenic	OCULOECTODERMAL SYNDROME, SOMATIC Angiosarcoma Encephalocraniocutaneous lipomatosis RASopathy	Criteria Provided Single Submitter	CA210356	rs_121913538	4 SubmittersRCV000201922 RCV000441871 RCV001839449 RCV003654222
NM_023110.3(FGFR1):c.1638C>A (p.Asn546Lys)	SNV Somatic	Chr8:38417331	Pathogenic	Encephalocraniocutaneous lipomatosis Gastric adenocarcinoma Neuroblastoma Brainstem glioma Medulloblastoma Astrocytoma Rosette-forming glioneuronal tumor	Criteria Provided Multiple Submitters No Conflicts	CA357830	rs_779707422	6 SubmittersRCV000210485 RCV000422315 RCV000428878 RCV000429528 RCV000439566 RCV000440238 RCV000487433
NM_023110.3(FGFR1):c.1966A>G (p.Lys656Glu)	SNV Somatic	Chr8:38414790	Conflicting classifications of pathogenicity	Encephalocraniocutaneous lipomatosis Lymphoblastic leukemia, acute, with lymphomatous features Glioblastoma Astrocytoma Hepatocellular carcinoma Medulloblastoma Transitional cell carcinoma of the bladder Pilomyxoid astrocytoma	No Assertion Criteria Provided	CA358862	rs_869320694	5 SubmittersRCV000210479 RCV000420790 RCV000420160 RCV000430840 RCV000438709 RCV000441552 RCV000428027 RCV001849345
NM_004985.5(KRAS):c.437C>T (p.Ala146Val)	SNV Germline/somatic	Chr12:25225627	Conflicting classifications of pathogenicity	Non-small cell lung carcinoma Thyroid tumor Neoplasm of the large intestine OCULOECTODERMAL SYNDROME, SOMATIC Encephalocraniocutaneous lipomatosis RASopathy Malignant tumor of urinary bladder Condition: not provided	Criteria Provided Conflicting Classifications	CA16602440	rs_1057519725	6 SubmittersRCV000423608 RCV000434735 RCV000441300 RCV000791299 RCV001839452 RCV002524688 RCV003332167 RCV003488585
NM_033360.4(KRAS):c.351A>C (p.Lys117Asn)	SNV Germline/somatic	Chr12:25225713	Pathogenic	Carcinoma of esophagus Neoplasm of the large intestine Malignant melanoma of skin Multiple myeloma Hepatocellular carcinoma Gastric adenocarcinoma Condition: not provided Encephalocraniocutaneous lipomatosis	Criteria Provided Single Submitter	CA6486888	rs_770248150	3 SubmittersRCV000425803 RCV000425583 RCV000435219 RCV000435839 RCV000442858 RCV000443670 RCV001200581 RCV001731671
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		rs_779223305	2 SubmittersRCV001198090 RCV003770214