ClinVar for Gene (Select 10170) - ClinVar

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

Links from Gene

Items: 43

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3247528	NC_000002.11:g.(?_169780132)_(170218909_?)del	ABCB11, DHRS9 +1 more	Deletion	not provided	GPathogenic
Select item 3082135	NM_001376924.1(DHRS9):c.838C>A (p.His280Asn)	DHRS9 (H340N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3082134	NM_001376924.1(DHRS9):c.673G>A (p.Ala225Thr)	DHRS9 (A285T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3082133	NM_001376924.1(DHRS9):c.554G>T (p.Gly185Val)	DHRS9 (G245V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3082132	NM_001376924.1(DHRS9):c.511A>T (p.Ile171Phe)	DHRS9 (I171F +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3082131	NM_001376924.1(DHRS9):c.401T>C (p.Ile134Thr)	DHRS9 (I134T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3082130	NM_001376924.1(DHRS9):c.22C>T (p.Leu8Phe)	DHRS9 (L8F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062617	GRCh37/hg19 2q24.2-31.1(chr2:162692199-174452488)x1	ABCB11, B3GALT1 +57 more	Copy number loss	not specified	GPathogenic
Select item 2614600	NM_001376924.1(DHRS9):c.575G>A (p.Arg192Gln)	DHRS9 (R252Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2557932	NM_001376924.1(DHRS9):c.361C>T (p.Pro121Ser)	DHRS9 (P181S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2554752	NM_001376924.1(DHRS9):c.610A>G (p.Ile204Val)	DHRS9 (I204V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2543390	NM_001376924.1(DHRS9):c.863A>G (p.Lys288Arg)	DHRS9 (K288R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2533925	NM_001376924.1(DHRS9):c.502C>T (p.Arg168Cys)	DHRS9 (R168C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2523846	NM_001376924.1(DHRS9):c.823C>T (p.Leu275Phe)	DHRS9 (L275F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2508238	NM_001376924.1(DHRS9):c.670C>T (p.Leu224Phe)	DHRS9 (L284F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2425146	NC_000002.11:g.(?_169853125)_(170344644_?)dup	ABCB11, BBS5 +2 more	Duplication	Bardet-Biedl syndrome	GUncertain significance
Select item 2409669	NM_001376924.1(DHRS9):c.847G>A (p.Ala283Thr)	DHRS9 (A283T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2383289	NM_001376924.1(DHRS9):c.818C>G (p.Thr273Arg)	DHRS9 (T273R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2373322	NM_001376924.1(DHRS9):c.821G>A (p.Ser274Asn)	DHRS9 (S274N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2347327	NM_001376924.1(DHRS9):c.352G>A (p.Val118Met)	DHRS9 (V178M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2308742	NM_001376924.1(DHRS9):c.479T>A (p.Ile160Asn)	DHRS9 (I160N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2279276	NM_001376924.1(DHRS9):c.202G>C (p.Ala68Pro)	DHRS9 (A68P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2272414	NM_001376924.1(DHRS9):c.350G>T (p.Gly117Val)	DHRS9 (G117V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2237862	NM_001376924.1(DHRS9):c.601G>A (p.Val201Ile)	DHRS9 (V201I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2228031	NM_001376924.1(DHRS9):c.641C>T (p.Ala214Val)	DHRS9 (A214V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2226053	NM_001376924.1(DHRS9):c.558C>G (p.Phe186Leu)	DHRS9 (F246L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2208450	NM_001376924.1(DHRS9):c.671T>A (p.Leu224His)	DHRS9 (L284H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1703543	GRCh37/hg19 2p25.3-q37.3(chr2:1-243199373)	ABCA12, ABCB11 +1216 more	Copy number gain	Mosaic trisomy 2	GPathogenic
Select item 1526933	GRCh37/hg19 2q31.1-35(chr2:169829974-215521436)	AGPS, ANKAR +217 more	Copy number gain	not specified	GPathogenic
Select item 1339653	GRCh37/hg19 2q24.2-31.1(chr2:160347642-174075851)x1	METTL8, PSMD14 +67 more	Copy number loss	2q24 microdeletion syndrome	GPathogenic
Select item 981210	GRCh37/hg19 2q24.2-31.3(chr2:163078055-182119617)x1	ABCB11, AGPS +97 more	Copy number loss	2q24 microdeletion syndrome	GPathogenic
Select item 814337	GRCh37/hg19 2q24.2-34(chr2:163233162-211927188)x3	CASP8, CAVIN2 +233 more	Copy number gain	not provided	GPathogenic
Select item 687517	GRCh37/hg19 2q24.3-32.3(chr2:167329586-192756373)x1	ABCB11, AGPS +125 more	Copy number loss	not provided	GPathogenic
Select item 443256	GRCh37/hg19 2q31.1(chr2:169727951-170825165)x1	ABCB11, BBS5 +13 more	Copy number loss	See cases	GUncertain significance
Select item 442998	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)	RGPD4, RGPD5 +1214 more	Copy number gain	See cases	GPathogenic
Select item 442997	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3	IL1F10, IL1R1 +1214 more	Copy number gain	See cases	GPathogenic
Select item 253638	GRCh37/hg19 2q24.1-31.3(chr2:156489430-182921298)x3	ABCB11, ACVR1 +129 more	Copy number gain	See cases	GPathogenic
Select item 187824	GRCh37/hg19 2q24.3-31.1(chr2:167996718-170671886)x1	CERS6, SSB +17 more	Copy number loss	See cases	GLikely pathogenic
Select item 154177	GRCh38/hg38 2q24.1-31.1(chr2:154294042-175989372)x3	LOC129935011, LOC129935012 +530 more	Copy number gain	See cases	GPathogenic
Select item 150637	GRCh38/hg38 2q24.3-31.1(chr2:168884350-169959279)x1	ABCB11, BBS5 +33 more	Copy number loss	See cases	GUncertain significance
Select item 60249	GRCh38/hg38 2q24.3-31.1(chr2:164066038-172097886)x1	LOC129935070, LOC129935071 +162 more	Copy number loss	See cases	GPathogenic
Select item 60248	GRCh38/hg38 2q24.3-32.1(chr2:163965382-182195062)x1	ABCB11, AGPS +488 more	Copy number loss	See cases	GPathogenic
Select item 57491	GRCh38/hg38 2q24.3-31.1(chr2:164850117-175559190)x1	ABCB11, ATF2 +269 more	Copy number loss	See cases	GPathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from Gene

Items: 43