"Ambry Genetics"[submitter] AND "HAS1"[gene] - ClinVar

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Items: 54

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3104256	NM_001297436.2(HAS1):c.1715G>A (p.Gly572Asp)	HAS1 (G572D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2617483	NM_001297436.2(HAS1):c.1684G>A (p.Val562Met)	HAS1 (V562M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104255	NM_001297436.2(HAS1):c.1681G>A (p.Gly561Ser)	HAS1 (G561S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104254	NM_001297436.2(HAS1):c.1670T>C (p.Leu557Pro)	HAS1 (L557P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104253	NM_001297436.2(HAS1):c.1637C>A (p.Ala546Asp)	HAS1 (A547D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2325736	NM_001297436.2(HAS1):c.1634G>A (p.Gly545Asp)	HAS1 (G545D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2267762	NM_001297436.2(HAS1):c.1603G>A (p.Ala535Thr)	HAS1 (A535T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3283491	NM_001297436.2(HAS1):c.1586G>C (p.Ser529Thr)	HAS1 (S530T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2620423	NM_001297436.2(HAS1):c.1519C>T (p.Leu507Phe)	HAS1 (L507F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2216665	NM_001297436.2(HAS1):c.1513C>G (p.Leu505Val)	HAS1 (L505V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2368837	NM_001297436.2(HAS1):c.1484T>A (p.Leu495Gln)	HAS1 (L496Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2212675	NM_001297436.2(HAS1):c.1451A>G (p.Gln484Arg)	HAS1 (Q484R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2551109	NM_001297436.2(HAS1):c.1441A>C (p.Thr481Pro)	HAS1 (T481P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2390371	NM_001297436.2(HAS1):c.1409G>A (p.Gly470Asp)	HAS1 (G470D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104252	NM_001297436.2(HAS1):c.1396C>T (p.Leu466Phe)	HAS1 (L466F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104251	NM_001297436.2(HAS1):c.1369A>C (p.Met457Leu)	HAS1 (M457L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2250802	NM_001297436.2(HAS1):c.1362C>G (p.Cys454Trp)	HAS1 (C454W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104250	NM_001297436.2(HAS1):c.1354C>T (p.Arg452Trp)	HAS1 (R452W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3283496	NM_001297436.2(HAS1):c.1308C>G (p.Cys436Trp)	HAS1 (C437W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104249	NM_001297436.2(HAS1):c.1295G>C (p.Trp432Ser)	HAS1 (W433S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3283493	NM_001297436.2(HAS1):c.1249A>G (p.Thr417Ala)	HAS1 (T418A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3283489	NM_001297436.2(HAS1):c.1059G>A (p.Lys353=)	HAS1	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3283488	NM_001297436.2(HAS1):c.1051G>A (p.Ala351Thr)	HAS1 (A351T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2403738	NM_001297436.2(HAS1):c.1044G>A (p.Met348Ile)	HAS1 (M348I +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2323087	NM_001297436.2(HAS1):c.1040G>C (p.Ser347Thr)	HAS1 (S348T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2606528	NM_001297436.2(HAS1):c.1031G>T (p.Arg344Leu)	HAS1 (R344L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2213653	NM_001297436.2(HAS1):c.1021C>A (p.Leu341Ile)	HAS1 (L342I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2365435	NM_001297436.2(HAS1):c.969G>T (p.Trp323Cys)	HAS1 (W323C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2485927	NM_001297436.2(HAS1):c.934A>G (p.Arg312Gly)	HAS1 (R312G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2219406	NM_001297436.2(HAS1):c.889T>C (p.Tyr297His)	HAS1 (Y297H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2345551	NM_001297436.2(HAS1):c.800G>A (p.Arg267Gln)	HAS1 (R267Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2545675	NM_001297436.2(HAS1):c.775G>A (p.Val259Ile)	HAS1 (V259I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104261	NM_001297436.2(HAS1):c.772C>T (p.Arg258Trp)	HAS1 (R258W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104260	NM_001297436.2(HAS1):c.748G>A (p.Val250Met)	HAS1 (V251M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104259	NM_001297436.2(HAS1):c.710C>T (p.Ser237Leu)	HAS1 (S238L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2457870	NM_001297436.2(HAS1):c.668A>G (p.Lys223Arg)	HAS1 (K224R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2360542	NM_001297436.2(HAS1):c.662C>A (p.Ala221Asp)	HAS1 (A221D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2407365	NM_001297436.2(HAS1):c.653T>C (p.Met218Thr)	HAS1 (M218T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2208259	NM_001297436.2(HAS1):c.493T>A (p.Tyr165Asn)	HAS1 (Y165N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3283492	NM_001297436.2(HAS1):c.443G>A (p.Arg148His)	HAS1 (R149H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104258	NM_001297436.2(HAS1):c.443G>T (p.Arg148Leu)	HAS1 (R148L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2325863	NM_001297436.2(HAS1):c.409C>A (p.Arg137Ser)	HAS1 (R138S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2542356	NM_001297436.2(HAS1):c.383G>T (p.Arg128Leu)	HAS1 (R129L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2482183	NM_001297436.2(HAS1):c.338G>T (p.Cys113Phe)	HAS1 (C114F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104257	NM_001297436.2(HAS1):c.320C>T (p.Pro107Leu)	HAS1 (P107L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3283494	NM_001297436.2(HAS1):c.296C>T (p.Thr99Ile)	HAS1 (T100I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3283490	NM_001297436.2(HAS1):c.251C>T (p.Ala84Val)	HAS1 (A85V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2208835	NM_001297436.2(HAS1):c.248C>T (p.Ala83Val)	HAS1 (A84V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2377959	NM_001297436.2(HAS1):c.193C>A (p.His65Asn)	HAS1 (H66N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2235060	NM_001297436.2(HAS1):c.158T>G (p.Leu53Arg)	HAS1 (L53R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2531444	NM_001297436.2(HAS1):c.116A>G (p.Tyr39Cys)	HAS1 (Y39C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2469463	NM_001297436.2(HAS1):c.92T>G (p.Ile31Ser)	HAS1 (I31S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2527286	NM_001297436.2(HAS1):c.43T>G (p.Cys15Gly)	HAS1 (C16G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2255955	NM_001297436.2(HAS1):c.38G>A (p.Cys13Tyr)	HAS1 (C13Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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Items: 54