ClinVar for Gene (Select 2159) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3242333	GRCh37/hg19 13q32.3-34(chr13:99892724-115108414)x3	ABHD13, ADPRHL1 +66 more	Copy number gain	not provided	GPathogenic
Select item 3241997	NM_000504.4(F10):c.1094G>C (p.Gly365Ala)	F10 (G321A +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary factor X deficiency disease	GUncertain significance
Select item 3148913	GRCh37/hg19 13q34(chr13:112071769-115107733)x3	ADPRHL1, ATP11A +23 more	Copy number gain	not provided	GUncertain significance
Select item 3091384	NM_000504.4(F10):c.912G>C (p.Glu304Asp)	F10 (E260D +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3091383	NM_000504.4(F10):c.538A>G (p.Arg180Gly)	F10 (R180G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3091382	NM_000504.4(F10):c.32G>T (p.Ser11Ile)	F10 (S11I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3091381	NM_000504.4(F10):c.1448C>T (p.Thr483Met)	F10 (T439M +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3091380	NM_000504.4(F10):c.1228A>C (p.Lys410Gln)	F10 (K366Q +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3065348	NM_000504.4(F10):c.815T>C (p.Leu272Pro)	F10 (L228P +1 more)	Single nucleotide variant (missense variant)	Hereditary factor X deficiency disease	GLikely pathogenic
Select item 3063309	GRCh37/hg19 13q31.1-34(chr13:84669397-115107733)x1	ABCC4, ABHD13 +97 more	Copy number loss	not specified	GPathogenic
Select item 3063307	GRCh37/hg19 13q33.1-34(chr13:102421732-115107733)x1	ABHD13, ADPRHL1 +54 more	Copy number loss	not specified	GPathogenic
Select item 3063302	GRCh37/hg19 13q33.2-34(chr13:106430837-114763645)x3	ABHD13, ADPRHL1 +39 more	Copy number gain	not specified	GUncertain significance
Select item 3063300	GRCh37/hg19 13q33.1-34(chr13:103149209-115107733)x1	ABHD13, ADPRHL1 +53 more	Copy number loss	not specified	GPathogenic
Select item 3063294	GRCh37/hg19 13q31.1-34(chr13:82876219-115107733)x3	ABCC4, ABHD13 +98 more	Copy number gain	not specified	GPathogenic
Select item 3063291	GRCh37/hg19 13q33.2-34(chr13:105761074-115107733)x1	ABHD13, ADPRHL1 +44 more	Copy number loss	not specified	GPathogenic
Select item 3063290	GRCh37/hg19 13q33.1-34(chr13:104389334-115107733)x1	ABHD13, ADPRHL1 +44 more	Copy number loss	not specified	GPathogenic
Select item 3063287	GRCh37/hg19 13q33.2-34(chr13:106591678-115107733)x1	ABHD13, ADPRHL1 +42 more	Copy number loss	not specified	GPathogenic
Select item 3061236	NM_000504.4(F10):c.1093G>A (p.Gly365Arg)	F10 (G321R +1 more)	Single nucleotide variant (missense variant +1 more)	F10-related disorder	GUncertain significance
Select item 3036343	NM_000504.4(F10):c.777T>C (p.Gly259=)	F10	Single nucleotide variant (synonymous variant)	F10-related disorder	GLikely benign
Select item 3024583	GRCh37/hg19 13q34(chr13:113158346-115091756)x1	LAMP1, MCF2L +21 more	Copy number loss	not provided	GPathogenic
Select item 2685475	GRCh37/hg19 13q31.1-34(chr13:82131211-115107733)x1	ABCC4, ABHD13 +98 more	Copy number loss	not provided	GPathogenic
Select item 2684710	GRCh37/hg19 13q34(chr13:113445520-113818780)x3	ATP11A, F10 +3 more	Copy number gain	not provided	GUncertain significance
Select item 2684705	GRCh37/hg19 13q22.1-34(chr13:73488238-115107733)x3	ABCC4, ABHD13 +121 more	Copy number gain	not provided	GPathogenic
Select item 2684703	GRCh37/hg19 13q21.2-34(chr13:61534068-115107733)x3	ABCC4, ABHD13 +129 more	Copy number gain	not provided	GPathogenic
Select item 2683244	NM_000504.4(F10):c.328T>C (p.Cys110Arg)	F10 (C110R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2643982	NC_000013.11:g.113153944C>A	F10	Single nucleotide variant	not provided	GLikely benign
Select item 2643981	NM_000504.4(F10):c.30C>T (p.Leu10=)	F10	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2579202	GRCh38/hg38 13q33.3-34(chr13:106425676-114326445)x1	LOC130010165, LOC130010166 +312 more	Copy number loss	Chromosome 13q33-q34 deletion syndrome	GPathogenic
Select item 2576481	NM_000504.4(F10):c.323A>T (p.Tyr108Phe)	F10 (Y108F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2572143	NM_000504.4(F10):c.212T>C (p.Phe71Ser)	F10, F10-AS1 (F71S)	Single nucleotide variant (missense variant)	Hereditary factor X deficiency disease	GLikely pathogenic
Select item 2572129	NM_000504.4(F10):c.1036C>T (p.Arg346Cys)	F10 (R302C +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary factor X deficiency disease	GLikely pathogenic
Select item 2572121	NM_000504.4(F10):c.119G>C (p.Arg40Thr)	F10, F10-AS1 (R40T)	Single nucleotide variant (missense variant)	Hereditary factor X deficiency disease	GLikely pathogenic
Select item 2547739	NM_000504.4(F10):c.1270G>C (p.Val424Leu)	F10 (V380L +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2543962	NM_000504.4(F10):c.77T>C (p.Ile26Thr)	F10, F10-AS1 (I26T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2505502	NM_000504.4(F10):c.305_306del (p.Lys102fs)	F10 (K102fs)	Deletion (frameshift variant)	Hereditary factor X deficiency disease	GLikely pathogenic
Select item 2505501	NM_000504.4(F10):c.299_300del (p.Lys100fs)	F10 (K100fs)	Deletion (frameshift variant)	Hereditary factor X deficiency disease	GLikely pathogenic
Select item 2505500	NM_000504.4(F10):c.248_251del (p.Lys83fs)	F10 (K83fs)	Microsatellite (frameshift variant)	Hereditary factor X deficiency disease	GLikely pathogenic
Select item 2505499	NM_000504.4(F10):c.167A>G (p.Glu56Gly)	F10, F10-AS1 (E56G)	Single nucleotide variant (missense variant)	Hereditary factor X deficiency disease	GLikely pathogenic
Select item 2505498	NM_000504.4(F10):c.256G>A (p.Asp86Asn)	F10 (D86N)	Single nucleotide variant (missense variant)	Hereditary factor X deficiency disease	GLikely pathogenic
Select item 2505497	NM_000504.4(F10):c.270T>A (p.Cys90Ter)	F10 (C90*)	Single nucleotide variant (nonsense)	Hereditary factor X deficiency disease	GLikely pathogenic
Select item 2401719	NM_000504.4(F10):c.749C>T (p.Ala250Val)	F10 (A250V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2295729	NM_000504.4(F10):c.1369G>A (p.Ala457Thr)	F10 (A413T +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2265295	NM_000504.4(F10):c.279T>A (p.Ser93Arg)	F10 (S93R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2239888	NM_000504.4(F10):c.174G>A (p.Met58Ile)	F10, F10-AS1 (M58I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1809298	GRCh37/hg19 13q32.3-34(chr13:99421603-115107733)x3	ABHD13, ADPRHL1 +67 more	Copy number gain	not provided	GPathogenic
Select item 1808983	GRCh37/hg19 13q32.1-34(chr13:97142120-115107733)x1	ABHD13, ADPRHL1 +76 more	Copy number loss	not provided	GPathogenic
Select item 1808284	GRCh37/hg19 13q34(chr13:113196617-113800575)x1	ATP11A, ATP11AUN +4 more	Copy number loss	not provided	GUncertain significance
Select item 1807731	GRCh37/hg19 13q22.1-34(chr13:75268539-115107733)x3	ABCC4, ABHD13 +116 more	Copy number gain	not provided	GPathogenic
Select item 1710518	GRCh37/hg19 13q11-34(chr13:19253848-115108937)x3	CCDC169-SOHLH2, CCDC70 +332 more	Copy number gain	not provided	GPathogenic
Select item 1707756	NM_000504.4(F10):c.902C>T (p.Ala301Val)	F10 (A257V +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1707439	GRCh37/hg19 13q31.2-34(chr13:89490345-115062235)x3	ABCC4, ABHD13 +93 more	Copy number gain	See cases	GPathogenic
Select item 1703573	GRCh37/hg19 13p13-q34(chr13:1-115169878)	PCID2, PCOTH +332 more	Copy number gain	Complete trisomy 13 syndrome	GPathogenic
Select item 1703542	GRCh37/hg19 13q34(chr13:110428062-115107733)	ADPRHL1, ANKRD10 +35 more	Copy number loss	Neurodevelopmental delay	GPathogenic
Select item 1703258	NM_000504.4(F10):c.232-2563_503-451del	F10	Deletion (splice acceptor variant +1 more)	Hereditary factor X deficiency disease	GLikely pathogenic
Select item 1684490	NM_000504.4(F10):c.837C>A (p.Tyr279Ter)	F10 (Y235* +1 more)	Single nucleotide variant (nonsense)	Hereditary factor X deficiency disease	GPathogenic
Select item 1684310	NM_000504.4(F10):c.1097G>A (p.Arg366His)	F10 (R322H +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary factor X deficiency disease	GLikely pathogenic
Select item 1684309	NM_000504.4(F10):c.1252G>C (p.Asp418His)	F10 (D374H +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary factor X deficiency disease	GLikely pathogenic
Select item 1684308	NM_000504.4(F10):c.162_163del (p.Glu56fs)	F10, F10-AS1 (E56fs)	Deletion (frameshift variant)	Hereditary factor X deficiency disease	GPathogenic
Select item 1684307	NM_000504.4(F10):c.205G>A (p.Glu69Lys)	F10, F10-AS1 (E69K)	Single nucleotide variant (missense variant)	Hereditary factor X deficiency disease	GLikely pathogenic
Select item 1684306	NM_000504.4(F10):c.231G>C (p.Thr77=)	F10, F10-AS1	Single nucleotide variant (synonymous variant)	Hereditary factor X deficiency disease	GUncertain significance
Select item 1679953	NM_000504.4(F10):c.1073C>T (p.Thr358Met)	F10 (T314M +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary factor X deficiency disease	GLikely pathogenic
Select item 1676735	NM_000504.4(F10):c.1351A>C (p.Ile451Leu)	F10 (I407L +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary factor X deficiency disease	GLikely pathogenic
Select item 1676734	NM_000504.4(F10):c.947A>G (p.Lys316Arg)	F10 (K272R +2 more)	Single nucleotide variant (missense variant)	Hereditary factor X deficiency disease +1 more	GConflicting classifications of pathogenicity
Select item 1527798	GRCh37/hg19 13q33.2-34(chr13:106450862-115107733)	ABHD13, ADPRHL1 +42 more	Copy number loss	not specified	GPathogenic
Select item 1527797	GRCh37/hg19 13q33.2-34(chr13:106056749-115107733)	ABHD13, ADPRHL1 +44 more	Copy number loss	not specified	GPathogenic
Select item 1527796	GRCh37/hg19 13q33.1-34(chr13:104545892-115107733)	ABHD13, ADPRHL1 +44 more	Copy number loss	not specified	GPathogenic
Select item 1527791	GRCh37/hg19 13q32.3-34(chr13:100258328-115107733)	ABHD13, ADPRHL1 +62 more	Copy number loss	not specified	GPathogenic
Select item 1527788	GRCh37/hg19 13q31.2-34(chr13:88073140-115107733)	EFNB2, ERCC5 +96 more	Copy number loss	not specified	GPathogenic
Select item 1527787	GRCh37/hg19 13q31.1-34(chr13:85037147-115107733)	DCUN1D2, DNAJC3 +97 more	Copy number gain	not specified	GPathogenic
Select item 1527786	GRCh37/hg19 13q31.1-34(chr13:79370012-115107733)	F10, F7 +101 more	Copy number loss	not specified	GPathogenic
Select item 1527785	GRCh37/hg19 13q22.3-34(chr13:78514567-115107733)	ITGBL1, LAMP1 +104 more	Copy number gain	not specified	GPathogenic
Select item 1527777	GRCh37/hg19 13q21.2-34(chr13:61424168-115107733)	ABCC4, ABHD13 +129 more	Copy number gain	not specified	GPathogenic
Select item 1527750	GRCh37/hg19 13q11-34(chr13:19436286-115107733)	ABCC4, DNAJC15 +332 more	Copy number gain	not specified	GPathogenic
Select item 1527749	GRCh37/hg19 13q11-34(chr13:19436286-114981726)	ZMYM5, SPATA13 +329 more	Copy number gain	not specified	GPathogenic
Select item 1341356	NM_000504.4(F10):c.1216G>A (p.Gly406Ser)	F10 (G362S +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary factor X deficiency disease	GPathogenic
Select item 1341081	GRCh37/hg19 13q11-34(chr13:19436286-115107733)x3	ARGLU1, FBXL3 +332 more	Copy number gain	not provided	GPathogenic
Select item 1340736	GRCh37/hg19 13q34(chr13:113536131-113875644)x3	ATP11A, CUL4A +5 more	Copy number gain	not provided	GUncertain significance
Select item 1340720	GRCh37/hg19 13q34(chr13:113626234-115107733)x3	ADPRHL1, ATP4B +18 more	Copy number gain	not provided	GLikely pathogenic
Select item 1338738	NC_000013.11:g.109179481_114327244del	LOC130010213, LOC130010214 +261 more	Deletion	Factor VII deficiency +1 more	GPathogenic
Select item 1333006	Single allele	ANKRD10, ANKRD10-IT1 +17 more	Deletion	Factor VII deficiency +1 more	GLikely pathogenic
Select item 1321996	GRCh37/hg19 13p13-q34(chr13:1-115169878)x3	MRPL57, MRPS31 +332 more	Copy number gain	See cases	GPathogenic
Select item 1305191	NM_000504.4(F10):c.992C>T (p.Pro331Leu)	F10 (P287L +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1290740	NM_000504.4(F10):c.231+89G>A	F10, F10-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1289702	NM_000504.4(F10):c.370+65G>A	F10	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1289208	NM_000504.4(F10):c.502+288A>G	F10	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1288567	NM_000504.4(F10):c.502+307T>C	F10	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1285884	NC_000013.11:g.113122509_113122513TG[2]ATTGTGA[1]	F10	Microsatellite	not provided	GBenign
Select item 1276744	NM_000504.4(F10):c.865+33A>G	F10	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1268896	NM_000504.4(F10):c.865+90G>C	F10	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1261160	NC_000013.11:g.113122633T>C	F10	Single nucleotide variant	not provided	GBenign
Select item 1250576	NM_000504.4(F10):c.231+64C>T	F10, F10-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1249655	NM_000504.4(F10):c.70+270A>G	F10	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1232680	NM_000504.4(F10):c.256+98C>A	F10	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1226473	NM_000504.4(F10):c.231+295T>G	F10, F10-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1223559	NC_000013.11:g.113122635C>A	F10	Single nucleotide variant	not provided	GBenign
Select item 1181357	NC_000013.11:g.113149822C>G	F10	Single nucleotide variant	not provided	GBenign
Select item 1178123	NM_000504.4(F10):c.71-42_71-41insAGAGGAGCCTGGGTGA	F10, F10-AS1	Insertion (intron variant)	not provided	GBenign
Select item 1163549	NM_000504.4(F10):c.1247A>T (p.Gln416Leu)	F10 (Q372L +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely pathogenic
Select item 1098486	NM_000504.4(F10):c.1387G>C (p.Asp463His)	F10 (D419H +1 more)	Single nucleotide variant (missense variant +1 more)	Factor X deficiency	GUncertain significance
Select item 1098485	NM_000504.4(F10):c.829T>A (p.Cys277Ser)	F10 (C233S +1 more)	Single nucleotide variant (missense variant)	Factor X deficiency	GUncertain significance

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