Related gene-specific medical variations for Gene (Select 3800) - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 20

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3114956	NM_004522.3(KIF5C):c.179A>G (p.Glu60Gly)	KIF5C, LOC101928553 (E60G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 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 2429868	NM_004522.3(KIF5C):c.856C>T (p.Arg286Trp)	KIF5C (R286W)	Single nucleotide variant (missense variant +1 more)	Developmental disorder	GUncertain significance
Select item 2241543	NM_004522.3(KIF5C):c.155T>C (p.Val52Ala)	KIF5C, LOC101928553 (V52A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 1260232	NM_004522.3(KIF5C):c.217+162A>T	KIF5C, LOC101928553	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1246884	NM_004522.3(KIF5C):c.138A>G (p.Pro46=)	KIF5C, LOC101928553	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1223634	NM_004522.3(KIF5C):c.127-74G>A	KIF5C, LOC101928553	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1218422	NM_004522.3(KIF5C):c.127-214del	KIF5C, LOC101928553	Deletion (intron variant)	not provided	GLikely benign
Select item 1208967	NM_004522.3(KIF5C):c.-304C>A	KIF5C, LOC129934896	Single nucleotide variant (5 prime UTR variant)	not provided	GLikely benign
Select item 1177130	t(2;15)(q23.1;q25.3)	KIF5C, NTRK3	Translocation	Glioblastoma	GUncertain significance
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 808818	NM_004522.3(KIF5C):c.2640G>A (p.Glu880=)	KIF5C	Single nucleotide variant (synonymous variant +1 more)	not provided	GUncertain significance
Select item 808817	NM_004522.3(KIF5C):c.2073G>A (p.Thr691=)	KIF5C	Single nucleotide variant (synonymous variant +1 more)	not provided	GUncertain significance
Select item 403692	Single allele	ORC4, KIF5C +3 more	Duplication	MBD5 associated neurodevelopmental disorder	GPathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from Gene

Items: 20