ClinVar for Gene (Select 9287) - ClinVar

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Links from Gene

Items: 43

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3324128	NM_001033080.1(TAAR2):c.772A>G (p.Lys258Glu)	TAAR2 (K213E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3324127	NM_001033080.1(TAAR2):c.349A>G (p.Lys117Glu)	TAAR2 (K117E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3246194	NC_000006.11:g.(?_131894423)_(133849943_?)del	ARG1, CCN2 +19 more	Deletion	not provided	GPathogenic
Select item 3173173	NM_001033080.1(TAAR2):c.859T>C (p.Phe287Leu)	TAAR2 (F242L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3173172	NM_001033080.1(TAAR2):c.676G>A (p.Val226Met)	TAAR2 (V181M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3173171	NM_001033080.1(TAAR2):c.335G>A (p.Gly112Glu)	TAAR2 (G112E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3173170	NM_001033080.1(TAAR2):c.133G>A (p.Ala45Thr)	TAAR2 (A45T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3173169	NM_001033080.1(TAAR2):c.1012T>C (p.Cys338Arg)	TAAR2 (C293R +1 more)	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 3062914	GRCh37/hg19 6q23.2(chr6:132926526-133319409)x3	RPS12, SLC18B1 +5 more	Copy number gain	not specified	GUncertain significance
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 2684456	GRCh37/hg19 6q23.2(chr6:132926527-133319409)x3	RPS12, SLC18B1 +5 more	Copy number gain	not provided	GUncertain significance
Select item 2617454	NM_001033080.1(TAAR2):c.731A>G (p.Asn244Ser)	TAAR2 (N199S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2613242	NM_001033080.1(TAAR2):c.158C>T (p.Ser53Phe)	TAAR2 (S8F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2604889	NM_001033080.1(TAAR2):c.716A>G (p.His239Arg)	TAAR2 (H239R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2558710	NM_001033080.1(TAAR2):c.611T>C (p.Met204Thr)	TAAR2 (M204T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2544708	NM_001033080.1(TAAR2):c.533T>A (p.Val178Glu)	TAAR2 (V178E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2465127	NM_001033080.1(TAAR2):c.935C>T (p.Pro312Leu)	TAAR2 (P312L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2458821	NM_001033080.1(TAAR2):c.729C>G (p.Ile243Met)	TAAR2 (I198M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2402882	NM_001033080.1(TAAR2):c.740G>A (p.Arg247Gln)	TAAR2 (R247Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2387575	NM_001033080.1(TAAR2):c.658A>G (p.Thr220Ala)	TAAR2 (T175A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2361449	NM_001033080.1(TAAR2):c.942A>G (p.Ile314Met)	TAAR2 (I314M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2322721	NM_001033080.1(TAAR2):c.772A>C (p.Lys258Gln)	TAAR2 (K258Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2314431	NM_001033080.1(TAAR2):c.668C>A (p.Ser223Tyr)	TAAR2 (S223Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2285780	NM_001033080.1(TAAR2):c.115T>C (p.Ser39Pro)	TAAR2 (S39P)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2277058	NM_001033080.1(TAAR2):c.642T>G (p.Phe214Leu)	TAAR2 (F214L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2276914	NM_001033080.1(TAAR2):c.301A>G (p.Met101Val)	TAAR2 (M101V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2260193	NM_001033080.1(TAAR2):c.407C>T (p.Ser136Leu)	TAAR2 (S91L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2238624	NM_001033080.1(TAAR2):c.382A>G (p.Ile128Val)	TAAR2 (I128V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2220124	NM_001033080.1(TAAR2):c.311C>G (p.Ser104Trp)	TAAR2 (S59W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2218647	NM_001033080.1(TAAR2):c.1025C>A (p.Thr342Asn)	TAAR2 (T297N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2205838	NM_001033080.1(TAAR2):c.943T>C (p.Tyr315His)	TAAR2 (Y315H +1 more)	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 1340562	GRCh37/hg19 6q23.2(chr6:132875123-133509642)x3	RPS12, SLC18B1 +7 more	Copy number gain	not provided	GUncertain significance
Select item 688723	GRCh37/hg19 6q23.2(chr6:132926920-133314722)x3	RPS12, SLC18B1 +5 more	Copy number gain	not provided	GUncertain significance
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)	AARS2, ABCC10 +1028 more	Copy number gain	See cases	GPathogenic
Select item 443496	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3	RING1, RIOK1 +1028 more	Copy number gain	See cases	GPathogenic
Select item 150937	GRCh38/hg38 6q13-24.1(chr6:74382807-142040500)x3	LOC129996876, LOC129996877 +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: 43