"Ambry Genetics"[submitter] AND "MAMLD1"[gene] - ClinVar

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Items: 26

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2209150	NM_005491.5(MAMLD1):c.57G>A (p.Met19Ile)	MAMLD1 (M19I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3292792	NM_005491.5(MAMLD1):c.222G>A (p.Met74Ile)	MAMLD1 (M49I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2514890	NM_005491.5(MAMLD1):c.406A>T (p.Met136Leu)	MAMLD1 (M111L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3292789	NM_005491.5(MAMLD1):c.428C>T (p.Ser143Leu)	MAMLD1 (S118L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3122435	NM_005491.5(MAMLD1):c.451A>G (p.Thr151Ala)	MAMLD1 (T151A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3122436	NM_005491.5(MAMLD1):c.461G>T (p.Gly154Val)	MAMLD1 (G129V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2202024	NM_005491.5(MAMLD1):c.509C>T (p.Pro170Leu)	MAMLD1 (P145L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 3025696	NM_005491.5(MAMLD1):c.874G>A (p.Ala292Thr)	MAMLD1 (A267T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 2489536	NM_005491.5(MAMLD1):c.932C>T (p.Ala311Val)	MAMLD1 (A286V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3122437	NM_005491.5(MAMLD1):c.965A>G (p.Gln322Arg)	MAMLD1 (Q322R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2309443	NM_005491.5(MAMLD1):c.1021C>T (p.Arg341Cys)	MAMLD1 (R316C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3292788	NM_005491.5(MAMLD1):c.1112C>T (p.Ser371Leu)	MAMLD1 (S346L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3122431	NM_005491.5(MAMLD1):c.1148C>T (p.Ser383Phe)	MAMLD1 (S358F +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3292790	NM_005491.5(MAMLD1):c.1154A>G (p.Asn385Ser)	MAMLD1 (N360S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2335087	NM_005491.5(MAMLD1):c.1169G>T (p.Ser390Ile)	MAMLD1 (S365I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3292787	NM_005491.5(MAMLD1):c.1204G>A (p.Ala402Thr)	MAMLD1 (A377T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2618719	NM_005491.5(MAMLD1):c.1375C>T (p.Arg459Cys)	MAMLD1 (R434C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2608429	NM_005491.5(MAMLD1):c.1630C>G (p.Pro544Ala)	MAMLD1 (P544A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2544559	NM_005491.5(MAMLD1):c.1655C>T (p.Pro552Leu)	MAMLD1 (P552L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2287804	NM_005491.5(MAMLD1):c.1766C>T (p.Thr589Met)	MAMLD1 (T589M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2466313	NM_005491.5(MAMLD1):c.1808A>G (p.Gln603Arg)	MAMLD1 (Q578R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2531634	NM_005491.5(MAMLD1):c.1817A>C (p.Gln606Pro)	MAMLD1 (Q606P +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2277722	NM_005491.5(MAMLD1):c.1868G>A (p.Arg623His)	MAMLD1 (R598H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3292791	NM_005491.5(MAMLD1):c.1958C>T (p.Ser653Leu)	MAMLD1 (S653L +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3122433	NM_005491.5(MAMLD1):c.2102G>A (p.Arg701Gln)	MAMLD1 (R635Q +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3122434	NM_005491.5(MAMLD1):c.2227G>A (p.Asp743Asn)	MAMLD1 (D677N +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance

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Items: 26