"Ambry Genetics"[submitter] AND "EIF1B-AS1"[gene] - ClinVar

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Items: 25

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2323305	NM_015460.4(MYRIP):c.920C>G (p.Thr307Ser)	EIF1B-AS1, MYRIP (T218S +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2349669	NM_015460.4(MYRIP):c.1123G>A (p.Gly375Arg)	MYRIP, EIF1B-AS1 (G286R +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2363524	NM_015460.4(MYRIP):c.1186G>A (p.Asp396Asn)	MYRIP, EIF1B-AS1 (D209N +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2267092	NM_015460.4(MYRIP):c.1234C>A (p.Pro412Thr)	MYRIP, EIF1B-AS1 (P412T +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2491142	NM_015460.4(MYRIP):c.1304C>G (p.Pro435Arg)	EIF1B-AS1, MYRIP (P248R +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2458463	NM_015460.4(MYRIP):c.1399G>A (p.Gly467Arg)	EIF1B-AS1, MYRIP (G280R +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2514409	NM_015460.4(MYRIP):c.1463T>C (p.Met488Thr)	EIF1B-AS1, MYRIP (M301T +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2281623	NM_015460.4(MYRIP):c.1520C>A (p.Thr507Asn)	EIF1B-AS1, MYRIP (T507N +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2469911	NM_015460.4(MYRIP):c.1523C>T (p.Ser508Leu)	MYRIP, EIF1B-AS1 (S321L +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2346700	NM_015460.4(MYRIP):c.1525G>A (p.Asp509Asn)	EIF1B-AS1, MYRIP (D420N +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2333128	NM_015460.4(MYRIP):c.1567C>T (p.Arg523Trp)	EIF1B-AS1, MYRIP (R434W +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2233922	NM_015460.4(MYRIP):c.1613G>A (p.Ser538Asn)	MYRIP, EIF1B-AS1 (S351N +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2365195	NM_015460.4(MYRIP):c.1635C>A (p.Ser545Arg)	MYRIP, EIF1B-AS1 (S456R +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2206054	NM_015460.4(MYRIP):c.1670C>T (p.Ser557Leu)	MYRIP, EIF1B-AS1 (S370L +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2462097	NM_015460.4(MYRIP):c.1697G>A (p.Ser566Asn)	EIF1B-AS1, MYRIP (S477N +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2390913	NM_015460.4(MYRIP):c.1709G>A (p.Arg570Gln)	EIF1B-AS1, MYRIP (R383Q +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2228799	NM_015460.4(MYRIP):c.1871A>G (p.Asp624Gly)	EIF1B-AS1, MYRIP (D535G +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2609190	NM_015460.4(MYRIP):c.1909T>C (p.Phe637Leu)	EIF1B-AS1, MYRIP (F637L +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2208457	NM_015460.4(MYRIP):c.2228C>T (p.Thr743Met)	MYRIP, EIF1B-AS1 (T678M +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2333239	NM_015460.4(MYRIP):c.2300T>C (p.Ile767Thr)	EIF1B-AS1, MYRIP (I580T +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2523639	NM_015460.4(MYRIP):c.2329C>T (p.Arg777Cys)	EIF1B-AS1, MYRIP (R590C +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2345557	NM_015460.4(MYRIP):c.2459C>T (p.Thr820Ile)	MYRIP, EIF1B-AS1 (T633I +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2300117	NM_015460.4(MYRIP):c.2465A>C (p.Lys822Thr)	MYRIP, EIF1B-AS1 (K757T +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2385594	NM_015460.4(MYRIP):c.2488C>T (p.Leu830Phe)	EIF1B-AS1, MYRIP (L741F +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2344000	NM_015460.4(MYRIP):c.2576A>G (p.Tyr859Cys)	EIF1B-AS1, MYRIP (Y672C +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance

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Items: 25