ClinVar for Gene (Select 64582) - ClinVar

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Links from Gene

Items: 54

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3282203	NM_022571.6(GPR135):c.1376T>C (p.Met459Thr)	GPR135 (M459T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3282202	NM_022571.6(GPR135):c.1178A>G (p.Asn393Ser)	GPR135 (N393S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3282201	NM_022571.6(GPR135):c.698C>T (p.Ala233Val)	GPR135 (A233V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3282200	NM_022571.6(GPR135):c.1162G>A (p.Ala388Thr)	GPR135 (A388T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3101412	NM_022571.6(GPR135):c.913C>A (p.Arg305Ser)	GPR135 (R305S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3101410	NM_022571.6(GPR135):c.907A>T (p.Thr303Ser)	GPR135 (T303S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3101409	NM_022571.6(GPR135):c.799T>C (p.Ser267Pro)	GPR135 (S267P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3101408	NM_022571.6(GPR135):c.742G>C (p.Gly248Arg)	GPR135 (G248R)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3101407	NM_022571.6(GPR135):c.673C>G (p.Arg225Gly)	GPR135 (R225G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3101406	NM_022571.6(GPR135):c.224C>T (p.Ser75Phe)	GPR135, LOC130055744 (S75F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3101405	NM_022571.6(GPR135):c.1117G>A (p.Val373Ile)	GPR135 (V373I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3101404	NM_022571.6(GPR135):c.1036C>G (p.Pro346Ala)	GPR135 (P346A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2685487	GRCh37/hg19 14q22.3-23.2(chr14:55667390-64447598)x1	HIF1A, HIF1A-AS2 +47 more	Copy number loss	not provided	GPathogenic
Select item 2684728	GRCh37/hg19 14q23.1-32.33(chr14:58894502-107227240)x3	CCNK, MIR376A1 +353 more	Copy number gain	not provided	GPathogenic
Select item 2684726	GRCh37/hg19 14q22.3-24.1(chr14:57588965-68334517)x3	ACTR10, AKAP5 +71 more	Copy number gain	not provided	GLikely pathogenic
Select item 2684714	GRCh37/hg19 14q11.2-23.1(chr14:20511673-61826023)x3	ABHD12B, ABHD4 +289 more	Copy number gain	not provided	GPathogenic
Select item 2611362	NM_022571.6(GPR135):c.575C>T (p.Ser192Leu)	GPR135 (S192L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2604141	NM_022571.6(GPR135):c.520G>C (p.Ala174Pro)	GPR135 (A174P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2595093	NM_022571.6(GPR135):c.1460C>A (p.Ser487Tyr)	GPR135 (S487Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2568441	NM_022571.6(GPR135):c.1445C>T (p.Thr482Ile)	GPR135 (T482I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2555673	NM_022571.6(GPR135):c.134G>C (p.Ser45Thr)	GPR135, LOC130055744 (S45T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2543266	NM_022571.6(GPR135):c.1318G>A (p.Ala440Thr)	GPR135 (A440T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2524763	NM_022571.6(GPR135):c.647C>T (p.Pro216Leu)	GPR135 (P216L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2512944	NM_022571.6(GPR135):c.359G>A (p.Gly120Asp)	GPR135 (G120D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2476971	NM_022571.6(GPR135):c.1012G>A (p.Val338Ile)	GPR135 (V338I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2408787	NM_022571.6(GPR135):c.1028G>T (p.Cys343Phe)	GPR135 (C343F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2407274	NM_022571.6(GPR135):c.1070G>A (p.Arg357Gln)	GPR135 (R357Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2389267	NM_022571.6(GPR135):c.62C>T (p.Ser21Phe)	GPR135, LOC130055744 (S21F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2385323	NM_022571.6(GPR135):c.1408T>C (p.Cys470Arg)	GPR135 (C470R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2377721	NM_022571.6(GPR135):c.152C>A (p.Ala51Glu)	GPR135, LOC130055744 (A51E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2375112	NM_022571.6(GPR135):c.940G>A (p.Val314Met)	GPR135 (V314M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2353218	NM_022571.6(GPR135):c.941T>C (p.Val314Ala)	GPR135 (V314A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2344468	NM_022571.6(GPR135):c.1156A>G (p.Ile386Val)	GPR135 (I386V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2325384	NM_022571.6(GPR135):c.487G>C (p.Asp163His)	GPR135 (D163H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2316287	NM_022571.6(GPR135):c.782G>T (p.Gly261Val)	GPR135 (G261V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2312848	NM_022571.6(GPR135):c.238G>A (p.Glu80Lys)	GPR135, LOC130055744 (E80K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2288562	NM_022571.6(GPR135):c.76G>A (p.Ala26Thr)	GPR135, LOC130055744 (A26T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2280357	NM_022571.6(GPR135):c.728C>T (p.Pro243Leu)	GPR135 (P243L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2259325	NM_022571.6(GPR135):c.1154T>C (p.Val385Ala)	GPR135 (V385A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2244666	NM_022571.6(GPR135):c.162C>A (p.Asn54Lys)	GPR135, LOC130055744 (N54K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2229693	NM_022571.6(GPR135):c.881G>A (p.Cys294Tyr)	GPR135 (C294Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2214543	NM_022571.6(GPR135):c.367G>A (p.Ala123Thr)	GPR135 (A123T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2209346	NM_022571.6(GPR135):c.1300T>A (p.Tyr434Asn)	GPR135 (Y434N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1807640	GRCh37/hg19 14q22.3-23.2(chr14:57804997-63590203)x1	ACTR10, ARID4A +32 more	Copy number loss	not provided	GLikely pathogenic
Select item 1707441	GRCh37/hg19 14q13.3-32.33(chr14:37671058-106985955)x2	AREL1, ARF6 +447 more	Copy number gain	See cases	GPathogenic
Select item 1162192	GRCh37/hg19 14q22.2-24.3(chr14:54654001-75828024)x3	ISCA2, TMEM30B +158 more	Copy number gain	14q22.2q24.3 duplication	GLikely pathogenic
Select item 564123	GRCh37/hg19 14q23.1(chr14:59527587-60119877)x3	JKAMP, GPR135 +4 more	Copy number gain	not provided	GUncertain significance
Select item 443977	GRCh37/hg19 14q11.2-32.33(chr14:20511673-107285437)	GTF2A1, GZMB +624 more	Copy number gain	See cases	GPathogenic
Select item 395470	GRCh37/hg19 14q11.2-32.33(chr14:19794561-107234280)x3	ABCD4, ABHD12B +635 more	Copy number gain	See cases	GPathogenic
Select item 155306	GRCh38/hg38 14q11.2-32.33(chr14:20043514-106877229)x3	LOC126862060, LOC126862061 +3282 more	Copy number gain	See cases	GPathogenic
Select item 149300	GRCh38/hg38 14q23.1-23.2(chr14:57653413-64093528)x1	ACTR10, ARID4A +202 more	Copy number loss	See cases	GPathogenic
Select item 146230	GRCh38/hg38 14q11.2-32.33(chr14:20151149-106855263)x3	LOC125048449, LOC125048450 +3277 more	Copy number gain	See cases	GPathogenic
Select item 57782	GRCh38/hg38 14q23.1(chr14:58146022-61273619)x1	ACTR10, ARID4A +113 more	Copy number loss	See cases	GPathogenic
Select item 57781	GRCh38/hg38 14q22.3-23.3(chr14:57041036-67208231)x1	ACTR10, AKAP5 +344 more	Copy number loss	See cases	GPathogenic

ClinVar

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Links from Gene

Items: 54