ClinVar for MedGen (Select 1756624) - ClinVar

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Items: 28

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3376383	NM_001376571.1(MADD):c.3086C>T (p.Ala1029Val)	MADD (A1000V +15 more)	Single nucleotide variant (missense variant +2 more)	Deeah syndrome	GUncertain significance
Select item 3348287	NM_001376571.1(MADD):c.2591C>A (p.Ser864Ter)	MADD (S642* +7 more)	Single nucleotide variant (nonsense +2 more)	Deeah syndrome	GLikely pathogenic
Select item 3065471	NM_001376571.1(MADD):c.1967A>G (p.Asn656Ser)	MADD (N434S +2 more)	Single nucleotide variant (missense variant +2 more)	Deeah syndrome	GLikely pathogenic
Select item 3065470	NM_001376571.1(MADD):c.1966A>T (p.Asn656Tyr)	MADD (N434Y +3 more)	Single nucleotide variant (missense variant +1 more)	Deeah syndrome	GUncertain significance
Select item 3065452	NM_001376571.1(MADD):c.63-2A>G	MADD	Single nucleotide variant (splice acceptor variant +1 more)	Deeah syndrome	GLikely pathogenic
Select item 2599536	NM_001376571.1(MADD):c.2851A>G (p.Ser951Gly)	MADD (S899G +15 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 2590510	NM_001376571.1(MADD):c.3477C>G (p.Ile1159Met)	MADD (I1044M +24 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2345004	NM_001376571.1(MADD):c.2996C>T (p.Pro999Leu)	MADD (P868L +15 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 1802277	NM_001376571.1(MADD):c.3704G>A (p.Arg1235Gln)	MADD (R1024Q +41 more)	Single nucleotide variant (missense variant +2 more)	Neurodevelopmental disorder with dysmorphic facies, impaired speech, and hypotonia +1 more	GUncertain significance
Select item 1701715	NM_001376571.1(MADD):c.2260C>T (p.Arg754Cys)	MADD (R532C +3 more)	Single nucleotide variant (missense variant +1 more)	Neurodevelopmental disorder with dysmorphic facies, impaired speech, and hypotonia +1 more	GUncertain significance
Select item 1701714	NM_001376571.1(MADD):c.1943G>T (p.Cys648Phe)	MADD (C426F +2 more)	Single nucleotide variant (missense variant +1 more)	MADD-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 1683541	NM_001376571.1(MADD):c.2903G>A (p.Arg968Gln)	MADD (R726Q +15 more)	Single nucleotide variant (missense variant +2 more)	Neurodevelopmental disorder with dysmorphic facies, impaired speech, and hypotonia +1 more	GUncertain significance
Select item 1683540	NM_001376571.1(MADD):c.1469+14G>A	MADD	Single nucleotide variant (intron variant)	Neurodevelopmental disorder with dysmorphic facies, impaired speech, and hypotonia +1 more	GUncertain significance
Select item 1334762	NM_001376571.1(MADD):c.310C>T (p.Arg104Ter)	MADD (R104* +1 more)	Single nucleotide variant (nonsense +2 more)	Deeah syndrome	GLikely pathogenic
Select item 1334664	NM_001376571.1(MADD):c.1291-2A>G	MADD	Single nucleotide variant (splice acceptor variant)	Deeah syndrome +1 more	GLikely pathogenic
Select item 1334389	NM_001376571.1(MADD):c.2383C>T (p.Arg795Ter)	MADD (R573* +2 more)	Single nucleotide variant (nonsense +2 more)	Deeah syndrome	GLikely pathogenic
Select item 1321157	NM_001376571.1(MADD):c.2294G>A (p.Arg765Gln)	MADD (R543Q +2 more)	Single nucleotide variant (missense variant +2 more)	not provided +2 more	GBenign
Select item 1321156	NM_001376571.1(MADD):c.1440T>C (p.Asn480=)	MADD	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GBenign
Select item 1243998	NM_001376571.1(MADD):c.1041G>A (p.Glu347=)	MADD	Single nucleotide variant (synonymous variant +1 more)	Deeah syndrome +2 more	GBenign
Select item 1199417	NM_001376571.1(MADD):c.3070C>T (p.Gln1024Ter)	MADD (Q1004* +15 more)	Single nucleotide variant (nonsense +2 more)	Deeah syndrome	GLikely pathogenic
Select item 978086	NM_001376571.1(MADD):c.770C>T (p.Ser257Phe)	MADD (S257F +2 more)	Single nucleotide variant (missense variant +1 more)	Deeah syndrome	GPathogenic
Select item 978085	NM_001376571.1(MADD):c.963+1G>A	MADD	Single nucleotide variant (splice donor variant)	Deeah syndrome	GPathogenic
Select item 978084	NM_003682.4:c.(1862+1_1863-1)_(3759+1_3760-1)del	MADD	Deletion	Deeah syndrome	GPathogenic
Select item 978083	NM_001376571.1(MADD):c.914G>T (p.Gly305Val)	MADD (G305V +2 more)	Single nucleotide variant (missense variant +1 more)	Deeah syndrome	GPathogenic
Select item 978040	NM_001376571.1(MADD):c.1115C>T (p.Pro372Leu)	MADD (P150L +2 more)	Single nucleotide variant (missense variant +1 more)	MADD-related disorder +1 more	GUncertain significance
Select item 973492	NM_001376571.1(MADD):c.2816+1G>A	MADD	Single nucleotide variant (splice donor variant +1 more)	Deeah syndrome	GPathogenic
Select item 806672	NM_001376571.1(MADD):c.1037T>C (p.Leu346Pro)	MADD (L346P +2 more)	Single nucleotide variant (missense variant +1 more)	Deeah syndrome +2 more	GConflicting classifications of pathogenicity
Select item 720869	NM_001376571.1(MADD):c.1330A>G (p.Asn444Asp)	MADD (N444D +2 more)	Single nucleotide variant (missense variant +1 more)	Deeah syndrome +2 more	GBenign/Likely benign

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Items: 28