Related gene-specific medical variations for Gene (Select 3796) - ClinVar

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Items: 45

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3246464	NC_000005.9:g.(?_61673468)_(61681396_?)dup	KIF2A	Duplication	not provided	GLikely benign
Select item 3246462	NC_000005.9:g.(?_61668245)_(61673609_?)dup	KIF2A	Duplication	not provided	GUncertain significance
Select item 3246461	NC_000005.9:g.(?_61657049)_(61681396_?)dup	KIF2A	Duplication	not provided	GUncertain significance
Select item 3246460	NC_000005.9:g.(?_61602300)_(61602363_?)dup	KIF2A	Duplication	not provided	GLikely benign
Select item 3068009	NM_001098511.3(KIF2A):c.334G>A (p.Val112Met)	KIF2A (V112M +1 more)	Single nucleotide variant (missense variant)	Complex cortical dysplasia with other brain malformations 3	GUncertain significance
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 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 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 2627779	NM_001098511.3(KIF2A):c.1246A>G (p.Ile416Val)	KIF2A (I389V +2 more)	Single nucleotide variant (missense variant)	Complex cortical dysplasia with other brain malformations 3	GUncertain significance
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 2538204	NM_014473.4(DIMT1):c.824A>T (p.Lys275Ile)	DIMT1, KIF2A (K122I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
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 2433149	NM_001098511.3(KIF2A):c.2000G>A (p.Arg667Lys)	KIF2A (R602K +3 more)	Single nucleotide variant (missense variant)	Complex cortical dysplasia with other brain malformations 3	GUncertain significance
Select item 2433148	NM_001098511.3(KIF2A):c.1760+5A>G	KIF2A	Single nucleotide variant (intron variant)	Complex cortical dysplasia with other brain malformations 3	GUncertain significance
Select item 2380959	NM_014473.4(DIMT1):c.919G>A (p.Ala307Thr)	DIMT1, KIF2A (A307T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2129262	NM_001098511.3(KIF2A):c.64+18C>A	KIF2A, LOC129993961	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2110377	NM_001098511.3(KIF2A):c.64+6C>T	KIF2A, LOC129993961	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2104787	NM_001098511.3(KIF2A):c.64+19C>T	KIF2A, LOC129993961	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 1915670	NM_001098511.3(KIF2A):c.64+10G>A	KIF2A, LOC129993961	Single nucleotide variant (intron variant)	not provided	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 1676416	NM_001098511.3(KIF2A):c.461G>A (p.Arg154His)	KIF2A (R127H +2 more)	Single nucleotide variant	not provided	GUncertain significance
Select item 1666852	NM_001098511.3(KIF2A):c.64+18C>T	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 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 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 1544199	NM_001098511.3(KIF2A):c.64+17G>T	KIF2A, LOC129993961	Single nucleotide variant (intron variant)	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 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 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 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 1190889	NM_001098511.3(KIF2A):c.-262A>C	KIF2A, LOC129993961	Single nucleotide variant (5 prime UTR variant)	not provided	GLikely benign
Select item 977394	NM_001098511.3(KIF2A):c.907G>A (p.Glu303Lys)	KIF2A (E276K +2 more)	Single nucleotide variant (missense variant)	Seizure	GUncertain significance
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 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 683951	NM_001098511.3(KIF2A):c.64+298T>C	KIF2A, LOC129993961	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 672373	NM_001098511.3(KIF2A):c.64+205G>C	KIF2A, LOC129993961	Single nucleotide variant (intron variant)	not provided	GBenign
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 512622	NM_001098511.3(KIF2A):c.-37C>A	KIF2A, LOC129993961	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 445895	NM_001098511.3(KIF2A):c.335-9dup	KIF2A	Duplication (intron variant)	not provided	GLikely benign
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

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Links from Gene

Items: 45