DENR[gene] and "single gene"[properties] - ClinVar - NCBI

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Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3045398	NM_003677.5(DENR):c.-2A>C	DENR	Single nucleotide variant (5 prime UTR variant)	DENR-related disorder	GLikely benign
Select item 2211353	NM_003677.5(DENR):c.49C>T (p.Pro17Ser)	DENR (P17S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2211368	NM_003677.5(DENR):c.62C>T (p.Ala21Val)	DENR (A21V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3044403	NM_003677.5(DENR):c.65A>C (p.Lys22Thr)	DENR (K22T)	Single nucleotide variant (missense variant)	DENR-related disorder	GLikely benign
Select item 2358077	NM_003677.5(DENR):c.76G>T (p.Asp26Tyr)	DENR (D26Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2482791	NM_003677.5(DENR):c.95T>C (p.Leu32Pro)	DENR (L32P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 797357	NM_003677.5(DENR):c.107-9C>T	DENR	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2362581	NM_003677.5(DENR):c.202C>T (p.Leu68Phe)	DENR (L68F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3051717	NM_003677.5(DENR):c.264G>A (p.Gly88=)	DENR	Single nucleotide variant (synonymous variant)	DENR-related disorder	GLikely benign
Select item 2532213	NM_003677.5(DENR):c.267A>C (p.Glu89Asp)	DENR (E89D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3039206	NM_003677.5(DENR):c.295+6A>T	DENR	Single nucleotide variant (intron variant)	DENR-related disorder	GLikely benign
Select item 3054550	NM_003677.5(DENR):c.330C>G (p.Thr110=)	DENR	Single nucleotide variant (synonymous variant)	DENR-related disorder	GLikely benign
Select item 2327007	NM_003677.5(DENR):c.331G>A (p.Val111Ile)	DENR (V111I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance