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

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Items: 21

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2279919	NM_002383.4(MAZ):c.274G>A (p.Ala92Thr)	MAZ (A92T +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	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)	Inborn genetic diseases	GUncertain significance
Select item 2611148	NM_002383.4(MAZ):c.1280-528C>A	MAZ, MVP-DT (T430K)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2263386	NM_002383.4(MAZ):c.1280-426C>T	MAZ, MVP-DT (P464L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2543201	NM_002383.4(MAZ):c.1280-385G>A	MAZ, MVP-DT (A478T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2404444	NM_002383.4(MAZ):c.1280-353G>C	MAZ, MVP-DT (Q488H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2404955	NM_002383.4(MAZ):c.1280-347G>C	MAZ, MVP-DT (Q490H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance

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Items: 21