CADM3-AS1[gene] - ClinVar - NCBI

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Items: 8

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155448	GRCh38/hg38 1q21.2-25.2(chr1:149854269-180267197)x3	LOC132088675, LOC132088682 +1585 more	Copy number gain	See cases	GPathogenic
Select item 58109	GRCh38/hg38 1q23.1-25.1(chr1:157747246-176021247)x3	ADAMTS4, ADCY10 +775 more	Copy number gain	See cases	GPathogenic
Select item 2376355	NM_001127173.3(CADM3):c.720C>A (p.Asp240Glu)	CADM3, CADM3-AS1 (D194E +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2490184	NM_001127173.3(CADM3):c.729T>A (p.His243Gln)	CADM3, CADM3-AS1 (H197Q +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2491373	NM_001127173.3(CADM3):c.991G>A (p.Ala331Thr)	CADM3-AS1, CADM3 (A365T +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1710197	NM_001127173.3(CADM3):c.1000G>T (p.Gly334Cys)	CADM3, CADM3-AS1 (G288C +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Charcot-Marie-Tooth disease, axonal, type 2FF	GUncertain significance
Select item 2439699	NM_001127173.3(CADM3):c.1061A>G (p.Tyr354Cys)	CADM3, CADM3-AS1 (Y308C +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Charcot-Marie-Tooth disease, axonal, type 2FF	GUncertain significance
Select item 2455939	NM_001127173.3(CADM3):c.1093C>A (p.His365Asn)	CADM3, CADM3-AS1 (H319N +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance