"Ambry Genetics"[submitter] AND "AHSA1"[gene] - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3102343	NM_012111.3(AHSA1):c.100A>C (p.Asn34His)	AHSA1 (N34H)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2617535	NM_012111.3(AHSA1):c.275C>T (p.Thr92Ile)	AHSA1 (T92I)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2477401	NM_012111.3(AHSA1):c.286G>A (p.Gly96Arg)	AHSA1 (G96R)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2232098	NM_012111.3(AHSA1):c.286G>C (p.Gly96Arg)	AHSA1 (G96R)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2622480	NM_012111.3(AHSA1):c.641C>A (p.Thr214Asn)	AHSA1 (T79N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3102361	NM_012111.3(AHSA1):c.661G>A (p.Glu221Lys)	AHSA1 (E221K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2591092	NM_012111.3(AHSA1):c.694G>T (p.Val232Leu)	AHSA1 (V97L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2320054	NM_012111.3(AHSA1):c.805C>T (p.His269Tyr)	AHSA1 (H134Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2326682	NM_012111.3(AHSA1):c.949C>G (p.Gln317Glu)	AHSA1 (Q317E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2490211	NM_012111.3(AHSA1):c.961C>T (p.Arg321Trp)	AHSA1 (R186W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3102373	NM_012111.3(AHSA1):c.988A>T (p.Thr330Ser)	AHSA1 (T330S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance