ClinVar for MedGen (Select 925) - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Links from MedGen

Items: 16

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2506541	GRCh37/hg19 18q21.31-21.32(chr18:55020078-56892966)	GRP, MALT1 +10 more	Copy number loss	Cholestasis	GPathogenic
Select item 1683718	NM_024426.6(WT1):c.1321G>C (p.Asp441His)	WT1 (D207H +10 more)	Single nucleotide variant (missense variant +1 more)	Gonadal tissue inappropriate for external genitalia or chromosomal sex +2 more	GUncertain significance
Select item 804474	NM_178859.4(SLC51B):c.84del (p.Arg29fs)	RASL12, SLC51B (R29fs)	Deletion (frameshift variant)	Cholestasis +1 more	GLikely pathogenic
Select item 774611	NM_001966.4(EHHADH):c.910+7C>A	EHHADH	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 694481	NM_001371395.1(USP53):c.1558C>T (p.Arg520Ter)	USP53 (R469* +4 more)	Single nucleotide variant (nonsense)	Cholestasis, progressive familial intrahepatic, 7, with or without hearing loss +1 more	GPathogenic
Select item 694480	NM_001371395.1(USP53):c.1426C>T (p.Arg476Ter)	USP53 (R425* +4 more)	Single nucleotide variant (nonsense)	Cholestasis	GPathogenic
Select item 694479	NM_001371395.1(USP53):c.878G>T (p.Gly293Val)	USP53 (G293V +1 more)	Single nucleotide variant (missense variant +1 more)	Cholestasis	GLikely pathogenic
Select item 694478	NM_001371395.1(USP53):c.834_835dup (p.Val279fs)	USP53 (V279fs)	Microsatellite (frameshift variant)	Cholestasis	GPathogenic
Select item 694477	NM_001371395.1(USP53):c.583del (p.Arg195fs)	USP53 (R195fs +1 more)	Deletion (frameshift variant)	Cholestasis	GPathogenic
Select item 694476	NM_001371395.1(USP53):c.569+2T>C	USP53	Single nucleotide variant (splice donor variant)	Cholestasis	GPathogenic
Select item 694475	NM_001371395.1(USP53):c.395A>G (p.His132Arg)	USP53 (H132R +1 more)	Single nucleotide variant (missense variant)	Cholestasis	GLikely pathogenic
Select item 694474	NM_001371395.1(USP53):c.297G>T (p.Arg99Ser)	USP53 (R99S)	Single nucleotide variant (missense variant +1 more)	Cholestasis	GPathogenic
Select item 694473	NM_001371395.1(USP53):c.169C>T (p.Arg57Ter)	USP53 (R57*)	Single nucleotide variant (nonsense +1 more)	Cholestasis	GPathogenic
Select item 694273	NM_001371395.1(USP53):c.1012C>T (p.Arg338Ter)	USP53 (R338* +2 more)	Single nucleotide variant (nonsense)	Cholestasis, progressive familial intrahepatic, 7, with or without hearing loss +2 more	GPathogenic
Select item 617621	NM_003049.4(SLC10A1):c.[601_611del;745C>T]	SLC10A1 (R249W +1 more)	Single nucleotide variant (missense variant +1 more)	Hepatic fibrosis +3 more	GUncertain significance
Select item 167373	NM_015102.5(NPHP4):c.2882G>A (p.Arg961His)	NPHP4 (R961H +2 more)	Single nucleotide variant (missense variant +1 more)	Nephronophthisis +6 more	GConflicting classifications of pathogenicity