KIF5A[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	LOC130008916, LOC130008917 +4836 more	Copy number gain	See cases	GPathogenic
Select item 59019	GRCh38/hg38 12q13.3-14.2(chr12:57013355-63042498)x1	AGAP2, AGAP2-AS1 +199 more	Copy number loss	See cases	GPathogenic
Select item 59020	GRCh38/hg38 12q13.3-14.1(chr12:57041158-60273934)x1	AGAP2, AGAP2-AS1 +162 more	Copy number loss	See cases	GPathogenic
Select item 1280914	NC_000012.12:g.57549736C>T	KIF5A	Single nucleotide variant	not provided	GBenign
Select item 1201242	NC_000012.12:g.57549925A>G	KIF5A, LOC130008141	Single nucleotide variant	not provided	GLikely benign
Select item 1190587	NC_000012.12:g.57549977C>T	KIF5A, LOC130008141	Single nucleotide variant	not provided	GLikely benign
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
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 507908	NM_004984.4(KIF5A):c.-13G>A	KIF5A	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 2125987	NM_004984.4(KIF5A):c.-1_15del (p.Met1fs)	KIF5A (M1fs)	Deletion (frameshift variant +1 more)	Spastic paraplegia	GUncertain significance
Select item 2123684	NM_004984.4(KIF5A):c.3G>A (p.Met1Ile)	KIF5A (M1I)	Single nucleotide variant (missense variant +1 more)	Spastic paraplegia	GUncertain significance
Select item 1438854	NM_004984.4(KIF5A):c.4_5delinsAA (p.Ala2Lys)	KIF5A (A2K)	Indel (missense variant)	Spastic paraplegia	GUncertain significance
Select item 1521590	NM_004984.4(KIF5A):c.5C>T (p.Ala2Val)	KIF5A (A2V)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 2062175	NM_004984.4(KIF5A):c.6G>C (p.Ala2=)	KIF5A	Single nucleotide variant (synonymous variant)	Spastic paraplegia	GLikely benign
Select item 2029604	NM_004984.4(KIF5A):c.13A>G (p.Asn5Asp)	KIF5A (N5D)	Single nucleotide variant (missense variant)	Spastic paraplegia	GUncertain significance
Select item 1719975	NM_004984.4(KIF5A):c.22T>C (p.Cys8Arg)	KIF5A (C8R)	Single nucleotide variant (missense variant)	Spastic paraplegia	GUncertain significance
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 1420543	NM_004984.4(KIF5A):c.28A>G (p.Ile10Val)	KIF5A (I10V)	Single nucleotide variant (missense variant)	Spastic paraplegia	GUncertain significance
Select item 2849280	NM_004984.4(KIF5A):c.30C>A (p.Ile10=)	KIF5A	Single nucleotide variant (synonymous variant)	Spastic paraplegia	GLikely benign
Select item 1499854	NM_004984.4(KIF5A):c.32A>C (p.Lys11Thr)	KIF5A (K11T)	Single nucleotide variant (missense variant)	Spastic paraplegia	GUncertain significance
Select item 2069115	NM_004984.4(KIF5A):c.37C>G (p.Leu13Val)	KIF5A (L13V)	Single nucleotide variant (missense variant)	Spastic paraplegia	GUncertain significance
Select item 2851170	NM_004984.4(KIF5A):c.41G>A (p.Cys14Tyr)	KIF5A (C14Y)	Single nucleotide variant (missense variant)	Spastic paraplegia	GUncertain significance
Select item 2092543	NM_004984.4(KIF5A):c.42C>T (p.Cys14=)	KIF5A	Single nucleotide variant (synonymous variant)	Spastic paraplegia	GLikely benign
Select item 1508288	NM_004984.4(KIF5A):c.43C>T (p.Arg15Ter)	KIF5A (R15*)	Single nucleotide variant (nonsense)	Spastic paraplegia	GPathogenic
Select item 1311469	NM_004984.4(KIF5A):c.49C>T (p.Arg17Trp)	KIF5A (R17W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2794208	NM_004984.4(KIF5A):c.51G>T (p.Arg17=)	KIF5A	Single nucleotide variant (synonymous variant)	Spastic paraplegia	GLikely benign
Select item 1328093	NM_004984.4(KIF5A):c.52C>T (p.Pro18Ser)	KIF5A (P18S)	Single nucleotide variant (missense variant)	Spastic paraplegia	GUncertain significance
Select item 701258	NM_004984.4(KIF5A):c.60C>T (p.Asn20=)	KIF5A	Single nucleotide variant (synonymous variant)	Spastic paraplegia +1 more	GBenign/Likely benign
Select item 1312441	NM_004984.4(KIF5A):c.65C>T (p.Ala22Val)	KIF5A (A22V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2860459	NM_004984.4(KIF5A):c.73C>G (p.Leu25Val)	KIF5A (L25V)	Single nucleotide variant (missense variant)	Spastic paraplegia	GUncertain significance
Select item 1804538	NM_004984.4(KIF5A):c.76C>T (p.Arg26Trp)	KIF5A (R26W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1716181	NM_004984.4(KIF5A):c.79G>A (p.Gly27Arg)	KIF5A (G27R)	Single nucleotide variant (missense variant)	Spastic paraplegia	GUncertain significance
Select item 1489146	NM_004984.4(KIF5A):c.86A>T (p.Lys29Met)	KIF5A (K29M)	Single nucleotide variant (missense variant)	Spastic paraplegia	GUncertain significance
Select item 2741673	NM_004984.4(KIF5A):c.92T>C (p.Ile31Thr)	KIF5A (I31T)	Single nucleotide variant (missense variant)	Spastic paraplegia	GUncertain significance
Select item 1669813	NM_004984.4(KIF5A):c.93C>T (p.Ile31=)	KIF5A	Single nucleotide variant (synonymous variant)	Spastic paraplegia	GLikely benign
Select item 2791945	NM_004984.4(KIF5A):c.97A>G (p.Ile33Val)	KIF5A (I33V)	Single nucleotide variant (missense variant)	Spastic paraplegia	GUncertain significance
Select item 1365403	NM_004984.4(KIF5A):c.103C>A (p.Gln35Lys)	KIF5A (Q35K)	Single nucleotide variant (missense variant)	Spastic paraplegia	GUncertain significance
Select item 1512560	NM_004984.4(KIF5A):c.118G>A (p.Val40Ile)	KIF5A (V40I)	Single nucleotide variant (missense variant)	Spastic paraplegia	GLikely benign
Select item 2042017	NM_004984.4(KIF5A):c.120C>A (p.Val40=)	KIF5A	Single nucleotide variant (synonymous variant)	Spastic paraplegia	GLikely benign
Select item 835884	NM_004984.4(KIF5A):c.121G>A (p.Val41Ile)	KIF5A (V41I)	Single nucleotide variant (missense variant)	Spastic paraplegia	GUncertain significance
Select item 3022091	NM_004984.4(KIF5A):c.124A>G (p.Ile42Val)	KIF5A (I42V)	Single nucleotide variant (missense variant)	Spastic paraplegia	GLikely benign
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 3005296	NM_004984.4(KIF5A):c.128G>C (p.Gly43Ala)	KIF5A (G43A)	Single nucleotide variant (missense variant)	Spastic paraplegia	GUncertain significance
Select item 2020149	NM_004984.4(KIF5A):c.129G>A (p.Gly43=)	KIF5A	Single nucleotide variant (synonymous variant)	Spastic paraplegia	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 2746816	NM_004984.4(KIF5A):c.129+6T>A	KIF5A	Single nucleotide variant (intron variant)	Spastic paraplegia	GUncertain significance
Select item 219607	NM_004984.4(KIF5A):c.129+9C>T	KIF5A	Single nucleotide variant (intron variant)	Spastic paraplegia +3 more	GLikely benign
Select item 1671689	NM_004984.4(KIF5A):c.129+10G>T	KIF5A	Single nucleotide variant (intron variant)	Spastic paraplegia	GLikely benign
Select item 1583440	NM_004984.4(KIF5A):c.129+10G>A	KIF5A	Single nucleotide variant (intron variant)	Spastic paraplegia	GLikely benign
Select item 2130430	NM_004984.4(KIF5A):c.129+11C>G	KIF5A	Single nucleotide variant (intron variant)	Spastic paraplegia	GLikely benign
Select item 2761572	NM_004984.4(KIF5A):c.129+18G>A	KIF5A	Single nucleotide variant (intron variant)	Spastic paraplegia	GLikely benign
Select item 1619064	NM_004984.4(KIF5A):c.129+20G>A	KIF5A	Single nucleotide variant (intron variant)	Spastic paraplegia	GLikely benign
Select item 671430	NM_004984.4(KIF5A):c.129+310C>T	KIF5A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1801420	NM_004984.4(KIF5A):c.130-5236_130-4967del	KIF5A	Deletion (intron variant)	Schizophrenia	GUncertain significance
Select item 2808433	NM_004984.4(KIF5A):c.130-16T>C	KIF5A	Single nucleotide variant (intron variant)	Spastic paraplegia	GLikely benign
Select item 1612831	NM_004984.4(KIF5A):c.130-14T>C	KIF5A	Single nucleotide variant (intron variant)	Spastic paraplegia	GLikely benign
Select item 2181708	NM_004984.4(KIF5A):c.136C>G (p.Pro46Ala)	KIF5A (P46A)	Single nucleotide variant (missense variant +1 more)	Spastic paraplegia	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 2582904	NM_004984.4(KIF5A):c.147T>C (p.Phe49=)	KIF5A	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1481173	NM_004984.4(KIF5A):c.151C>G (p.Arg51Gly)	KIF5A (R51G)	Single nucleotide variant (missense variant +1 more)	Spastic paraplegia	GUncertain significance
Select item 1362423	NM_004984.4(KIF5A):c.151C>T (p.Arg51Cys)	KIF5A (R51C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 882058	NM_004984.4(KIF5A):c.152G>A (p.Arg51His)	KIF5A (R51H)	Single nucleotide variant (missense variant +1 more)	KIF5A-related disorder +4 more	GConflicting classifications of pathogenicity
Select item 2755457	NM_004984.4(KIF5A):c.157T>C (p.Phe53Leu)	KIF5A (F53L)	Single nucleotide variant (missense variant +1 more)	Spastic paraplegia	GUncertain significance
Select item 527978	NM_004984.4(KIF5A):c.158T>C (p.Phe53Ser)	KIF5A (F53S)	Single nucleotide variant (missense variant +1 more)	Spastic paraplegia	GUncertain significance
Select item 1572446	NM_004984.4(KIF5A):c.159C>T (p.Phe53=)	KIF5A	Single nucleotide variant (synonymous variant +1 more)	Spastic paraplegia	GLikely benign
Select item 2867803	NM_004984.4(KIF5A):c.162C>T (p.Pro54=)	KIF5A	Single nucleotide variant (intron variant +1 more)	Spastic paraplegia	GLikely benign
Select item 2916347	NM_004984.4(KIF5A):c.163C>G (p.Pro55Ala)	KIF5A (P55A)	Single nucleotide variant (missense variant +1 more)	Spastic paraplegia	GUncertain significance
Select item 3006333	NM_004984.4(KIF5A):c.164C>G (p.Pro55Arg)	KIF5A (P55R)	Single nucleotide variant (missense variant +1 more)	Spastic paraplegia	GUncertain significance
Select item 1406639	NM_004984.4(KIF5A):c.166A>C (p.Asn56His)	KIF5A (N56H)	Single nucleotide variant (missense variant +1 more)	Spastic paraplegia	GUncertain significance
Select item 1463899	NM_004984.4(KIF5A):c.170C>T (p.Thr57Met)	KIF5A (T57M)	Single nucleotide variant (missense variant +1 more)	Spastic paraplegia	GUncertain significance
Select item 2196443	NM_004984.4(KIF5A):c.171G>A (p.Thr57=)	KIF5A	Single nucleotide variant (synonymous variant +1 more)	Spastic paraplegia	GLikely benign
Select item 872702	NM_004984.4(KIF5A):c.178G>C (p.Glu60Gln)	KIF5A (E60Q)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1626148	NM_004984.4(KIF5A):c.180G>A (p.Glu60=)	KIF5A	Single nucleotide variant (synonymous variant +1 more)	Spastic paraplegia	GLikely benign
Select item 1443428	NM_004984.4(KIF5A):c.184G>C (p.Val62Leu)	KIF5A (V62L)	Single nucleotide variant (missense variant +1 more)	Spastic paraplegia	GUncertain significance
Select item 2714315	NM_004984.4(KIF5A):c.199G>C (p.Ala67Pro)	KIF5A (A67P)	Single nucleotide variant (missense variant +1 more)	Spastic paraplegia	GUncertain significance
Select item 2058058	NM_004984.4(KIF5A):c.203T>C (p.Met68Thr)	KIF5A (M68T)	Single nucleotide variant (missense variant +1 more)	Spastic paraplegia	GUncertain significance
Select item 1713952	NM_004984.4(KIF5A):c.203T>G (p.Met68Arg)	KIF5A (M68R)	Single nucleotide variant (missense variant +1 more)	Spastic paraplegia	GUncertain significance
Select item 2711280	NM_004984.4(KIF5A):c.215A>G (p.Lys72Arg)	KIF5A (K72R)	Single nucleotide variant (missense variant +1 more)	Spastic paraplegia	GUncertain significance
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 1427444	NM_004984.4(KIF5A):c.217+5T>C	KIF5A	Single nucleotide variant (intron variant)	Spastic paraplegia +1 more	GUncertain significance
Select item 3019998	NM_004984.4(KIF5A):c.217+6A>C	KIF5A	Single nucleotide variant (intron variant)	Spastic paraplegia	GUncertain significance
Select item 1643279	NM_004984.4(KIF5A):c.217+7G>T	KIF5A	Single nucleotide variant (intron variant)	Spastic paraplegia	GLikely benign
Select item 2031414	NM_004984.4(KIF5A):c.217+11dup	KIF5A	Duplication (intron variant)	Spastic paraplegia	GLikely benign
Select item 1627148	NM_004984.4(KIF5A):c.217+8A>G	KIF5A	Single nucleotide variant (intron variant)	Spastic paraplegia	GLikely benign
Select item 2899292	NM_004984.4(KIF5A):c.218-20T>G	KIF5A	Single nucleotide variant (intron variant)	Spastic paraplegia	GLikely benign
Select item 1622119	NM_004984.4(KIF5A):c.218-19T>C	KIF5A	Single nucleotide variant (intron variant)	Spastic paraplegia	GLikely benign
Select item 1625576	NM_004984.4(KIF5A):c.218-17T>C	KIF5A	Single nucleotide variant (intron variant)	Spastic paraplegia	GLikely benign
Select item 1547975	NM_004984.4(KIF5A):c.218-16C>T	KIF5A	Single nucleotide variant (intron variant)	Spastic paraplegia	GLikely benign
Select item 2119601	NM_004984.4(KIF5A):c.218-14A>G	KIF5A	Single nucleotide variant (intron variant)	Spastic paraplegia	GLikely benign
Select item 1607954	NM_004984.4(KIF5A):c.218-13C>T	KIF5A	Single nucleotide variant (intron variant)	Spastic paraplegia	GLikely benign
Select item 1977012	NM_004984.4(KIF5A):c.218-12T>C	KIF5A	Single nucleotide variant (intron variant)	Spastic paraplegia	GLikely benign
Select item 2174522	NM_004984.4(KIF5A):c.218-11G>C	KIF5A	Single nucleotide variant (intron variant)	Spastic paraplegia	GLikely benign
Select item 1982416	NM_004984.4(KIF5A):c.218-11G>A	KIF5A	Single nucleotide variant (intron variant)	Spastic paraplegia	GLikely benign
Select item 1639875	NM_004984.4(KIF5A):c.218-9C>T	KIF5A	Single nucleotide variant (intron variant)	Spastic paraplegia	GLikely benign
Select item 757876	NM_004984.4(KIF5A):c.218-7C>G	KIF5A	Single nucleotide variant (intron variant)	Spastic paraplegia	GLikely benign
Select item 1606599	NM_004984.4(KIF5A):c.218-4C>A	KIF5A	Single nucleotide variant (intron variant)	Spastic paraplegia	GLikely benign
Select item 2108865	NM_004984.4(KIF5A):c.222C>G (p.Val74=)	KIF5A	Single nucleotide variant (synonymous variant +1 more)	Spastic paraplegia	GLikely benign
Select item 409671	NM_004984.4(KIF5A):c.230G>A (p.Gly77Asp)	KIF5A (G77D)	Single nucleotide variant (missense variant +1 more)	Spastic paraplegia	GUncertain significance
Select item 1694668	NM_004984.4(KIF5A):c.233A>G (p.Tyr78Cys)	KIF5A (Y78C)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1201241	NM_004984.4(KIF5A):c.236A>G (p.Asn79Ser)	KIF5A (N79S)	Single nucleotide variant (missense variant +1 more)	Spastic paraplegia +1 more	GUncertain significance

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