KIF13A[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58124	GRCh38/hg38 6p25.3-22.3(chr6:106431-18360595)x3	ADTRP, ATXN1 +824 more	Copy number gain	See cases	GPathogenic
Select item 155430	GRCh38/hg38 6p25.3-12.3(chr6:156974-46789291)x3	HCG26, HCG27 +2581 more	Copy number gain	See cases	GPathogenic
Select item 150044	GRCh38/hg38 6p25.2-21.33(chr6:3224310-30657190)x3	ABCF1, ABT1 +1340 more	Copy number gain	See cases	GPathogenic
Select item 152197	GRCh38/hg38 6p23-22.3(chr6:14958760-18580908)x3	ATXN1, ATXN1-AS1 +162 more	Copy number gain	See cases	GUncertain significance
Select item 57174	GRCh38/hg38 6p22.3(chr6:17397932-17966557)x3	CAP2, FAM8A1 +17 more	Copy number gain	See cases	GUncertain significance
Select item 3114419	NM_022113.6(KIF13A):c.5375T>C (p.Val1792Ala)	KIF13A (V1744A +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2400975	NM_022113.6(KIF13A):c.5359T>G (p.Leu1787Val)	KIF13A (L1752V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2241273	NM_022113.6(KIF13A):c.5339C>T (p.Pro1780Leu)	KIF13A (P1732L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2538427	NM_022113.6(KIF13A):c.5321C>T (p.Ser1774Phe)	KIF13A (S1739F +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2457553	NM_022113.6(KIF13A):c.5271G>C (p.Glu1757Asp)	KIF13A (E1757D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2210426	NM_022113.6(KIF13A):c.5251A>G (p.Thr1751Ala)	KIF13A (T1751A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3114418	NM_022113.6(KIF13A):c.5182A>G (p.Asn1728Asp)	KIF13A (N1693D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3114417	NM_022113.6(KIF13A):c.5180C>T (p.Thr1727Ile)	KIF13A (T1692I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2278030	NM_022113.6(KIF13A):c.5165C>A (p.Thr1722Lys)	KIF13A (T1687K +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2370834	NM_022113.6(KIF13A):c.4973G>C (p.Gly1658Ala)	KIF13A (G1610A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2656260	NM_022113.6(KIF13A):c.4966G>A (p.Glu1656Lys)	KIF13A (E1608K +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3114416	NM_022113.6(KIF13A):c.4949A>C (p.Lys1650Thr)	KIF13A (K1615T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2656261	NM_022113.6(KIF13A):c.4881G>A (p.Thr1627=)	KIF13A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 713152	NM_022113.6(KIF13A):c.4863C>G (p.Asp1621Glu)	KIF13A (D1573E +2 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3114415	NM_022113.6(KIF13A):c.4793G>A (p.Gly1598Asp)	KIF13A (G1598D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2387959	NM_022113.6(KIF13A):c.4763G>A (p.Arg1588His)	KIF13A (R1588H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2555558	NM_022113.6(KIF13A):c.4657G>C (p.Glu1553Gln)	KIF13A (E1518Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2557795	NM_022113.6(KIF13A):c.4622G>A (p.Arg1541Lys)	KIF13A (R1493K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2476420	NM_022113.6(KIF13A):c.4588G>A (p.Glu1530Lys)	KIF13A (E1495K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2318889	NM_022113.6(KIF13A):c.4538G>A (p.Ser1513Asn)	KIF13A (S1513N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3114414	NM_022113.6(KIF13A):c.4537A>G (p.Ser1513Gly)	KIF13A (S1513G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2394462	NM_022113.6(KIF13A):c.4493A>G (p.Gln1498Arg)	KIF13A (Q1498R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3114413	NM_022113.6(KIF13A):c.4396T>G (p.Phe1466Val)	KIF13A (F1453V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2241007	NM_022113.6(KIF13A):c.4130G>A (p.Arg1377Gln)	KIF13A (R1377Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3114412	NM_022113.6(KIF13A):c.4129C>T (p.Arg1377Trp)	KIF13A (R1364W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2305197	NM_022113.6(KIF13A):c.3929A>G (p.Asn1310Ser)	KIF13A (N1297S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2258204	NM_022113.6(KIF13A):c.3911C>T (p.Thr1304Ile)	KIF13A (T1291I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2539515	NM_022113.6(KIF13A):c.3727G>A (p.Val1243Ile)	KIF13A (V1230I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2546761	NM_022113.6(KIF13A):c.3649A>G (p.Ile1217Val)	KIF13A (I1217V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3114409	NM_022113.6(KIF13A):c.3563A>G (p.Asn1188Ser)	KIF13A (N1175S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2553842	NM_022113.6(KIF13A):c.3535G>A (p.Asp1179Asn)	KIF13A (D1166N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3114408	NM_022113.6(KIF13A):c.3517A>G (p.Ile1173Val)	KIF13A (I1160V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2286025	NM_022113.6(KIF13A):c.3384G>T (p.Glu1128Asp)	KIF13A (E1128D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2399780	NM_022113.6(KIF13A):c.3382G>A (p.Glu1128Lys)	KIF13A (E1115K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2570672	NM_022113.6(KIF13A):c.3364A>G (p.Lys1122Glu)	KIF13A (K1122E +1 more)	Single nucleotide variant (missense variant)	Seizure +4 more	GUncertain significance
Select item 3114407	NM_022113.6(KIF13A):c.3359C>T (p.Thr1120Ile)	KIF13A (T1120I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 792034	NM_022113.6(KIF13A):c.3280G>C (p.Val1094Leu)	KIF13A (V1081L +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2527348	NM_022113.6(KIF13A):c.3158C>T (p.Ser1053Leu)	KIF13A (S1053L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2222773	NM_022113.6(KIF13A):c.3101C>T (p.Thr1034Met)	KIF13A (T1034M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3114406	NM_022113.6(KIF13A):c.3041A>G (p.Asp1014Gly)	KIF13A (D1014G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 784063	NM_022113.6(KIF13A):c.3015T>C (p.Ala1005=)	KIF13A	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2556280	NM_022113.6(KIF13A):c.2973G>A (p.Met991Ile)	KIF13A (M991I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2224146	NM_022113.6(KIF13A):c.2957C>T (p.Thr986Met)	KIF13A (T986M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3114405	NM_022113.6(KIF13A):c.2929A>T (p.Thr977Ser)	KIF13A (T977S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2612346	NM_022113.6(KIF13A):c.2840G>A (p.Gly947Glu)	KIF13A (G947E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2345777	NM_022113.6(KIF13A):c.2737C>T (p.Pro913Ser)	KIF13A (P913S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2392197	NM_022113.6(KIF13A):c.2705C>T (p.Thr902Met)	KIF13A (T902M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3114404	NM_022113.6(KIF13A):c.2695T>A (p.Cys899Ser)	KIF13A (C899S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3114403	NM_022113.6(KIF13A):c.2584A>G (p.Ile862Val)	KIF13A (I862V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2396147	NM_022113.6(KIF13A):c.2578G>A (p.Gly860Arg)	KIF13A (G860R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2393559	NM_022113.6(KIF13A):c.2569G>A (p.Asp857Asn)	KIF13A (D857N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2474197	NM_022113.6(KIF13A):c.2543G>T (p.Ser848Ile)	KIF13A (S848I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2327362	NM_022113.6(KIF13A):c.2528C>T (p.Ser843Phe)	KIF13A (S843F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 100825	NM_022113.6(KIF13A):c.2511T>C (p.Arg837=)	KIF13A	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2213330	NM_022113.6(KIF13A):c.2510G>A (p.Arg837His)	KIF13A (R837H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2595394	NM_022113.6(KIF13A):c.2438T>C (p.Ile813Thr)	KIF13A (I813T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 712451	NM_022113.6(KIF13A):c.2316C>T (p.Leu772=)	KIF13A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2211175	NM_022113.6(KIF13A):c.2272C>T (p.Leu758Phe)	KIF13A (L758F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2245179	NM_022113.6(KIF13A):c.2214G>T (p.Lys738Asn)	KIF13A (K738N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2284415	NM_022113.6(KIF13A):c.2165G>C (p.Arg722Thr)	KIF13A (R722T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3114401	NM_022113.6(KIF13A):c.2064G>T (p.Leu688Phe)	KIF13A (L688F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3114400	NM_022113.6(KIF13A):c.2036G>A (p.Arg679Gln)	KIF13A (R679Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2624343	NM_022113.6(KIF13A):c.2029A>G (p.Lys677Glu)	KIF13A (K677E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2484422	NM_022113.6(KIF13A):c.1996G>A (p.Glu666Lys)	KIF13A (E666K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2602642	NM_022113.6(KIF13A):c.1967C>T (p.Ala656Val)	KIF13A (A656V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3114399	NM_022113.6(KIF13A):c.1927A>C (p.Ser643Arg)	KIF13A (S643R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3114398	NM_022113.6(KIF13A):c.1809G>C (p.Gln603His)	KIF13A (Q603H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3114397	NM_022113.6(KIF13A):c.1739A>G (p.Tyr580Cys)	KIF13A (Y580C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2352343	NM_022113.6(KIF13A):c.1718C>T (p.Ser573Phe)	KIF13A (S573F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 792035	NM_022113.6(KIF13A):c.1677G>A (p.Thr559=)	KIF13A	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3114396	NM_022113.6(KIF13A):c.1573C>A (p.Leu525Met)	KIF13A (L525M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3114395	NM_022113.6(KIF13A):c.1414G>A (p.Val472Met)	KIF13A (V472M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2487961	NM_022113.6(KIF13A):c.1388T>C (p.Val463Ala)	KIF13A (V463A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2530573	NM_022113.6(KIF13A):c.1381C>A (p.Leu461Ile)	KIF13A (L461I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2268193	NM_022113.6(KIF13A):c.1332T>A (p.Asp444Glu)	KIF13A (D444E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3114393	NM_022113.6(KIF13A):c.1103G>A (p.Arg368Gln)	KIF13A (R368Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 771391	NM_022113.6(KIF13A):c.949T>C (p.Leu317=)	KIF13A	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2656262	NM_022113.6(KIF13A):c.717+8A>G	KIF13A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 789743	NM_022113.6(KIF13A):c.695C>T (p.Thr232Ile)	KIF13A (T232I)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 770725	NM_022113.6(KIF13A):c.624G>A (p.Thr208=)	KIF13A	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3114420	NM_022113.6(KIF13A):c.547G>C (p.Asp183His)	KIF13A (D183H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2272858	NM_022113.6(KIF13A):c.547G>T (p.Asp183Tyr)	KIF13A (D183Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3114411	NM_022113.6(KIF13A):c.397A>T (p.Ile133Phe)	KIF13A (I133F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2363022	NM_022113.6(KIF13A):c.206C>G (p.Thr69Ser)	KIF13A (T69S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3114394	NM_022113.6(KIF13A):c.134A>G (p.Lys45Arg)	KIF13A (K45R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3114421	NM_022113.6(KIF13A):c.76T>G (p.Cys26Gly)	KIF13A (C26G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2281880	NM_022113.6(KIF13A):c.46A>C (p.Asn16His)	KIF13A (N16H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2281879	NM_022113.6(KIF13A):c.43A>C (p.Met15Leu)	KIF13A (M15L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1810398	GRCh37/hg19 6p25.3-22.3(chr6:820000-21700000)x3	ADTRP, ATXN1 +89 more	Copy number gain	See cases	GPathogenic
Select item 1809386	GRCh37/hg19 6p24.1-22.3(chr6:12005630-22849647)x1	ATXN1, CAP2 +32 more	Copy number loss	not provided	GPathogenic
Select item 689105	GRCh37/hg19 6p24.1-22.3(chr6:13248587-18083552)x3	ATXN1, CAP2 +18 more	Copy number gain	not provided	GUncertain significance
Select item 688193	GRCh37/hg19 6p23-22.3(chr6:13910125-22000204)x1	ATXN1, CAP2 +21 more	Copy number loss	not provided	GPathogenic
Select item 687409	GRCh37/hg19 6p25.3-22.3(chr6:156974-23221621)x3	ADTRP, ATXN1 +95 more	Copy number gain	not provided	GPathogenic
Select item 563140	GRCh37/hg19 6p25.3-22.3(chr6:156974-21955964)x3	ADTRP, ATXN1 +93 more	Copy number gain	not provided	GPathogenic
Select item 560067	Single allele	ADTRP, ATXN1 +95 more	Duplication	not provided	GPathogenic

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