"CeGaT Center for Human Genetics Tuebingen"[submitter] AND "MADD"[gene - ClinVar

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Items: 20

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2641760	NM_001376571.1(MADD):c.144G>A (p.Leu48=)	MADD	Single nucleotide variant (synonymous variant +3 more)	not provided	GLikely benign
Select item 1335068	NM_001376571.1(MADD):c.417C>G (p.Gly139=)	MADD	Single nucleotide variant (synonymous variant +2 more)	not provided +1 more	GLikely benign
Select item 2641761	NM_001376571.1(MADD):c.780C>T (p.Pro260=)	MADD	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 418287	NM_001376571.1(MADD):c.979C>T (p.Arg327Ter)	MADD (R327* +2 more)	Single nucleotide variant (nonsense +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 806671	NM_001376571.1(MADD):c.994C>T (p.Leu332Phe)	MADD (L264F +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 806672	NM_001376571.1(MADD):c.1037T>C (p.Leu346Pro)	MADD (L346P +2 more)	Single nucleotide variant (missense variant +1 more)	Neurodevelopmental disorder with dysmorphic facies, impaired speech, and hypotonia +2 more	GConflicting classifications of pathogenicity
Select item 2672464	NM_001376571.1(MADD):c.1113C>T (p.Thr371=)	MADD	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
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 782125	NM_001376571.1(MADD):c.1792A>G (p.Asn598Asp)	MADD (N598D +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 3024973	NM_001376571.1(MADD):c.1854T>G (p.Thr618=)	MADD	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1175794	NM_001376571.1(MADD):c.2096G>A (p.Arg699His)	MADD (R477H +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3025582	NM_001376571.1(MADD):c.2106T>G (p.Ser702=)	MADD	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3026028	NM_001376571.1(MADD):c.2241C>T (p.Gly747=)	MADD	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
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 2641762	NM_001376571.1(MADD):c.2955C>A (p.Arg985=)	MADD	Single nucleotide variant (synonymous variant +2 more)	not provided	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 493092	NM_001376571.1(MADD):c.3760-2A>C	MADD	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 424976	NM_001376571.1(MADD):c.4293G>A (p.Trp1431Ter)	MADD (W1431* +49 more)	Single nucleotide variant (nonsense +2 more)	not provided	GUncertain significance
Select item 2641764	NM_001376571.1(MADD):c.4383C>T (p.Cys1461=)	MADD	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2641765	NM_001376571.1(MADD):c.4932G>A (p.Pro1644=)	MADD	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign

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Items: 20