ClinVar for Gene (Select 83551) - ClinVar

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Links from Gene

Items: 37

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3246194	NC_000006.11:g.(?_131894423)_(133849943_?)del	ARG1, CCN2 +19 more	Deletion	not provided	GPathogenic
Select item 3173189	NM_053278.3(TAAR8):c.902A>G (p.Tyr301Cys)	TAAR8 (Y301C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3173188	NM_053278.3(TAAR8):c.703A>G (p.Ser235Gly)	TAAR8 (S235G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3173187	NM_053278.3(TAAR8):c.422C>T (p.Thr141Ile)	TAAR8 (T141I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3173186	NM_053278.3(TAAR8):c.261C>A (p.Phe87Leu)	TAAR8 (F87L)	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 2597335	NM_053278.3(TAAR8):c.9C>A (p.Ser3Arg)	TAAR8 (S3R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2590887	NM_053278.3(TAAR8):c.77A>G (p.Tyr26Cys)	TAAR8 (Y26C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2561049	NM_053278.3(TAAR8):c.545C>G (p.Ala182Gly)	TAAR8 (A182G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2546529	NM_053278.3(TAAR8):c.464C>A (p.Ser155Tyr)	TAAR8 (S155Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2535923	NM_053278.3(TAAR8):c.661C>T (p.Leu221Phe)	TAAR8 (L221F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2510417	NM_053278.3(TAAR8):c.91C>T (p.Arg31Trp)	TAAR8 (R31W)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2494419	NM_053278.3(TAAR8):c.460G>A (p.Val154Met)	TAAR8 (V154M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2463081	NM_053278.3(TAAR8):c.553T>C (p.Cys185Arg)	TAAR8 (C185R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2338020	NM_053278.3(TAAR8):c.509G>T (p.Gly170Val)	TAAR8 (G170V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2329320	NM_053278.3(TAAR8):c.555C>G (p.Cys185Trp)	TAAR8 (C185W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2325488	NM_053278.3(TAAR8):c.313A>G (p.Thr105Ala)	TAAR8 (T105A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2295016	NM_053278.3(TAAR8):c.20A>G (p.Gln7Arg)	TAAR8 (Q7R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2293719	NM_053278.3(TAAR8):c.409C>G (p.Leu137Val)	TAAR8 (L137V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2266029	NM_053278.3(TAAR8):c.697A>G (p.Thr233Ala)	TAAR8 (T233A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2248965	NM_053278.3(TAAR8):c.697A>T (p.Thr233Ser)	TAAR8 (T233S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2243962	NM_053278.3(TAAR8):c.719C>T (p.Ser240Phe)	TAAR8 (S240F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2214253	NM_053278.3(TAAR8):c.206T>G (p.Leu69Arg)	TAAR8 (L69R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2210670	NM_053278.3(TAAR8):c.862C>G (p.Pro288Ala)	TAAR8 (P288A)	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 781009	NM_053278.3(TAAR8):c.458G>A (p.Ser153Asn)	TAAR8 (S153N)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 733690	NM_053278.3(TAAR8):c.446G>T (p.Gly149Val)	TAAR8 (G149V)	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)	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: 37