18124[HGNC] - ClinVar - NCBI

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	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 2958581	NM_022788.5(P2RY12):c.1004A>C (p.Asp335Ala)	MED12L, P2RY12 (D335A)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 775916	NM_022788.5(P2RY12):c.989A>G (p.Glu330Gly)	MED12L, P2RY12 (E330G)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2235395	NM_022788.5(P2RY12):c.988G>A (p.Glu330Lys)	MED12L, P2RY12 (E330K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2065387	NM_022788.5(P2RY12):c.982A>G (p.Lys328Glu)	MED12L, P2RY12 (K328E)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2974632	NM_022788.5(P2RY12):c.978T>C (p.Asn326=)	MED12L, P2RY12	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2162521	NM_022788.5(P2RY12):c.968C>T (p.Ser323Phe)	MED12L, P2RY12 (S323F)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 2413644	NM_022788.5(P2RY12):c.950A>G (p.Asn317Ser)	MED12L, P2RY12 (N317S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3005883	NM_022788.5(P2RY12):c.921T>A (p.Asn307Lys)	MED12L, P2RY12 (N307K)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2294480	NM_022788.5(P2RY12):c.918A>C (p.Arg306Ser)	MED12L, P2RY12 (R306S)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2197706	NM_022788.5(P2RY12):c.893A>G (p.Tyr298Cys)	MED12L, P2RY12 (Y298C)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 1920098	NM_022788.5(P2RY12):c.848C>T (p.Thr283Ile)	MED12L, P2RY12 (T283I)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2138834	NM_022788.5(P2RY12):c.836T>C (p.Val279Ala)	MED12L, P2RY12 (V279A)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2965456	NM_022788.5(P2RY12):c.835G>A (p.Val279Met)	MED12L, P2RY12 (V279M)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2418352	NM_022788.5(P2RY12):c.808T>C (p.Cys270Arg)	MED12L, P2RY12 (C270R)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 2299627	NM_022788.5(P2RY12):c.805G>A (p.Asp269Asn)	MED12L, P2RY12 (D269N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2865953	NM_022788.5(P2RY12):c.796G>A (p.Asp266Asn)	MED12L, P2RY12 (D266N)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 548443	NM_022788.5(P2RY12):c.794G>C (p.Arg265Pro)	P2RY12, MED12L (R265P)	Single nucleotide variant (missense variant +1 more)	Impaired ADP-induced platelet aggregation +1 more	GPathogenic/Likely pathogenic
Select item 9083	NM_022788.5(P2RY12):c.793C>T (p.Arg265Trp)	P2RY12, MED12L (R265W)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 988856	NM_022788.5(P2RY12):c.772C>A (p.Pro258Thr)	MED12L, P2RY12 (P258T)	Single nucleotide variant (missense variant +1 more)	Platelet-type bleeding disorder 8 +3 more	GPathogenic/Likely pathogenic
Select item 9082	NM_022788.5(P2RY12):c.767G>A (p.Arg256Gln)	MED12L, P2RY12 (R256Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3303804	NM_022788.5(P2RY12):c.764C>A (p.Ala255Asp)	MED12L, P2RY12 (A255D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2168742	NM_022788.5(P2RY12):c.738T>C (p.Phe246=)	MED12L, P2RY12	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2611287	NM_022788.5(P2RY12):c.730G>A (p.Val244Ile)	MED12L, P2RY12 (V244I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 9081	NM_022788.5(P2RY12):c.717_718del (p.Ile240fs)	MED12L, P2RY12 (I240fs)	Deletion (frameshift variant +1 more)	Platelet-type bleeding disorder 8	GPathogenic
Select item 3251362	NM_022788.5(P2RY12):c.705C>T (p.Asn235=)	MED12L, P2RY12	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 2991784	NM_022788.5(P2RY12):c.702G>A (p.Val234=)	MED12L, P2RY12	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1957865	NM_022788.5(P2RY12):c.673G>T (p.Gly225Cys)	MED12L, P2RY12 (G225C)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2898572	NM_022788.5(P2RY12):c.672G>A (p.Arg224=)	MED12L, P2RY12	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2753143	NM_022788.5(P2RY12):c.669G>A (p.Thr223=)	MED12L, P2RY12	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2473023	NM_022788.5(P2RY12):c.668C>T (p.Thr223Met)	MED12L, P2RY12 (T223M)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2572656	NM_022788.5(P2RY12):c.662dup (p.Arg222fs)	MED12L, P2RY12 (R222fs)	Duplication (frameshift variant +1 more)	Platelet-type bleeding disorder 8	GLikely pathogenic
Select item 1905044	NM_022788.5(P2RY12):c.655T>C (p.Ser219Pro)	MED12L, P2RY12 (S219P)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2968616	NM_022788.5(P2RY12):c.653G>A (p.Arg218Gln)	MED12L, P2RY12 (R218Q)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2833698	NM_022788.5(P2RY12):c.647T>C (p.Leu216Pro)	MED12L, P2RY12 (L216P)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2761193	NM_022788.5(P2RY12):c.640A>G (p.Lys214Glu)	MED12L, P2RY12 (K214E)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2780914	NM_022788.5(P2RY12):c.634A>T (p.Ile212Phe)	MED12L, P2RY12 (I212F)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2615269	NM_022788.5(P2RY12):c.606C>A (p.Phe202Leu)	MED12L, P2RY12 (F202L)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 627344	NM_022788.5(P2RY12):c.600T>G (p.Ile200Met)	MED12L, P2RY12 (I200M)	Single nucleotide variant (missense variant +1 more)	Impaired ADP-induced platelet aggregation	GUncertain significance
Select item 2820139	NM_022788.5(P2RY12):c.571A>T (p.Asn191Tyr)	MED12L, P2RY12 (N191Y)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3054015	NM_022788.5(P2RY12):c.561T>A (p.His187Gln)	MED12L, P2RY12 (H187Q)	Single nucleotide variant (missense variant +1 more)	P2RY12-related disorder	GLikely pathogenic
Select item 2115234	NM_022788.5(P2RY12):c.546C>T (p.Phe182=)	MED12L, P2RY12	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2712386	NM_022788.5(P2RY12):c.543G>A (p.Glu181=)	MED12L, P2RY12	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 627326	NM_022788.5(P2RY12):c.524G>A (p.Cys175Tyr)	MED12L, P2RY12 (C175Y)	Single nucleotide variant (missense variant +1 more)	Impaired ADP-induced platelet aggregation	GUncertain significance
Select item 627323	NM_022788.5(P2RY12):c.520A>G (p.Lys174Glu)	MED12L, P2RY12 (K174E)	Single nucleotide variant (missense variant +1 more)	Abnormal platelet function	GLikely pathogenic
Select item 2171303	NM_022788.5(P2RY12):c.513T>C (p.Asn171=)	MED12L, P2RY12	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3015312	NM_022788.5(P2RY12):c.501G>A (p.Pro167=)	P2RY12, MED12L	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2572166	NM_022788.5(P2RY12):c.469_470del (p.Leu157fs)	MED12L, P2RY12 (L157fs)	Deletion (frameshift variant +1 more)	Platelet-type bleeding disorder 8 +1 more	GConflicting classifications of pathogenicity
Select item 2818166	NM_022788.5(P2RY12):c.469T>C (p.Leu157=)	MED12L, P2RY12	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3366442	NM_022788.5(P2RY12):c.467C>T (p.Ser156Phe)	MED12L, P2RY12 (S156F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2998055	NM_022788.5(P2RY12):c.465C>G (p.Leu155=)	MED12L, P2RY12	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 783314	NM_022788.5(P2RY12):c.460T>C (p.Leu154=)	MED12L, P2RY12	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2174888	NM_022788.5(P2RY12):c.448G>C (p.Ala150Pro)	MED12L, P2RY12 (A150P)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1982546	NM_022788.5(P2RY12):c.415T>C (p.Leu139=)	MED12L, P2RY12	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2992353	NM_022788.5(P2RY12):c.399C>T (p.Ser133=)	MED12L, P2RY12	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2039097	NM_022788.5(P2RY12):c.380C>T (p.Thr127Ile)	MED12L, P2RY12 (T127I)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 988855	NM_022788.5(P2RY12):c.365G>A (p.Arg122His)	MED12L, P2RY12 (R122H)	Single nucleotide variant (missense variant +1 more)	not specified	GBenign
Select item 1686008	NM_022788.5(P2RY12):c.364C>T (p.Arg122Cys)	MED12L, P2RY12 (R122C)	Single nucleotide variant (missense variant +1 more)	not specified	GBenign
Select item 2071651	NM_022788.5(P2RY12):c.361G>A (p.Asp121Asn)	MED12L, P2RY12 (D121N)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2900993	NM_022788.5(P2RY12):c.360C>T (p.Ile120=)	MED12L, P2RY12	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3366803	NM_022788.5(P2RY12):c.352A>G (p.Ile118Val)	MED12L, P2RY12 (I118V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2701346	NM_022788.5(P2RY12):c.352A>T (p.Ile118Leu)	MED12L, P2RY12 (I118L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2814340	NM_022788.5(P2RY12):c.344T>C (p.Leu115Pro)	MED12L, P2RY12 (L115P)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3207679	NM_022788.5(P2RY12):c.304G>A (p.Val102Ile)	MED12L, P2RY12 (V102I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2172914	NM_022788.5(P2RY12):c.303C>T (p.Ser101=)	MED12L, P2RY12	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2816181	NM_022788.5(P2RY12):c.291T>C (p.Cys97=)	MED12L, P2RY12	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2234253	NM_022788.5(P2RY12):c.284T>C (p.Phe95Ser)	MED12L, P2RY12 (F95S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2192342	NM_022788.5(P2RY12):c.257A>G (p.Lys86Arg)	MED12L, P2RY12 (K86R)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 2888459	NM_022788.5(P2RY12):c.177T>C (p.Phe59=)	MED12L, P2RY12	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1906701	NM_022788.5(P2RY12):c.161G>A (p.Arg54Gln)	MED12L, P2RY12 (R54Q)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2434536	NM_022788.5(P2RY12):c.160C>T (p.Arg54Trp)	MED12L, P2RY12 (R54W)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2551002	NM_022788.5(P2RY12):c.141G>T (p.Met47Ile)	MED12L, P2RY12 (M47I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1903032	NM_022788.5(P2RY12):c.138G>A (p.Ala46=)	MED12L, P2RY12	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2589774	NM_022788.5(P2RY12):c.118C>T (p.Leu40Phe)	MED12L, P2RY12 (L40F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1934700	NM_022788.5(P2RY12):c.114T>C (p.Val38=)	MED12L, P2RY12	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2786832	NM_022788.5(P2RY12):c.113T>C (p.Val38Ala)	MED12L, P2RY12 (V38A)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2127207	NM_022788.5(P2RY12):c.105G>A (p.Leu35=)	MED12L, P2RY12	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2074644	NM_022788.5(P2RY12):c.85C>G (p.Pro29Ala)	MED12L, P2RY12 (P29A)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1961099	NM_022788.5(P2RY12):c.58_59del (p.Asp20fs)	MED12L, P2RY12 (D20fs)	Microsatellite (frameshift variant +1 more)	not provided	GUncertain significance
Select item 2603841	NM_022788.5(P2RY12):c.46C>G (p.Leu16Val)	MED12L, P2RY12 (L16V)	Single nucleotide variant (missense variant +1 more)	not specified	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 2190304	NM_022788.5(P2RY12):c.30G>A (p.Ala10=)	MED12L, P2RY12	Single nucleotide variant (synonymous variant +1 more)	not specified +1 more	GLikely benign
Select item 2593582	NM_022788.5(P2RY12):c.29C>T (p.Ala10Val)	MED12L, P2RY12 (A10V)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
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 2886012	NM_022788.5(P2RY12):c.13G>A (p.Asp5Asn)	MED12L, P2RY12 (D5N)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2045532	NM_022788.5(P2RY12):c.12C>T (p.Val4=)	MED12L, P2RY12	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3022244	NM_022788.5(P2RY12):c.9C>T (p.Ala3=)	MED12L, P2RY12	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1930206	NM_022788.5(P2RY12):c.2T>C (p.Met1Thr)	MED12L, P2RY12 (M1T)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1679736	NM_001393769.1(MED12L):c.2251-4T>A	MED12L, P2RY12	Single nucleotide variant (intron variant)	Nizon-Isidor syndrome	GUncertain significance
Select item 2377142	NM_001393769.1(MED12L):c.2313G>C (p.Glu771Asp)	MED12L, P2RY12 (E771D +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
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 1683388	NM_001393769.1(MED12L):c.2381G>T (p.Ser794Ile)	MED12L, P2RY12 (S759I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2549416	NM_001393769.1(MED12L):c.2387C>G (p.Thr796Arg)	MED12L, P2RY12 (T796R +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3124880	NM_001393769.1(MED12L):c.2399T>C (p.Val800Ala)	MED12L, P2RY12 (V765A +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1803712	NM_022788.5(P2RY12):c.-179-14378T>C	MED12L, P2RY12 (K806E +1 more)	Single nucleotide variant (missense variant +1 more)	MED12L-related neurodevelopmental disorder	GUncertain significance
Select item 3124881	NM_001393769.1(MED12L):c.2473C>G (p.Leu825Val)	MED12L, P2RY12 (L825V +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2096333	NM_001393769.1(MED12L):c.2485T>C (p.Ser829Pro)	MED12L, P2RY12 (S829P +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance

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