"Ambry Genetics"[submitter] AND "AZIN1"[gene] - ClinVar - NCBI

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Items: 8

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2472201	NM_148174.4(AZIN1):c.1171G>C (p.Glu391Gln)	AZIN1 (E390Q +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2215743	NM_148174.4(AZIN1):c.1025A>G (p.Tyr342Cys)	AZIN1 (Y175C +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2360839	NM_148174.4(AZIN1):c.978T>G (p.Ser326Arg)	AZIN1 (S325R +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2342842	NM_148174.4(AZIN1):c.923A>G (p.Asp308Gly)	AZIN1 (D141G +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2260590	NM_148174.4(AZIN1):c.545A>G (p.Glu182Gly)	AZIN1 (E182G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2402287	NM_148174.4(AZIN1):c.331A>G (p.Ile111Val)	AZIN1 (I111V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2327533	NM_148174.4(AZIN1):c.320A>G (p.Asn107Ser)	AZIN1 (N107S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2300436	NM_148174.4(AZIN1):c.104C>T (p.Thr35Ile)	AZIN1 (T35I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance