"Ambry Genetics"[submitter] AND "IQUB"[gene] - ClinVar

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Items: 39

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2215549	NM_178827.5(IQUB):c.2368C>A (p.Pro790Thr)	IQUB (P790T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2266561	NM_178827.5(IQUB):c.2294A>T (p.Asp765Val)	IQUB (D765V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2303452	NM_178827.5(IQUB):c.2276C>T (p.Ala759Val)	IQUB (A759V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3110711	NM_178827.5(IQUB):c.2250C>A (p.Asn750Lys)	IQUB (N750K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3110710	NM_178827.5(IQUB):c.2207C>T (p.Ser736Leu)	IQUB (S736L)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2235014	NM_178827.5(IQUB):c.2069G>T (p.Cys690Phe)	IQUB (C690F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2293740	NM_178827.5(IQUB):c.1881C>G (p.Asn627Lys)	IQUB (N627K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2246205	NM_178827.5(IQUB):c.1862G>A (p.Arg621His)	IQUB (R621H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2396827	NM_178827.5(IQUB):c.1861C>T (p.Arg621Cys)	IQUB (R621C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2313239	NM_178827.5(IQUB):c.1630G>A (p.Glu544Lys)	IQUB (E544K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2479918	NM_178827.5(IQUB):c.1495C>A (p.Gln499Lys)	IQUB (Q499K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2344557	NM_178827.5(IQUB):c.1475C>T (p.Thr492Ile)	IQUB (T492I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3110708	NM_178827.5(IQUB):c.1436C>A (p.Thr479Asn)	IQUB (T479N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2359529	NM_178827.5(IQUB):c.1337C>T (p.Ala446Val)	IQUB (A446V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2494392	NM_178827.5(IQUB):c.1328A>T (p.Gln443Leu)	IQUB (Q443L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2358259	NM_178827.5(IQUB):c.1309C>T (p.Leu437Phe)	IQUB (L437F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2214227	NM_178827.5(IQUB):c.1259G>A (p.Arg420His)	IQUB (R420H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2510170	NM_178827.5(IQUB):c.1258C>T (p.Arg420Cys)	IQUB (R420C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2224108	NM_178827.5(IQUB):c.1178G>A (p.Arg393Gln)	IQUB (R393Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3110707	NM_178827.5(IQUB):c.1072G>A (p.Val358Ile)	IQUB (V358I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2560931	NM_178827.5(IQUB):c.1031T>A (p.Val344Glu)	IQUB (V344E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2535949	NM_178827.5(IQUB):c.1005T>G (p.His335Gln)	IQUB (H335Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3110717	NM_178827.5(IQUB):c.994G>T (p.Ala332Ser)	IQUB (A332S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3110716	NM_178827.5(IQUB):c.916A>G (p.Thr306Ala)	IQUB (T306A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3110715	NM_178827.5(IQUB):c.911C>T (p.Thr304Ile)	IQUB (T304I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3110714	NM_178827.5(IQUB):c.908C>A (p.Thr303Lys)	IQUB (T303K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2327844	NM_178827.5(IQUB):c.887A>G (p.Asn296Ser)	IQUB (N296S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2401407	NM_178827.5(IQUB):c.781A>G (p.Thr261Ala)	IQUB (T261A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2309694	NM_178827.5(IQUB):c.670A>G (p.Ile224Val)	IQUB (I224V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2604286	NM_178827.5(IQUB):c.525A>T (p.Arg175Ser)	IQUB (R175S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2278944	NM_178827.5(IQUB):c.433G>A (p.Val145Ile)	IQUB (V145I)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3110713	NM_178827.5(IQUB):c.284A>G (p.His95Arg)	IQUB (H95R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3110712	NM_178827.5(IQUB):c.275C>T (p.Pro92Leu)	IQUB (P92L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2589496	NM_178827.5(IQUB):c.238G>C (p.Glu80Gln)	IQUB (E80Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2546078	NM_178827.5(IQUB):c.235A>C (p.Met79Leu)	IQUB (M79L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2364051	NM_178827.5(IQUB):c.224A>G (p.Asn75Ser)	IQUB (N75S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2601242	NM_178827.5(IQUB):c.218C>G (p.Pro73Arg)	IQUB (P73R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2351874	NM_178827.5(IQUB):c.167A>G (p.His56Arg)	IQUB (H56R)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2404832	NM_178827.5(IQUB):c.64G>A (p.Asp22Asn)	IQUB (D22N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance

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Items: 39