ClinVar for Gene (Select 134860) - ClinVar

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Links from Gene

Items: 39

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3173198	NM_175057.4(TAAR9):c.964A>G (p.Ile322Val)	TAAR9 (I322V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3173196	NM_175057.4(TAAR9):c.916A>C (p.Met306Leu)	TAAR9 (M306L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3173195	NM_175057.4(TAAR9):c.905A>G (p.Tyr302Cys)	TAAR9 (Y302C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3173194	NM_175057.4(TAAR9):c.725C>T (p.Ser242Leu)	TAAR9 (S242L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3173193	NM_175057.4(TAAR9):c.614T>C (p.Leu205Pro)	TAAR9 (L205P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3173192	NM_175057.4(TAAR9):c.611T>C (p.Leu204Pro)	TAAR9 (L204P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3173191	NM_175057.4(TAAR9):c.491G>A (p.Ser164Asn)	TAAR9 (S164N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3173190	NM_175057.4(TAAR9):c.172C>T (p.Leu58Phe)	TAAR9 (L58F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062934	GRCh37/hg19 6q23.2-24.2(chr6:131569837-145572239)x3	ABRACL, ADAT2 +69 more	Copy number gain	not specified	GPathogenic
Select item 3062902	GRCh37/hg19 6q22.31-25.3(chr6:119840686-156623091)x3	ABRACL, ADAT2 +155 more	Copy number gain	not specified	GPathogenic
Select item 2685213	GRCh37/hg19 6q22.31-23.3(chr6:120218852-137160850)x1	AHI1, AKAP7 +69 more	Copy number loss	not provided	GPathogenic
Select item 2656915	NM_175057.4(TAAR9):c.915T>C (p.Ala305=)	TAAR9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2656914	NM_175057.4(TAAR9):c.246A>T (p.Gly82=)	TAAR9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2656913	NM_175057.4(TAAR9):c.111C>T (p.Ala37=)	TAAR9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2592434	NM_175057.4(TAAR9):c.878A>G (p.Tyr293Cys)	TAAR9 (Y293C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2537337	NM_175057.4(TAAR9):c.650A>G (p.Tyr217Cys)	TAAR9 (Y217C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2525736	NM_175057.4(TAAR9):c.202A>G (p.Asn68Asp)	TAAR9 (N68D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2455655	NM_175057.4(TAAR9):c.566G>T (p.Gly189Val)	TAAR9 (G189V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2383013	NM_175057.4(TAAR9):c.215C>T (p.Ala72Val)	TAAR9 (A72V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2371321	NM_175057.4(TAAR9):c.206T>A (p.Phe69Tyr)	TAAR9 (F69Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2353134	NM_175057.4(TAAR9):c.406G>C (p.Asp136His)	TAAR9 (D136H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2340111	NM_175057.4(TAAR9):c.944A>G (p.Tyr315Cys)	TAAR9 (Y315C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2318416	NM_175057.4(TAAR9):c.724T>G (p.Ser242Ala)	TAAR9 (S242A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2299650	NM_175057.4(TAAR9):c.1039A>G (p.Thr347Ala)	TAAR9 (T347A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2268143	NM_175057.4(TAAR9):c.175C>G (p.His59Asp)	TAAR9 (H59D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2263407	NM_175057.4(TAAR9):c.935C>A (p.Ala312Asp)	TAAR9 (A312D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2261786	NM_175057.4(TAAR9):c.790A>G (p.Met264Val)	TAAR9 (M264V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2240535	NM_175057.4(TAAR9):c.83C>G (p.Ser28Trp)	TAAR9 (S28W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2219968	NM_175057.4(TAAR9):c.937T>C (p.Phe313Leu)	TAAR9 (F313L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2209651	NM_175057.4(TAAR9):c.793G>A (p.Ala265Thr)	TAAR9 (A265T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1703230	Single allele	AKAP7, ARG1 +400 more	Deletion	Interstitial 6q microdeletion syndrome	GPathogenic
Select item 1340932	GRCh37/hg19 6q23.1-23.3(chr6:130769034-136009217)x1	AHI1, AKAP7 +30 more	Copy number loss	not provided	GPathogenic
Select item 563236	GRCh37/hg19 6q23.2-23.3(chr6:132002460-137160850)x1	ALDH8A1, PDE7B +31 more	Copy number loss	not provided	GPathogenic
Select item 563235	GRCh37/hg19 6q23.2-23.3(chr6:131388023-137469640)x1	ALDH8A1, VNN2 +37 more	Copy number loss	not provided	GPathogenic
Select item 443497	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)	TAAR8, TAAR9 +1028 more	Copy number gain	See cases	GPathogenic
Select item 443496	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3	VPS52, VTA1 +1028 more	Copy number gain	See cases	GPathogenic
Select item 395421	GRCh37/hg19 6q23.2(chr6:132859724-132910636)x1	TAAR5, TAAR6 +2 more	Copy number loss	See cases	GUncertain significance
Select item 150937	GRCh38/hg38 6q13-24.1(chr6:74382807-142040500)x3	LOC129996786, LOC129996787 +1449 more	Copy number gain	See cases	GPathogenic
Select item 59545	GRCh38/hg38 6q23.2(chr6:132455272-133141153)x3	LINC00326, LOC123864071 +34 more	Copy number gain	See cases	GUncertain significance

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Links from Gene

Items: 39