ClinVar for Gene (Select 53635) - ClinVar

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Links from Gene

Items: 60

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3311369	NM_001394010.1(PTOV1):c.731G>A (p.Gly244Asp)	PTOV1, PTOV1-AS2 (G212D +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3311368	NM_001394010.1(PTOV1):c.23C>T (p.Pro8Leu)	LOC130064947, PTOV1 +1 more (P8L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3311367	NM_001394010.1(PTOV1):c.1164C>A (p.Asn388Lys)	PTOV1 (N356K +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3311366	NM_001394010.1(PTOV1):c.1073C>T (p.Ser358Leu)	PTOV1 (S326L +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3311365	NM_001394010.1(PTOV1):c.968G>A (p.Arg323His)	PTOV1, PTOV1-AS2 (R182H +3 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3248486	NC_000019.9:g.(?_49713446)_(50413064_?)dup	ADM5, AKT1S1 +35 more	Duplication	Developmental and epileptic encephalopathy, 12	GUncertain significance
Select item 3248485	NC_000019.9:g.(?_50331686)_(50367680_?)del	MED25, PNKP +2 more	Deletion	Developmental and epileptic encephalopathy, 12	GPathogenic
Select item 3149031	NM_001394010.1(PTOV1):c.82G>A (p.Val28Met)	PTOV1, PTOV1-AS1 (V28M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3149030	NM_001394010.1(PTOV1):c.827G>A (p.Arg276Gln)	PTOV1, PTOV1-AS2 (R135Q +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3149029	NM_001394010.1(PTOV1):c.748G>C (p.Val250Leu)	PTOV1, PTOV1-AS2 (V109L +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3149028	NM_001394010.1(PTOV1):c.65G>T (p.Arg22Leu)	PTOV1, PTOV1-AS1 (R22L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3149027	NM_001394010.1(PTOV1):c.649C>G (p.Leu217Val)	PTOV1, PTOV1-AS2 (L185V +3 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3149025	NM_001394010.1(PTOV1):c.1193A>G (p.Gln398Arg)	PTOV1 (Q398R +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3062398	GRCh37/hg19 19q13.33-13.41(chr19:48905537-51614930)x3	ACP4, ADM5 +118 more	Copy number gain	not specified	GLikely pathogenic
Select item 2684892	GRCh37/hg19 19q13.33-13.43(chr19:49625130-57647352)x3	ACP4, ADM5 +261 more	Copy number gain	not provided	GLikely pathogenic
Select item 2615771	NM_001394010.1(PTOV1):c.818C>T (p.Pro273Leu)	PTOV1, PTOV1-AS2 (P132L +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2604214	NM_001394010.1(PTOV1):c.380A>G (p.Gln127Arg)	PTOV1 (Q95R +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2559555	NM_001394010.1(PTOV1):c.451A>G (p.Thr151Ala)	PTOV1 (T10A +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2548791	NM_001394010.1(PTOV1):c.587C>T (p.Ser196Phe)	PTOV1, PTOV1-AS2 (S164F +3 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2547772	NM_001394010.1(PTOV1):c.989C>T (p.Thr330Ile)	PTOV1, PTOV1-AS2 (T330I +3 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2547440	NM_001394010.1(PTOV1):c.214T>G (p.Ser72Ala)	PTOV1 (S72A +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2529708	NM_001394010.1(PTOV1):c.584T>C (p.Ile195Thr)	PTOV1, PTOV1-AS2 (I195T +3 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2527183	NM_001394010.1(PTOV1):c.335C>A (p.Thr112Asn)	PTOV1 (T112N +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2521137	NM_001394010.1(PTOV1):c.287G>T (p.Ser96Ile)	PTOV1 (S111I +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2516457	NM_001394010.1(PTOV1):c.602G>A (p.Arg201His)	PTOV1, PTOV1-AS2 (R169H +3 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2512288	NM_001394010.1(PTOV1):c.260G>A (p.Arg87Gln)	PTOV1 (R102Q +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2475207	NM_001394010.1(PTOV1):c.127G>T (p.Gly43Cys)	PTOV1, PTOV1-AS1 (G43C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2468504	NM_001394010.1(PTOV1):c.116C>T (p.Ala39Val)	PTOV1, PTOV1-AS1 (A39V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2464315	NM_001394010.1(PTOV1):c.128G>A (p.Gly43Asp)	PTOV1, PTOV1-AS1 (G43D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2455039	NM_001394010.1(PTOV1):c.765C>G (p.Asn255Lys)	PTOV1, PTOV1-AS2 (N255K +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2406946	NM_001394010.1(PTOV1):c.891G>T (p.Gln297His)	PTOV1, PTOV1-AS2 (Q297H +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2381254	NM_001394010.1(PTOV1):c.1171C>T (p.Arg391Trp)	PTOV1 (R359W +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2379870	NM_001394010.1(PTOV1):c.292G>A (p.Val98Ile)	PTOV1 (V113I +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2368956	NM_001394010.1(PTOV1):c.208G>T (p.Gly70Cys)	PTOV1 (G85C +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2357945	NM_001394010.1(PTOV1):c.130C>T (p.Pro44Ser)	PTOV1, PTOV1-AS1 (P44S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2355248	NM_001394010.1(PTOV1):c.1175G>A (p.Arg392His)	PTOV1 (R251H +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2342407	NM_001394010.1(PTOV1):c.22C>T (p.Pro8Ser)	LOC130064947, PTOV1 +1 more (P8S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2336730	NM_001394010.1(PTOV1):c.1049G>A (p.Cys350Tyr)	PTOV1 (C209Y +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2323630	NM_001394010.1(PTOV1):c.49C>G (p.Leu17Val)	PTOV1, PTOV1-AS1 (L17V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2311861	NM_001394010.1(PTOV1):c.685A>G (p.Ile229Val)	PTOV1, PTOV1-AS2 (I244V +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2307475	NM_001394010.1(PTOV1):c.125G>A (p.Arg42Gln)	PTOV1, PTOV1-AS1 (R42Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2298438	NM_001394010.1(PTOV1):c.194C>T (p.Ala65Val)	PTOV1 (A33V +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2284664	NM_001394010.1(PTOV1):c.998T>C (p.Leu333Pro)	PTOV1, PTOV1-AS2 (L301P +3 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2272635	NM_001394010.1(PTOV1):c.16C>T (p.Arg6Cys)	LOC130064947, PTOV1 +1 more (R6C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2262870	NM_001394010.1(PTOV1):c.1136T>G (p.Ile379Ser)	PTOV1 (I347S +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2247832	NM_001394010.1(PTOV1):c.38C>A (p.Ala13Asp)	PTOV1, PTOV1-AS1 (A13D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2229003	NM_001394010.1(PTOV1):c.853G>A (p.Val285Ile)	PTOV1, PTOV1-AS2 (V300I +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2204654	NM_001394010.1(PTOV1):c.17G>A (p.Arg6His)	LOC130064947, PTOV1 +1 more (R6H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1526671	GRCh37/hg19 19q13.33(chr19:50355646-50552140)	AKT1S1, ATF5 +9 more	Copy number gain	not specified	GUncertain significance
Select item 1526670	GRCh37/hg19 19q13.33-13.41(chr19:49911081-53127438)	FPR3, ZNF577 +115 more	Copy number gain	not specified	GLikely pathogenic
Select item 1346497	NC_000019.9:g.(?_49519325)_(50366015_?)dup	ADM5, ALDH16A1 +45 more	Duplication	Developmental and epileptic encephalopathy, 12	GUncertain significance
Select item 980768	GRCh37/hg19 19q13.33-13.43(chr19:48463931-57095254)x3	PPP1R15A, PPP2R1A +308 more	Copy number gain	not provided	GPathogenic
Select item 972980	GRCh37/hg19 19q13.32-13.42(chr19:47939842-54626871)	GRIN2D, GRWD1 +228 more	Copy number gain	not provided	Gnot provided
Select item 816084	GRCh37/hg19 19q13.31-13.42(chr19:44738088-53621561)x3	C5AR1, C5AR2 +293 more	Copy number gain	not provided	GPathogenic
Select item 686542	GRCh37/hg19 19q13.33(chr19:49600909-51366070)x3	C19orf81, CD37 +66 more	Copy number gain	not provided	GUncertain significance
Select item 443499	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)	PGLYRP1, PGLYRP2 +1364 more	Copy number gain	See cases	GPathogenic
Select item 443498	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3	TMC4, TMED1 +1364 more	Copy number gain	See cases	GPathogenic
Select item 207930	NM_001394010.1(PTOV1):c.635A>T (p.Lys212Met)	PTOV1, PTOV1-AS2 (K212M +3 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Long QT syndrome	GLikely benign
Select item 59117	GRCh38/hg38 19q13.33-13.43(chr19:47929575-58572206)x3	LOC130064903, LOC130064904 +1093 more	Copy number gain	See cases	GPathogenic
Select item 59116	GRCh38/hg38 19q13.33-13.43(chr19:47908540-58539965)x3	LOC130064925, LOC130064926 +1081 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 60