"Ambry Genetics"[submitter] AND "ERMARD"[gene] - ClinVar

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Items: 29

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2539444	NM_174910.3(DYNLT2):c.67G>C (p.Ala23Pro)	DYNLT2, ERMARD (A23P)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2209627	NM_018341.3(ERMARD):c.89A>G (p.Glu30Gly)	ERMARD (E30G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2530947	NM_018341.3(ERMARD):c.170A>G (p.Glu57Gly)	ERMARD (E57G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2176902	NM_018341.3(ERMARD):c.202G>A (p.Val68Met)	ERMARD (V68M)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2166561	NM_018341.3(ERMARD):c.314A>G (p.Glu105Gly)	ERMARD (E105G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2292600	NM_018341.3(ERMARD):c.388A>G (p.Thr130Ala)	ERMARD (T4A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2247613	NM_018341.3(ERMARD):c.484G>A (p.Ala162Thr)	ERMARD (A162T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2551399	NM_018341.3(ERMARD):c.554T>C (p.Leu185Pro)	ERMARD (L185P +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2474111	NM_018341.3(ERMARD):c.647A>C (p.Gln216Pro)	ERMARD (Q90P +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 726245	NM_018341.3(ERMARD):c.661T>A (p.Tyr221Asn)	ERMARD (Y95N +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 2536575	NM_018341.3(ERMARD):c.713C>G (p.Thr238Arg)	ERMARD (T112R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1450654	NM_018341.3(ERMARD):c.713C>A (p.Thr238Lys)	ERMARD (T238K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2608776	NM_018341.3(ERMARD):c.733G>T (p.Val245Phe)	ERMARD (V245F +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2139149	NM_018341.3(ERMARD):c.743A>G (p.Asp248Gly)	ERMARD (D122G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2250013	NM_018341.3(ERMARD):c.782T>C (p.Met261Thr)	ERMARD (M261T +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2494654	NM_018341.3(ERMARD):c.801A>G (p.Ile267Met)	ERMARD (I141M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2603206	NM_018341.3(ERMARD):c.818C>T (p.Pro273Leu)	ERMARD (P147L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2467053	NM_018341.3(ERMARD):c.839T>C (p.Val280Ala)	ERMARD (V280A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2296122	NM_018341.3(ERMARD):c.1013A>G (p.Asp338Gly)	ERMARD (D202G +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2570552	NM_018341.3(ERMARD):c.1267G>A (p.Ala423Thr)	ERMARD (A287T +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2235582	NM_018341.3(ERMARD):c.1274G>T (p.Gly425Val)	ERMARD (G299V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2456844	NM_018341.3(ERMARD):c.1325G>A (p.Ser442Asn)	ERMARD (S442N +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2543747	NM_018341.3(ERMARD):c.1446G>A (p.Met482Ile)	ERMARD (M346I +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2493134	NM_018341.3(ERMARD):c.1572C>G (p.Phe524Leu)	ERMARD (F398L +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2234158	NM_018341.3(ERMARD):c.1705C>T (p.Arg569Cys)	ERMARD (R433C +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2611737	NM_018341.3(ERMARD):c.1712G>C (p.Arg571Pro)	ERMARD (R571P +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2294883	NM_018341.3(ERMARD):c.1741A>G (p.Ile581Val)	ERMARD (I455V +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2515313	NM_018341.3(ERMARD):c.1909G>A (p.Glu637Lys)	ERMARD (E501K +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2323144	NM_018341.3(ERMARD):c.2030T>G (p.Leu677Arg)	ERMARD (L541R +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

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Items: 29