ClinVar for MedGen (Select 120626) - ClinVar

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Items: 60

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3064921	NM_000197.2(HSD17B3):c.16del (p.Glu6fs)	HSD17B3, SLC35D2-HSD17B3 (E6fs)	Deletion (non-coding transcript variant +1 more)	Testosterone 17-beta-dehydrogenase deficiency	GUncertain significance
Select item 3062275	NM_000197.2(HSD17B3):c.111_118del (p.Lys37fs)	HSD17B3, SLC35D2-HSD17B3 (K37fs)	Deletion (non-coding transcript variant +1 more)	Testosterone 17-beta-dehydrogenase deficiency	GLikely pathogenic
Select item 2690623	NM_000197.2(HSD17B3):c.252del (p.Lys84fs)	HSD17B3, SLC35D2-HSD17B3 (K84fs)	Deletion (non-coding transcript variant +1 more)	Testosterone 17-beta-dehydrogenase deficiency	GLikely pathogenic
Select item 2674669	NM_000197.2(HSD17B3):c.673G>A (p.Val225Met)	HSD17B3 (V225M)	Single nucleotide variant (non-coding transcript variant +1 more)	Testosterone 17-beta-dehydrogenase deficiency +1 more	GPathogenic/Likely pathogenic
Select item 2674667	NM_000197.2(HSD17B3):c.590T>A (p.Met197Lys)	HSD17B3 (M197K)	Single nucleotide variant (non-coding transcript variant +1 more)	Testosterone 17-beta-dehydrogenase deficiency	GLikely pathogenic
Select item 2674666	NM_000197.2(HSD17B3):c.277+5G>A	HSD17B3	Single nucleotide variant (intron variant)	Testosterone 17-beta-dehydrogenase deficiency	GLikely pathogenic
Select item 2674665	NM_000197.2(HSD17B3):c.203T>G (p.Leu68Arg)	HSD17B3 (L68R)	Single nucleotide variant (non-coding transcript variant +1 more)	Testosterone 17-beta-dehydrogenase deficiency	GPathogenic
Select item 2674664	NM_000197.2(HSD17B3):c.201+1G>A	HSD17B3	Single nucleotide variant (splice donor variant)	Testosterone 17-beta-dehydrogenase deficiency +1 more	GPathogenic/Likely pathogenic
Select item 2674663	NM_000197.2(HSD17B3):c.1A>G (p.Met1Val)	HSD17B3 (M1V)	Single nucleotide variant (non-coding transcript variant +2 more)	Testosterone 17-beta-dehydrogenase deficiency	GLikely pathogenic
Select item 2577238	NM_000197.2(HSD17B3):c.277G>A (p.Glu93Lys)	HSD17B3, SLC35D2-HSD17B3 (E93K)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 more	GPathogenic
Select item 2572409	NM_000197.2(HSD17B3):c.376G>A (p.Gly126Arg)	SLC35D2-HSD17B3, HSD17B3 (G126R)	Single nucleotide variant (non-coding transcript variant +1 more)	Testosterone 17-beta-dehydrogenase deficiency	GUncertain significance
Select item 2444246	NM_000197.2(HSD17B3):c.257_265del (p.Glu86_Ile88del)	HSD17B3, SLC35D2-HSD17B3	Deletion (inframe_deletion)	Testosterone 17-beta-dehydrogenase deficiency	GUncertain significance
Select item 2440782	NM_000197.2(HSD17B3):c.65dup (p.Lys23fs)	HSD17B3, SLC35D2-HSD17B3 (K23fs)	Duplication (frameshift variant)	Testosterone 17-beta-dehydrogenase deficiency	GLikely pathogenic
Select item 2440772	NM_000197.2(HSD17B3):c.645A>T (p.Glu215Asp)	HSD17B3, SLC35D2-HSD17B3 (E215D)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 2432537	NM_000197.2(HSD17B3):c.709A>G (p.Lys237Glu)	HSD17B3, SLC35D2-HSD17B3 (K237E)	Single nucleotide variant (missense variant)	Testosterone 17-beta-dehydrogenase deficiency	GUncertain significance
Select item 2200699	NM_000197.2(HSD17B3):c.729_735del (p.Ile244fs)	HSD17B3, SLC35D2-HSD17B3 (I244fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic
Select item 2136797	NM_000197.2(HSD17B3):c.139A>G (p.Met47Val)	HSD17B3, SLC35D2-HSD17B3 (M47V)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1341696	NM_000197.2(HSD17B3):c.385+5G>A	HSD17B3, SLC35D2-HSD17B3	Single nucleotide variant (intron variant)	Testosterone 17-beta-dehydrogenase deficiency	GUncertain significance
Select item 913850	NM_000197.2(HSD17B3):c.278-6G>C	HSD17B3, SLC35D2-HSD17B3	Single nucleotide variant (intron variant)	Testosterone 17-beta-dehydrogenase deficiency	GUncertain significance
Select item 913849	NM_000197.2(HSD17B3):c.328G>T (p.Asp110Tyr)	HSD17B3, SLC35D2-HSD17B3 (D110Y)	Single nucleotide variant (missense variant)	Testosterone 17-beta-dehydrogenase deficiency	GUncertain significance
Select item 913473	NM_000197.2(HSD17B3):c.386-5G>A	HSD17B3, SLC35D2-HSD17B3	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 913472	NM_000197.2(HSD17B3):c.435C>T (p.Asn145=)	HSD17B3, SLC35D2-HSD17B3	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 913471	NM_000197.2(HSD17B3):c.441G>A (p.Pro147=)	HSD17B3, SLC35D2-HSD17B3	Single nucleotide variant (synonymous variant)	Testosterone 17-beta-dehydrogenase deficiency +1 more	GConflicting classifications of pathogenicity
Select item 913470	NM_000197.2(HSD17B3):c.490-4G>T	HSD17B3, HSD17B3-AS1 +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 913469	NM_000197.2(HSD17B3):c.540C>T (p.Ile180=)	HSD17B3, SLC35D2-HSD17B3	Single nucleotide variant (synonymous variant)	Testosterone 17-beta-dehydrogenase deficiency	GUncertain significance
Select item 913468	NM_000197.2(HSD17B3):c.641A>G (p.Glu214Gly)	HSD17B3, SLC35D2-HSD17B3 (E214G)	Single nucleotide variant (missense variant)	Testosterone 17-beta-dehydrogenase deficiency +1 more	GConflicting classifications of pathogenicity
Select item 913467	NM_000197.2(HSD17B3):c.663C>T (p.Val221=)	HSD17B3, SLC35D2-HSD17B3	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 912336	NM_000197.2(HSD17B3):c.*1C>T	HSD17B3, SLC35D2-HSD17B3	Single nucleotide variant (3 prime UTR variant)	Testosterone 17-beta-dehydrogenase deficiency	GUncertain significance
Select item 912335	NM_000197.2(HSD17B3):c.*148C>A	HSD17B3, SLC35D2-HSD17B3	Single nucleotide variant (3 prime UTR variant)	Testosterone 17-beta-dehydrogenase deficiency	GUncertain significance
Select item 720400	NM_000197.2(HSD17B3):c.804C>T (p.Cys268=)	HSD17B3, SLC35D2-HSD17B3	Single nucleotide variant (synonymous variant)	Testosterone 17-beta-dehydrogenase deficiency +1 more	GBenign/Likely benign
Select item 708567	NM_000197.2(HSD17B3):c.133C>T (p.Arg45Trp)	HSD17B3, SLC35D2-HSD17B3 (R45W)	Single nucleotide variant (missense variant)	Testosterone 17-beta-dehydrogenase deficiency +3 more	GConflicting classifications of pathogenicity
Select item 492761	NM_000197.2(HSD17B3):c.278-1G>C	HSD17B3, SLC35D2-HSD17B3	Single nucleotide variant (splice acceptor variant)	Inborn genetic diseases +2 more	GPathogenic
Select item 488878	NM_000197.2(HSD17B3):c.202-1G>A	HSD17B3, SLC35D2-HSD17B3	Single nucleotide variant (splice acceptor variant)	not provided +1 more	GPathogenic
Select item 435473	NM_000197.2(HSD17B3):c.221A>C (p.Asn74Thr)	HSD17B3, SLC35D2-HSD17B3 (N74T)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 435472	NM_000197.2(HSD17B3):c.599C>T (p.Ala200Val)	HSD17B3, SLC35D2-HSD17B3 (A200V)	Single nucleotide variant (missense variant)	Testosterone 17-beta-dehydrogenase deficiency +1 more	GConflicting classifications of pathogenicity
Select item 424781	NM_000197.1(HSD17B3):c.[194C>T];[239G>A]			Testosterone 17-beta-dehydrogenase deficiency	GLikely pathogenic
Select item 367689	NM_000197.2(HSD17B3):c.-34C>T	HSD17B3, SLC35D2-HSD17B3	Single nucleotide variant (5 prime UTR variant)	Testosterone 17-beta-dehydrogenase deficiency	GUncertain significance
Select item 367688	NM_000197.2(HSD17B3):c.-29A>G	HSD17B3, SLC35D2-HSD17B3	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GBenign
Select item 367687	NM_000197.2(HSD17B3):c.-10G>C	HSD17B3, SLC35D2-HSD17B3	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GBenign
Select item 367686	NM_000197.2(HSD17B3):c.-6G>A	HSD17B3, SLC35D2-HSD17B3	Single nucleotide variant (5 prime UTR variant)	Testosterone 17-beta-dehydrogenase deficiency	GUncertain significance
Select item 367685	NM_000197.2(HSD17B3):c.9C>T (p.Asp3=)	HSD17B3, SLC35D2-HSD17B3	Single nucleotide variant (synonymous variant)	Testosterone 17-beta-dehydrogenase deficiency +2 more	GConflicting classifications of pathogenicity
Select item 367684	NM_000197.2(HSD17B3):c.91G>A (p.Val31Ile)	HSD17B3, SLC35D2-HSD17B3 (V31I)	Single nucleotide variant (missense variant)	Testosterone 17-beta-dehydrogenase deficiency +1 more	GBenign
Select item 367683	NM_000197.2(HSD17B3):c.195G>A (p.Ser65=)	HSD17B3, SLC35D2-HSD17B3	Single nucleotide variant (synonymous variant)	Testosterone 17-beta-dehydrogenase deficiency +1 more	GBenign
Select item 367682	NM_000197.2(HSD17B3):c.199G>A (p.Glu67Lys)	HSD17B3, SLC35D2-HSD17B3 (E67K)	Single nucleotide variant (missense variant)	Testosterone 17-beta-dehydrogenase deficiency	GUncertain significance
Select item 367681	NM_000197.2(HSD17B3):c.333C>T (p.Asp111=)	HSD17B3, SLC35D2-HSD17B3	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 367680	NM_000197.2(HSD17B3):c.489+9T>C	HSD17B3, HSD17B3-AS1 +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 367679	NM_000197.2(HSD17B3):c.880C>T (p.Leu294=)	HSD17B3, SLC35D2-HSD17B3	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 255511	NM_000197.2(HSD17B3):c.865G>A (p.Gly289Ser)	HSD17B3, SLC35D2-HSD17B3 (G289S)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign/Likely benign
Select item 255507	NM_000197.2(HSD17B3):c.-39A>G	HSD17B3, SLC35D2-HSD17B3	Single nucleotide variant (5 prime UTR variant)	not specified +2 more	GBenign
Select item 242504	NM_000197.1(HSD17B3):c.194C>T	SLC35D2-HSD17B3, HSD17B3 (S65L)	Single nucleotide variant (missense variant)	Testosterone 17-beta-dehydrogenase deficiency	GLikely pathogenic
Select item 208587	NM_000197.2(HSD17B3):c.277+4A>T	HSD17B3, SLC35D2-HSD17B3	Single nucleotide variant (intron variant)	not provided +3 more	GPathogenic
Select item 4881	NM_000197.2(HSD17B3):c.803G>A (p.Cys268Tyr)	HSD17B3, SLC35D2-HSD17B3 (C268Y)	Single nucleotide variant (missense variant)	Testosterone 17-beta-dehydrogenase deficiency	GPathogenic
Select item 4880	NM_000197.2(HSD17B3):c.389A>G (p.Asn130Ser)	HSD17B3, SLC35D2-HSD17B3 (N130S)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 4879	NM_000197.2(HSD17B3):c.166G>A (p.Ala56Thr)	HSD17B3, SLC35D2-HSD17B3 (A56T)	Single nucleotide variant (missense variant)	Testosterone 17-beta-dehydrogenase deficiency	GLikely pathogenic
Select item 4878	NM_000197.2(HSD17B3):c.607-1G>A	HSD17B3, SLC35D2-HSD17B3	Single nucleotide variant (splice acceptor variant)	Testosterone 17-beta-dehydrogenase deficiency +1 more	GPathogenic
Select item 4877	NM_000197.2(HSD17B3):c.238C>T (p.Arg80Trp)	HSD17B3, SLC35D2-HSD17B3 (R80W)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 4875	NM_000197.2(HSD17B3):c.608C>T (p.Ala203Val)	HSD17B3, SLC35D2-HSD17B3 (A203V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GPathogenic
Select item 4874	NM_000197.2(HSD17B3):c.239G>A (p.Arg80Gln)	HSD17B3, SLC35D2-HSD17B3 (R80Q)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 4873	NM_000197.2(HSD17B3):c.703A>G (p.Met235Val)	HSD17B3, SLC35D2-HSD17B3 (M235V)	Single nucleotide variant (missense variant)	Testosterone 17-beta-dehydrogenase deficiency	GPathogenic
Select item 4872	NM_000197.2(HSD17B3):c.695C>T (p.Ser232Leu)	HSD17B3, SLC35D2-HSD17B3 (S232L)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic

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Items: 60