"MAMLD1-related disorder"[Disease/phenotype] AND "PreventionGenetics, - ClinVar - NCBI

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Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3042215	NM_005491.5(MAMLD1):c.171+7A>T	MAMLD1	Single nucleotide variant (intron variant)	MAMLD1-related disorder	GLikely benign
Select item 3041234	NM_005491.5(MAMLD1):c.171+10A>T	MAMLD1	Single nucleotide variant (intron variant)	MAMLD1-related disorder	GLikely benign
Select item 2629170	NM_005491.5(MAMLD1):c.1110G>A (p.Met370Ile)	MAMLD1 (M345I +1 more)	Single nucleotide variant (missense variant)	MAMLD1-related disorder	GUncertain significance
Select item 3050240	NM_005491.5(MAMLD1):c.1482GCA[10] (p.Gln502_Ala503insGlnGln)	MAMLD1	Microsatellite (inframe insertion +1 more)	MAMLD1-related disorder	GLikely benign
Select item 1674223	NM_005491.5(MAMLD1):c.1482GCA[9] (p.Gln502dup)	MAMLD1	Microsatellite (inframe_insertion)	not provided +1 more	GBenign/Likely benign
Select item 1169167	NM_005491.5(MAMLD1):c.1699C>T (p.Pro567Ser)	MAMLD1 (P542S +1 more)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign/Likely benign
Select item 769491	NM_005491.5(MAMLD1):c.1806_1814dup (p.Gln604_Gln606dup)	MAMLD1	Duplication (inframe_insertion)	MAMLD1-related disorder +1 more	GBenign/Likely benign
Select item 1685936	NM_005491.5(MAMLD1):c.1804C>A (p.Gln602Lys)	MAMLD1 (Q577K +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 3036241	NM_005491.5(MAMLD1):c.1837C>T (p.Leu613Phe)	MAMLD1 (L588F +1 more)	Single nucleotide variant (missense variant)	MAMLD1-related disorder	GLikely benign
Select item 745389	NM_005491.5(MAMLD1):c.1875G>A (p.Gln625=)	MAMLD1	Single nucleotide variant (synonymous variant)	MAMLD1-related disorder +1 more	GBenign/Likely benign
Select item 775471	NM_005491.5(MAMLD1):c.2220C>A (p.Gly740=)	MAMLD1	Single nucleotide variant (synonymous variant +1 more)	MAMLD1-related disorder +1 more	GBenign/Likely benign
Select item 2632139	NM_005491.5(MAMLD1):c.*381G>T	MAMLD1 (G755V +1 more)	Single nucleotide variant (missense variant +1 more)	MAMLD1-related disorder	GUncertain significance
Select item 3034290	NM_005491.5(MAMLD1):c.*614C>A	MAMLD1 (Q833K +1 more)	Single nucleotide variant (missense variant +1 more)	MAMLD1-related disorder	GBenign