"PreventionGenetics, part of Exact Sciences"[submitter] AND "KIF1A"[ge - ClinVar

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Items: 79

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3061632	NM_001244008.2(KIF1A):c.*10C>G	KIF1A	Single nucleotide variant (3 prime UTR variant)	KIF1A-related disorder	GLikely benign
Select item 532905	NM_001244008.2(KIF1A):c.5333+8C>T	KIF1A	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 30 +3 more	GLikely benign
Select item 532908	NM_001244008.2(KIF1A):c.5241G>A (p.Thr1747=)	KIF1A	Single nucleotide variant (synonymous variant)	KIF1A-related disorder +5 more	GLikely benign
Select item 2633470	NM_001244008.2(KIF1A):c.5230G>A (p.Ala1744Thr)	KIF1A (A1631T +15 more)	Single nucleotide variant (missense variant)	KIF1A-related disorder	GUncertain significance
Select item 464259	NM_001244008.2(KIF1A):c.5155G>A (p.Val1719Met)	KIF1A (V1618M +14 more)	Single nucleotide variant (missense variant)	KIF1A-related disorder +5 more	GConflicting classifications of pathogenicity
Select item 2416953	NM_001244008.2(KIF1A):c.5133C>G (p.Asp1711Glu)	KIF1A (D1609E +14 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 9 +3 more	GUncertain significance
Select item 1546301	NM_001244008.2(KIF1A):c.5130C>T (p.Ser1710=)	KIF1A	Single nucleotide variant (synonymous variant)	KIF1A-related disorder +3 more	GLikely benign
Select item 435620	NM_001244008.2(KIF1A):c.5070G>A (p.Thr1690=)	KIF1A	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia +7 more	GBenign/Likely benign
Select item 2632427	NM_001244008.2(KIF1A):c.5027T>A (p.Ile1676Asn)	KIF1A (I1574N +14 more)	Single nucleotide variant (missense variant)	KIF1A-related disorder	GUncertain significance
Select item 2630842	NM_001244008.2(KIF1A):c.5003T>C (p.Ile1668Thr)	KIF1A (I1566T +14 more)	Single nucleotide variant (missense variant)	KIF1A-related disorder	GUncertain significance
Select item 2054754	NM_001244008.2(KIF1A):c.4967C>G (p.Thr1656Arg)	KIF1A (T1563R +14 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 30 +5 more	GConflicting classifications of pathogenicity
Select item 335256	NM_001244008.2(KIF1A):c.4889G>A (p.Arg1630Gln)	KIF1A (R1630Q +14 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 30 +6 more	GConflicting classifications of pathogenicity
Select item 377242	NM_001244008.2(KIF1A):c.4771C>T (p.Arg1591Trp)	KIF1A (R1490W +14 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 30 +6 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 464254	NM_001244008.2(KIF1A):c.4722C>T (p.Cys1574=)	KIF1A	Single nucleotide variant (synonymous variant)	KIF1A-related disorder +4 more	GLikely benign
Select item 464253	NM_001244008.2(KIF1A):c.4612C>T (p.Arg1538Cys)	KIF1A (R1437C +14 more)	Single nucleotide variant (missense 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 30 +7 more	GConflicting classifications of pathogenicity
Select item 3030275	NM_001244008.2(KIF1A):c.4452_4457del (p.Ser1484_Leu1486delinsArg)	KIF1A	Deletion (inframe_indel)	KIF1A-related disorder	GUncertain significance
Select item 464249	NM_001244008.2(KIF1A):c.4374C>T (p.Gly1458=)	KIF1A	Single nucleotide variant (synonymous variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 2039874	NM_001244008.2(KIF1A):c.4208G>T (p.Arg1403Leu)	KIF1A (R1301L +14 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 30 +3 more	GConflicting classifications of pathogenicity
Select item 706895	NM_001244008.2(KIF1A):c.4176C>T (p.Phe1392=)	KIF1A	Single nucleotide variant (synonymous variant)	Neuropathy, hereditary sensory, type 2C +4 more	GLikely benign
Select item 3033173	NM_001244008.2(KIF1A):c.4171_4173del (p.Val1391del)	KIF1A (V1289del +14 more)	Deletion (inframe deletion +1 more)	KIF1A-related disorder	GUncertain significance
Select item 2633997	NM_001244008.2(KIF1A):c.4025A>T (p.Glu1342Val)	KIF1A (E1240V +14 more)	Single nucleotide variant (missense variant)	KIF1A-related disorder	GUncertain significance
Select item 464242	NM_001244008.2(KIF1A):c.4007+8G>A	KIF1A	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 30 +3 more	GLikely benign
Select item 451113	NM_001244008.2(KIF1A):c.3928G>A (p.Asp1310Asn)	KIF1A (D1209N +9 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +5 more	GConflicting classifications of pathogenicity
Select item 795547	NM_001244008.2(KIF1A):c.3927C>T (p.Thr1309=)	KIF1A	Single nucleotide variant (synonymous variant)	KIF1A-related disorder +3 more	GLikely benign
Select item 3029384	NM_001244008.2(KIF1A):c.3907A>G (p.Ile1303Val)	KIF1A (I1201V +9 more)	Single nucleotide variant (missense variant)	KIF1A-related disorder	GUncertain significance
Select item 3057050	NM_001244008.2(KIF1A):c.3875G>A (p.Trp1292Ter)	KIF1A, LOC126806583 (W1190* +8 more)	Single nucleotide variant (nonsense)	KIF1A-related disorder	GLikely pathogenic
Select item 1331328	NM_001244008.2(KIF1A):c.3836C>T (p.Thr1279Met)	KIF1A, LOC126806583 (T1177M +8 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 30 +6 more	GUncertain significance
Select item 576241	NM_001244008.2(KIF1A):c.3826C>T (p.Arg1276Ter)	KIF1A, LOC126806583 (R1175* +8 more)	Single nucleotide variant (nonsense)	KIF1A-related disorder +4 more	GConflicting classifications of pathogenicity
Select item 1121963	NM_001244008.2(KIF1A):c.3645C>T (p.Pro1215=)	KIF1A	Single nucleotide variant (synonymous variant)	KIF1A-related disorder +3 more	GLikely benign
Select item 1441415	NM_001244008.2(KIF1A):c.3554C>T (p.Pro1185Leu)	KIF1A (P1084L +8 more)	Single nucleotide variant (missense variant)	KIF1A-related disorder +4 more	GConflicting classifications of pathogenicity
Select item 532892	NM_001244008.2(KIF1A):c.3405C>T (p.Ser1135=)	KIF1A	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 30 +3 more	GConflicting classifications of pathogenicity
Select item 707421	NM_001244008.2(KIF1A):c.3345C>T (p.Ala1115=)	KIF1A	Single nucleotide variant (synonymous variant)	Neuropathy, hereditary sensory, type 2C +3 more	GLikely benign
Select item 211284	NM_001244008.2(KIF1A):c.3345C>G (p.Ala1115=)	KIF1A	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +7 more	GConflicting classifications of pathogenicity
Select item 335271	NM_001244008.2(KIF1A):c.3247G>A (p.Ala1083Thr)	KIF1A (A982T +8 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 30 +6 more	GConflicting classifications of pathogenicity
Select item 1552217	NM_001244008.2(KIF1A):c.3203-10C>T	KIF1A	Single nucleotide variant (intron variant)	KIF1A-related disorder +3 more	GLikely benign
Select item 703095	NM_001244008.2(KIF1A):c.3202+8G>A	KIF1A	Single nucleotide variant (intron variant)	KIF1A-related disorder +5 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)	not provided +6 more	GConflicting classifications of pathogenicity
Select item 129389	NM_001244008.2(KIF1A):c.3072C>T (p.Ser1024=)	KIF1A	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 30 +6 more	GBenign
Select item 1798000	NM_001244008.2(KIF1A):c.2949C>A (p.Phe983Leu)	KIF1A (F974L +7 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +4 more	GConflicting classifications of pathogenicity
Select item 65859	NM_001244008.2(KIF1A):c.2840del (p.Leu947fs)	KIF1A (L947fs +3 more)	Deletion (frameshift variant +1 more)	Neuropathy, hereditary sensory, type 2C +3 more	GPathogenic
Select item 2630251	NM_001244008.2(KIF1A):c.2827G>A (p.Asp943Asn)	KIF1A (D926N +3 more)	Single nucleotide variant (missense variant +1 more)	KIF1A-related disorder	GUncertain significance
Select item 497030	NM_001244008.2(KIF1A):c.2721GGA[12] (p.Glu917dup)	KIF1A	Microsatellite (inframe_insertion +1 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 1341632	NM_001244008.2(KIF1A):c.2721GGA[8] (p.Glu915_Glu917del)	KIF1A	Microsatellite (inframe_deletion +1 more)	KIF1A-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 994639	NM_001244008.2(KIF1A):c.2694C>G (p.Thr898=)	KIF1A	Single nucleotide variant (synonymous variant +1 more)	not specified +2 more	GBenign/Likely benign
Select item 513625	NM_001244008.2(KIF1A):c.2582+7G>A	KIF1A	Single nucleotide variant (intron variant)	not specified +5 more	GConflicting classifications of pathogenicity
Select item 1331223	NM_001244008.2(KIF1A):c.2476G>A (p.Asp826Asn)	KIF1A (D817N +3 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 30 +4 more	GUncertain significance
Select item 1094406	NM_001244008.2(KIF1A):c.2214C>T (p.Asn738=)	KIF1A	Single nucleotide variant (synonymous variant)	KIF1A-related disorder +4 more	GLikely benign
Select item 211277	NM_001244008.2(KIF1A):c.2132G>A (p.Arg711Gln)	KIF1A (R702Q +3 more)	Single nucleotide variant (missense variant)	not specified +6 more	GConflicting classifications of pathogenicity
Select item 705538	NM_001244008.2(KIF1A):c.2079G>A (p.Pro693=)	KIF1A	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +5 more	GLikely benign
Select item 464216	NM_001244008.2(KIF1A):c.2022+9C>T	KIF1A	Single nucleotide variant (intron variant)	KIF1A-related disorder +4 more	GLikely benign
Select item 1052309	NM_001244008.2(KIF1A):c.1949+6G>A	KIF1A	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 30 +3 more	GConflicting classifications of pathogenicity
Select item 2081813	NM_001244008.2(KIF1A):c.1843C>T (p.Arg615Cys)	KIF1A (R606C +3 more)	Single nucleotide variant (missense variant)	KIF1A-related disorder +3 more	GUncertain significance
Select item 3058022	NM_001244008.2(KIF1A):c.1761G>A (p.Leu587=)	KIF1A	Single nucleotide variant (synonymous variant)	KIF1A-related disorder	GLikely benign
Select item 1112459	NM_001244008.2(KIF1A):c.1725C>T (p.Tyr575=)	KIF1A	Single nucleotide variant (synonymous variant)	KIF1A-related disorder +4 more	GConflicting classifications of pathogenicity
Select item 1405447	NM_001244008.2(KIF1A):c.1681G>A (p.Glu561Lys)	KIF1A (E561K +3 more)	Single nucleotide variant (missense variant)	Neuropathy, hereditary sensory, type 2C +3 more	GUncertain significance
Select item 464215	NM_001244008.2(KIF1A):c.1680C>T (p.Ser560=)	KIF1A	Single nucleotide variant (synonymous variant)	KIF1A-related disorder +4 more	GLikely benign
Select item 1128465	NM_001244008.2(KIF1A):c.1521C>T (p.Asn507=)	KIF1A	Single nucleotide variant (synonymous variant)	KIF1A-related disorder +3 more	GLikely benign
Select item 464212	NM_001244008.2(KIF1A):c.1421+10G>A	KIF1A	Single nucleotide variant (intron variant)	KIF1A-related disorder +3 more	GLikely benign
Select item 858148	NM_001244008.2(KIF1A):c.1266C>T (p.Arg422=)	KIF1A	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 30 +4 more	GConflicting classifications of pathogenicity
Select item 1602805	NM_001244008.2(KIF1A):c.1208-14C>T	KIF1A	Single nucleotide variant (synonymous variant +1 more)	KIF1A-related disorder +4 more	GLikely benign
Select item 977377	NM_001244008.2(KIF1A):c.1208-40G>A	KIF1A (G406S +1 more)	Single nucleotide variant (missense variant +1 more)	Intellectual disability, autosomal dominant 9 +2 more	GConflicting classifications of pathogenicity
Select item 3035967	NM_001244008.2(KIF1A):c.1208-68C>T	KIF1A	Single nucleotide variant (synonymous variant +1 more)	KIF1A-related disorder	GLikely benign
Select item 3042297	NM_001244008.2(KIF1A):c.1208-71G>A	KIF1A	Single nucleotide variant (synonymous variant +1 more)	KIF1A-related disorder	GBenign
Select item 679511	NM_001244008.2(KIF1A):c.1208-73G>A	KIF1A (V404M +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 532895	NM_001244008.2(KIF1A):c.1110C>T (p.Arg370=)	KIF1A	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 30 +5 more	GLikely benign
Select item 418275	NM_001244008.2(KIF1A):c.920G>A (p.Arg307Gln)	KIF1A (R307Q)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 9 +4 more	GPathogenic/Likely pathogenic
Select item 1344387	NM_001244008.2(KIF1A):c.799-5C>T	KIF1A	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia +4 more	GConflicting classifications of pathogenicity
Select item 2159132	NM_001244008.2(KIF1A):c.704A>G (p.Asn235Ser)	KIF1A (N235S)	Single nucleotide variant (missense variant)	KIF1A-related disorder +3 more	GUncertain significance
Select item 532907	NM_001244008.2(KIF1A):c.693C>T (p.Asp231=)	KIF1A	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 30 +4 more	GLikely benign
Select item 702325	NM_001244008.2(KIF1A):c.363+7A>G	KIF1A	Single nucleotide variant (intron variant)	Neuropathy, hereditary sensory, type 2C +3 more	GLikely benign
Select item 3040816	NM_001244008.2(KIF1A):c.363+6A>C	KIF1A	Single nucleotide variant (intron variant)	KIF1A-related disorder	GLikely benign
Select item 30169	NM_001244008.2(KIF1A):c.296C>T (p.Thr99Met)	KIF1A (T99M)	Single nucleotide variant (missense variant)	KIF1A-related disorder +5 more	GPathogenic
Select item 392211	NM_001244008.2(KIF1A):c.204G>A (p.Ala68=)	KIF1A	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 30 +6 more	GLikely benign
Select item 1593992	NM_001244008.2(KIF1A):c.201C>T (p.Tyr67=)	KIF1A	Single nucleotide variant (synonymous variant)	KIF1A-related disorder +3 more	GLikely benign
Select item 752551	NM_001244008.2(KIF1A):c.183+8G>A	KIF1A	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 30 +3 more	GLikely benign
Select item 2633836	NM_001244008.2(KIF1A):c.142A>G (p.Lys48Glu)	KIF1A (K48E)	Single nucleotide variant (missense variant)	KIF1A-related disorder	GLikely pathogenic

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Items: 79