ClinVar for Gene (Select 53635) - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 55

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3248486	NC_000019.9:g.(?_49713446)_(50413064_?)dup	MED25, RRAS +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	CGB7, CGB8 +45 more	Duplication	Developmental and epileptic encephalopathy, 12	GUncertain significance
Select item 980768	GRCh37/hg19 19q13.33-13.43(chr19:48463931-57095254)x3	FLT3LG, FPR1 +308 more	Copy number gain	not provided	GPathogenic
Select item 972980	GRCh37/hg19 19q13.32-13.42(chr19:47939842-54626871)	FUZ, GARIN5A +228 more	Copy number gain	not provided	Gnot provided
Select item 816084	GRCh37/hg19 19q13.31-13.42(chr19:44738088-53621561)x3	CLDND2, IGSF23 +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)	BICRA, BLOC1S3 +1364 more	Copy number gain	See cases	GPathogenic
Select item 443498	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3	A1BG, ABCA7 +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	LOC130064933, LOC130064934 +1093 more	Copy number gain	See cases	GPathogenic
Select item 59116	GRCh38/hg38 19q13.33-13.43(chr19:47908540-58539965)x3	ZBTB45, ZFP28 +1081 more	Copy number gain	See cases	GPathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from Gene

Items: 55