C0268296[trait identifier] AND "Illumina Laboratory Services, Illumina - ClinVar

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

Search results

Items: 28

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 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 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 913468	NM_000197.2(HSD17B3):c.641A>G (p.Glu214Gly)	SLC35D2-HSD17B3, HSD17B3 (E214G)	Single nucleotide variant (missense variant)	Testosterone 17-beta-dehydrogenase deficiency +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 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 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 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 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 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 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 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 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 208587	NM_000197.2(HSD17B3):c.277+4A>T	HSD17B3, SLC35D2-HSD17B3	Single nucleotide variant (intron variant)	Testosterone 17-beta-dehydrogenase deficiency +3 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 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 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 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 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 367685	NM_000197.2(HSD17B3):c.9C>T (p.Asp3=)	SLC35D2-HSD17B3, HSD17B3	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
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 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 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 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 255507	NM_000197.2(HSD17B3):c.-39A>G	HSD17B3, SLC35D2-HSD17B3	Single nucleotide variant (5 prime UTR variant)	not specified +2 more	GBenign

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 28