"Ambry Genetics"[submitter] AND "ECM2"[gene] - ClinVar

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Items: 43

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2478243	NM_001393.4(ECM2):c.2036C>T (p.Ser679Phe)	ECM2, CENPP (S679F +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2326747	NM_001393.4(ECM2):c.1930C>T (p.Arg644Trp)	CENPP, ECM2 (R622C +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2305605	NM_001393.4(ECM2):c.1898T>G (p.Leu633Arg)	CENPP, ECM2 (L611R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2360818	NM_001393.4(ECM2):c.1882C>A (p.Gln628Lys)	CENPP, ECM2 (Q628K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2363413	NM_001393.4(ECM2):c.1811A>G (p.Tyr604Cys)	CENPP, ECM2 (Y582C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3086991	NM_001393.4(ECM2):c.1799G>A (p.Arg600His)	CENPP, ECM2 (R600H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2411874	NM_001393.4(ECM2):c.1785T>A (p.Asp595Glu)	CENPP, ECM2 (D595E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2467278	NM_001393.4(ECM2):c.1708C>T (p.Arg570Trp)	CENPP, ECM2 (R548W +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3086990	NM_001393.4(ECM2):c.1652C>T (p.Pro551Leu)	CENPP, ECM2 (P529L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2401633	NM_001393.4(ECM2):c.1559A>G (p.Lys520Arg)	CENPP, ECM2 (K498R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2618844	NM_001393.4(ECM2):c.1532T>C (p.Ile511Thr)	CENPP, ECM2 (I511T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2400340	NM_001393.4(ECM2):c.1521T>A (p.His507Gln)	CENPP, ECM2 (H485Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3086989	NM_001393.4(ECM2):c.1502C>T (p.Thr501Ile)	CENPP, ECM2 (T501I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2461453	NM_001393.4(ECM2):c.1460T>C (p.Ile487Thr)	CENPP, ECM2 (I465T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2481767	NM_001393.4(ECM2):c.1439C>T (p.Pro480Leu)	CENPP, ECM2 (P458L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2277073	NM_001393.4(ECM2):c.1412T>C (p.Leu471Pro)	CENPP, ECM2 (L449P +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3086988	NM_001393.4(ECM2):c.1408C>A (p.Arg470Ser)	CENPP, ECM2 (R448S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2281663	NM_001393.4(ECM2):c.1397T>C (p.Leu466Pro)	CENPP, ECM2 (L466P +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2463246	NM_001393.4(ECM2):c.1288G>A (p.Asp430Asn)	CENPP, ECM2 (D408N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2618144	NM_001393.4(ECM2):c.1283C>T (p.Ala428Val)	CENPP, ECM2 (A428V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2240526	NM_001393.4(ECM2):c.1186A>T (p.Met396Leu)	CENPP, ECM2 (M396L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2476910	NM_001393.4(ECM2):c.1075C>A (p.Pro359Thr)	CENPP, ECM2 (P337T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2212439	NM_001393.4(ECM2):c.1066G>A (p.Ala356Thr)	CENPP, ECM2 (A356T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2456420	NM_001393.4(ECM2):c.1060T>C (p.Ser354Pro)	CENPP, ECM2 (S332P +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2371433	NM_001393.4(ECM2):c.1016C>T (p.Pro339Leu)	CENPP, ECM2 (P339L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2298614	NM_001393.4(ECM2):c.944G>A (p.Arg315His)	CENPP, ECM2 (R293H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2387555	NM_001393.4(ECM2):c.877G>A (p.Val293Ile)	CENPP, ECM2 (V293I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2543213	NM_001393.4(ECM2):c.865G>C (p.Glu289Gln)	CENPP, ECM2 (E289Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3086998	NM_001393.4(ECM2):c.820G>C (p.Asp274His)	CENPP, ECM2 (D252H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3086997	NM_001393.4(ECM2):c.796C>T (p.Arg266Cys)	CENPP, ECM2 (R244C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3086995	NM_001393.4(ECM2):c.776G>A (p.Arg259Lys)	CENPP, ECM2 (R237K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2271684	NM_001393.4(ECM2):c.767A>T (p.Glu256Val)	CENPP, ECM2 (E256V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3086994	NM_001393.4(ECM2):c.664G>A (p.Glu222Lys)	CENPP, ECM2 (E200K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2595671	NM_001393.4(ECM2):c.623A>G (p.Lys208Arg)	CENPP, ECM2 (K208R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3086993	NM_001393.4(ECM2):c.560C>G (p.Pro187Arg)	CENPP, ECM2 (P165R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3086992	NM_001393.4(ECM2):c.496C>T (p.Leu166Phe)	CENPP, ECM2 (L166F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2377351	NM_001393.4(ECM2):c.466G>C (p.Val156Leu)	CENPP, ECM2 (V156L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2553582	NM_001393.4(ECM2):c.439G>C (p.Val147Leu)	CENPP, ECM2 (V147L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2267757	NM_001393.4(ECM2):c.368C>T (p.Thr123Ile)	CENPP, ECM2 (T123I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2489121	NM_001393.4(ECM2):c.205A>G (p.Ile69Val)	CENPP, ECM2 (I69V)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2210495	NM_001393.4(ECM2):c.145T>A (p.Ser49Thr)	CENPP, ECM2 (S49T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2386048	NM_001393.4(ECM2):c.144A>T (p.Arg48Ser)	CENPP, ECM2 (R48S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2544497	NM_001393.4(ECM2):c.65A>C (p.Asn22Thr)	CENPP, ECM2 (N22T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance

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Items: 43