ClinVar for Gene (Select 375775) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3308200	NM_001098537.3(PNPLA7):c.2147A>C (p.His716Pro)	PNPLA7 (H691P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3308199	NM_001098537.3(PNPLA7):c.2065G>A (p.Asp689Asn)	PNPLA7 (D689N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3308198	NM_001098537.3(PNPLA7):c.3010A>G (p.Met1004Val)	PNPLA7 (M1004V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3308197	NM_001098537.3(PNPLA7):c.3401G>A (p.Arg1134Gln)	PNPLA7 (R1109Q +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3308196	NM_001098537.3(PNPLA7):c.1573G>T (p.Val525Phe)	LOC108281113, PNPLA7 (V525F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3308195	NM_001098537.3(PNPLA7):c.3212G>A (p.Arg1071Gln)	PNPLA7 (R1071Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3308194	NM_001098537.3(PNPLA7):c.664A>G (p.Thr222Ala)	PNPLA7 (T197A +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3308193	NM_001098537.3(PNPLA7):c.3428G>C (p.Gly1143Ala)	PNPLA7 (G1143A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3308192	NM_001098537.3(PNPLA7):c.1743G>C (p.Lys581Asn)	LOC108281113, PNPLA7 (K581N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3308191	NM_001098537.3(PNPLA7):c.795G>A (p.Pro265=)	PNPLA7	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3308190	NM_001098537.3(PNPLA7):c.2735T>A (p.Val912Asp)	PNPLA7 (V887D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3308189	NM_001098537.3(PNPLA7):c.2750G>A (p.Ser917Asn)	PNPLA7 (S892N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3308188	NM_001098537.3(PNPLA7):c.1840G>A (p.Asp614Asn)	PNPLA7 (D589N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3308187	NM_001098537.3(PNPLA7):c.2791C>T (p.Arg931Trp)	PNPLA7 (R931W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3308186	NM_001098537.3(PNPLA7):c.1141G>A (p.Val381Ile)	PNPLA7 (V381I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3308185	NM_001098537.3(PNPLA7):c.3277C>T (p.Pro1093Ser)	PNPLA7 (P1093S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3308184	NM_001098537.3(PNPLA7):c.3268G>A (p.Gly1090Ser)	PNPLA7 (G1065S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3308183	NM_001098537.3(PNPLA7):c.2665C>T (p.Arg889Cys)	PNPLA7 (R864C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3308182	NM_001098537.3(PNPLA7):c.281C>T (p.Thr94Ile)	PNPLA7 (T69I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3242302	GRCh37/hg19 9q34.3(chr9:140396737-140574545)x1	ARRDC1, DPH7 +4 more	Copy number loss	not provided	GLikely pathogenic
Select item 3216119	NM_001098537.3(PNPLA7):c.983C>A (p.Ser328Tyr)	PNPLA7 (S303Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3216118	NM_001098537.3(PNPLA7):c.967G>A (p.Ala323Thr)	PNPLA7 (A323T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3216117	NM_001098537.3(PNPLA7):c.821C>T (p.Ala274Val)	PNPLA7 (A249V +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3216116	NM_001098537.3(PNPLA7):c.821C>A (p.Ala274Glu)	PNPLA7 (A274E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3216115	NM_001098537.3(PNPLA7):c.794C>T (p.Pro265Leu)	PNPLA7 (P265L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3216114	NM_001098537.3(PNPLA7):c.781C>T (p.Arg261Cys)	PNPLA7 (R236C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3216113	NM_001098537.3(PNPLA7):c.701C>A (p.Ala234Glu)	PNPLA7 (A209E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3216112	NM_001098537.3(PNPLA7):c.646G>C (p.Glu216Gln)	PNPLA7 (E216Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3216111	NM_001098537.3(PNPLA7):c.458A>G (p.Lys153Arg)	PNPLA7 (K128R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3216110	NM_001098537.3(PNPLA7):c.454G>A (p.Val152Met)	PNPLA7 (V127M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3216109	NM_001098537.3(PNPLA7):c.453C>G (p.Asp151Glu)	PNPLA7 (D151E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3216108	NM_001098537.3(PNPLA7):c.392C>T (p.Pro131Leu)	PNPLA7 (P106L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3216107	NM_001098537.3(PNPLA7):c.3860C>A (p.Thr1287Lys)	PNPLA7 (T1262K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3216106	NM_001098537.3(PNPLA7):c.374G>A (p.Arg125His)	PNPLA7 (R100H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3216105	NM_001098537.3(PNPLA7):c.3697G>A (p.Gly1233Ser)	PNPLA7 (G1208S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3216104	NM_001098537.3(PNPLA7):c.3487G>A (p.Val1163Ile)	PNPLA7 (V1138I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3216103	NM_001098537.3(PNPLA7):c.3472C>A (p.Pro1158Thr)	PNPLA7 (P1133T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3216101	NM_001098537.3(PNPLA7):c.3425A>G (p.Tyr1142Cys)	PNPLA7 (Y1142C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3216100	NM_001098537.3(PNPLA7):c.3258G>A (p.Met1086Ile)	PNPLA7 (M1061I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3216099	NM_001098537.3(PNPLA7):c.3233T>G (p.Leu1078Arg)	PNPLA7 (L1078R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3216098	NM_001098537.3(PNPLA7):c.3037G>A (p.Glu1013Lys)	PNPLA7 (E1013K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3216097	NM_001098537.3(PNPLA7):c.3023C>T (p.Ala1008Val)	PNPLA7 (A983V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3216096	NM_001098537.3(PNPLA7):c.2986T>C (p.Ser996Pro)	PNPLA7 (S971P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3216095	NM_001098537.3(PNPLA7):c.2883A>T (p.Arg961Ser)	PNPLA7 (R936S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3216094	NM_001098537.3(PNPLA7):c.2671G>A (p.Val891Met)	PNPLA7 (V866M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3216093	NM_001098537.3(PNPLA7):c.2663C>T (p.Ala888Val)	PNPLA7 (A863V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3216092	NM_001098537.3(PNPLA7):c.2588G>A (p.Arg863Gln)	PNPLA7 (R863Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3216091	NM_001098537.3(PNPLA7):c.2504G>C (p.Trp835Ser)	PNPLA7 (W835S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3216089	NM_001098537.3(PNPLA7):c.2137C>T (p.Arg713Trp)	PNPLA7 (R713W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3216088	NM_001098537.3(PNPLA7):c.2107A>G (p.Ile703Val)	PNPLA7 (I678V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3216087	NM_001098537.3(PNPLA7):c.2039G>A (p.Arg680Gln)	PNPLA7 (R655Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3216086	NM_001098537.3(PNPLA7):c.1820C>T (p.Ser607Leu)	PNPLA7 (S607L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3216085	NM_001098537.3(PNPLA7):c.1756G>C (p.Glu586Gln)	LOC108281113, PNPLA7 (E561Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3216084	NM_001098537.3(PNPLA7):c.1744G>A (p.Ala582Thr)	LOC108281113, PNPLA7 (A557T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3216083	NM_001098537.3(PNPLA7):c.1725C>G (p.Ser575Arg)	LOC108281113, PNPLA7 (S575R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3216082	NM_001098537.3(PNPLA7):c.1642C>T (p.Arg548Cys)	LOC108281113, PNPLA7 (R523C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3216081	NM_001098537.3(PNPLA7):c.1527G>A (p.Thr509=)	LOC108281113, PNPLA7	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3216080	NM_001098537.3(PNPLA7):c.1502C>T (p.Ala501Val)	LOC108281113, PNPLA7 (A501V +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3216079	NM_001098537.3(PNPLA7):c.1391C>G (p.Thr464Arg)	PNPLA7 (T439R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3216078	NM_001098537.3(PNPLA7):c.1231C>G (p.Pro411Ala)	PNPLA7 (P386A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3216077	NM_001098537.3(PNPLA7):c.1199G>A (p.Gly400Asp)	PNPLA7 (G375D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3216076	NM_001098537.3(PNPLA7):c.1174G>A (p.Glu392Lys)	PNPLA7 (E392K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3216075	NM_001098537.3(PNPLA7):c.1164A>T (p.Lys388Asn)	PNPLA7 (K363N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3216074	NM_001098537.3(PNPLA7):c.1033G>A (p.Glu345Lys)	PNPLA7 (E345K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3067298	NM_001098537.3(PNPLA7):c.256C>T (p.Arg86Trp)	PNPLA7 (R61W +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3063071	GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020389)x3	DMAC1, DMRT1 +769 more	Copy number gain	not specified	GPathogenic
Select item 2684590	GRCh37/hg19 9q34.2-34.3(chr9:136988996-141020389)x3	ABCA2, AGPAT2 +95 more	Copy number gain	not provided	GPathogenic
Select item 2671589	Single allele	ARRDC1, CACNA1B +6 more	Deletion	not provided	GPathogenic
Select item 2659830	NM_001098537.3(PNPLA7):c.95C>T (p.Pro32Leu)	PNPLA7 (P32L)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2659829	NM_001098537.3(PNPLA7):c.118G>A (p.Ala40Thr)	PNPLA7 (A15T +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2659828	NM_001098537.3(PNPLA7):c.453C>T (p.Asp151=)	PNPLA7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2659827	NM_001098537.3(PNPLA7):c.1191C>T (p.Pro397=)	PNPLA7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2659826	NM_001098537.3(PNPLA7):c.2803C>T (p.Arg935Ter)	PNPLA7 (R910* +1 more)	Single nucleotide variant (nonsense)	not provided	GBenign
Select item 2659825	NM_001098537.3(PNPLA7):c.2892C>T (p.Ala964=)	PNPLA7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2659824	NM_001098537.3(PNPLA7):c.3039+8G>A	PNPLA7	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2659823	NM_001098537.3(PNPLA7):c.3540C>T (p.Cys1180=)	PNPLA7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2622336	NM_001098537.3(PNPLA7):c.3096G>A (p.Met1032Ile)	PNPLA7 (M1007I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2620170	NM_001098537.3(PNPLA7):c.1541A>T (p.Gln514Leu)	LOC108281113, PNPLA7 (Q489L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2618335	NM_001098537.3(PNPLA7):c.2452G>A (p.Glu818Lys)	PNPLA7 (E818K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2606486	NM_001098537.3(PNPLA7):c.2819C>T (p.Ser940Phe)	PNPLA7 (S940F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2600078	NM_001098537.3(PNPLA7):c.1159C>T (p.Arg387Cys)	PNPLA7 (R387C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2597421	NM_001098537.3(PNPLA7):c.80C>T (p.Thr27Met)	PNPLA7 (T27M)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2593873	NM_001098537.3(PNPLA7):c.225C>G (p.Phe75Leu)	PNPLA7 (F75L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2589725	NM_001098537.3(PNPLA7):c.835G>A (p.Val279Ile)	PNPLA7 (V254I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2576638	GRCh37/hg19 9q34.3(chr9:140351824-140772481)x3	ARRDC1, CACNA1B +7 more	Copy number gain	9q34.3 microduplication-related neurodevelopmental disorder	GLikely pathogenic
Select item 2576637	GRCh37/hg19 9q34.3(chr9:140372234-140905328)x3	ARRDC1, CACNA1B +6 more	Copy number gain	9q34.3 microduplication-related neurodevelopmental disorder	GLikely pathogenic
Select item 2576635	GRCh37/hg19 9q34.3(chr9:140277524-140762652)x3	DPH7, NSMF +9 more	Copy number gain	9q34.3 microduplication-related neurodevelopmental disorder	GLikely pathogenic
Select item 2576634	GRCh37/hg19 9q34.3(chr9:140327663-140756825)x3	ARRDC1, DPH7 +8 more	Copy number gain	9q34.3 microduplication-related neurodevelopmental disorder	GLikely pathogenic
Select item 2576633	GRCh37/hg19 9q34.3(chr9:140233379-140756825)x3	ZMYND19, ARRDC1 +9 more	Copy number gain	9q34.3 microduplication-related neurodevelopmental disorder	GLikely pathogenic
Select item 2576632	GRCh37/hg19 9q34.3(chr9:140014769-140930811)x3	ANAPC2, ARRDC1 +28 more	Copy number gain	9q34.3 microduplication-related neurodevelopmental disorder	GLikely pathogenic
Select item 2576631	GRCh37/hg19 9q34.3(chr9:139972953-140954193)x3	ANAPC2, ARRDC1 +31 more	Copy number gain	9q34.3 microduplication-related neurodevelopmental disorder	GLikely pathogenic
Select item 2576630	GRCh37/hg19 9q34.3(chr9:139685408-141050580)x3	ABCA2, AJM1 +52 more	Copy number gain	9q34.3 microduplication-related neurodevelopmental disorder	GLikely pathogenic
Select item 2576628	GRCh37/hg19 9q34.3(chr9:139942000-141074000)x3	ANAPC2, ARRDC1 +33 more	Copy number gain	9q34.3 microduplication-related neurodevelopmental disorder	GLikely pathogenic
Select item 2549633	NM_001098537.3(PNPLA7):c.2605G>C (p.Ala869Pro)	PNPLA7 (A869P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2548050	NM_001098537.3(PNPLA7):c.1643G>A (p.Arg548His)	LOC108281113, PNPLA7 (R548H +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2547488	NM_001098537.3(PNPLA7):c.2114G>A (p.Arg705His)	PNPLA7 (R680H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2539480	NM_001098537.3(PNPLA7):c.2341G>A (p.Ala781Thr)	PNPLA7 (A756T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2533772	NM_001098537.3(PNPLA7):c.2565G>T (p.Glu855Asp)	PNPLA7 (E855D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2528926	NM_001098537.3(PNPLA7):c.3639G>T (p.Glu1213Asp)	PNPLA7 (E1213D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2519900	NM_001098537.3(PNPLA7):c.3410C>T (p.Thr1137Met)	PNPLA7 (T1112M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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