Related gene-specific medical variations for Gene (Select 3798) - ClinVar

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Items: 30

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2689314	NM_004984.4(KIF5A):c.1817G>A (p.Arg606Gln)	KIF5A (R517Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2684391	NM_004984.4(KIF5A):c.1480C>T (p.Leu494=)	KIF5A	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2672172	NM_004984.4(KIF5A):c.646_648del (p.Glu216del)	KIF5A (E127del +1 more)	Deletion (inframe_deletion)	Inherited neurodegenerative disorder	GUncertain significance
Select item 2582712	NM_004984.4(KIF5A):c.1045_1047del (p.Glu349del)	KIF5A (E260del +1 more)	Deletion (inframe_deletion)	Hereditary spastic paraplegia 10	GUncertain significance
Select item 1801420	NM_004984.4(KIF5A):c.130-5236_130-4967del	KIF5A	Deletion (intron variant)	Schizophrenia	GUncertain significance
Select item 1330601	NM_004984.4(KIF5A):c.138A>G (p.Pro46=)	KIF5A	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1324622	NM_004984.4(KIF5A):c.2310C>G (p.Tyr770Ter)	KIF5A (Y681* +1 more)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 1184883	NM_004984.4(KIF5A):c.397-2A>G	KIF5A	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 1184563	NM_004984.4(KIF5A):c.687T>A (p.Tyr229Ter)	KIF5A (Y140* +1 more)	Single nucleotide variant (nonsense)	Hereditary spastic paraplegia 10	GLikely pathogenic
Select item 989082	NM_004984.4(KIF5A):c.1590del (p.Glu530fs)	KIF5A (E441fs +1 more)	Deletion (frameshift variant)	Spastic paraplegia	GUncertain significance
Select item 989081	NM_004984.4(KIF5A):c.340_357dup (p.Arg114_His119dup)	KIF5A	Duplication (inframe_insertion +1 more)	Spastic paraplegia	GUncertain significance
Select item 989072	NM_004984.4(KIF5A):c.854C>T (p.Thr285Ile)	KIF5A (T196I +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 10	GPathogenic
Select item 989071	NM_004984.4(KIF5A):c.765C>G (p.Ile255Met)	KIF5A (I166M +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 10	GPathogenic
Select item 989069	NM_004984.4(KIF5A):c.728G>A (p.Gly243Glu)	KIF5A (G154E +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 10	GPathogenic
Select item 989068	NM_004984.4(KIF5A):c.605G>A (p.Ser202Asn)	KIF5A (S113N +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 10	GPathogenic
Select item 989067	NM_004984.4(KIF5A):c.604A>G (p.Ser202Gly)	KIF5A (S113G +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 10	GPathogenic
Select item 989066	NM_004984.4(KIF5A):c.547G>T (p.Val183Leu)	KIF5A (V183L +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 10	GUncertain significance
Select item 989064	NM_004984.4(KIF5A):c.395A>G (p.Lys132Arg)	KIF5A (K132R)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia 10	GPathogenic
Select item 987386	NM_004984.4(KIF5A):c.1636C>T (p.Arg546Ter)	KIF5A (R457* +1 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 987274	NM_004984.4(KIF5A):c.2755+1G>T	KIF5A	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 987261	NM_004984.4(KIF5A):c.2811del (p.Thr938fs)	KIF5A (T849fs +1 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 987097	NM_004984.4(KIF5A):c.2613_2614del (p.Arg871fs)	KIF5A (R782fs +1 more)	Microsatellite (frameshift variant)	not provided	GLikely pathogenic
Select item 986795	NM_004984.4(KIF5A):c.1378C>T (p.Arg460Ter)	KIF5A (R371* +1 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 931334	NM_004984.4(KIF5A):c.1056G>T (p.Lys352Asn)	KIF5A (K263N +1 more)	Single nucleotide variant (missense variant)	Myoclonus, intractable, neonatal	GUncertain significance
Select item 872704	NM_004984.4(KIF5A):c.2124G>T (p.Glu708Asp)	KIF5A (E619D +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 806902	NM_004984.4(KIF5A):c.785T>C (p.Leu262Pro)	KIF5A (L262P +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 377241	NM_004984.4(KIF5A):c.2971C>A (p.Gln991Lys)	KIF5A (Q991K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 374677	NM_004984.4(KIF5A):c.605G>C (p.Ser202Thr)	KIF5A (S202T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 372188	KIF5A, 1-BP DEL, 2934G	KIF5A	Deletion	Myoclonus, intractable, neonatal	GPathogenic
Select item 309929	NM_004984.4(KIF5A):c.-193G>A	KIF5A, LOC130008141	Single nucleotide variant (5 prime UTR variant)	Spastic paraplegia, autosomal dominant	GUncertain significance

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Links from Gene

Items: 30