ClinVar for Gene (Select 53836) - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 52

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3101890	NM_023915.4(GPR87):c.871A>G (p.Ile291Val)	GPR87, MED12L (I291V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3101889	NM_023915.4(GPR87):c.76A>G (p.Arg26Gly)	GPR87, MED12L (R26G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3101888	NM_023915.4(GPR87):c.586A>C (p.Lys196Gln)	GPR87, MED12L (K196Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3101887	NM_023915.4(GPR87):c.533T>C (p.Ile178Thr)	GPR87, MED12L (I178T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2671595	Single allele	AADAC, AADACL2 +286 more	Duplication	not provided	GPathogenic
Select item 2654231	NM_023915.4(GPR87):c.493G>A (p.Val165Ile)	GPR87, MED12L (V165I)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2606236	NM_023915.4(GPR87):c.86G>C (p.Gly29Ala)	GPR87, MED12L (G29A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2603309	NM_023915.4(GPR87):c.456G>A (p.Met152Ile)	GPR87, MED12L (M152I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2524508	NM_023915.4(GPR87):c.410T>C (p.Ile137Thr)	GPR87, MED12L (I137T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2402250	NM_023915.4(GPR87):c.680T>C (p.Ile227Thr)	GPR87, MED12L (I227T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2398687	NM_023915.4(GPR87):c.721A>C (p.Ile241Leu)	GPR87, MED12L (I241L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2394996	NM_023915.4(GPR87):c.769G>A (p.Val257Ile)	GPR87, MED12L (V257I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2391302	NM_023915.4(GPR87):c.1040C>G (p.Ser347Trp)	GPR87, MED12L (S347W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2375921	NM_023915.4(GPR87):c.850T>G (p.Leu284Val)	GPR87, MED12L (L284V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2373809	NM_023915.4(GPR87):c.533T>A (p.Ile178Asn)	GPR87, MED12L (I178N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2370798	NM_023915.4(GPR87):c.772G>A (p.Val258Met)	GPR87, MED12L (V258M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2336311	NM_023915.4(GPR87):c.4G>A (p.Gly2Arg)	GPR87, MED12L (G2R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2329674	NM_023915.4(GPR87):c.854A>T (p.Asp285Val)	GPR87, MED12L (D285V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2329056	NM_023915.4(GPR87):c.82G>A (p.Asp28Asn)	GPR87, MED12L (D28N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2283130	NM_023915.4(GPR87):c.557A>C (p.Glu186Ala)	GPR87, MED12L (E186A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2259248	NM_023915.4(GPR87):c.112A>G (p.Asn38Asp)	GPR87, MED12L (N38D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2258472	NM_023915.4(GPR87):c.1069G>T (p.Asp357Tyr)	MED12L, GPR87 (D357Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2258471	NM_023915.4(GPR87):c.1067C>T (p.Thr356Ile)	GPR87, MED12L (T356I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2258470	NM_023915.4(GPR87):c.1060G>T (p.Asp354Tyr)	GPR87, MED12L (D354Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2253097	NM_023915.4(GPR87):c.142C>T (p.Leu48Phe)	GPR87, MED12L (L48F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2215222	NM_023915.4(GPR87):c.125C>T (p.Thr42Ile)	GPR87, MED12L (T42I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1807815	GRCh37/hg19 3q13.31-26.31(chr3:116620308-172042292)x3	A4GNT, AADAC +303 more	Copy number gain	not provided	GPathogenic
Select item 1527043	GRCh37/hg19 3q24-25.33(chr3:145486960-160504834)	AADAC, AADACL2 +75 more	Copy number gain	not specified	GPathogenic
Select item 1459543	NC_000003.11:g.(?_148447967)_(151176497_?)del	ERICH6, P2RY12 +28 more	Deletion	Glycogen storage disease XV +1 more	GPathogenic
Select item 1340185	GRCh37/hg19 3q25.1(chr3:150889080-151090963)x1	GPR171, GPR87 +4 more	Copy number loss	not provided	GUncertain significance
Select item 1330165	GRCh37/hg19 3q23-25.32(chr3:142729607-157921084)x3	AADAC, SLC33A1 +63 more	Copy number gain	Brachycephaly +2 more	GPathogenic
Select item 1328449	GRCh37/hg19 3q24-26.1(chr3:143439359-165252122)x1	AADAC, AADACL2 +83 more	Copy number loss	not provided	GPathogenic
Select item 1047879	GRCh37/hg19 3q22.3-26.1(chr3:138173683-162494699)	CHST2, CLRN1 +115 more	Copy number gain	Global developmental delay	GPathogenic
Select item 980068	GRCh37/hg19 3q25.1(chr3:150922637-151168813)x3	P2RY14, GPR87 +4 more	Copy number gain	not provided	GUncertain significance
Select item 980067	GRCh37/hg19 3q25.1(chr3:150898920-151165339)x3	IGSF10, GPR171 +5 more	Copy number gain	not provided	GUncertain significance
Select item 980066	GRCh37/hg19 3q25.1(chr3:150898716-151133816)x3	MED12L, GPR87 +4 more	Copy number gain	not provided	GLikely benign
Select item 929388	GRCh37/hg19 3q22.3-26.1(chr3:138145289-162275610)x3	AADAC, AADACL2 +115 more	Copy number gain	See cases	GPathogenic
Select item 814488	GRCh37/hg19 3q25.1(chr3:150534295-151213925)x3	MED12L, CLRN1 +7 more	Copy number gain	not provided	GUncertain significance
Select item 814487	GRCh37/hg19 3q25.1-25.2(chr3:149404255-152786331)x1	GPR171, IGSF10 +23 more	Copy number loss	not provided	GPathogenic
Select item 686288	GRCh37/hg19 3q25.1(chr3:150766211-151098711)x3	GPR171, GPR87 +4 more	Copy number gain	not provided	GUncertain significance
Select item 562827	GRCh37/hg19 3q25.1(chr3:150760009-151097391)x3	P2RY14, P2RY12 +4 more	Copy number gain	not provided	GLikely benign
Select item 442527	GRCh37/hg19 3q25.1-25.2(chr3:150352753-153522663)x1	AADAC, AADACL2 +16 more	Copy number loss	See cases	GLikely pathogenic
Select item 442401	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3	A4GNT, AADAC +1054 more	Copy number gain	See cases	GPathogenic
Select item 442400	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)	CMTM6, CMTM7 +1054 more	Copy number gain	See cases	GPathogenic
Select item 395230	GRCh37/hg19 3q24-25.2(chr3:148425748-153220169)x1	AADAC, AADACL2 +35 more	Copy number loss	See cases	GPathogenic
Select item 394484	GRCh37/hg19 3q25.1(chr3:150915867-151163492)x3	GPR171, GPR87 +5 more	Copy number gain	See cases	GUncertain significance
Select item 393807	GRCh37/hg19 3q25.1(chr3:151012637-151047246)x1	GPR87, MED12L +1 more	Copy number loss	See cases	GLikely benign
Select item 253377	GRCh37/hg19 3q24-29(chr3:142995020-192997215)x4	PTX3, MIR1224 +220 more	Copy number gain	See cases	GPathogenic
Select item 152901	GRCh38/hg38 3q25.1(chr3:151182346-151437002)x3	GPR171, GPR87 +11 more	Copy number gain	See cases	GUncertain significance
Select item 145614	GRCh38/hg38 3q13.11-29(chr3:103426882-198110178)x3	LOC129937268, LOC129937269 +2645 more	Copy number gain	See cases	GPathogenic
Select item 57983	GRCh38/hg38 3q24-29(chr3:147521892-198096565)x3	BDH1, C3orf33 +1449 more	Copy number gain	See cases	GPathogenic
Select item 57982	GRCh38/hg38 3q24-26.32(chr3:147442566-178522531)x3	LOC129937944, LOC129937945 +630 more	Copy number gain	See cases	GPathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from Gene

Items: 52