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

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 16

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2327644	NM_032858.3(MAEL):c.10C>T (p.Arg4Cys)	LOC126805904, MAEL (R4C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3122017	NM_032858.3(MAEL):c.58C>G (p.Pro20Ala)	LOC126805904, MAEL (P20A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2538640	NM_032858.3(MAEL):c.146A>G (p.Glu49Gly)	LOC126805904, MAEL (E49G)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3122015	NM_032858.3(MAEL):c.175C>G (p.Arg59Gly)	LOC126805904, MAEL (R3G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2554576	NM_032858.3(MAEL):c.275A>G (p.Gln92Arg)	MAEL (Q61R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2274660	NM_032858.3(MAEL):c.287C>T (p.Pro96Leu)	MAEL (P96L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3122016	NM_032858.3(MAEL):c.373G>A (p.Glu125Lys)	MAEL (E125K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2462590	NM_032858.3(MAEL):c.494G>A (p.Arg165Gln)	MAEL (R109Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2553537	NM_032858.3(MAEL):c.553A>C (p.Asn185His)	MAEL (N129H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3122018	NM_032858.3(MAEL):c.617A>T (p.Asn206Ile)	MAEL (N206I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3122019	NM_032858.3(MAEL):c.763C>A (p.Gln255Lys)	MAEL (Q224K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3122020	NM_032858.3(MAEL):c.872T>C (p.Ile291Thr)	MAEL (I235T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2273326	NM_032858.3(MAEL):c.951G>C (p.Gln317His)	MAEL (Q286H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3122022	NM_032858.3(MAEL):c.971C>T (p.Pro324Leu)	MAEL (P324L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2476276	NM_032858.3(MAEL):c.1108A>G (p.Thr370Ala)	MAEL (T339A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2400851	NM_032858.3(MAEL):c.1205A>G (p.Asn402Ser)	MAEL (N346S +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign