KIF9-AS1[gene] - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 24

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144168	GRCh38/hg38 3p21.31-21.2(chr3:45879883-50749922)x4	ALS2CL, AMIGO3 +379 more	Copy number gain	See cases	GPathogenic
Select item 1696498	Single allele	KIF9-AS1, LOC129936664 +3 more	Deletion	Luscan-Lumish syndrome	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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 24