P2RY14[gene] - ClinVar

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Items: 36

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 145614	GRCh38/hg38 3q13.11-29(chr3:103426882-198110178)x3	BPESC1, BTLA +2645 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
Select item 57983	GRCh38/hg38 3q24-29(chr3:147521892-198096565)x3	BDH1, C3orf33 +1449 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 2394286	NM_014879.4(P2RY14):c.980G>A (p.Arg327Lys)	P2RY14, MED12L (R327K)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2323837	NM_014879.4(P2RY14):c.961G>C (p.Asp321His)	MED12L, P2RY14 (D321H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 729312	NM_014879.4(P2RY14):c.902C>T (p.Pro301Leu)	MED12L, P2RY14 (P301L)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2545703	NM_014879.4(P2RY14):c.838A>T (p.Thr280Ser)	MED12L, P2RY14 (T280S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2256283	NM_014879.4(P2RY14):c.577G>A (p.Ala193Thr)	P2RY14, MED12L (A193T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2206809	NM_014879.4(P2RY14):c.431T>C (p.Ile144Thr)	P2RY14, MED12L (I144T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2320875	NM_014879.4(P2RY14):c.401C>T (p.Ser134Leu)	MED12L, P2RY14 (S134L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2619782	NM_014879.4(P2RY14):c.379C>T (p.Leu127Phe)	MED12L, P2RY14 (L127F)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2221020	NM_014879.4(P2RY14):c.250C>T (p.Leu84Phe)	P2RY14, MED12L (L84F)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2205695	NM_014879.4(P2RY14):c.19A>C (p.Thr7Pro)	MED12L, P2RY14 (T7P)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2671595	Single allele	AADAC, AADACL2 +286 more	Duplication	not provided	GPathogenic
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	CLRN1, CPA3 +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	FBXL2, FBXO40 +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	ANKUB1, AADAC +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	PTX3, MIR1224 +220 more	Copy number gain	See cases	GPathogenic

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Items: 36