ClinVar for MedGen (Select 815343) - ClinVar

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Items: 22

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3148961	NM_004522.3(KIF5C):c.1771A>G (p.Ile591Val)	KIF5C (I591V)	Single nucleotide variant (missense variant +1 more)	Complex cortical dysplasia with other brain malformations 2	GUncertain significance
Select item 2689315	NM_004522.3(KIF5C):c.2230C>G (p.Leu744Val)	KIF5C (L744V)	Single nucleotide variant (missense variant +1 more)	Complex cortical dysplasia with other brain malformations 2	GUncertain significance
Select item 2498166	NM_004522.3(KIF5C):c.710A>G (p.Glu237Gly)	KIF5C (E237G)	Single nucleotide variant (missense variant)	Complex cortical dysplasia with other brain malformations 2	GLikely pathogenic
Select item 2441978	NM_004522.3(KIF5C):c.571C>T (p.Arg191Ter)	KIF5C (R191*)	Single nucleotide variant (nonsense)	Complex cortical dysplasia with other brain malformations 2	GUncertain significance
Select item 2441708	NM_004522.3(KIF5C):c.610A>G (p.Arg204Gly)	KIF5C (R204G)	Single nucleotide variant (missense variant)	Complex cortical dysplasia with other brain malformations 2	GUncertain significance
Select item 2433158	NM_004522.3(KIF5C):c.1187C>A (p.Thr396Asn)	KIF5C (T396N)	Single nucleotide variant (missense variant +1 more)	Complex cortical dysplasia with other brain malformations 2	GUncertain significance
Select item 2433157	NM_004522.3(KIF5C):c.2618C>T (p.Ala873Val)	KIF5C (A873V)	Single nucleotide variant (missense variant +1 more)	Complex cortical dysplasia with other brain malformations 2	GUncertain significance
Select item 2433156	NM_004522.3(KIF5C):c.2672T>C (p.Met891Thr)	KIF5C (M891T)	Single nucleotide variant (missense variant +1 more)	Complex cortical dysplasia with other brain malformations 2	GUncertain significance
Select item 1878628	NM_004522.3(KIF5C):c.265T>C (p.Ser89Pro)	KIF5C (S89P)	Single nucleotide variant (missense variant)	Complex cortical dysplasia with other brain malformations 2	GPathogenic
Select item 1805970	NM_004522.3(KIF5C):c.2640G>C (p.Glu880Asp)	KIF5C (E880D)	Single nucleotide variant (missense variant +1 more)	Complex cortical dysplasia with other brain malformations 2	GUncertain significance
Select item 1708124	NM_004522.3(KIF5C):c.1358A>G (p.Asp453Gly)	KIF5C (D453G)	Single nucleotide variant (missense variant +1 more)	Complex cortical dysplasia with other brain malformations 2	GUncertain significance
Select item 1699156	NM_004522.3(KIF5C):c.1700C>T (p.Thr567Ile)	KIF5C (T567I)	Single nucleotide variant (missense variant +1 more)	Complex cortical dysplasia with other brain malformations 2	GUncertain significance
Select item 1341828	NM_004522.3(KIF5C):c.952C>A (p.Leu318Met)	KIF5C (L318M)	Single nucleotide variant (missense variant +1 more)	Complex cortical dysplasia with other brain malformations 2	GUncertain significance
Select item 1341342	NM_004522.3(KIF5C):c.1964G>A (p.Arg655Lys)	KIF5C (R655K)	Single nucleotide variant (missense variant +1 more)	Complex cortical dysplasia with other brain malformations 2	GLikely benign
Select item 1339229	NM_004522.3(KIF5C):c.1454A>C (p.Lys485Thr)	KIF5C (K485T)	Single nucleotide variant (missense variant +1 more)	Complex cortical dysplasia with other brain malformations 2	GUncertain significance
Select item 977878	NM_004522.3(KIF5C):c.2660A>G (p.Lys887Arg)	KIF5C (K887R)	Single nucleotide variant (missense variant +1 more)	Complex cortical dysplasia with other brain malformations 2	GLikely benign
Select item 930842	NM_004522.3(KIF5C):c.1716+9G>A	KIF5C	Single nucleotide variant (intron variant)	Complex cortical dysplasia with other brain malformations 2	GUncertain significance
Select item 638380	NM_004522.3(KIF5C):c.1190C>G (p.Pro397Arg)	KIF5C (P397R)	Single nucleotide variant (missense variant +1 more)	Complex cortical dysplasia with other brain malformations 2	GUncertain significance
Select item 638268	NM_004522.3(KIF5C):c.1018G>A (p.Glu340Lys)	KIF5C (E340K)	Single nucleotide variant (missense variant +1 more)	Complex cortical dysplasia with other brain malformations 2	GLikely benign
Select item 638267	NM_004522.3(KIF5C):c.1864A>G (p.Ser622Gly)	KIF5C (S622G)	Single nucleotide variant (missense variant +1 more)	Complex cortical dysplasia with other brain malformations 2	GUncertain significance
Select item 140740	NM_004522.3(KIF5C):c.709G>A (p.Glu237Lys)	KIF5C (E237K)	Single nucleotide variant (missense variant)	Complex cortical dysplasia with other brain malformations 2 +1 more	GPathogenic/Likely pathogenic
Select item 65402	NM_004522.3(KIF5C):c.710A>T (p.Glu237Val)	KIF5C (E237V)	Single nucleotide variant (missense variant)	Complex cortical dysplasia with other brain malformations 2	GPathogenic

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Items: 22