"Ambry Genetics"[submitter] AND "LOC130007814"[gene] - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2532284	NM_015086.2(DDN):c.676C>T (p.Pro226Ser)	DDN, LOC130007814 (P226S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2341873	NM_015086.2(DDN):c.616C>T (p.His206Tyr)	LOC130007814, DDN (H206Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3080789	NM_015086.2(DDN):c.554C>T (p.Pro185Leu)	DDN, LOC130007814 (P185L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2592986	NM_015086.2(DDN):c.535G>A (p.Ala179Thr)	DDN, LOC130007814 (A179T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2404557	NM_015086.2(DDN):c.526C>G (p.Arg176Gly)	DDN, DDN-AS1 +1 more (R176G)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3080788	NM_015086.2(DDN):c.521C>A (p.Ala174Glu)	DDN, DDN-AS1 +1 more (A174E)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2366587	NM_015086.2(DDN):c.506C>T (p.Ala169Val)	DDN, DDN-AS1 +1 more (A169V)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2243929	NM_015086.2(DDN):c.460G>A (p.Ala154Thr)	DDN, DDN-AS1 +1 more (A154T)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3271208	NM_015086.2(DDN):c.272T>A (p.Leu91Gln)	DDN, DDN-AS1 +1 more (L91Q)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2327083	NM_015086.2(DDN):c.272T>C (p.Leu91Pro)	DDN, DDN-AS1 +1 more (L91P)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3080787	NM_015086.2(DDN):c.241C>T (p.Pro81Ser)	DDN, DDN-AS1 +1 more (P81S)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance