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

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Items: 39

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3124008	NM_002383.4(MAZ):c.34C>T (p.Pro12Ser)	MAZ (P12S)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3293493	NM_002383.4(MAZ):c.38C>A (p.Pro13His)	MAZ (P13H)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3124015	NM_002383.4(MAZ):c.65G>A (p.Arg22Gln)	MAZ (R22Q)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2279919	NM_002383.4(MAZ):c.274G>A (p.Ala92Thr)	MAZ (A92T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2487572	NM_002383.4(MAZ):c.286G>A (p.Ala96Thr)	MAZ (A96T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2275655	NM_002383.4(MAZ):c.302C>T (p.Ala101Val)	MAZ (A101V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3124007	NM_002383.4(MAZ):c.304G>A (p.Ala102Thr)	MAZ (A79T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3293492	NM_002383.4(MAZ):c.328G>A (p.Ala110Thr)	MAZ (A87T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2558617	NM_002383.4(MAZ):c.350C>T (p.Ala117Val)	MAZ (A117V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2482202	NM_002383.4(MAZ):c.358T>G (p.Ser120Ala)	MAZ (S97A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3293494	NM_002383.4(MAZ):c.436G>A (p.Glu146Lys)	MAZ (E146K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2221793	NM_002383.4(MAZ):c.440C>T (p.Ala147Val)	MAZ (A147V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3124010	NM_002383.4(MAZ):c.442G>T (p.Ala148Ser)	MAZ (A125S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3124009	NM_002383.4(MAZ):c.442G>A (p.Ala148Thr)	MAZ (A125T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3124011	NM_002383.4(MAZ):c.443C>T (p.Ala148Val)	MAZ (A125V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2569386	NM_002383.4(MAZ):c.452C>T (p.Ala151Val)	MAZ (A151V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3293496	NM_002383.4(MAZ):c.476C>T (p.Ala159Val)	MAZ (A159V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2232051	NM_002383.4(MAZ):c.484A>C (p.Thr162Pro)	MAZ (T139P +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3293495	NM_002383.4(MAZ):c.497C>T (p.Ala166Val)	MAZ (A166V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2395999	NM_002383.4(MAZ):c.503C>T (p.Thr168Ile)	MAZ (T145I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3124012	NM_002383.4(MAZ):c.524C>G (p.Pro175Arg)	MAZ (P152R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2405835	NM_002383.4(MAZ):c.532T>G (p.Ser178Ala)	MAZ (S178A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2405836	NM_002383.4(MAZ):c.533C>G (p.Ser178Cys)	MAZ (S155C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2406735	NM_002383.4(MAZ):c.536C>G (p.Ala179Gly)	MAZ (A179G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2394501	NM_002383.4(MAZ):c.538T>G (p.Leu180Val)	MAZ (L157V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3124013	NM_002383.4(MAZ):c.565C>T (p.Pro189Ser)	LOC130058786, MAZ (P189S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3293497	NM_002383.4(MAZ):c.571A>G (p.Ile191Val)	LOC130058786, MAZ (I191V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2292920	NM_002383.4(MAZ):c.577G>A (p.Ala193Thr)	LOC130058786, MAZ (A193T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2517528	NM_002383.4(MAZ):c.629C>G (p.Ala210Gly)	LOC130058786, MAZ (A210G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3124016	NM_002383.4(MAZ):c.757G>C (p.Ala253Pro)	LOC130058786, MAZ (A230P +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3293498	NM_002383.4(MAZ):c.1012A>C (p.Asn338His)	LOC130058786, MAZ (N315H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2603188	NM_002383.4(MAZ):c.1100A>G (p.Lys367Arg)	LOC130058787, MAZ (K344R +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2611148	NM_002383.4(MAZ):c.1280-528C>A	MAZ, MVP-DT (T430K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3124005	NM_002383.4(MAZ):c.1280-474G>A	MAZ, MVP-DT (R448Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2263386	NM_002383.4(MAZ):c.1280-426C>T	MAZ, MVP-DT (P464L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2543201	NM_002383.4(MAZ):c.1280-385G>A	MAZ, MVP-DT (A478T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3124006	NM_002383.4(MAZ):c.1280-357C>T	MAZ, MVP-DT (P487L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2404444	NM_002383.4(MAZ):c.1280-353G>C	MAZ, MVP-DT (Q488H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2404955	NM_002383.4(MAZ):c.1280-347G>C	MAZ, MVP-DT (Q490H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance

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Items: 39