"PreventionGenetics, part of Exact Sciences"[submitter] AND "MADD"[gen - ClinVar

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Items: 27

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 709997	NM_001376571.1(MADD):c.131C>A (p.Thr44Asn)	MADD (T44N)	Single nucleotide variant (missense variant +3 more)	not provided +1 more	GBenign
Select item 2630010	NM_001376571.1(MADD):c.382T>C (p.Ser128Pro)	MADD (S128P +1 more)	Single nucleotide variant (missense variant +2 more)	MADD-related disorder	GUncertain significance
Select item 1335068	NM_001376571.1(MADD):c.417C>G (p.Gly139=)	MADD	Single nucleotide variant (synonymous variant +2 more)	MADD-related disorder +1 more	GLikely benign
Select item 779197	NM_001376571.1(MADD):c.482G>A (p.Arg161His)	MADD (R93H +1 more)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GBenign
Select item 2630124	NM_001376571.1(MADD):c.568C>T (p.Arg190Ter)	MADD (R122* +1 more)	Single nucleotide variant (nonsense +2 more)	MADD-related disorder	GLikely pathogenic
Select item 3048455	NM_001376571.1(MADD):c.975G>A (p.Gln325=)	MADD	Single nucleotide variant (synonymous variant +1 more)	MADD-related disorder	GLikely benign
Select item 418287	NM_001376571.1(MADD):c.979C>T (p.Arg327Ter)	MADD (R327* +2 more)	Single nucleotide variant (nonsense +1 more)	MADD-related disorder +1 more	GPathogenic/Likely pathogenic
Select item 3055675	NM_001376571.1(MADD):c.1083A>G (p.Ala361=)	MADD	Single nucleotide variant (synonymous variant +1 more)	MADD-related disorder	GBenign
Select item 3034323	NM_001376571.1(MADD):c.1257A>G (p.Pro419=)	MADD	Single nucleotide variant (synonymous variant +1 more)	MADD-related disorder	GLikely benign
Select item 768445	NM_001376571.1(MADD):c.1290+3A>G	MADD	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 720869	NM_001376571.1(MADD):c.1330A>G (p.Asn444Asp)	MADD (N444D +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GBenign/Likely benign
Select item 723531	NM_001376571.1(MADD):c.1806T>A (p.Ala602=)	MADD	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 1701714	NM_001376571.1(MADD):c.1943G>T (p.Cys648Phe)	MADD (C426F +2 more)	Single nucleotide variant (missense variant +1 more)	Deeah syndrome +2 more	GUncertain significance
Select item 1321157	NM_001376571.1(MADD):c.2294G>A (p.Arg765Gln)	MADD (R543Q +2 more)	Single nucleotide variant (missense variant +2 more)	MADD-related disorder +2 more	GBenign
Select item 3037635	NM_001376571.1(MADD):c.2296C>T (p.Arg766Ter)	MADD (R544* +2 more)	Single nucleotide variant (nonsense +2 more)	MADD-related disorder	GBenign
Select item 2629854	NM_001376571.1(MADD):c.2486G>A (p.Ser829Asn)	MADD (S607N +7 more)	Single nucleotide variant (missense variant +1 more)	MADD-related disorder	GUncertain significance
Select item 3043351	NM_001376571.1(MADD):c.2502C>T (p.Thr834=)	MADD	Single nucleotide variant (synonymous variant +1 more)	MADD-related disorder	GLikely benign
Select item 3040014	NM_001376571.1(MADD):c.2700C>T (p.Pro900=)	MADD	Single nucleotide variant (synonymous variant +2 more)	MADD-related disorder	GLikely benign
Select item 3042129	NM_001376571.1(MADD):c.2754T>C (p.Ile918=)	MADD	Single nucleotide variant (synonymous variant +2 more)	MADD-related disorder	GBenign
Select item 3052343	NM_001376571.1(MADD):c.2938C>T (p.Leu980=)	MADD	Single nucleotide variant (synonymous variant +2 more)	MADD-related disorder	GLikely benign
Select item 2641763	NM_001376571.1(MADD):c.3084C>T (p.His1028=)	MADD	Single nucleotide variant (synonymous variant +2 more)	not provided +1 more	GLikely benign
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 3035592	NM_001376571.1(MADD):c.3760-6C>T	MADD	Single nucleotide variant (intron variant)	MADD-related disorder	GLikely benign
Select item 3035648	NM_001376571.1(MADD):c.4413C>T (p.Ile1471=)	MADD	Single nucleotide variant (synonymous variant +1 more)	MADD-related disorder	GLikely benign
Select item 3058141	NM_001376571.1(MADD):c.4440C>T (p.Tyr1480=)	MADD	Single nucleotide variant (synonymous variant +1 more)	MADD-related disorder	GLikely benign
Select item 3053204	NM_001376571.1(MADD):c.4849-7C>T	MADD	Single nucleotide variant (intron variant)	MADD-related disorder	GLikely benign
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

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Items: 27