113220[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 160862	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC124210612, LOC124210613 +3786 more	Copy number gain	See cases	GPathogenic
Select item 150340	GRCh38/hg38 9p11.2-q34.3(chr9:193412-138159073)x3	LOC121331326, LOC121331327 +3785 more	Copy number gain	See cases	GPathogenic
Select item 150050	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138159073)x3	LOC126860737, LOC126860738 +3786 more	Copy number gain	See cases	GPathogenic
Select item 149828	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124524)x3	ABCA1, ABCA2 +3786 more	Copy number gain	See cases	GPathogenic
Select item 59875	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138114463)x3	LOC110121197, LOC110121234 +3786 more	Copy number gain	See cases	GPathogenic
Select item 33205	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC121331342, LOC121331343 +3786 more	Copy number gain	See cases	GPathogenic
Select item 153518	GRCh38/hg38 9p24.3-q34.3(chr9:203861-138125937)x3	LOC113839542, LOC113839543 +3786 more	Copy number gain	See cases	GPathogenic
Select item 155409	GRCh38/hg38 9p24.3-q34.3(chr9:203862-138125937)x3	ABCA1, ABCA2 +3786 more	Copy number gain	See cases	GPathogenic
Select item 144309	GRCh38/hg38 9p24.3-q34.3(chr9:204193-138179445)	LOC130002189, LOC130002190 +3786 more	Copy number gain	See cases	GPathogenic
Select item 161058	GRCh38/hg38 9q22.33-33.1(chr9:99138048-115011033)x1	LOC126860732, LOC126860733 +514 more	Copy number loss	See cases	GPathogenic
Select item 32222	GRCh38/hg38 9q22.33-33.1(chr9:99138048-115011033)x1	ABCA1, ABITRAM +514 more	Copy number loss	See cases	GPathogenic
Select item 59123	GRCh38/hg38 9q22.33-33.1(chr9:99349916-115767475)x1	CT70, CTNNAL1 +509 more	Copy number loss	See cases	GPathogenic
Select item 152171	GRCh38/hg38 9q31.2-33.1(chr9:107530314-117965944)x1	PALM2AKAP2, PAPPA +377 more	Copy number loss	See cases	GPathogenic
Select item 2054583	NM_001388308.1(KIF12):c.1948C>G (p.Pro650Ala)	KIF12 (P512A +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2051148	NM_001388308.1(KIF12):c.1921G>A (p.Ala641Thr)	KIF12 (A503T +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2695099	NM_001388308.1(KIF12):c.1914T>G (p.Ser638Arg)	KIF12 (S500R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2037464	NM_001388308.1(KIF12):c.1914T>C (p.Ser638=)	KIF12	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2065343	NM_001388308.1(KIF12):c.1900del (p.Gln634fs)	KIF12 (Q634fs +1 more)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 2215192	NM_001388308.1(KIF12):c.1895G>A (p.Arg632His)	KIF12 (R494H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2373326	NM_001388308.1(KIF12):c.1886G>A (p.Arg629Gln)	KIF12 (R629Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2099828	NM_001388308.1(KIF12):c.1842C>T (p.Ala614=)	KIF12	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2081565	NM_001388308.1(KIF12):c.1825G>A (p.Gly609Arg)	KIF12 (G609R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2603200	NM_001388308.1(KIF12):c.1819G>A (p.Gly607Arg)	KIF12 (G469R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2399665	NM_001388308.1(KIF12):c.1802C>T (p.Ser601Leu)	KIF12 (S463L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3114382	NM_001388308.1(KIF12):c.1771C>G (p.Pro591Ala)	KIF12 (P453A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2599907	NM_001388308.1(KIF12):c.1740G>A (p.Met580Ile)	KIF12 (M580I +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 3346499	NM_001388308.1(KIF12):c.1738A>T (p.Met580Leu)	KIF12 (M442L +1 more)	Single nucleotide variant (missense variant)	KIF12-related disorder	GUncertain significance
Select item 2344859	NM_001388308.1(KIF12):c.1724G>A (p.Arg575Gln)	KIF12 (R437Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3064812	NM_001388308.1(KIF12):c.1723C>T (p.Arg575Ter)	KIF12 (R437* +1 more)	Single nucleotide variant (nonsense)	Cholestasis, progressive familial intrahepatic, 8	GLikely pathogenic
Select item 2061783	NM_001388308.1(KIF12):c.1715C>G (p.Thr572Ser)	KIF12 (T434S +1 more)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 2340491	NM_001388308.1(KIF12):c.1711T>A (p.Trp571Arg)	KIF12 (W433R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2835798	NM_001388308.1(KIF12):c.1698-1G>C	KIF12	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 161803	NM_001388308.1(KIF12):c.1698-4C>A	KIF12	Single nucleotide variant (intron variant)	Malignant tumor of prostate	GUncertain significance
Select item 2068438	NM_001388308.1(KIF12):c.1683G>A (p.Lys561=)	KIF12	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2041361	NM_001388308.1(KIF12):c.1665C>T (p.Cys555=)	KIF12	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2486787	NM_001388308.1(KIF12):c.1660C>T (p.Pro554Ser)	KIF12 (P416S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3023911	NM_001388308.1(KIF12):c.1596+14T>C	KIF12	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2442400	NM_001388308.1(KIF12):c.1596G>A (p.Gln532=)	KIF12	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2373455	NM_001388308.1(KIF12):c.1561T>G (p.Trp521Gly)	KIF12 (W383G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2965869	NM_001388308.1(KIF12):c.1551_1558del (p.Ala519fs)	KIF12 (A381fs +1 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2722805	NM_001388308.1(KIF12):c.1551C>T (p.Pro517=)	KIF12	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2899064	NM_001388308.1(KIF12):c.1550C>T (p.Pro517Leu)	KIF12 (P379L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2469692	NM_001388308.1(KIF12):c.1544G>A (p.Arg515Gln)	KIF12 (R515Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 1987234	NM_001388308.1(KIF12):c.1491+12G>A	KIF12	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2965309	NM_001388308.1(KIF12):c.1491+11C>T	KIF12	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2907514	NM_001388308.1(KIF12):c.1455G>A (p.Pro485=)	KIF12	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2509977	NM_001388308.1(KIF12):c.1454C>T (p.Pro485Leu)	KIF12 (P347L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2602145	NM_001388308.1(KIF12):c.1408C>T (p.Leu470Phe)	KIF12 (L332F +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2636108	NM_001388308.1(KIF12):c.1403G>A (p.Arg468His)	KIF12 (R330H +1 more)	Single nucleotide variant (missense variant)	KIF12-related disorder +2 more	GUncertain significance
Select item 778438	NM_001388308.1(KIF12):c.1402C>T (p.Arg468Cys)	KIF12 (R330C +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2991169	NM_001388308.1(KIF12):c.1401-15T>C	KIF12	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 776441	NM_001388308.1(KIF12):c.1392A>G (p.Ala464=)	KIF12	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2374083	NM_001388308.1(KIF12):c.1343G>A (p.Arg448Gln)	KIF12 (R448Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3051208	NM_001388308.1(KIF12):c.1314-4C>G	KIF12	Single nucleotide variant (intron variant)	KIF12-related disorder	GLikely benign
Select item 1904362	NM_001388308.1(KIF12):c.1313+18G>A	KIF12	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2548780	NM_001388308.1(KIF12):c.1303G>A (p.Glu435Lys)	KIF12 (E435K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2016475	NM_001388308.1(KIF12):c.1293G>T (p.Met431Ile)	KIF12 (M293I +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2303372	NM_001388308.1(KIF12):c.1262G>A (p.Arg421Gln)	KIF12 (R421Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2897359	NM_001388308.1(KIF12):c.1249G>A (p.Ala417Thr)	KIF12 (A279T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2719270	NM_001388308.1(KIF12):c.1243C>G (p.Arg415Gly)	KIF12 (R277G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2881157	NM_001388308.1(KIF12):c.1223-6C>T	KIF12	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2072913	NM_001388308.1(KIF12):c.1223-8C>T	KIF12	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1987557	NM_001388308.1(KIF12):c.1223-13T>C	KIF12	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 778439	NM_001388308.1(KIF12):c.1211T>C (p.Met404Thr)	KIF12 (M266T +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3114391	NM_001388308.1(KIF12):c.1200G>C (p.Gln400His)	KIF12 (Q400H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2400063	NM_001388308.1(KIF12):c.1183C>T (p.Arg395Cys)	KIF12 (R395C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3114390	NM_001388308.1(KIF12):c.1145G>A (p.Arg382His)	KIF12 (R244H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2823058	NM_001388308.1(KIF12):c.1125T>C (p.Pro375=)	KIF12	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2538602	NM_001388308.1(KIF12):c.1123C>T (p.Pro375Ser)	KIF12 (P237S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1987983	NM_001388308.1(KIF12):c.1119+11G>A	KIF12	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2895788	NM_001388308.1(KIF12):c.1118A>G (p.Lys373Arg)	KIF12 (K235R +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2907755	NM_001388308.1(KIF12):c.1101C>T (p.Thr367=)	KIF12	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2240053	NM_001388308.1(KIF12):c.1090C>T (p.Arg364Trp)	KIF12 (R226W +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1328489	NM_001388308.1(KIF12):c.1070G>A (p.Arg357Gln)	KIF12 (R357Q)	Single nucleotide variant (missense variant)	Cholestasis, progressive familial intrahepatic, 8	GUncertain significance
Select item 1328486	NM_001388308.1(KIF12):c.1069C>T (p.Arg357Ter)	KIF12 (R357*)	Single nucleotide variant (nonsense)	Cholestasis, progressive familial intrahepatic, 8	GPathogenic
Select item 3288251	NM_001388308.1(KIF12):c.1064C>T (p.Thr355Ile)	KIF12 (T355I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3114389	NM_001388308.1(KIF12):c.1024G>C (p.Val342Leu)	KIF12 (V204L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1328487	NM_001388308.1(KIF12):c.1024G>A (p.Val342Met)	KIF12 (V342M)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely pathogenic
Select item 2959670	NM_001388308.1(KIF12):c.1015-15G>A	KIF12	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1987469	NM_001388308.1(KIF12):c.1014+11G>A	KIF12	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2044950	NM_001388308.1(KIF12):c.1014+4C>G	KIF12	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1911653	NM_001388308.1(KIF12):c.1011C>T (p.Leu337=)	KIF12	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3288254	NM_001388308.1(KIF12):c.1004T>A (p.Val335Asp)	KIF12 (V197D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1723733	NM_001388308.1(KIF12):c.998G>A (p.Arg333His)	KIF12 (R195H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3114388	NM_001388308.1(KIF12):c.983A>T (p.Asp328Val)	KIF12 (D190V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2406603	NM_001388308.1(KIF12):c.953G>A (p.Arg318Gln)	KIF12 (R180Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2531985	NM_001388308.1(KIF12):c.952C>G (p.Arg318Gly)	KIF12 (R318G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2385144	NM_001388308.1(KIF12):c.943A>G (p.Ile315Val)	KIF12 (I315V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2561033	NM_001388308.1(KIF12):c.935A>G (p.Gln312Arg)	KIF12 (Q312R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2969072	NM_001388308.1(KIF12):c.929G>A (p.Arg310Gln)	KIF12 (R310Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2972991	NM_001388308.1(KIF12):c.912G>A (p.Leu304=)	KIF12	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1987470	NM_001388308.1(KIF12):c.896-14C>A	KIF12	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3234657	NM_001388308.1(KIF12):c.878G>A (p.Arg293Gln)	KIF12 (R155Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1328488	NM_001388308.1(KIF12):c.877C>T (p.Arg293Ter)	KIF12 (R293*)	Single nucleotide variant (nonsense)	Cholestasis, progressive familial intrahepatic, 8	GPathogenic
Select item 3114387	NM_001388308.1(KIF12):c.854T>A (p.Met285Lys)	KIF12 (M147K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3288253	NM_001388308.1(KIF12):c.847G>C (p.Glu283Gln)	KIF12 (E145Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2759191	NM_001388308.1(KIF12):c.829G>A (p.Ala277Thr)	KIF12 (A277T +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2712700	NM_001388308.1(KIF12):c.731G>A (p.Arg244His)	KIF12 (R106H +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3288252	NM_001388308.1(KIF12):c.730C>T (p.Arg244Cys)	KIF12 (R106C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2286935	NM_001388308.1(KIF12):c.728G>C (p.Ser243Thr)	KIF12 (S105T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

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