ClinVar for MedGen (Select 481798) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3247235	NC_000002.11:g.(?_241656771)_(241666367_?)dup	KIF1A	Duplication	Hereditary spastic paraplegia 30 +2 more	GBenign
Select item 3247234	NC_000002.11:g.(?_241656781)_(241686758_?)dup	KIF1A	Duplication	Hereditary spastic paraplegia 30 +2 more	GUncertain significance
Select item 3247233	NC_000002.11:g.(?_241676460)_(241818238_?)dup	AGXT, KIF1A	Duplication	Hereditary spastic paraplegia 30 +2 more	GUncertain significance
Select item 3247232	NC_000002.11:g.(?_241696754)_(241737169_?)dup	KIF1A	Duplication	Hereditary spastic paraplegia 30 +2 more	GUncertain significance
Select item 3024339	NM_001244008.2(KIF1A):c.631A>G (p.Asn211Asp)	KIF1A (N211D)	Single nucleotide variant (missense variant)	Neuropathy, hereditary sensory and autonomic, type 2A +3 more	GPathogenic
Select item 2954535	NM_001244008.2(KIF1A):c.107-4A>G	KIF1A	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 30 +2 more	GLikely benign
Select item 2954387	NM_001244008.2(KIF1A):c.3716A>T (p.Tyr1239Phe)	KIF1A (Y1138F +8 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 30 +2 more	GUncertain significance
Select item 2954352	NM_001244008.2(KIF1A):c.799-16T>C	KIF1A	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 30 +2 more	GLikely benign
Select item 2954250	NM_001244008.2(KIF1A):c.519G>A (p.Leu173=)	KIF1A	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 30 +2 more	GLikely benign
Select item 2954227	NM_001244008.2(KIF1A):c.800A>G (p.Glu267Gly)	KIF1A (E267G)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 30 +2 more	GUncertain significance
Select item 2954066	NM_001244008.2(KIF1A):c.5111A>G (p.Tyr1704Cys)	KIF1A (Y1641C +14 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 30 +2 more	GUncertain significance
Select item 2953908	NM_001244008.2(KIF1A):c.3838G>A (p.Val1280Met)	KIF1A, LOC126806583 (V1178M +8 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 30 +2 more	GUncertain significance
Select item 2953875	NM_001244008.2(KIF1A):c.958+10T>C	KIF1A	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 30 +2 more	GLikely benign
Select item 2953817	NM_001244008.2(KIF1A):c.2917A>G (p.Ile973Val)	KIF1A (I964V +7 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 30 +2 more	GUncertain significance
Select item 2953797	NM_001244008.2(KIF1A):c.4666-17G>T	KIF1A	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 30 +2 more	GLikely benign
Select item 2953676	NM_001244008.2(KIF1A):c.4584C>A (p.Ser1528Arg)	KIF1A (S1426R +14 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 30 +2 more	GUncertain significance
Select item 2953535	NM_001244008.2(KIF1A):c.3994G>T (p.Ala1332Ser)	KIF1A (A1230S +9 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 30 +2 more	GUncertain significance
Select item 2953397	NM_001244008.2(KIF1A):c.5214+16G>A	KIF1A	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 30 +2 more	GLikely benign
Select item 2953378	NM_001244008.2(KIF1A):c.3063+8G>A	KIF1A	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 30 +2 more	GLikely benign
Select item 2953348	NM_001244008.2(KIF1A):c.1279T>A (p.Ser427Thr)	KIF1A (S452T +3 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 30 +2 more	GUncertain significance
Select item 2953047	NM_001244008.2(KIF1A):c.4744-5C>G	KIF1A	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 30 +2 more	GLikely benign
Select item 2953030	NM_001244008.2(KIF1A):c.1026T>C (p.Leu342=)	KIF1A	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 30 +2 more	GLikely benign
Select item 2952878	NM_001244008.2(KIF1A):c.2023-3C>T	KIF1A	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 30 +2 more	GUncertain significance
Select item 2952851	NM_001244008.2(KIF1A):c.4190C>T (p.Ala1397Val)	KIF1A (A1295V +14 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 30 +2 more	GUncertain significance
Select item 2952839	NM_001244008.2(KIF1A):c.3097T>C (p.Ser1033Pro)	KIF1A (S1016P +7 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 30 +2 more	GUncertain significance
Select item 2952838	NM_001244008.2(KIF1A):c.656C>A (p.Ala219Asp)	KIF1A (A219D)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 30 +2 more	GUncertain significance
Select item 2952765	NM_001244008.2(KIF1A):c.242T>C (p.Met81Thr)	KIF1A (M81T)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 30 +2 more	GUncertain significance
Select item 2952747	NM_001244008.2(KIF1A):c.174G>T (p.Ser58=)	KIF1A	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 30 +2 more	GLikely benign
Select item 2952655	NM_001244008.2(KIF1A):c.1772A>G (p.Asn591Ser)	KIF1A (N616S +3 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 30 +2 more	GUncertain significance
Select item 2952528	NM_001244008.2(KIF1A):c.5344T>C (p.Ser1782Pro)	KIF1A (S1699P +15 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 30 +2 more	GUncertain significance
Select item 2952526	NM_001244008.2(KIF1A):c.106+12C>T	KIF1A	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 30 +2 more	GLikely benign
Select item 2952387	NM_001244008.2(KIF1A):c.1912A>G (p.Lys638Glu)	KIF1A (K654E +3 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 30 +2 more	GUncertain significance
Select item 2952302	NM_001244008.2(KIF1A):c.3465+17T>G	KIF1A	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 30 +2 more	GLikely benign
Select item 2952221	NM_001244008.2(KIF1A):c.3140G>A (p.Gly1047Asp)	KIF1A (G955D +7 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 30 +2 more	GUncertain significance
Select item 2952206	NM_001244008.2(KIF1A):c.4596G>T (p.Pro1532=)	KIF1A	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 30 +2 more	GLikely benign
Select item 2952198	NM_001244008.2(KIF1A):c.1114C>G (p.Leu372Val)	KIF1A (L372V)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 30 +2 more	GPathogenic
Select item 2952197	NM_001244008.2(KIF1A):c.4076C>A (p.Thr1359Asn)	KIF1A (T1266N +14 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 30 +2 more	GUncertain significance
Select item 2952100	NM_001244008.2(KIF1A):c.1577+20C>T	KIF1A	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 30 +2 more	GLikely benign
Select item 2952053	NM_001244008.2(KIF1A):c.3175G>A (p.Asp1059Asn)	KIF1A (D1050N +7 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 30 +2 more	GUncertain significance
Select item 2952041	NM_001244008.2(KIF1A):c.5103G>A (p.Arg1701=)	KIF1A	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 30 +2 more	GLikely benign
Select item 2952023	NM_001244008.2(KIF1A):c.2142G>A (p.Glu714=)	KIF1A	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 30 +2 more	GLikely benign
Select item 2951670	NM_001244008.2(KIF1A):c.3466-4C>G	KIF1A	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 30 +2 more	GUncertain significance
Select item 2951608	NM_001244008.2(KIF1A):c.2871C>T (p.Tyr957=)	KIF1A	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 30 +2 more	GLikely benign
Select item 2951341	NM_001244008.2(KIF1A):c.4122+7C>G	KIF1A	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 30 +2 more	GLikely benign
Select item 2951309	NM_001244008.2(KIF1A):c.2022+17del	KIF1A	Deletion (intron variant)	Hereditary spastic paraplegia 30 +2 more	GBenign
Select item 2951200	NM_001244008.2(KIF1A):c.4324C>T (p.Gln1442Ter)	KIF1A (Q1341* +14 more)	Single nucleotide variant (nonsense)	Hereditary spastic paraplegia 30 +2 more	GPathogenic
Select item 2951081	NM_001244008.2(KIF1A):c.5018T>C (p.Val1673Ala)	KIF1A (V1572A +14 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 30 +2 more	GLikely benign
Select item 2950925	NM_001244008.2(KIF1A):c.3901G>T (p.Gly1301Cys)	KIF1A, LOC126806583 (G1199C +9 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 30 +2 more	GUncertain significance
Select item 2950913	NM_001244008.2(KIF1A):c.4802C>G (p.Ala1601Gly)	KIF1A (A1508G +14 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 30 +2 more	GLikely benign
Select item 2950857	NM_001244008.2(KIF1A):c.1128G>C (p.Val376=)	KIF1A	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 30 +2 more	GLikely benign
Select item 2950848	NM_001244008.2(KIF1A):c.1525G>A (p.Asp509Asn)	KIF1A (D509N +3 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 30 +2 more	GUncertain significance
Select item 2950791	NM_001244008.2(KIF1A):c.3202+16C>A	KIF1A	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 30 +2 more	GLikely benign
Select item 2950776	NM_001244008.2(KIF1A):c.1776C>A (p.Arg592=)	KIF1A	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 30 +2 more	GLikely benign
Select item 2950639	NM_001244008.2(KIF1A):c.1328T>C (p.Ile443Thr)	KIF1A (I443T +3 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 30 +2 more	GUncertain significance
Select item 2950459	NM_001244008.2(KIF1A):c.4008-14C>G	KIF1A	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 30 +2 more	GLikely benign
Select item 2950446	NM_001244008.2(KIF1A):c.2956G>C (p.Val986Leu)	KIF1A (V986L +7 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 30 +2 more	GUncertain significance
Select item 2950303	NM_001244008.2(KIF1A):c.1686T>A (p.Ala562=)	KIF1A	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 30 +2 more	GUncertain significance
Select item 2950295	NM_001244008.2(KIF1A):c.5222A>G (p.Asn1741Ser)	KIF1A (N1639S +15 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 30 +2 more	GUncertain significance
Select item 2950233	NM_001244008.2(KIF1A):c.798+2T>G	KIF1A	Single nucleotide variant (splice donor variant)	Hereditary spastic paraplegia 30 +2 more	GPathogenic
Select item 2950047	NM_001244008.2(KIF1A):c.4898G>C (p.Ser1633Thr)	KIF1A (S1557T +14 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 30 +2 more	GUncertain significance
Select item 2949988	NM_001244008.2(KIF1A):c.3202G>T (p.Ala1068Ser)	KIF1A (A1051S +8 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 30 +2 more	GUncertain significance
Select item 2949794	NM_001244008.2(KIF1A):c.5173G>T (p.Ala1725Ser)	KIF1A (A1632S +14 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 30 +2 more	GUncertain significance
Select item 2949719	NM_001244008.2(KIF1A):c.3745G>A (p.Gly1249Ser)	KIF1A (G1157S +8 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 30 +2 more	GUncertain significance
Select item 2949672	NM_001244008.2(KIF1A):c.1247T>C (p.Leu416Pro)	KIF1A (L432P +3 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 30 +2 more	GUncertain significance
Select item 2949638	NM_001244008.2(KIF1A):c.4648C>A (p.Arg1550=)	KIF1A	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 30 +2 more	GLikely benign
Select item 2949289	NM_001244008.2(KIF1A):c.3247_3248delinsCT (p.Ala1083Leu)	KIF1A (A1007L +8 more)	Indel (missense variant)	Hereditary spastic paraplegia 30 +2 more	GUncertain significance
Select item 2949207	NM_001244008.2(KIF1A):c.3038C>T (p.Ser1013Phe)	KIF1A (S921F +7 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 30 +2 more	GUncertain significance
Select item 2949186	NM_001244008.2(KIF1A):c.1610A>G (p.Asp537Gly)	KIF1A (D528G +3 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 30 +2 more	GUncertain significance
Select item 2948984	NM_001244008.2(KIF1A):c.3234C>T (p.Ser1078=)	KIF1A	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 30 +2 more	GLikely benign
Select item 2948946	NM_001244008.2(KIF1A):c.3639A>T (p.Pro1213=)	KIF1A	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 30 +2 more	GUncertain significance
Select item 2948866	NM_001244008.2(KIF1A):c.1327A>G (p.Ile443Val)	KIF1A (I459V +3 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 30 +2 more	GUncertain significance
Select item 2948832	NM_001244008.2(KIF1A):c.5163C>T (p.Asn1721=)	KIF1A	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 30 +2 more	GLikely benign
Select item 2948481	NM_001244008.2(KIF1A):c.4296C>A (p.His1432Gln)	KIF1A (H1330Q +14 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 30 +2 more	GUncertain significance
Select item 2948444	NM_001244008.2(KIF1A):c.5021+9G>A	KIF1A	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 30 +2 more	GLikely benign
Select item 2948435	NM_001244008.2(KIF1A):c.430-7C>A	KIF1A	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 30 +2 more	GLikely benign
Select item 2948403	NM_001244008.2(KIF1A):c.1999T>C (p.Tyr667His)	KIF1A (Y658H +3 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 30 +2 more	GUncertain significance
Select item 2948401	NM_001244008.2(KIF1A):c.5281G>T (p.Asp1761Tyr)	KIF1A (D1752Y +15 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 30 +2 more	GUncertain significance
Select item 2948192	NM_001244008.2(KIF1A):c.4743+3G>C	KIF1A	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 30 +2 more	GUncertain significance
Select item 2948112	NM_001244008.2(KIF1A):c.4180T>C (p.Ser1394Pro)	KIF1A (S1302P +14 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 30 +2 more	GUncertain significance
Select item 2947983	NM_001244008.2(KIF1A):c.3468C>A (p.Ile1156=)	KIF1A	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 30 +2 more	GUncertain significance
Select item 2947903	NM_001244008.2(KIF1A):c.576C>T (p.Ile192=)	KIF1A	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 30 +2 more	GLikely benign
Select item 2947901	NM_001244008.2(KIF1A):c.4665+11C>T	KIF1A	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 30 +2 more	GLikely benign
Select item 2947811	NM_001244008.2(KIF1A):c.1495A>C (p.Lys499Gln)	KIF1A (K490Q +3 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 30 +2 more	GUncertain significance
Select item 2947756	NM_001244008.2(KIF1A):c.4085G>T (p.Arg1362Leu)	KIF1A (R1354L +14 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 30 +2 more	GUncertain significance
Select item 2947576	NM_001244008.2(KIF1A):c.5091C>A (p.Phe1697Leu)	KIF1A (F1596L +14 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 30 +2 more	GUncertain significance
Select item 2947568	NM_001244008.2(KIF1A):c.4776C>A (p.Asp1592Glu)	KIF1A (D1500E +14 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 30 +2 more	GUncertain significance
Select item 2947514	NM_001244008.2(KIF1A):c.4744-15G>T	KIF1A	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 30 +2 more	GLikely benign
Select item 2947503	NM_001244008.2(KIF1A):c.1180+17G>A	KIF1A	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 30 +2 more	GLikely benign
Select item 2947384	NM_001244008.2(KIF1A):c.5005C>T (p.Gln1669Ter)	KIF1A (Q1577* +14 more)	Single nucleotide variant (nonsense)	Hereditary spastic paraplegia 30 +2 more	GPathogenic
Select item 2947260	NM_001244008.2(KIF1A):c.2372G>T (p.Arg791Leu)	KIF1A (R807L +3 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 30 +2 more	GUncertain significance
Select item 2947163	NM_001244008.2(KIF1A):c.3889G>A (p.Glu1297Lys)	KIF1A, LOC126806583 (E1221K +8 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 30 +2 more	GUncertain significance
Select item 2947108	NM_001244008.2(KIF1A):c.4257-10C>T	KIF1A	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 30 +2 more	GLikely benign
Select item 2947057	NM_001244008.2(KIF1A):c.3697A>G (p.Lys1233Glu)	KIF1A (K1132E +8 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 30 +2 more	GUncertain significance
Select item 2946888	NM_001244008.2(KIF1A):c.2368C>T (p.Pro790Ser)	KIF1A (P781S +3 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 30 +2 more	GUncertain significance
Select item 2946860	NM_001244008.2(KIF1A):c.1350G>A (p.Glu450=)	KIF1A	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 30 +2 more	GLikely benign
Select item 2946786	NM_001244008.2(KIF1A):c.1769-13C>T	KIF1A	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 30 +2 more	GLikely benign
Select item 2946782	NM_001244008.2(KIF1A):c.5367_*11del (p.Met1789_Ter1792delinsXaa)	KIF1A	Deletion (stop lost)	Hereditary spastic paraplegia 30 +2 more	GUncertain significance
Select item 2946720	NM_001244008.2(KIF1A):c.824T>A (p.Leu275Gln)	KIF1A (L275Q)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 30 +2 more	GLikely pathogenic
Select item 2946625	NM_001244008.2(KIF1A):c.3955T>C (p.Leu1319=)	KIF1A	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 30 +2 more	GLikely benign
Select item 2946578	NM_001244008.2(KIF1A):c.4807C>T (p.Leu1603Phe)	KIF1A (L1594F +14 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 30 +2 more	GUncertain significance

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