ClinVar for MedGen (Select 335883) - ClinVar

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Items: 23

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3580269	NM_025193.4(HSD3B7):c.551del (p.Leu184fs)	HSD3B7 (L184fs)	Deletion (frameshift variant +1 more)	Congenital bile acid synthesis defect 1	GLikely pathogenic
Select item 3580268	NM_025193.4(HSD3B7):c.323-1G>A	HSD3B7	Single nucleotide variant (splice acceptor variant)	Congenital bile acid synthesis defect 1	GLikely pathogenic
Select item 2671755	NM_025193.4(HSD3B7):c.431+2T>C	HSD3B7	Single nucleotide variant (splice donor variant)	Congenital bile acid synthesis defect 1	GLikely pathogenic
Select item 2628801	NM_025193.4(HSD3B7):c.1025del (p.Phe342fs)	HSD3B7 (F342fs)	Deletion (3 prime UTR variant +1 more)	HSD3B7-related disorder +2 more	GLikely pathogenic
Select item 2585402	NM_025193.4(HSD3B7):c.205C>T (p.Gln69Ter)	HSD3B7 (Q69*)	Single nucleotide variant (nonsense)	Congenital bile acid synthesis defect 1	GLikely pathogenic
Select item 2582473	NM_025193.4(HSD3B7):c.569G>A (p.Arg190His)	HSD3B7 (R190H)	Single nucleotide variant (missense variant +1 more)	Congenital bile acid synthesis defect 1	GUncertain significance
Select item 2582472	NM_025193.4(HSD3B7):c.968C>T (p.Thr323Met)	HSD3B7 (T323M)	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital bile acid synthesis defect 1	GUncertain significance
Select item 2432539	NM_025193.4(HSD3B7):c.143C>G (p.Pro48Arg)	HSD3B7 (P48R)	Single nucleotide variant (missense variant)	Congenital bile acid synthesis defect 1	GUncertain significance
Select item 1687377	NM_025193.4(HSD3B7):c.682C>T (p.Arg228Trp)	HSD3B7 (R228W)	Single nucleotide variant (missense variant +1 more)	Congenital bile acid synthesis defect 1 +1 more	GConflicting classifications of pathogenicity
Select item 1342314	NM_025193.4(HSD3B7):c.1031A>G (p.Tyr344Cys)	HSD3B7 (Y344C)	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital bile acid synthesis defect 1	GUncertain significance
Select item 1339161	NM_025193.4(HSD3B7):c.689A>G (p.Tyr230Cys)	HSD3B7 (Y230C)	Single nucleotide variant (missense variant +1 more)	Congenital bile acid synthesis defect 1	GUncertain significance
Select item 1030915	NM_025193.4(HSD3B7):c.557C>T (p.Thr186Met)	HSD3B7 (T186M)	Single nucleotide variant (missense variant +1 more)	Congenital bile acid synthesis defect 1	GUncertain significance
Select item 1030914	NM_025193.4(HSD3B7):c.499G>T (p.Glu167Ter)	HSD3B7 (E167*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 598247	NM_025193.4(HSD3B7):c.558G>A (p.Thr186=)	HSD3B7	Single nucleotide variant (synonymous variant +1 more)	Congenital bile acid synthesis defect 1 +1 more	GConflicting classifications of pathogenicity
Select item 290373	NM_025193.4(HSD3B7):c.586G>A (p.Gly196Ser)	HSD3B7 (G196S)	Single nucleotide variant (missense variant +1 more)	Congenital bile acid synthesis defect 1 +1 more	GUncertain significance
Select item 261873	NM_025193.4(HSD3B7):c.748A>G (p.Thr250Ala)	HSD3B7 (T250A)	Single nucleotide variant (synonymous variant +1 more)	not specified +2 more	GBenign
Select item 261870	NM_025193.4(HSD3B7):c.1068T>C (p.Arg356=)	HSD3B7	Single nucleotide variant (3 prime UTR variant +1 more)	not specified +2 more	GBenign
Select item 191290	NM_025193.4(HSD3B7):c.694+2del	HSD3B7	Deletion (intron variant +1 more)	Congenital bile acid synthesis defect 1	GPathogenic
Select item 2885	NM_025193.4(HSD3B7):c.45_46del (p.Gly17fs)	HSD3B7 (G17fs)	Deletion (frameshift variant)	Congenital bile acid synthesis defect +2 more	GPathogenic
Select item 2884	NM_025193.4(HSD3B7):c.439G>A (p.Glu147Lys)	HSD3B7 (E147K)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 2883	NM_025193.4(HSD3B7):c.322+1G>T	HSD3B7	Single nucleotide variant (splice donor variant)	Congenital bile acid synthesis defect 1	GLikely pathogenic
Select item 2882	NM_025193.4(HSD3B7):c.294dup (p.Lys99fs)	HSD3B7 (K99fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 2881	NM_025193.4(HSD3B7):c.1039_1040del (p.Leu347fs)	HSD3B7 (L347fs)	Deletion (3 prime UTR variant +1 more)	Congenital bile acid synthesis defect 1	GPathogenic

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Items: 23