ClinVar for Gene (Select 319100) - ClinVar

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Links from Gene

Items: 34

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3324132	NM_175067.1(TAAR6):c.150C>A (p.Asn50Lys)	TAAR6 (N50K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3324131	NM_175067.1(TAAR6):c.628A>G (p.Thr210Ala)	TAAR6 (T210A)	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 3173185	NM_175067.1(TAAR6):c.8G>T (p.Ser3Ile)	TAAR6 (S3I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3173184	NM_175067.1(TAAR6):c.769G>A (p.Ala257Thr)	TAAR6 (A257T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3173183	NM_175067.1(TAAR6):c.704G>A (p.Gly235Asp)	TAAR6 (G235D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3173182	NM_175067.1(TAAR6):c.614C>T (p.Ser205Phe)	TAAR6 (S205F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3173181	NM_175067.1(TAAR6):c.577G>A (p.Val193Ile)	TAAR6 (V193I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3173180	NM_175067.1(TAAR6):c.408C>A (p.Asp136Glu)	TAAR6 (D136E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3173179	NM_175067.1(TAAR6):c.183G>C (p.Lys61Asn)	TAAR6 (K61N)	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 2553951	NM_175067.1(TAAR6):c.827T>C (p.Ile276Thr)	TAAR6 (I276T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2536585	NM_175067.1(TAAR6):c.637A>G (p.Met213Val)	TAAR6 (M213V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2491717	NM_175067.1(TAAR6):c.88G>C (p.Gly30Arg)	TAAR6 (G30R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2473139	NM_175067.1(TAAR6):c.1022T>C (p.Phe341Ser)	TAAR6 (F341S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2462376	NM_175067.1(TAAR6):c.41G>A (p.Cys14Tyr)	TAAR6 (C14Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2361961	NM_175067.1(TAAR6):c.77C>T (p.Pro26Leu)	TAAR6 (P26L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2361960	NM_175067.1(TAAR6):c.485T>G (p.Met162Arg)	TAAR6 (M162R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2351323	NM_175067.1(TAAR6):c.203A>G (p.Asn68Ser)	TAAR6 (N68S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2235282	NM_175067.1(TAAR6):c.796G>A (p.Ala266Thr)	TAAR6 (A266T)	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 774647	NM_175067.1(TAAR6):c.296A>G (p.Tyr99Cys)	TAAR6 (Y99C)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 773730	NM_175067.1(TAAR6):c.162G>A (p.Met54Ile)	TAAR6 (M54I)	Single nucleotide variant (missense variant)	not provided	GBenign
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 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	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: 34