IAH1[gene] and "single gene"[properties] - ClinVar

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Items: 20

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3107768	NM_001039613.3(IAH1):c.4G>A (p.Ala2Thr)	IAH1 (A2T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3107771	NM_001039613.3(IAH1):c.5C>T (p.Ala2Val)	IAH1 (A2V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2600907	NM_001039613.3(IAH1):c.94C>A (p.Gln32Lys)	IAH1 (Q32K +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2460863	NM_001039613.3(IAH1):c.95A>C (p.Gln32Pro)	IAH1 (Q32P +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2458362	NM_001039613.3(IAH1):c.154C>T (p.Arg52Cys)	IAH1 (R27C +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2221225	NM_001039613.3(IAH1):c.176C>T (p.Thr59Ile)	IAH1 (T59I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2352178	NM_001039613.3(IAH1):c.285T>A (p.Asp95Glu)	IAH1 (D70E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3285135	NM_001039613.3(IAH1):c.300G>T (p.Gln100His)	IAH1 (Q100H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2371793	NM_001039613.3(IAH1):c.322G>A (p.Ala108Thr)	IAH1 (A108T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2408657	NM_001039613.3(IAH1):c.395C>T (p.Thr132Met)	IAH1 (T19M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3107766	NM_001039613.3(IAH1):c.409T>C (p.Cys137Arg)	IAH1 (C137R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3107767	NM_001039613.3(IAH1):c.494C>A (p.Ala165Glu)	IAH1 (A140E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3285136	NM_001039613.3(IAH1):c.514G>A (p.Asp172Asn)	IAH1 (D172N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3107769	NM_001039613.3(IAH1):c.518G>C (p.Cys173Ser)	IAH1 (C173S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3107770	NM_001039613.3(IAH1):c.590G>T (p.Gly197Val)	IAH1 (G197V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2611508	NM_001039613.3(IAH1):c.595C>T (p.His199Tyr)	IAH1 (H199Y +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2538802	NM_001039613.3(IAH1):c.649G>A (p.Glu217Lys)	IAH1 (E104K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3107772	NM_001039613.3(IAH1):c.665C>T (p.Ser222Phe)	IAH1 (S197F +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2593555	NM_001039613.3(IAH1):c.712C>T (p.Pro238Ser)	IAH1 (P238S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2393402	NM_001039613.3(IAH1):c.725T>C (p.Leu242Pro)	IAH1 (L129P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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Items: 20