"GeneDx"[submitter] AND "P2RY12"[gene] - ClinVar

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Items: 29

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 261633	NM_022788.5(P2RY12):c.36T>G (p.Gly12=)	MED12L, P2RY12	Single nucleotide variant (synonymous variant +1 more)	not specified +2 more	GBenign
Select item 261632	NM_022788.5(P2RY12):c.18C>T (p.Asn6=)	MED12L, P2RY12	Single nucleotide variant (synonymous variant +1 more)	not specified +1 more	GBenign
Select item 2505949	NM_001393769.1(MED12L):c.2323G>A (p.Ala775Thr)	MED12L, P2RY12 (A740T +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1723020	NM_001393769.1(MED12L):c.2638G>A (p.Gly880Arg)	MED12L, P2RY12 (G845R +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 1693396	NM_001393769.1(MED12L):c.2708C>T (p.Ser903Phe)	MED12L, P2RY12 (S868F +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2430446	NM_001393769.1(MED12L):c.2857C>T (p.Pro953Ser)	MED12L, P2RY12 (P918S +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2295737	NM_001393769.1(MED12L):c.2873C>T (p.Ser958Phe)	MED12L, P2RY12 (S923F +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3378093	NM_001393769.1(MED12L):c.2895_2896del (p.Tyr966fs)	MED12L, P2RY12 (Y931fs +1 more)	Deletion (frameshift variant +1 more)	not provided	GPathogenic
Select item 3370780	NM_001393769.1(MED12L):c.3014C>T (p.Ser1005Leu)	MED12L, P2RY12 (S1005L +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1695590	NM_001393769.1(MED12L):c.3177T>A (p.Asp1059Glu)	MED12L, P2RY12 (D1024E +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1707006	NM_001393769.1(MED12L):c.3271C>G (p.Leu1091Val)	MED12L, P2RY12 (L1056V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1329674	NM_001393769.1(MED12L):c.3367A>G (p.Ile1123Val)	MED12L, P2RY12 (I1088V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2576787	NM_001393769.1(MED12L):c.3385C>T (p.Arg1129Ter)	MED12L, P2RY12 (R1094* +1 more)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 1707873	NM_001393769.1(MED12L):c.3469G>A (p.Glu1157Lys)	MED12L, P2RY12 (E1122K +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1699844	NM_001393769.1(MED12L):c.3533T>G (p.Phe1178Cys)	P2RY12, MED12L (F1143C +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1806201	NM_001393769.1(MED12L):c.3541C>G (p.Gln1181Glu)	MED12L, P2RY12 (Q1146E +1 more)	Single nucleotide variant (missense variant +1 more)	Nizon-Isidor syndrome +1 more	GUncertain significance
Select item 2505840	NM_001393769.1(MED12L):c.3708TGA[1] (p.Asp1238del)	MED12L, P2RY12 (D1203del +1 more)	Microsatellite (inframe_deletion +1 more)	not provided	GUncertain significance
Select item 1803464	NM_001393769.1(MED12L):c.3751G>C (p.Asp1251His)	MED12L, P2RY12 (D1216H +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1683810	NM_001393769.1(MED12L):c.4186A>G (p.Ile1396Val)	MED12L, P2RY12 (I1361V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 3369088	NM_001393769.1(MED12L):c.4273G>T (p.Asp1425Tyr)	MED12L, P2RY12 (D1390Y +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1800867	NM_001393769.1(MED12L):c.4328G>A (p.Arg1443His)	MED12L, P2RY12 (R1408H +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 3372590	NM_001393769.1(MED12L):c.4334G>T (p.Gly1445Val)	MED12L, P2RY12 (G1410V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1318506	NM_001393769.1(MED12L):c.4598G>A (p.Ser1533Asn)	MED12L, P2RY12 (S1498N +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1251486	NM_001393769.1(MED12L):c.4790+15C>T	MED12L, P2RY12	Single nucleotide variant (intron variant)	Nizon-Isidor syndrome +1 more	GBenign
Select item 1318720	NM_001393769.1(MED12L):c.4850C>G (p.Ser1617Cys)	MED12L, P2RY12 (S1582C +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
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: 29