ClinVar for Gene (Select 29909) - ClinVar

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

Links from Gene

Items: 44

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3282316	NM_013308.4(GPR171):c.43G>A (p.Glu15Lys)	GPR171, MED12L (E15K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3282315	NM_013308.4(GPR171):c.229G>A (p.Val77Met)	GPR171, MED12L (V77M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3101609	NM_013308.4(GPR171):c.860A>G (p.His287Arg)	GPR171, MED12L (H287R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3101607	NM_013308.4(GPR171):c.122A>G (p.Gln41Arg)	GPR171, MED12L (Q41R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2672965	NM_013308.4(GPR171):c.735G>A (p.Pro245=)	GPR171, MED12L	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2671595	Single allele	MUC20, MUC4 +286 more	Duplication	not provided	GPathogenic
Select item 2654230	NM_013308.4(GPR171):c.520A>G (p.Arg174Gly)	GPR171, MED12L (R174G)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2654229	NM_013308.4(GPR171):c.879C>T (p.Arg293=)	GPR171, MED12L	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2617481	NM_013308.4(GPR171):c.28G>A (p.Val10Ile)	GPR171, MED12L (V10I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2616255	NM_013308.4(GPR171):c.841G>T (p.Asp281Tyr)	GPR171, MED12L (D281Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2591953	NM_013308.4(GPR171):c.545T>A (p.Phe182Tyr)	GPR171, MED12L (F182Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2489980	NM_013308.4(GPR171):c.764C>G (p.Thr255Ser)	GPR171, MED12L (T255S)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2477514	NM_013308.4(GPR171):c.436A>T (p.Met146Leu)	GPR171, MED12L (M146L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2371017	NM_013308.4(GPR171):c.775A>G (p.Thr259Ala)	GPR171, MED12L (T259A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2332546	NM_013308.4(GPR171):c.821C>T (p.Ala274Val)	GPR171, MED12L (A274V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2295362	NM_013308.4(GPR171):c.168G>C (p.Leu56Phe)	GPR171, MED12L (L56F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2295196	NM_013308.4(GPR171):c.593C>G (p.Ser198Cys)	GPR171, MED12L (S198C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2273849	NM_013308.4(GPR171):c.552T>G (p.Cys184Trp)	GPR171, MED12L (C184W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2213121	NM_013308.4(GPR171):c.722T>C (p.Ile241Thr)	GPR171, MED12L (I241T)	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	CPB1, EIF2A +28 more	Deletion	Polyglucosan body myopathy type 2 +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	PTX3, SCHIP1 +83 more	Copy number loss	not provided	GPathogenic
Select item 1047879	GRCh37/hg19 3q22.3-26.1(chr3:138173683-162494699)	PLOD2, PLS1 +115 more	Copy number gain	Global developmental delay	GPathogenic
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 709196	NM_013308.4(GPR171):c.15G>A (p.Ser5=)	GPR171, MED12L	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
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	HHLA2, HIGD1A +1054 more	Copy number gain	See cases	GPathogenic
Select item 442400	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)	A4GNT, AADAC +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 253377	GRCh37/hg19 3q24-29(chr3:142995020-192997215)x4	AADAC, AADACL2 +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	LOC115995524, LOC115995525 +2647 more	Copy number gain	See cases	GPathogenic
Select item 57983	GRCh38/hg38 3q24-29(chr3:147521892-198096565)x3	LOC123453201, LOC123453202 +1450 more	Copy number gain	See cases	GPathogenic
Select item 57982	GRCh38/hg38 3q24-26.32(chr3:147442566-178522531)x3	LOC129937936, LOC129937937 +631 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: 44