4537[HGNC] - ClinVar

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Items: 39

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 145614	GRCh38/hg38 3q13.11-29(chr3:103426882-198110178)x3	LOC115995524, LOC115995525 +2647 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
Select item 57983	GRCh38/hg38 3q24-29(chr3:147521892-198096565)x3	LOC123453201, LOC123453202 +1450 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 3207686	NM_176894.3(P2RY13):c.996A>T (p.Gln332His)	MED12L, P2RY13 (Q332H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3207685	NM_176894.3(P2RY13):c.840C>G (p.His280Gln)	MED12L, P2RY13 (H280Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3303805	NM_176894.3(P2RY13):c.760G>A (p.Glu254Lys)	MED12L, P2RY13 (E254K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2618519	NM_176894.3(P2RY13):c.719G>C (p.Arg240Thr)	MED12L, P2RY13 (R240T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3207684	NM_176894.3(P2RY13):c.686T>A (p.Val229Glu)	MED12L, P2RY13 (V229E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3207682	NM_176894.3(P2RY13):c.634A>G (p.Ile212Val)	MED12L, P2RY13 (I212V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2533867	NM_176894.3(P2RY13):c.494T>C (p.Ile165Thr)	MED12L, P2RY13 (I165T)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2214793	NM_176894.3(P2RY13):c.359C>T (p.Ser120Leu)	MED12L, P2RY13 (S120L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2654232	NM_176894.3(P2RY13):c.338C>A (p.Ala113Asp)	MED12L, P2RY13 (A113D)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2280267	NM_176894.3(P2RY13):c.301C>T (p.Leu101Phe)	MED12L, P2RY13 (L101F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2654233	NM_176894.3(P2RY13):c.256T>C (p.Leu86=)	MED12L, P2RY13	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3207681	NM_176894.3(P2RY13):c.194C>T (p.Ala65Val)	MED12L, P2RY13 (A65V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2671595	Single allele	MUC20, MUC4 +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	P2RY13, WWTR1 +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	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 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	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 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	AADAC, AADACL2 +220 more	Copy number gain	See cases	GPathogenic

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Items: 39