Related gene-specific medical variations for Gene (Select 256691) - ClinVar - NCBI

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Items: 17

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3292743	NM_153267.5(MAMDC2):c.1667T>C (p.Ile556Thr)	MAMDC2, SMC5-DT (I556T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3292742	NM_153267.5(MAMDC2):c.1652G>A (p.Gly551Asp)	MAMDC2, SMC5-DT (G551D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3122337	NM_153267.5(MAMDC2):c.1943T>C (p.Ile648Thr)	MAMDC2, SMC5-DT (I648T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3122336	NM_153267.5(MAMDC2):c.1474C>G (p.Gln492Glu)	MAMDC2, MAMDC2-AS1 (Q492E)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2684579	GRCh37/hg19 9q21.12(chr9:72536236-72776761)x3	MAMDC2	Copy number gain	not provided	GUncertain significance
Select item 2465533	NM_153267.5(MAMDC2):c.1702C>T (p.Arg568Cys)	MAMDC2, SMC5-DT (R568C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2383437	NM_153267.5(MAMDC2):c.1721T>C (p.Leu574Pro)	MAMDC2, SMC5-DT (L574P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2376875	NM_153267.5(MAMDC2):c.2000T>C (p.Met667Thr)	MAMDC2, SMC5-DT (M667T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2334559	NM_153267.5(MAMDC2):c.1635T>A (p.Asp545Glu)	MAMDC2, MAMDC2-AS1 (D545E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2284417	NM_153267.5(MAMDC2):c.1574G>A (p.Arg525Gln)	MAMDC2, MAMDC2-AS1 (R525Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2234686	NM_153267.5(MAMDC2):c.2009C>G (p.Thr670Arg)	MAMDC2, SMC5-DT (T670R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2212651	NM_153267.5(MAMDC2):c.1511C>T (p.Pro504Leu)	MAMDC2, MAMDC2-AS1 (P504L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 779927	NM_153267.5(MAMDC2):c.1581C>T (p.Ser527=)	MAMDC2, MAMDC2-AS1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 778429	NM_153267.5(MAMDC2):c.1937T>C (p.Val646Ala)	MAMDC2, SMC5-DT (V646A)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 778428	NM_153267.5(MAMDC2):c.1455C>A (p.Ala485=)	MAMDC2, MAMDC2-AS1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 713716	NM_153267.5(MAMDC2):c.1874G>A (p.Arg625Gln)	MAMDC2, SMC5-DT (R625Q)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 161822	NM_153267.5(MAMDC2):c.58G>A (p.Asp20Asn)	MAMDC2 (D20N)	Single nucleotide variant (missense variant +1 more)	Malignant tumor of prostate	GUncertain significance