ClinVar for Gene (Select 64147) - ClinVar

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Links from Gene

Items: 61

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3288669	NM_182902.4(KIF9):c.1372A>G (p.Ile458Val)	KIF9 (I472V +3 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3288668	NM_182902.4(KIF9):c.956G>A (p.Gly319Glu)	KIF9 (G244E +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3288666	NM_182902.4(KIF9):c.1676C>T (p.Ser559Leu)	KIF9, KIF9-AS1 (S559L +3 more)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 3288665	NM_182902.4(KIF9):c.1988T>C (p.Leu663Pro)	KIF9, KIF9-AS1 (L598P +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3288664	NM_182902.4(KIF9):c.1817G>A (p.Arg606Gln)	KIF9, KIF9-AS1 (R466Q +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3288663	NM_182902.4(KIF9):c.1869G>C (p.Glu623Asp)	KIF9, KIF9-AS1 (E548D +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3288662	NM_182902.4(KIF9):c.1485G>C (p.Lys495Asn)	KIF9 (K528N +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3114995	NM_182902.4(KIF9):c.35G>A (p.Arg12His)	KIF9 (R12H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3114994	NM_182902.4(KIF9):c.2323C>A (p.His775Asn)	KIF9, KIF9-AS1 (H775N +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3114993	NM_182902.4(KIF9):c.2291T>C (p.Phe764Ser)	KIF9, KIF9-AS1 (F689S +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3114992	NM_182902.4(KIF9):c.2146A>T (p.Met716Leu)	KIF9, KIF9-AS1 (M576L +5 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3114991	NM_182902.4(KIF9):c.1905G>T (p.Lys635Asn)	KIF9, KIF9-AS1 (K570N +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3114990	NM_182902.4(KIF9):c.1902G>C (p.Gln634His)	KIF9, KIF9-AS1 (Q494H +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3114989	NM_182902.4(KIF9):c.1736T>C (p.Val579Ala)	KIF9, KIF9-AS1 (V504A +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3114988	NM_182902.4(KIF9):c.1721C>T (p.Pro574Leu)	KIF9, KIF9-AS1 (P434L +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3114987	NM_182902.4(KIF9):c.1699C>T (p.Arg567Cys)	KIF9, KIF9-AS1 (R492C +3 more)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 3114986	NM_182902.4(KIF9):c.1502A>G (p.Lys501Arg)	KIF9 (K426R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3114985	NM_182902.4(KIF9):c.149A>G (p.Gln50Arg)	KIF9 (Q64R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3114983	NM_182902.4(KIF9):c.1276C>T (p.Arg426Trp)	KIF9 (R426W +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3114982	NM_182902.4(KIF9):c.1267A>T (p.Asn423Tyr)	KIF9 (N348Y +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3114981	NM_182902.4(KIF9):c.1266C>G (p.Phe422Leu)	KIF9 (F347L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3114980	NM_182902.4(KIF9):c.1173G>C (p.Gln391His)	KIF9 (Q391H +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3114979	NM_182902.4(KIF9):c.1117C>A (p.His373Asn)	KIF9 (H298N +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3114978	NM_182902.4(KIF9):c.1111G>A (p.Ala371Thr)	KIF9 (A296T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2685916	GRCh37/hg19 3p21.31(chr3:47068320-47478497)x3	KIF9, KLHL18 +3 more	Copy number gain	not provided	GUncertain significance
Select item 2653753	NM_182902.4(KIF9):c.78C>T (p.Tyr26=)	KIF9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2619846	NM_182902.4(KIF9):c.835A>G (p.Ile279Val)	KIF9 (I279V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2619298	NM_182902.4(KIF9):c.1824A>T (p.Lys608Asn)	KIF9, KIF9-AS1 (K533N +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2616727	NM_182902.4(KIF9):c.442A>G (p.Ser148Gly)	KIF9 (S148G +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2605253	NM_182902.4(KIF9):c.2011C>T (p.Arg671Cys)	KIF9, KIF9-AS1 (R531C +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2603637	NM_182902.4(KIF9):c.950T>C (p.Ile317Thr)	KIF9 (I331T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2595113	NM_182902.4(KIF9):c.1853A>G (p.Asn618Ser)	KIF9, KIF9-AS1 (N478S +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2558455	NM_182902.4(KIF9):c.1981C>A (p.Leu661Ile)	KIF9, KIF9-AS1 (L586I +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2542691	NM_182902.4(KIF9):c.2207T>C (p.Ile736Thr)	KIF9, KIF9-AS1 (I750T +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2491211	NM_182902.4(KIF9):c.340G>A (p.Gly114Arg)	KIF9 (G147R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2476589	NM_182902.4(KIF9):c.2143G>C (p.Asp715His)	KIF9, KIF9-AS1 (D640H +5 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2461205	NM_182902.4(KIF9):c.1865G>A (p.Arg622Gln)	KIF9, KIF9-AS1 (R547Q +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2459171	NM_182902.4(KIF9):c.1229T>A (p.Ile410Asn)	KIF9 (I335N +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2425908	NC_000003.11:g.(?_47079136)_(47454675_?)dup	KIF9, KLHL18 +2 more	Duplication	Luscan-Lumish syndrome	GUncertain significance
Select item 2425284	NC_000003.11:g.(?_45435946)_(49137751_?)dup	CCR1, CCR2 +66 more	Duplication	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome	GUncertain significance
Select item 2399825	NM_182902.4(KIF9):c.2180G>C (p.Arg727Pro)	KIF9, KIF9-AS1 (R652P +5 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2351162	NM_182902.4(KIF9):c.910T>A (p.Ser304Thr)	KIF9 (S229T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2331821	NM_182902.4(KIF9):c.1910T>C (p.Leu637Pro)	KIF9, KIF9-AS1 (L497P +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2321755	NM_182902.4(KIF9):c.353G>A (p.Arg118His)	KIF9 (R132H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2310886	NM_182902.4(KIF9):c.137T>G (p.Val46Gly)	KIF9 (V60G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2307273	NM_182902.4(KIF9):c.1639C>T (p.Arg547Trp)	KIF9, KIF9-AS1 (R547W +3 more)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 2299869	NM_182902.4(KIF9):c.964G>A (p.Ala322Thr)	KIF9 (A322T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2275208	NM_182902.4(KIF9):c.611T>C (p.Ile204Thr)	KIF9 (I129T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2247356	NM_182902.4(KIF9):c.199G>A (p.Asp67Asn)	KIF9 (D81N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2244675	NM_182902.4(KIF9):c.449T>A (p.Phe150Tyr)	KIF9 (F150Y +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2206043	NM_182902.4(KIF9):c.1498T>C (p.Phe500Leu)	KIF9 (F514L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1809103	GRCh37/hg19 3p21.31(chr3:47188373-47338349)x3	KIF9, KLHL18 +1 more	Copy number gain	not provided	GUncertain significance
Select item 1808225	GRCh37/hg19 3p21.31(chr3:47188373-47350231)x3	KIF9, KLHL18 +1 more	Copy number gain	not provided	GUncertain significance
Select item 1341974	GRCh37/hg19 3p21.31(chr3:44948482-49115809)x1	NCKIPSD, NDUFAF3 +71 more	Copy number loss	not provided	GPathogenic
Select item 686277	GRCh37/hg19 3p21.31(chr3:47068320-47472020)x3	KIF9, KLHL18 +3 more	Copy number gain	not provided	GUncertain significance
Select item 625696	GRCh37/hg19 3p21.31-21.1(chr3:45153770-53878616)	APEH, HEMK1 +177 more	Copy number gain	not provided	GPathogenic
Select item 503595	GRCh37/hg19 3p21.31(chr3:47069054-47468261)x3	PTPN23, SCAP +3 more	Copy number gain	See cases	GUncertain significance
Select item 442401	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3	HHLA2, HIGD1A +1054 more	Copy number gain	See cases	GPathogenic
Select item 442400	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)	A4GNT, AADAC +1054 more	Copy number gain	See cases	GPathogenic
Select item 253356	GRCh37/hg19 3p22.2-21.31(chr3:37028313-49929220)x3	ABHD5, ACAA1 +177 more	Copy number gain	See cases	GLikely pathogenic
Select item 144168	GRCh38/hg38 3p21.31-21.2(chr3:45879883-50749922)x4	ALS2CL, AMIGO3 +379 more	Copy number gain	See cases	GPathogenic

ClinVar

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Links from Gene

Items: 61