KIF2A[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 149824	GRCh38/hg38 5p15.33-q13.3(chr5:22149-74412725)x3	ACTBL2, ADAMTS12 +1445 more	Copy number gain	See cases	GPathogenic
Select item 57149	GRCh38/hg38 5q11.1-12.1(chr5:50288355-63149770)x1	ACTBL2, ANKRD55 +269 more	Copy number loss	See cases	GPathogenic
Select item 800723	GRCh38/hg38 5q11.2-13.2(chr5:58785203-73519962)x1	LOC129993982, LOC129993983 +265 more	Copy number loss	Intellectual disability	GLikely pathogenic
Select item 144267	GRCh38/hg38 5q12.1-12.3(chr5:60499077-63927783)x1	DEPDC1B, DIMT1 +49 more	Copy number loss	See cases	GPathogenic
Select item 149154	GRCh38/hg38 5q12.1(chr5:61610054-62739543)x3	DIMT1, IPO11 +16 more	Copy number gain	See cases	GUncertain significance
Select item 673524	NM_001098511.2(KIF2A):c.-544A>G	KIF2A, LOC129993961	Single nucleotide variant	not provided	GLikely benign
Select item 1204563	NC_000005.10:g.62306184G>A	KIF2A, LOC129993961	Single nucleotide variant (genic upstream transcript variant)	not provided	GLikely benign
Select item 1211628	NC_000005.10:g.62306198G>A	KIF2A, LOC129993961	Single nucleotide variant (genic upstream transcript variant)	not provided	GLikely benign
Select item 1190889	NM_001098511.3(KIF2A):c.-262A>C	KIF2A, LOC129993961	Single nucleotide variant (5 prime UTR variant)	not provided	GLikely benign
Select item 1222402	NM_001098511.3(KIF2A):c.-250C>T	KIF2A, LOC129993961	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 1210636	NM_001098511.3(KIF2A):c.-81A>G	KIF2A, LOC129993961	Single nucleotide variant (5 prime UTR variant)	not provided	GLikely benign
Select item 512622	NM_001098511.3(KIF2A):c.-37C>A	KIF2A, LOC129993961	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 515876	NM_001098511.3(KIF2A):c.-29G>C	KIF2A, LOC129993961	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 2442132	NM_001098511.3(KIF2A):c.1A>G (p.Met1Val)	KIF2A, LOC129993961 (M1V)	Single nucleotide variant (missense variant +2 more)	Complex cortical dysplasia with other brain malformations 3	GUncertain significance
Select item 1416555	NM_001098511.3(KIF2A):c.7A>G (p.Thr3Ala)	KIF2A, LOC129993961 (T3A)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1353578	NM_001098511.3(KIF2A):c.8C>T (p.Thr3Met)	KIF2A, LOC129993961 (T3M)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2035347	NM_001098511.3(KIF2A):c.12C>A (p.Ala4=)	KIF2A, LOC129993961	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2796280	NM_001098511.3(KIF2A):c.19G>A (p.Gly7Ser)	LOC129993961, KIF2A (G7S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 813612	NM_001098511.3(KIF2A):c.19G>C (p.Gly7Arg)	KIF2A, LOC129993961 (G7R)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2539517	NM_001098511.3(KIF2A):c.22A>G (p.Lys8Glu)	KIF2A, LOC129993961 (K8E)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 3053009	NM_001098511.3(KIF2A):c.27C>T (p.Ile9=)	KIF2A, LOC129993961	Single nucleotide variant (synonymous variant +1 more)	KIF2A-related disorder	GLikely benign
Select item 1718686	NM_001098511.3(KIF2A):c.27C>G (p.Ile9Met)	KIF2A, LOC129993961 (I9M)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1559088	NM_001098511.3(KIF2A):c.27C>A (p.Ile9=)	KIF2A, LOC129993961	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1646493	NM_001098511.3(KIF2A):c.28C>G (p.Gln10Glu)	KIF2A, LOC129993961 (Q10E)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 1585279	NM_001098511.3(KIF2A):c.35G>A (p.Gly12Glu)	KIF2A, LOC129993961 (G12E)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2793430	NM_001098511.3(KIF2A):c.37A>G (p.Ile13Val)	KIF2A, LOC129993961 (I13V)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 1478869	NM_001098511.3(KIF2A):c.43G>A (p.Val15Met)	KIF2A, LOC129993961 (V15M)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 435641	NM_001098511.3(KIF2A):c.48G>A (p.Glu16=)	KIF2A, LOC129993961	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2110377	NM_001098511.3(KIF2A):c.64+6C>T	KIF2A, LOC129993961	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1915670	NM_001098511.3(KIF2A):c.64+10G>A	KIF2A, LOC129993961	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1649643	NM_001098511.3(KIF2A):c.64+23_64+40del	KIF2A, LOC129993961	Deletion (intron variant)	not provided	GLikely benign
Select item 1544199	NM_001098511.3(KIF2A):c.64+17G>T	KIF2A, LOC129993961	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2129262	NM_001098511.3(KIF2A):c.64+18C>A	KIF2A, LOC129993961	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1666852	NM_001098511.3(KIF2A):c.64+18C>T	KIF2A, LOC129993961	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2104787	NM_001098511.3(KIF2A):c.64+19C>T	KIF2A, LOC129993961	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 672373	NM_001098511.3(KIF2A):c.64+205G>C	KIF2A, LOC129993961	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1266329	NM_001098511.3(KIF2A):c.64+289C>T	KIF2A, LOC129993961	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1259864	NM_001098511.3(KIF2A):c.64+296C>T	KIF2A, LOC129993961	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 683951	NM_001098511.3(KIF2A):c.64+298T>C	KIF2A, LOC129993961	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1188323	NM_001098511.3(KIF2A):c.64+1578T>G	KIF2A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1233929	NM_001098511.3(KIF2A):c.64+1841C>A	KIF2A	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 1226230	NM_001098511.3(KIF2A):c.64+2093T>C	KIF2A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1193728	NM_001098511.3(KIF2A):c.64+2193A>C	KIF2A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 682852	NM_001098511.3(KIF2A):c.65-126A>G	KIF2A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1669726	NM_001098511.3(KIF2A):c.65-21_65-20inv	KIF2A	Inversion (intron variant)	not provided	GLikely benign
Select item 380829	NM_001098511.3(KIF2A):c.65-20T>C	KIF2A	Single nucleotide variant (intron variant)	Complex cortical dysplasia with other brain malformations 3 +2 more	GBenign
Select item 2025205	NM_001098511.3(KIF2A):c.65-19A>G	KIF2A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1571658	NM_001098511.3(KIF2A):c.65-17A>C	KIF2A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1530804	NM_001098511.3(KIF2A):c.65-15T>G	KIF2A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2874744	NM_001098511.3(KIF2A):c.65-7C>T	KIF2A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1955998	NM_001098511.3(KIF2A):c.65-4A>G	KIF2A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 930378	NM_001098511.3(KIF2A):c.82A>G (p.Met28Val)	KIF2A (M1V +1 more)	Single nucleotide variant (missense variant +1 more)	Complex cortical dysplasia with other brain malformations 3	GUncertain significance
Select item 1376780	NM_001098511.3(KIF2A):c.85G>A (p.Val29Ile)	KIF2A (V29I +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1429203	NM_001098511.3(KIF2A):c.103G>A (p.Asp35Asn)	KIF2A (D35N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2103255	NM_001098511.3(KIF2A):c.110A>G (p.Glu37Gly)	KIF2A (E37G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1472030	NM_001098511.3(KIF2A):c.159G>A (p.Glu53=)	KIF2A	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 1446355	NM_001098511.3(KIF2A):c.159+6A>G	KIF2A	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1216848	NM_001098511.3(KIF2A):c.160-233G>A	KIF2A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 672374	NM_001098511.3(KIF2A):c.160-214G>A	KIF2A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1271265	NM_001098511.3(KIF2A):c.160-106G>A	KIF2A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 682855	NM_001098511.3(KIF2A):c.160-59G>A	KIF2A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1962261	NM_001098511.3(KIF2A):c.160-17G>T	KIF2A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1558898	NM_001098511.3(KIF2A):c.160-15A>T	KIF2A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1962262	NM_001098511.3(KIF2A):c.160-13G>T	KIF2A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2702676	NM_001098511.3(KIF2A):c.160-11G>C	KIF2A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2806144	NM_001098511.3(KIF2A):c.160-7T>C	KIF2A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2160836	NM_001098511.3(KIF2A):c.190C>T (p.Pro64Ser)	KIF2A (P64S +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 382901	NM_001098511.3(KIF2A):c.195C>A (p.Asp65Glu)	KIF2A (D65E +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign
Select item 2844957	NM_001098511.3(KIF2A):c.196C>T (p.Leu66Phe)	KIF2A (L39F +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3372557	NM_001098511.3(KIF2A):c.202C>T (p.Pro68Ser)	KIF2A (P41S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2965389	NM_001098511.3(KIF2A):c.206A>G (p.Asp69Gly)	KIF2A (D42G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1623302	NM_001098511.3(KIF2A):c.216T>A (p.Ile72=)	KIF2A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1031823	NM_001098511.3(KIF2A):c.217G>A (p.Glu73Lys)	KIF2A (E73K +1 more)	Single nucleotide variant (missense variant)	Complex cortical dysplasia with other brain malformations 3	GLikely pathogenic
Select item 2664183	NM_001098511.3(KIF2A):c.224G>A (p.Ser75Asn)	KIF2A (S48N +1 more)	Single nucleotide variant (missense variant)	Complex cortical dysplasia with other brain malformations 3	GUncertain significance
Select item 384104	NM_001098511.3(KIF2A):c.226C>A (p.Pro76Thr)	KIF2A (P76T +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GLikely benign
Select item 1514684	NM_001098511.3(KIF2A):c.238C>T (p.Pro80Ser)	KIF2A (P53S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2782203	NM_001098511.3(KIF2A):c.247G>T (p.Ala83Ser)	KIF2A (A56S +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1715569	NM_001098511.3(KIF2A):c.247G>A (p.Ala83Thr)	KIF2A (A56T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1331608	NM_001098511.3(KIF2A):c.259A>C (p.Lys87Gln)	KIF2A (K60Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1462031	NM_001098511.3(KIF2A):c.263T>C (p.Val88Ala)	KIF2A (V61A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3009852	NM_001098511.3(KIF2A):c.273T>A (p.Ile91=)	KIF2A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1946564	NM_001098511.3(KIF2A):c.279+7del	KIF2A	Deletion (intron variant)	not provided	GLikely benign
Select item 1946565	NM_001098511.3(KIF2A):c.279+8A>T	KIF2A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1946566	NM_001098511.3(KIF2A):c.279+10G>T	KIF2A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1946567	NM_001098511.3(KIF2A):c.279+12A>C	KIF2A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1911479	NM_001098511.3(KIF2A):c.279+15T>C	KIF2A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1626241	NM_001098511.3(KIF2A):c.279+19G>C	KIF2A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1294437	NM_001098511.3(KIF2A):c.280-257T>C	KIF2A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1289919	NM_001098511.3(KIF2A):c.280-23A>G	KIF2A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1915489	NM_001098511.3(KIF2A):c.280-17A>G	KIF2A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1601801	NM_001098511.3(KIF2A):c.280-11dup	KIF2A	Duplication (intron variant)	not provided	GBenign
Select item 2991196	NM_001098511.3(KIF2A):c.280-11del	KIF2A	Deletion (intron variant)	not provided	GBenign
Select item 2991197	NM_001098511.3(KIF2A):c.280-15T>C	KIF2A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2993470	NM_001098511.3(KIF2A):c.280-9C>T	KIF2A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2964419	NM_001098511.3(KIF2A):c.280-4A>G	KIF2A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 800959	NM_001098511.3(KIF2A):c.283C>T (p.Arg95Ter)	KIF2A (R95* +1 more)	Single nucleotide variant (nonsense)	Complex cortical dysplasia with other brain malformations 3	GPathogenic
Select item 3006492	NM_001098511.3(KIF2A):c.286C>T (p.Arg96Trp)	KIF2A (R69W +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3010654	NM_001098511.3(KIF2A):c.287G>A (p.Arg96Gln)	KIF2A (R96Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2333843	NM_001098511.3(KIF2A):c.293T>A (p.Val98Glu)	KIF2A (V98E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2097661	NM_001098511.3(KIF2A):c.295G>A (p.Ala99Thr)	KIF2A (A72T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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