"KIF5A-related disorder"[Disease/phenotype] AND "PreventionGenetics, p - ClinVar

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Items: 39

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2631174	NM_004984.4(KIF5A):c.23G>T (p.Cys8Phe)	KIF5A (C8F)	Single nucleotide variant (missense variant)	KIF5A-related disorder	GUncertain significance
Select item 219607	NM_004984.4(KIF5A):c.129+9C>T	KIF5A	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 10 +3 more	GLikely benign
Select item 882058	NM_004984.4(KIF5A):c.152G>A (p.Arg51His)	KIF5A (R51H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +4 more	GConflicting classifications of pathogenicity
Select item 696748	NM_004984.4(KIF5A):c.261G>A (p.Gln87=)	KIF5A	Single nucleotide variant (synonymous variant +1 more)	Spastic paraplegia +1 more	GLikely benign
Select item 1592602	NM_004984.4(KIF5A):c.292-5G>T	KIF5A	Single nucleotide variant (intron variant)	Spastic paraplegia +1 more	GLikely benign
Select item 309931	NM_004984.4(KIF5A):c.292-5G>A	KIF5A	Single nucleotide variant (intron variant)	KIF5A-related disorder +3 more	GBenign
Select item 309934	NM_004984.4(KIF5A):c.471C>T (p.His157=)	KIF5A	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia +5 more	GBenign/Likely benign
Select item 944917	NM_004984.4(KIF5A):c.484C>T (p.Arg162Trp)	KIF5A (R162W +1 more)	Single nucleotide variant (missense variant)	KIF5A-related disorder +3 more	GPathogenic/Likely pathogenic
Select item 3033623	NM_004984.4(KIF5A):c.575A>C (p.His192Pro)	KIF5A (H103P +1 more)	Single nucleotide variant (missense variant)	KIF5A-related disorder	GUncertain significance
Select item 37129	NM_004984.4(KIF5A):c.611G>A (p.Arg204Gln)	KIF5A (R204Q +1 more)	Single nucleotide variant (missense variant)	Myoclonus, intractable, neonatal +4 more	GPathogenic/Likely pathogenic
Select item 1921101	NM_004984.4(KIF5A):c.742G>A (p.Val248Met)	KIF5A (V159M +1 more)	Single nucleotide variant (missense variant)	Spastic paraplegia +1 more	GUncertain significance
Select item 1543275	NM_004984.4(KIF5A):c.894G>A (p.Thr298=)	KIF5A	Single nucleotide variant (synonymous variant)	Spastic paraplegia +1 more	GLikely benign
Select item 1521010	NM_004984.4(KIF5A):c.1076C>T (p.Thr359Met)	KIF5A (T270M +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 240085	NM_004984.4(KIF5A):c.1105C>T (p.Arg369Trp)	KIF5A (R369W +1 more)	Single nucleotide variant (missense variant)	KIF5A-related disorder +5 more	GConflicting classifications of pathogenicity
Select item 287325	NM_004984.4(KIF5A):c.1150G>C (p.Gly384Arg)	KIF5A (G384R +1 more)	Single nucleotide variant (missense variant)	not specified +6 more	GConflicting classifications of pathogenicity
Select item 2079119	NM_004984.4(KIF5A):c.1216G>A (p.Val406Met)	KIF5A (V406M +1 more)	Single nucleotide variant (missense variant)	KIF5A-related disorder +1 more	GUncertain significance
Select item 1117402	NM_004984.4(KIF5A):c.1251C>T (p.Tyr417=)	KIF5A	Single nucleotide variant (synonymous variant)	KIF5A-related disorder +1 more	GLikely benign
Select item 409668	NM_004984.4(KIF5A):c.1264C>T (p.Arg422Cys)	KIF5A (R422C +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 1633480	NM_004984.4(KIF5A):c.1371G>A (p.Val457=)	KIF5A	Single nucleotide variant (synonymous variant)	KIF5A-related disorder +1 more	GLikely benign
Select item 309939	NM_004984.4(KIF5A):c.1389C>T (p.Asn463=)	KIF5A	Single nucleotide variant (synonymous variant)	KIF5A-related disorder +3 more	GLikely benign
Select item 386159	NM_004984.4(KIF5A):c.1419G>A (p.Leu473=)	KIF5A	Single nucleotide variant (synonymous variant)	KIF5A-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 2636933	NM_004984.4(KIF5A):c.1452G>A (p.Val484=)	KIF5A	Single nucleotide variant (synonymous variant)	KIF5A-related disorder	GUncertain significance
Select item 1500314	NM_004984.4(KIF5A):c.1811G>A (p.Arg604Gln)	KIF5A (R515Q +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 3049811	NM_004984.4(KIF5A):c.1906-4C>T	KIF5A	Single nucleotide variant (intron variant)	KIF5A-related disorder	GLikely benign
Select item 309941	NM_004984.4(KIF5A):c.1932G>A (p.Thr644=)	KIF5A	Single nucleotide variant (synonymous variant)	KIF5A-related disorder +3 more	GConflicting classifications of pathogenicity
Select item 1637568	NM_004984.4(KIF5A):c.2079T>C (p.Asp693=)	KIF5A	Single nucleotide variant (synonymous variant)	KIF5A-related disorder +1 more	GLikely benign
Select item 700995	NM_004984.4(KIF5A):c.2157C>T (p.Asp719=)	KIF5A	Single nucleotide variant (synonymous variant)	KIF5A-related disorder +1 more	GLikely benign
Select item 219549	NM_004984.4(KIF5A):c.2199-4G>A	KIF5A	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 10 +6 more	GBenign/Likely benign
Select item 309943	NM_004984.4(KIF5A):c.2271C>T (p.His757=)	KIF5A	Single nucleotide variant (synonymous variant)	KIF5A-related disorder +4 more	GConflicting classifications of pathogenicity
Select item 79154	NM_004984.4(KIF5A):c.2272G>A (p.Glu758Lys)	KIF5A (E758K +1 more)	Single nucleotide variant (missense variant)	not specified +5 more	GConflicting classifications of pathogenicity
Select item 309944	NM_004984.4(KIF5A):c.2418G>A (p.Thr806=)	KIF5A	Single nucleotide variant (synonymous variant)	KIF5A-related disorder +4 more	GBenign/Likely benign
Select item 3057866	NM_004984.4(KIF5A):c.2434-8G>C	KIF5A	Single nucleotide variant (intron variant)	KIF5A-related disorder	GLikely benign
Select item 3061145	NM_004984.4(KIF5A):c.2463G>C (p.Gly821=)	KIF5A	Single nucleotide variant (synonymous variant)	KIF5A-related disorder	GLikely benign
Select item 1079263	NM_004984.4(KIF5A):c.2472C>T (p.His824=)	KIF5A	Single nucleotide variant (synonymous variant)	Spastic paraplegia +1 more	GLikely benign
Select item 3044448	NM_004984.4(KIF5A):c.2667C>T (p.Asp889=)	KIF5A	Single nucleotide variant (synonymous variant)	KIF5A-related disorder	GLikely benign
Select item 648118	NM_004984.4(KIF5A):c.2672G>A (p.Arg891His)	KIF5A (R802H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 2540813	NM_004984.4(KIF5A):c.2696G>A (p.Arg899His)	KIF5A (R810H +1 more)	Single nucleotide variant (missense variant)	Spastic paraplegia +2 more	GUncertain significance
Select item 2069125	NM_004984.4(KIF5A):c.2709C>T (p.Ala903=)	KIF5A	Single nucleotide variant (synonymous variant)	Spastic paraplegia +1 more	GLikely benign
Select item 2632474	NM_004984.4(KIF5A):c.3074T>C (p.Leu1025Pro)	KIF5A (L1025P +1 more)	Single nucleotide variant (missense variant)	Spastic paraplegia +1 more	GUncertain significance

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Items: 39