ClinVar for Gene (Select 134864) - ClinVar

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Links from Gene

Items: 35

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3173168	NM_138327.4(TAAR1):c.989G>C (p.Arg330Thr)	TAAR1 (R330T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3173167	NM_138327.4(TAAR1):c.838A>G (p.Ile280Val)	TAAR1 (I280V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3173166	NM_138327.4(TAAR1):c.281T>C (p.Val94Ala)	TAAR1 (V94A)	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 3062912	GRCh37/hg19 6q23.2(chr6:132951409-133081430)x3	TAAR1, VNN1 +2 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 2595579	NM_138327.4(TAAR1):c.386T>C (p.Leu129Pro)	TAAR1 (L129P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2543367	NM_138327.4(TAAR1):c.914C>T (p.Ala305Val)	TAAR1 (A305V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2528515	NM_138327.4(TAAR1):c.590C>T (p.Thr197Ile)	TAAR1 (T197I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2478004	NM_138327.4(TAAR1):c.302G>A (p.Ser101Asn)	TAAR1 (S101N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2388814	NM_138327.4(TAAR1):c.649G>A (p.Ala217Thr)	TAAR1 (A217T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2329790	NM_138327.4(TAAR1):c.39T>G (p.Cys13Trp)	TAAR1 (C13W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2325120	NM_138327.4(TAAR1):c.851C>T (p.Thr284Ile)	TAAR1 (T284I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2250793	NM_138327.4(TAAR1):c.68G>A (p.Arg23His)	TAAR1 (R23H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2228406	NM_138327.4(TAAR1):c.745G>A (p.Ala249Thr)	TAAR1 (A249T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2225315	NM_138327.4(TAAR1):c.500G>A (p.Gly167Asp)	TAAR1 (G167D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2208997	NM_138327.4(TAAR1):c.292A>G (p.Ile98Val)	TAAR1 (I98V)	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 752518	NM_138327.4(TAAR1):c.621A>G (p.Leu207=)	TAAR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 738105	NM_138327.4(TAAR1):c.462T>C (p.Phe154=)	TAAR1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 725588	NM_138327.4(TAAR1):c.754A>G (p.Thr252Ala)	TAAR1 (T252A)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 717215	NM_138327.4(TAAR1):c.111A>C (p.Thr37=)	TAAR1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 711978	NM_138327.4(TAAR1):c.67C>T (p.Arg23Cys)	TAAR1 (R23C)	Single nucleotide variant (missense variant)	not provided	GBenign
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)	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 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: 35