"Revvity Omics, Revvity"[submitter] AND "MADD"[gene] - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2433597	NM_001376571.1(MADD):c.671G>T (p.Trp224Leu)	MADD (W156L +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2433594	NM_001376571.1(MADD):c.774A>G (p.Pro258=)	MADD	Single nucleotide variant (synonymous variant +1 more)	not provided	GUncertain significance
Select item 2689390	NM_001376571.1(MADD):c.1778G>A (p.Arg593His)	MADD (R371H +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2433596	NM_001376571.1(MADD):c.1811C>G (p.Ala604Gly)	MADD (A382G +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2433593	NM_001376571.1(MADD):c.2123G>A (p.Ser708Asn)	MADD (S486N +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 872378	NM_001376571.1(MADD):c.2411G>A (p.Arg804Gln)	MADD (R804H +3 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2689389	NM_001376571.1(MADD):c.2458T>G (p.Ser820Ala)	MADD (S598A +7 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2433598	NM_001376571.1(MADD):c.3481G>A (p.Ala1161Thr)	MADD (A1030T +24 more)	Single nucleotide variant (missense variant +1 more)	MADD-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 2689388	NM_001376571.1(MADD):c.4223T>A (p.Val1408Glu)	MADD (V1127E +48 more)	Single nucleotide variant (non-coding transcript variant +2 more)	not provided	GUncertain significance
Select item 2433600	NM_001376571.1(MADD):c.4887G>T (p.Ser1629=)	MADD	Single nucleotide variant (synonymous variant +2 more)	MADD-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 2433599	NM_001376571.1(MADD):c.4952G>T (p.Ter1651Leu)	MADD	Single nucleotide variant (stop lost +2 more)	not provided	GUncertain significance