C5393830[trait identifier] AND "Genetic Services Laboratory, Universit - ClinVar

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Items: 88

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 211295	NM_001244008.2(KIF1A):c.5322C>T (p.Ala1774=)	KIF1A	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +4 more	GConflicting classifications of pathogenicity
Select item 435626	NM_001244008.2(KIF1A):c.5092G>A (p.Val1698Met)	KIF1A (V1597M +14 more)	Single nucleotide variant (missense variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 435620	NM_001244008.2(KIF1A):c.5070G>A (p.Thr1690=)	KIF1A	Single nucleotide variant (synonymous variant)	not specified +7 more	GBenign/Likely benign
Select item 335254	NM_001244008.2(KIF1A):c.5064G>A (p.Pro1688=)	KIF1A	Single nucleotide variant (synonymous variant)	Spastic Paraplegia, Recessive +9 more	GConflicting classifications of pathogenicity
Select item 211294	NM_001244008.2(KIF1A):c.5043G>A (p.Gly1681=)	KIF1A	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia +6 more	GConflicting classifications of pathogenicity
Select item 435638	NM_001244008.2(KIF1A):c.5017G>A (p.Val1673Ile)	KIF1A (V1572I +14 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 30 +3 more	GConflicting classifications of pathogenicity
Select item 377159	NM_001244008.2(KIF1A):c.4971C>A (p.Asp1657Glu)	KIF1A (D1556E +14 more)	Single nucleotide variant (missense variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 211292	NM_001244008.2(KIF1A):c.4927G>A (p.Asp1643Asn)	KIF1A (D1542N +14 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +6 more	GConflicting classifications of pathogenicity
Select item 211291	NM_001244008.2(KIF1A):c.4875G>A (p.Pro1625=)	KIF1A	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +5 more	GBenign/Likely benign
Select item 1336365	NM_001244008.2(KIF1A):c.4812C>T (p.Thr1604=)	KIF1A	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 30 +3 more	GConflicting classifications of pathogenicity
Select item 129395	NM_001244008.2(KIF1A):c.4812C>A (p.Thr1604=)	KIF1A	Single nucleotide variant (synonymous variant)	not provided +6 more	GBenign/Likely benign
Select item 894960	NM_001244008.2(KIF1A):c.4794A>T (p.Leu1598=)	KIF1A	Single nucleotide variant (synonymous variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 211290	NM_001244008.2(KIF1A):c.4781C>T (p.Ser1594Leu)	KIF1A (S1493L +14 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia +6 more	GConflicting classifications of pathogenicity
Select item 435621	NM_001244008.2(KIF1A):c.4779G>A (p.Pro1593=)	KIF1A	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +4 more	GLikely benign
Select item 335258	NM_001244008.2(KIF1A):c.4778C>T (p.Pro1593Leu)	KIF1A (P1593L +14 more)	Single nucleotide variant (missense variant)	not specified +5 more	GConflicting classifications of pathogenicity
Select item 1338222	NM_001244008.2(KIF1A):c.4750G>A (p.Glu1584Lys)	KIF1A (E1482K +14 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 30 +4 more	GUncertain significance
Select item 129398	NM_001244008.2(KIF1A):c.4749C>T (p.Ser1583=)	KIF1A	Single nucleotide variant (synonymous variant)	not specified +5 more	GConflicting classifications of pathogenicity
Select item 335259	NM_001244008.2(KIF1A):c.4744-5C>T	KIF1A	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 30 +5 more	GConflicting classifications of pathogenicity
Select item 435622	NM_001244008.2(KIF1A):c.4716C>T (p.His1572=)	KIF1A	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +4 more	GConflicting classifications of pathogenicity
Select item 767278	NM_001244008.2(KIF1A):c.4683G>A (p.Thr1561=)	KIF1A	Single nucleotide variant (synonymous variant)	not specified +3 more	GLikely benign
Select item 435623	NM_001244008.2(KIF1A):c.4665+4G>C	KIF1A	Single nucleotide variant (intron variant)	Intellectual disability, autosomal dominant 9 +4 more	GUncertain significance
Select item 211289	NM_001244008.2(KIF1A):c.4638C>T (p.Asn1546=)	KIF1A	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 30 +5 more	GConflicting classifications of pathogenicity
Select item 211288	NM_001244008.2(KIF1A):c.4604C>T (p.Ala1535Val)	KIF1A (A1434V +14 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia +7 more	GConflicting classifications of pathogenicity
Select item 211287	NM_001244008.2(KIF1A):c.4585G>A (p.Ala1529Thr)	KIF1A (A1428T +14 more)	Single nucleotide variant (missense variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 751764	NM_001244008.2(KIF1A):c.4584C>T (p.Ser1528=)	KIF1A	Single nucleotide variant (synonymous variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 246243	NM_001244008.2(KIF1A):c.4511C>T (p.Thr1504Ile)	KIF1A (T1403I +14 more)	Single nucleotide variant (missense variant)	not specified +7 more	GConflicting classifications of pathogenicity
Select item 129394	NM_001244008.2(KIF1A):c.4319-8C>T	KIF1A	Single nucleotide variant (intron variant)	not provided +5 more	GBenign
Select item 435633	NM_001244008.2(KIF1A):c.4217G>A (p.Arg1406His)	KIF1A (R1305H +14 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 9 +4 more	GConflicting classifications of pathogenicity
Select item 129393	NM_001244008.2(KIF1A):c.4143G>A (p.Pro1381=)	KIF1A	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 30 +5 more	GBenign
Select item 435624	NM_001244008.2(KIF1A):c.4119C>T (p.Ile1373=)	KIF1A	Single nucleotide variant (synonymous variant)	not specified +4 more	GLikely benign
Select item 435634	NM_001244008.2(KIF1A):c.4004A>G (p.Asp1335Gly)	KIF1A (D1234G +9 more)	Single nucleotide variant (missense variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 211286	NM_001244008.2(KIF1A):c.3898G>A (p.Val1300Met)	KIF1A, LOC126806583 (V1199M +8 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 30 +4 more	GConflicting classifications of pathogenicity
Select item 335266	NM_001244008.2(KIF1A):c.3888C>T (p.Arg1296=)	KIF1A, LOC126806583	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia +6 more	GConflicting classifications of pathogenicity
Select item 1331328	NM_001244008.2(KIF1A):c.3836C>T (p.Thr1279Met)	KIF1A, LOC126806583 (T1177M +8 more)	Single nucleotide variant (missense variant)	KIF1A-related disorder +6 more	GUncertain significance
Select item 532889	NM_001244008.2(KIF1A):c.3669G>A (p.Thr1223=)	KIF1A	Single nucleotide variant (synonymous variant)	not specified +4 more	GLikely benign
Select item 208649	NM_001244008.2(KIF1A):c.3668C>T (p.Thr1223Met)	KIF1A (T1122M +8 more)	Single nucleotide variant (missense variant)	Spastic Paraplegia, Recessive +9 more	GConflicting classifications of pathogenicity
Select item 129391	NM_001244008.2(KIF1A):c.3641-8C>T	KIF1A	Single nucleotide variant (intron variant)	not provided +4 more	GBenign
Select item 1305264	NM_001244008.2(KIF1A):c.3580C>T (p.Leu1194Phe)	KIF1A (L1092F +8 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 30 +4 more	GUncertain significance
Select item 211285	NM_001244008.2(KIF1A):c.3468C>T (p.Ile1156=)	KIF1A	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 30 +4 more	GConflicting classifications of pathogenicity
Select item 211284	NM_001244008.2(KIF1A):c.3345C>G (p.Ala1115=)	KIF1A	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia +7 more	GConflicting classifications of pathogenicity
Select item 589276	NM_001244008.2(KIF1A):c.3288C>T (p.Arg1096=)	KIF1A	Single nucleotide variant (synonymous variant)	not provided +6 more	GConflicting classifications of pathogenicity
Select item 129390	NM_001244008.2(KIF1A):c.3282C>T (p.His1094=)	KIF1A	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 30 +6 more	GBenign/Likely benign
Select item 196129	NM_001244008.2(KIF1A):c.3259C>T (p.Pro1087Ser)	KIF1A (P1087S +8 more)	Single nucleotide variant (missense variant)	History of neurodevelopmental disorder +6 more	GConflicting classifications of pathogenicity
Select item 211283	NM_001244008.2(KIF1A):c.3246C>T (p.Ala1082=)	KIF1A	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia +6 more	GConflicting classifications of pathogenicity
Select item 435627	NM_001244008.2(KIF1A):c.3219CCT[2] (p.Leu1076del)	KIF1A (L1076del +8 more)	Microsatellite (inframe_deletion)	Hereditary spastic paraplegia +4 more	GUncertain significance
Select item 129397	NM_001244008.2(KIF1A):c.3202+10C>A	KIF1A	Single nucleotide variant (intron variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 703095	NM_001244008.2(KIF1A):c.3202+8G>A	KIF1A	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 30 +5 more	GConflicting classifications of pathogenicity
Select item 388175	NM_001244008.2(KIF1A):c.3132C>A (p.Ile1044=)	KIF1A	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +6 more	GConflicting classifications of pathogenicity
Select item 435628	NM_001244008.2(KIF1A):c.3104C>T (p.Ser1035Leu)	KIF1A (S1035L +7 more)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 245637	NM_001244008.2(KIF1A):c.3085G>A (p.Val1029Met)	KIF1A (V1029M +7 more)	Single nucleotide variant (missense variant)	KIF1A-related disorder +7 more	GConflicting classifications of pathogenicity
Select item 382569	NM_001244008.2(KIF1A):c.3072C>G (p.Ser1024=)	KIF1A	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +6 more	GConflicting classifications of pathogenicity
Select item 129389	NM_001244008.2(KIF1A):c.3072C>T (p.Ser1024=)	KIF1A	Single nucleotide variant (synonymous variant)	not specified +6 more	GBenign
Select item 129388	NM_001244008.2(KIF1A):c.2979C>T (p.Ala993=)	KIF1A	Single nucleotide variant (synonymous variant)	not specified +6 more	GConflicting classifications of pathogenicity
Select item 211281	NM_001244008.2(KIF1A):c.2958G>C (p.Val986=)	KIF1A	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia +6 more	GConflicting classifications of pathogenicity
Select item 435635	NM_001244008.2(KIF1A):c.2954G>A (p.Arg985His)	KIF1A (R884H +7 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 30 +3 more	GUncertain significance
Select item 211280	NM_001244008.2(KIF1A):c.2898C>G (p.Pro966=)	KIF1A	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 30 +6 more	GConflicting classifications of pathogenicity
Select item 211279	NM_001244008.2(KIF1A):c.2532C>T (p.Thr844=)	KIF1A	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 30 +4 more	GConflicting classifications of pathogenicity
Select item 211278	NM_001244008.2(KIF1A):c.2475C>T (p.Tyr825=)	KIF1A	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia +6 more	GConflicting classifications of pathogenicity
Select item 129387	NM_001244008.2(KIF1A):c.2385C>T (p.Ala795=)	KIF1A	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 30 +6 more	GBenign/Likely benign
Select item 1009584	NM_001244008.2(KIF1A):c.2341G>A (p.Ala781Thr)	KIF1A (A772T +3 more)	Single nucleotide variant (missense variant)	not specified +5 more	GConflicting classifications of pathogenicity
Select item 129385	NM_001244008.2(KIF1A):c.2235C>T (p.Ala745=)	KIF1A	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 30 +5 more	GBenign
Select item 211277	NM_001244008.2(KIF1A):c.2132G>A (p.Arg711Gln)	KIF1A (R702Q +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +6 more	GConflicting classifications of pathogenicity
Select item 1254513	NM_001244008.2(KIF1A):c.2089GAG[6] (p.Glu701dup)	KIF1A	Microsatellite (inframe_insertion)	not provided +5 more	GUncertain significance
Select item 1145362	NM_001244008.2(KIF1A):c.1949+7C>T	KIF1A	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 30 +3 more	GConflicting classifications of pathogenicity
Select item 435629	NM_001244008.2(KIF1A):c.1898G>A (p.Arg633His)	KIF1A (R624H +3 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 9 +1 more	GConflicting classifications of pathogenicity
Select item 211276	NM_001244008.2(KIF1A):c.1862C>T (p.Thr621Met)	KIF1A (T612M +3 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 30 +4 more	GUncertain significance
Select item 246249	NM_001244008.2(KIF1A):c.1663G>A (p.Asp555Asn)	KIF1A (D546N +3 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 30 +6 more	GConflicting classifications of pathogenicity
Select item 129384	NM_001244008.2(KIF1A):c.1503A>G (p.Pro501=)	KIF1A	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 30 +6 more	GBenign/Likely benign
Select item 435630	NM_001244008.2(KIF1A):c.1363G>C (p.Glu455Gln)	KIF1A (E446Q +3 more)	Single nucleotide variant (missense variant)	not specified +4 more	GUncertain significance
Select item 1021749	NM_001244008.2(KIF1A):c.1341+8C>T	KIF1A	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 30 +3 more	GConflicting classifications of pathogenicity
Select item 129396	NM_001244008.2(KIF1A):c.991T>C (p.Leu331=)	KIF1A	Single nucleotide variant (synonymous variant)	not provided +6 more	GBenign
Select item 435636	NM_001244008.2(KIF1A):c.919C>G (p.Arg307Gly)	KIF1A (R307G)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 9	GLikely pathogenic
Select item 211300	NM_001244008.2(KIF1A):c.883-3C>T	KIF1A	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 30 +4 more	GConflicting classifications of pathogenicity
Select item 211299	NM_001244008.2(KIF1A):c.849C>T (p.Ser283=)	KIF1A	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia +6 more	GConflicting classifications of pathogenicity
Select item 211298	NM_001244008.2(KIF1A):c.821C>T (p.Ser274Leu)	KIF1A (S274L)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 335279	NM_001244008.2(KIF1A):c.714G>A (p.Thr238=)	KIF1A	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 30 +4 more	GConflicting classifications of pathogenicity
Select item 211296	NM_001244008.2(KIF1A):c.609-8C>T	KIF1A	Single nucleotide variant (intron variant)	not provided +4 more	GLikely benign
Select item 435631	NM_001244008.2(KIF1A):c.560C>T (p.Thr187Ile)	KIF1A (T187I)	Single nucleotide variant (missense variant)	Inborn genetic diseases +4 more	GUncertain significance
Select item 435637	NM_001244008.2(KIF1A):c.408C>G (p.Asp136Glu)	KIF1A (D136E)	Single nucleotide variant (missense variant)	Neuropathy, hereditary sensory, type 2C +4 more	GUncertain significance
Select item 129392	NM_001244008.2(KIF1A):c.393C>T (p.Asn131=)	KIF1A	Single nucleotide variant (synonymous variant)	not specified +5 more	GBenign
Select item 382122	NM_001244008.2(KIF1A):c.258T>C (p.Phe86=)	KIF1A	Single nucleotide variant (synonymous variant)	Neuropathy, hereditary sensory, type 2C +4 more	GConflicting classifications of pathogenicity
Select item 129386	NM_001244008.2(KIF1A):c.234C>T (p.Gly78=)	KIF1A	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 30 +5 more	GBenign
Select item 435625	NM_001244008.2(KIF1A):c.231C>T (p.Ile77=)	KIF1A	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +4 more	GBenign/Likely benign
Select item 335282	NM_001244008.2(KIF1A):c.204G>T (p.Ala68=)	KIF1A	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 30 +6 more	GConflicting classifications of pathogenicity
Select item 335285	NM_001244008.2(KIF1A):c.183+7C>T	KIF1A	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 30 +5 more	GConflicting classifications of pathogenicity
Select item 162052	NM_001244008.2(KIF1A):c.173C>T (p.Ser58Leu)	KIF1A (S58L)	Single nucleotide variant (missense variant)	Neuropathy, hereditary sensory, type 2C +5 more	GPathogenic/Likely pathogenic
Select item 389869	NM_001244008.2(KIF1A):c.138G>A (p.Thr46=)	KIF1A	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +5 more	GConflicting classifications of pathogenicity
Select item 1195590	NM_001244008.2(KIF1A):c.53G>A (p.Arg18Gln)	KIF1A (R18Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases +5 more	GUncertain significance

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Items: 88