7941[geneid] - ClinVar

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Items: 67

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155430	GRCh38/hg38 6p25.3-12.3(chr6:156974-46789291)x3	ILRUN-AS1, IP6K3 +2582 more	Copy number gain	See cases	GPathogenic
Select item 146275	GRCh38/hg38 6p21.1-12.3(chr6:44985760-47986838)x3	ADGRF1, ADGRF2 +78 more	Copy number gain	See cases	GLikely pathogenic
Select item 149301	GRCh38/hg38 6p21.1-12.1(chr6:45681671-54212044)x1	GSTA3, GSTA4 +228 more	Copy number loss	See cases	GPathogenic
Select item 709898	NM_005084.4(PLA2G7):c.1284C>T (p.His428=)	PLA2G7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2627278	NM_005084.4(PLA2G7):c.1277A>G (p.Asn426Ser)	PLA2G7 (N426S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2344617	NM_005084.4(PLA2G7):c.1229A>G (p.Glu410Gly)	PLA2G7 (E410G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1252749	NM_005084.4(PLA2G7):c.1190-23_1190-20del	PLA2G7	Deletion (intron variant)	not provided	GBenign
Select item 7916	NM_005084.4(PLA2G7):c.1136T>C (p.Val379Ala)	PLA2G7 (V379A)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3307218	NM_005084.4(PLA2G7):c.1102A>G (p.Met368Val)	PLA2G7 (M368V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3214189	NM_005084.4(PLA2G7):c.1067A>G (p.Asp356Gly)	PLA2G7 (D356G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2589450	NM_005084.4(PLA2G7):c.1066G>T (p.Asp356Tyr)	PLA2G7 (D356Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3233612	NM_005084.4(PLA2G7):c.1041-17G>A	PLA2G7	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 2602909	NM_005084.4(PLA2G7):c.875G>T (p.Gly292Val)	PLA2G7 (G292V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 225441	NM_005084.4(PLA2G7):c.870-2A>G	PLA2G7	Single nucleotide variant (splice acceptor variant)	Platelet-activating factor acetylhydrolase deficiency	GUncertain significance
Select item 3374890	NM_005084.4(PLA2G7):c.870-3C>A	PLA2G7	Single nucleotide variant (intron variant)	not specified	GUncertain significance
Select item 7914	NM_005084.4(PLA2G7):c.835G>T (p.Val279Phe)	PLA2G7 (V279F)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2331675	NM_005084.4(PLA2G7):c.797A>G (p.Lys266Arg)	PLA2G7 (K266R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2616961	NM_005084.4(PLA2G7):c.794A>G (p.Glu265Gly)	PLA2G7 (E265G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2395665	NM_005084.4(PLA2G7):c.787G>A (p.Asp263Asn)	PLA2G7 (D263N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3068198	NM_005084.4(PLA2G7):c.777+16T>C	PLA2G7	Single nucleotide variant (intron variant)	Platelet-activating factor acetylhydrolase deficiency	GUncertain significance
Select item 2637778	NM_005084.4(PLA2G7):c.774G>A (p.Leu258=)	PLA2G7	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 723503	NM_005084.4(PLA2G7):c.696T>C (p.Ala232=)	PLA2G7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2239948	NM_005084.4(PLA2G7):c.686G>A (p.Cys229Tyr)	PLA2G7 (C229Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 548515	NM_005084.4(PLA2G7):c.680_681dup (p.Glu228fs)	PLA2G7 (E228fs)	Duplication (frameshift variant)	Platelet-activating factor acetylhydrolase deficiency	GUncertain significance
Select item 3214196	NM_005084.4(PLA2G7):c.677C>G (p.Ala226Gly)	PLA2G7 (A226G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3214195	NM_005084.4(PLA2G7):c.668G>A (p.Arg223Gln)	PLA2G7 (R223Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2682606	NM_005084.4(PLA2G7):c.667C>T (p.Arg223Trp)	PLA2G7 (R223W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 488191	NM_005084.4(PLA2G7):c.663+1G>A	PLA2G7	Single nucleotide variant (splice donor variant)	not specified	GUncertain significance
Select item 3214194	NM_005084.4(PLA2G7):c.634G>A (p.Glu212Lys)	PLA2G7 (E212K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2369213	NM_005084.4(PLA2G7):c.613T>C (p.Tyr205His)	PLA2G7 (Y205H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2290444	NM_005084.4(PLA2G7):c.595G>A (p.Gly199Arg)	PLA2G7 (G199R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 7915	NM_005084.4(PLA2G7):c.593T>C (p.Ile198Thr)	PLA2G7 (I198T)	Single nucleotide variant (missense variant)	PLA2G7-related disorder +1 more	GBenign
Select item 720948	NM_005084.4(PLA2G7):c.573G>C (p.Lys191Asn)	PLA2G7 (K191N)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2509125	NM_005084.4(PLA2G7):c.521T>C (p.Val174Ala)	PLA2G7 (V174A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3214193	NM_005084.4(PLA2G7):c.512G>A (p.Gly171Glu)	PLA2G7 (G171E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3307219	NM_005084.4(PLA2G7):c.487A>C (p.Ile163Leu)	PLA2G7 (I163L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3214192	NM_005084.4(PLA2G7):c.475C>A (p.Leu159Ile)	PLA2G7 (L159I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 1028854	NM_005084.4(PLA2G7):c.470+1G>A	PLA2G7	Single nucleotide variant (splice donor variant)	Platelet-activating factor acetylhydrolase deficiency	GLikely pathogenic
Select item 3214191	NM_005084.4(PLA2G7):c.466T>G (p.Phe156Val)	PLA2G7 (F156V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2225438	NM_005084.4(PLA2G7):c.434C>T (p.Pro145Leu)	PLA2G7 (P145L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2398462	NM_005084.4(PLA2G7):c.433C>T (p.Pro145Ser)	PLA2G7 (P145S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2271077	NM_005084.4(PLA2G7):c.422G>A (p.Gly141Asp)	PLA2G7 (G141D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2361801	NM_005084.4(PLA2G7):c.410C>T (p.Pro137Leu)	PLA2G7 (P137L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 488845	NM_005084.4(PLA2G7):c.402G>A (p.Trp134Ter)	PLA2G7 (W134*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 3336260	NM_005084.4(PLA2G7):c.376+11T>C	PLA2G7	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 3214190	NM_005084.4(PLA2G7):c.370C>T (p.Leu124Phe)	PLA2G7 (L124F)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2411107	NM_005084.4(PLA2G7):c.357C>A (p.Asn119Lys)	PLA2G7 (N119K)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2224637	NM_005084.4(PLA2G7):c.329T>C (p.Phe110Ser)	PLA2G7 (F110S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 56163	NM_005084.4(PLA2G7):c.275G>A (p.Arg92His)	PLA2G7 (R92H)	Single nucleotide variant (missense variant)	PLA2G7-related disorder	GBenign
Select item 2431694	NM_005084.4(PLA2G7):c.251A>G (p.Tyr84Cys)	PLA2G7 (Y84C)	Single nucleotide variant (missense variant)	Platelet-activating factor acetylhydrolase deficiency	GUncertain significance
Select item 3339800	NM_005084.4(PLA2G7):c.245G>A (p.Arg82His)	PLA2G7 (R82H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3307216	NM_005084.4(PLA2G7):c.235A>G (p.Thr79Ala)	PLA2G7 (T79A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3043035	NM_005084.4(PLA2G7):c.222C>T (p.His74=)	PLA2G7	Single nucleotide variant (synonymous variant)	PLA2G7-related disorder	GLikely benign
Select item 1050414	NM_005084.4(PLA2G7):c.193G>A (p.Val65Ile)	PLA2G7 (V65I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3336112	NM_005084.4(PLA2G7):c.172C>T (p.Arg58Trp)	PLA2G7 (R58W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3044279	NM_005084.4(PLA2G7):c.151T>A (p.Phe51Ile)	PLA2G7 (F51I)	Single nucleotide variant (missense variant)	PLA2G7-related disorder	GLikely benign
Select item 2344618	NM_005084.4(PLA2G7):c.126A>G (p.Ile42Met)	PLA2G7 (I42M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3065950	NM_005084.4(PLA2G7):c.109+2T>C	PLA2G7	Single nucleotide variant (splice donor variant)	Platelet-activating factor acetylhydrolase deficiency	GLikely pathogenic
Select item 3307217	NM_005084.4(PLA2G7):c.102A>C (p.Lys34Asn)	PLA2G7 (K34N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3214197	NM_005084.4(PLA2G7):c.95A>G (p.His32Arg)	PLA2G7 (H32R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3233480	NM_005084.4(PLA2G7):c.39C>T (p.Cys13=)	PLA2G7	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 2357179	NM_005084.4(PLA2G7):c.4G>A (p.Val2Met)	PLA2G7 (V2M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1676306	GRCh37/hg19 6p21.1-q12(chr6:43636308-64947206)x3	PAQR8, PGK2 +92 more	Copy number gain	not provided	GLikely pathogenic
Select item 1527236	GRCh37/hg19 6p21.1-12.3(chr6:43636308-50947320)	ADGRF5, ANKRD66 +50 more	Copy number loss	not specified	GPathogenic
Select item 625706	GRCh37/hg19 6p22.1-q14.1(chr6:29455465-81447367)	ERVH-3, ETV7 +427 more	Copy number gain	not provided	GPathogenic
Select item 443497	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)	AARS2, ABCC10 +1028 more	Copy number gain	See cases	GPathogenic
Select item 443496	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3	RING1, RIOK1 +1028 more	Copy number gain	See cases	GPathogenic

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Items: 67