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	Pathogenic	Breast adenocarcinoma Non-small cell lung carcinoma Juvenile myelomonocytic leukemia Autoimmune lymphoproliferative syndrome type 4 OCULOECTODERMAL SYNDROME, SOMATIC Condition: not provided Inborn genetic diseases Nevus sebaceous Noonan syndrome and Noonan-related syndrome Encephalocraniocutaneous lipomatosis RASopathy Neoplasm KRAS-related disorder Familial pancreatic carcinoma	Criteria Provided Multiple Submitters No Conflicts	CA122534	rs_112445441	15 SubmittersRCV000013409 RCV000038269 RCV000144967 RCV000144968 RCV000791297 RCV001092389 RCV001266168 RCV001526657 RCV001813183 RCV001839444 RCV001857340 RCV004668723 RCV004549358 RCV004813034
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 Endometrial hyperplasia without atypia Atypical endometrial hyperplasia Congenital Pulmonary Airway Malformations Neoplasm Cardiovascular phenotype 12 conditions KRAS-related overgrowth	Criteria Provided Multiple Submitters No Conflicts	CA122538	rs_121913529	25 SubmittersRCV000013411 RCV000022799 RCV000029214 RCV000029215 RCV000144969 RCV000144970 RCV000150896 RCV000150897 RCV000272938 RCV000433573 RCV000548006 RCV000585796 RCV000662266 RCV000856666 RCV001799604 RCV001839445 RCV002508117 RCV003327361 RCV004554600 RCV004668724 RCV004018620 RCV005007840 RCV005251035
NM_004985.5(KRAS):c.436G>A (p.Ala146Thr)	SNV Germline/somatic	Chr12:25225628	Conflicting classifications of pathogenicity	Condition: not provided OCULOECTODERMAL SYNDROME, SOMATIC Encephalocraniocutaneous lipomatosis Classic Hodgkin lymphoma RASopathy Cardiofaciocutaneous syndrome 2	Criteria Provided Conflicting Classifications	CA245262	rs_121913527	7 SubmittersRCV000178223 RCV000791298 RCV001839448 RCV002227934 RCV001852208 RCV004554743
NM_004985.5(KRAS):c.57G>C (p.Leu19Phe)	SNV Germline/somatic	Chr12:25245328	Pathogenic	RASopathy OCULOECTODERMAL SYNDROME, SOMATIC Encephalocraniocutaneous lipomatosis	Criteria Provided Single Submitter	CA210356	rs_121913538	3 SubmittersRCV003654222 RCV000201922 RCV001839449
NM_023110.3(FGFR1):c.1638C>A (p.Asn546Lys)	SNV Somatic	Chr8:38417331	Pathogenic	Encephalocraniocutaneous lipomatosis Rosette-forming glioneuronal tumor Neoplasm	Criteria Provided Multiple Submitters No Conflicts	CA357830	rs_779707422	7 SubmittersRCV000210485 RCV000487433 RCV004668850
NM_023110.3(FGFR1):c.1966A>G (p.Lys656Glu)	SNV Germline/somatic	Chr8:38414790	Conflicting classifications of pathogenicity	Encephalocraniocutaneous lipomatosis Pilomyxoid astrocytoma	No Assertion Criteria Provided	CA358862	rs_869320694	5 SubmittersRCV000210479 RCV001849345
NM_004985.5(KRAS):c.437C>T (p.Ala146Val)	SNV Germline/somatic	Chr12:25225627	Conflicting classifications of pathogenicity	OCULOECTODERMAL SYNDROME, SOMATIC RASopathy Encephalocraniocutaneous lipomatosis Malignant tumor of urinary bladder Condition: not provided Familial pancreatic carcinoma	Criteria Provided Conflicting Classifications	CA16602440	rs_1057519725	6 SubmittersRCV000791299 RCV002524688 RCV001839452 RCV003332167 RCV003488585 RCV004760489
NM_033360.4(KRAS):c.351A>C (p.Lys117Asn)	SNV Germline	Chr12:25225713	Pathogenic	Condition: not provided Encephalocraniocutaneous lipomatosis Colorectal cancer	Criteria Provided Multiple Submitters No Conflicts	CA6486888	rs_770248150	3 SubmittersRCV001200581 RCV001731671 RCV005603620
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