ClinVar for MedGen (Select 349003) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3338370	NM_004984.4(KIF5A):c.1688T>C (p.Val563Ala)	KIF5A (V474A +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 10	GUncertain significance
Select item 3338325	NM_004984.4(KIF5A):c.1233dup (p.Glu412fs)	KIF5A (E323fs +1 more)	Duplication (frameshift variant)	Hereditary spastic paraplegia 10	GPathogenic
Select item 3254546	NM_004984.4(KIF5A):c.1491C>G (p.Asn497Lys)	KIF5A (N408K +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 10	GUncertain significance
Select item 3235264	NM_004984.4(KIF5A):c.806T>C (p.Leu269Pro)	KIF5A (L180P +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 10	GLikely pathogenic
Select item 2584828	NM_004984.4(KIF5A):c.2950G>A (p.Gly984Ser)	KIF5A (G984S +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 10	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 2580981	NM_004984.4(KIF5A):c.1396G>T (p.Val466Phe)	KIF5A (V377F +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 10	GLikely benign
Select item 2505561	NM_004984.4(KIF5A):c.566C>G (p.Ser189Ter)	KIF5A (S100* +1 more)	Single nucleotide variant (nonsense)	Hereditary spastic paraplegia 10	GLikely pathogenic
Select item 2500188	NM_004984.4(KIF5A):c.737G>T (p.Gly246Val)	KIF5A (G157V +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 10	GPathogenic
Select item 2149122	NM_004984.4(KIF5A):c.2153G>A (p.Arg718Gln)	KIF5A (R629Q +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 10 +1 more	GUncertain significance
Select item 1805355	NM_004984.4(KIF5A):c.2175G>C (p.Gln725His)	KIF5A (Q636H +1 more)	Single nucleotide variant (missense variant)	Spastic paraplegia +1 more	GUncertain significance
Select item 1711150	NM_004984.4(KIF5A):c.129+1G>A	KIF5A	Single nucleotide variant (splice donor variant)	Hereditary spastic paraplegia 10	GLikely pathogenic
Select item 1709887	NM_004984.4(KIF5A):c.259C>G (p.Gln87Glu)	KIF5A (Q87E)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia 10	GUncertain significance
Select item 1709701	NM_004984.4(KIF5A):c.501+2T>C	KIF5A	Single nucleotide variant (splice donor variant)	Hereditary spastic paraplegia 10	GLikely pathogenic
Select item 1709386	NM_004984.4(KIF5A):c.217G>A (p.Asp73Asn)	KIF5A (D73N)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia 10	GLikely pathogenic
Select item 1709015	NM_004984.4(KIF5A):c.865C>T (p.Gln289Ter)	KIF5A (Q200* +1 more)	Single nucleotide variant (nonsense)	Hereditary spastic paraplegia 10	GUncertain significance
Select item 1707641	NM_004984.4(KIF5A):c.1890G>C (p.Gln630His)	KIF5A (Q541H +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 10	GUncertain significance
Select item 1695912	NM_004984.4(KIF5A):c.788G>A (p.Gly263Asp)	KIF5A (G174D +1 more)	Single nucleotide variant (missense variant)	Spastic paraplegia	GUncertain significance
Select item 1678657	NM_004984.4(KIF5A):c.2120G>A (p.Arg707Gln)	KIF5A (R618Q +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 10 +1 more	GConflicting classifications of pathogenicity
Select item 1384538	NM_004984.4(KIF5A):c.3032C>T (p.Pro1011Leu)	KIF5A (P922L +1 more)	Single nucleotide variant (missense variant)	Spastic paraplegia +3 more	GConflicting classifications of pathogenicity
Select item 1362423	NM_004984.4(KIF5A):c.151C>T (p.Arg51Cys)	KIF5A (R51C)	Single nucleotide variant (missense variant +1 more)	Spastic paraplegia +2 more	GUncertain significance
Select item 1343264	NM_004984.4(KIF5A):c.515G>C (p.Arg172Pro)	KIF5A (R172P +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 10 +2 more	GUncertain significance
Select item 1339153	NM_004984.4(KIF5A):c.2541G>T (p.Leu847=)	KIF5A	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 10	GUncertain significance
Select item 1333930	NM_004984.4(KIF5A):c.1117+4A>G	KIF5A	Single nucleotide variant (intron variant)	Spastic paraplegia +1 more	GUncertain significance
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 1029912	NM_004984.4(KIF5A):c.2590C>T (p.Arg864Ter)	KIF5A (R775* +1 more)	Single nucleotide variant (nonsense)	Myoclonus, intractable, neonatal +1 more	GConflicting classifications of pathogenicity
Select item 1029911	NM_004984.4(KIF5A):c.1710T>G (p.Ile570Met)	KIF5A (I481M +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 10	GUncertain significance
Select item 989073	NM_004984.4(KIF5A):c.889C>T (p.Arg297Trp)	KIF5A (R208W +1 more)	Single nucleotide variant (missense variant)	Spastic paraplegia +1 more	GConflicting classifications of pathogenicity
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 989070	NM_004984.4(KIF5A):c.763A>G (p.Ile255Val)	KIF5A (I166V +1 more)	Single nucleotide variant (missense variant)	Spastic paraplegia +1 more	GConflicting classifications of pathogenicity
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 989065	NM_004984.4(KIF5A):c.416A>G (p.Tyr139Cys)	KIF5A (Y139C +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 10	GConflicting classifications of pathogenicity
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 974686	NM_004984.4(KIF5A):c.2868_2870del (p.Leu957del)	KIF5A (L868del +1 more)	Deletion (inframe_deletion)	Hereditary spastic paraplegia 10	GLikely pathogenic
Select item 973760	NM_004984.4(KIF5A):c.698T>A (p.Leu233Gln)	KIF5A (L144Q +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 10	GLikely pathogenic
Select item 969427	NM_004984.4(KIF5A):c.2147G>A (p.Arg716Gln)	KIF5A (R627Q +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 10 +1 more	GConflicting classifications of pathogenicity
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 884071	NM_004984.4(KIF5A):c.*14C>T	KIF5A	Single nucleotide variant (3 prime UTR variant)	Hereditary spastic paraplegia 10	GUncertain significance
Select item 884070	NM_004984.4(KIF5A):c.2955C>T (p.Gly985=)	KIF5A	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 10 +1 more	GLikely benign
Select item 884069	NM_004984.4(KIF5A):c.2953G>A (p.Gly985Ser)	KIF5A (G985S +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 884000	NM_004984.4(KIF5A):c.890G>A (p.Arg297Gln)	KIF5A (R208Q +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 10 +1 more	GUncertain significance
Select item 883256	NM_004984.4(KIF5A):c.2466G>C (p.Gly822=)	KIF5A	Single nucleotide variant (synonymous variant)	Spastic paraplegia +1 more	GConflicting classifications of pathogenicity
Select item 883205	NM_004984.4(KIF5A):c.818C>G (p.Thr273Ser)	KIF5A (T184S +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 10	GUncertain significance
Select item 883204	NM_004984.4(KIF5A):c.715-9C>A	KIF5A	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 10	GUncertain significance
Select item 883203	NM_004984.4(KIF5A):c.502-15A>T	KIF5A	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 10	GUncertain significance
Select item 882171	NM_004984.4(KIF5A):c.*449C>T	KIF5A	Single nucleotide variant (3 prime UTR variant)	Hereditary spastic paraplegia 10	GUncertain significance
Select item 882170	NM_004984.4(KIF5A):c.*425C>T	KIF5A	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 882169	NM_004984.4(KIF5A):c.*394A>G	KIF5A	Single nucleotide variant (3 prime UTR variant)	Hereditary spastic paraplegia 10	GBenign
Select item 882112	NM_004984.4(KIF5A):c.2433+10G>A	KIF5A	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 10	GUncertain significance
Select item 882111	NM_004984.4(KIF5A):c.2300+7G>A	KIF5A	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 10 +1 more	GConflicting classifications of pathogenicity
Select item 882059	NM_004984.4(KIF5A):c.291+5G>A	KIF5A	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 10 +1 more	GUncertain significance
Select item 882058	NM_004984.4(KIF5A):c.152G>A (p.Arg51His)	KIF5A (R51H)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia 10 +4 more	GConflicting classifications of pathogenicity
Select item 882057	NM_004984.4(KIF5A):c.126T>G (p.Ile42Met)	KIF5A (I42M)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 10 +1 more	GUncertain significance
Select item 882056	NM_004984.4(KIF5A):c.-45C>T	KIF5A	Single nucleotide variant (5 prime UTR variant)	Hereditary spastic paraplegia 10	GUncertain significance
Select item 880777	NM_004984.4(KIF5A):c.*335T>G	KIF5A	Single nucleotide variant (3 prime UTR variant)	Hereditary spastic paraplegia 10	GUncertain significance
Select item 880776	NM_004984.4(KIF5A):c.*86C>G	KIF5A	Single nucleotide variant (3 prime UTR variant)	Hereditary spastic paraplegia 10	GUncertain significance
Select item 880713	NM_004984.4(KIF5A):c.2024-8T>G	KIF5A	Single nucleotide variant (intron variant)	Spastic paraplegia +1 more	GBenign/Likely benign
Select item 880712	NM_004984.4(KIF5A):c.1570-3C>T	KIF5A	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 10	GUncertain significance
Select item 880711	NM_004984.4(KIF5A):c.1476G>A (p.Glu492=)	KIF5A	Single nucleotide variant (synonymous variant)	Spastic paraplegia +1 more	GConflicting classifications of pathogenicity
Select item 701212	NM_004984.4(KIF5A):c.820-9C>A	KIF5A	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 10 +3 more	GBenign/Likely benign
Select item 700403	NM_004984.4(KIF5A):c.1926G>A (p.Ser642=)	KIF5A	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 10 +1 more	GLikely benign
Select item 682854	NM_004984.4(KIF5A):c.445+22A>G	KIF5A	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 10 +2 more	GBenign
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 640046	NM_004984.4(KIF5A):c.1569+6T>C	KIF5A	Single nucleotide variant (intron variant)	Spastic paraplegia +3 more	GUncertain significance
Select item 634594	NM_004984.4(KIF5A):c.2119C>T (p.Arg707Trp)	KIF5A (R707W +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 10 +1 more	GUncertain significance
Select item 560370	NM_004984.4(KIF5A):c.2990A>T (p.Asn997Ile)	KIF5A (N997I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 508971	NM_004984.4(KIF5A):c.2718C>T (p.Tyr906=)	KIF5A	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 10 +3 more	GConflicting classifications of pathogenicity
Select item 430828	NM_004984.4(KIF5A):c.799T>C (p.Ser267Pro)	KIF5A (S267P +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 10	GLikely pathogenic
Select item 424697	NM_004984.4(KIF5A):c.572G>A (p.Arg191His)	KIF5A (R191H +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia +1 more	GConflicting classifications of pathogenicity
Select item 424658	NM_004984.4(KIF5A):c.833C>T (p.Pro278Leu)	KIF5A (P278L +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia +1 more	GPathogenic/Likely pathogenic
Select item 424651	NM_004984.4(KIF5A):c.610C>T (p.Arg204Trp)	KIF5A (R204W +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia +3 more	GPathogenic/Likely pathogenic
Select item 409668	NM_004984.4(KIF5A):c.1264C>T (p.Arg422Cys)	KIF5A (R422C +1 more)	Single nucleotide variant (missense variant)	Spastic paraplegia +2 more	GConflicting classifications of pathogenicity
Select item 409666	NM_004984.4(KIF5A):c.967C>T (p.Arg323Trp)	KIF5A (R323W +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia +3 more	GConflicting classifications of pathogenicity
Select item 385059	NM_004984.4(KIF5A):c.2403C>T (p.Phe801=)	KIF5A	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 309962	NM_004984.4(KIF5A):c.*492A>T	KIF5A	Single nucleotide variant (3 prime UTR variant)	Hereditary spastic paraplegia 10	GUncertain significance
Select item 309961	NM_004984.4(KIF5A):c.*435C>T	KIF5A	Single nucleotide variant (3 prime UTR variant)	Hereditary spastic paraplegia 10	GUncertain significance
Select item 309958	NM_004984.4(KIF5A):c.*326G>T	KIF5A	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 309957	NM_004984.4(KIF5A):c.*326G>C	KIF5A	Single nucleotide variant (3 prime UTR variant)	Hereditary spastic paraplegia 10	GUncertain significance
Select item 309956	NM_004984.4(KIF5A):c.*317C>T	KIF5A	Single nucleotide variant (3 prime UTR variant)	Hereditary spastic paraplegia 10	GUncertain significance
Select item 309955	NM_004984.4(KIF5A):c.*170T>A	KIF5A	Single nucleotide variant (3 prime UTR variant)	Hereditary spastic paraplegia 10	GUncertain significance
Select item 309954	NM_004984.4(KIF5A):c.*163C>T	KIF5A	Single nucleotide variant (3 prime UTR variant)	Hereditary spastic paraplegia 10 +1 more	GBenign
Select item 309953	NM_004984.4(KIF5A):c.36+5C>T	KIF5A	Single nucleotide variant (intron variant)	Spastic paraplegia +4 more	GBenign
Select item 309952	NM_004984.4(KIF5A):c.3068T>G (p.Phe1023Cys)	KIF5A (F1023C +1 more)	Single nucleotide variant (missense variant)	Spastic paraplegia +1 more	GConflicting classifications of pathogenicity
Select item 309951	NM_004984.4(KIF5A):c.2994A>G (p.Gly998=)	KIF5A	Single nucleotide variant (synonymous variant)	Spastic paraplegia +1 more	GConflicting classifications of pathogenicity
Select item 309950	NM_004984.4(KIF5A):c.2927C>T (p.Thr976Ile)	KIF5A (T976I +1 more)	Single nucleotide variant (missense variant)	Spastic paraplegia +4 more	GConflicting classifications of pathogenicity
Select item 309949	NM_004984.4(KIF5A):c.2881G>A (p.Ala961Thr)	KIF5A (A961T +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 10 +3 more	GConflicting classifications of pathogenicity
Select item 309948	NM_004984.4(KIF5A):c.2839A>G (p.Thr947Ala)	KIF5A (T947A +1 more)	Single nucleotide variant (missense variant)	Spastic paraplegia +5 more	GConflicting classifications of pathogenicity
Select item 309947	NM_004984.4(KIF5A):c.2838C>T (p.Tyr946=)	KIF5A	Single nucleotide variant (synonymous variant)	Spastic paraplegia +1 more	GConflicting classifications of pathogenicity
Select item 309946	NM_004984.4(KIF5A):c.2775C>A (p.Gly925=)	KIF5A	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 10 +3 more	GLikely benign
Select item 309945	NM_004984.4(KIF5A):c.2478A>C (p.Gln826His)	KIF5A (Q826H +1 more)	Single nucleotide variant (missense variant)	Spastic paraplegia +1 more	GUncertain significance
Select item 309944	NM_004984.4(KIF5A):c.2418G>A (p.Thr806=)	KIF5A	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign/Likely benign
Select item 309943	NM_004984.4(KIF5A):c.2271C>T (p.His757=)	KIF5A	Single nucleotide variant (synonymous variant)	Spastic paraplegia +3 more	GConflicting classifications of pathogenicity
Select item 309942	NM_004984.4(KIF5A):c.2040G>A (p.Val680=)	KIF5A	Single nucleotide variant (synonymous variant)	Spastic paraplegia +3 more	GBenign/Likely benign
Select item 309941	NM_004984.4(KIF5A):c.1932G>A (p.Thr644=)	KIF5A	Single nucleotide variant (synonymous variant)	Spastic paraplegia +2 more	GConflicting classifications of pathogenicity
Select item 309940	NM_004984.4(KIF5A):c.1866C>T (p.Thr622=)	KIF5A	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 309939	NM_004984.4(KIF5A):c.1389C>T (p.Asn463=)	KIF5A	Single nucleotide variant (synonymous variant)	Spastic paraplegia +2 more	GLikely benign

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