"Ambry Genetics"[submitter] AND "NCAPH2"[gene] - ClinVar

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Items: 48

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2347561	NM_152299.4(NCAPH2):c.161T>C (p.Ile54Thr)	NCAPH2 (I54T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2344415	NM_152299.4(NCAPH2):c.325G>A (p.Gly109Arg)	NCAPH2 (G109R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2330294	NM_152299.4(NCAPH2):c.332C>T (p.Pro111Leu)	NCAPH2 (P111L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2252365	NM_152299.4(NCAPH2):c.416C>T (p.Pro139Leu)	NCAPH2 (P139L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2247365	NM_152299.4(NCAPH2):c.479A>G (p.Lys160Arg)	NCAPH2 (K160R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2249935	NM_152299.4(NCAPH2):c.562C>G (p.Pro188Ala)	NCAPH2 (P188A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2476918	NM_152299.4(NCAPH2):c.586C>T (p.Pro196Ser)	NCAPH2 (P196S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2619490	NM_152299.4(NCAPH2):c.616G>C (p.Gly206Arg)	NCAPH2 (G206R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2596500	NM_152299.4(NCAPH2):c.652G>A (p.Gly218Arg)	NCAPH2 (G218R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2208019	NM_152299.4(NCAPH2):c.685G>A (p.Val229Met)	NCAPH2 (V229M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2388179	NM_152299.4(NCAPH2):c.737C>T (p.Ser246Phe)	NCAPH2 (S246F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2480960	NM_152299.4(NCAPH2):c.766G>A (p.Gly256Ser)	NCAPH2 (G256S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2207821	NM_152299.4(NCAPH2):c.893G>A (p.Arg298Gln)	NCAPH2 (R149Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2261448	NM_152299.4(NCAPH2):c.904G>C (p.Gly302Arg)	NCAPH2 (G153R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2335167	NM_152299.4(NCAPH2):c.919G>A (p.Ala307Thr)	NCAPH2 (A158T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2236382	NM_152299.4(NCAPH2):c.946C>G (p.Pro316Ala)	NCAPH2 (L167V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2268172	NM_152299.4(NCAPH2):c.953A>G (p.Gln318Arg)	NCAPH2 (Q169R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2454775	NM_152299.4(NCAPH2):c.964C>T (p.Pro322Ser)	NCAPH2 (P173S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2226661	NM_152299.4(NCAPH2):c.1022C>G (p.Pro341Arg)	NCAPH2 (P192R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2252813	NM_152299.4(NCAPH2):c.1046A>G (p.Gln349Arg)	NCAPH2 (Q200R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2490962	NM_152299.4(NCAPH2):c.1051C>T (p.Arg351Cys)	NCAPH2 (R351C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2263323	NM_152299.4(NCAPH2):c.1214G>A (p.Arg405Gln)	NCAPH2 (R405Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2398348	NM_152299.4(NCAPH2):c.1366G>A (p.Ala456Thr)	NCAPH2 (A457T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2539672	NM_152299.4(NCAPH2):c.1429C>A (p.Leu477Ile)	NCAPH2 (L477I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2514056	NM_152299.4(NCAPH2):c.1448A>G (p.Gln483Arg)	NCAPH2 (Q484R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2624421	NM_152299.4(NCAPH2):c.1465A>G (p.Thr489Ala)	NCAPH2 (T489A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2396603	NM_152299.4(NCAPH2):c.1541C>T (p.Pro514Leu)	NCAPH2 (P514L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2538614	NM_152299.4(NCAPH2):c.1556C>T (p.Thr519Ile)	NCAPH2 (T520I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2459458	NM_152299.4(NCAPH2):c.1603T>C (p.Cys535Arg)	NCAPH2 (C535R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2251072	NM_152299.4(NCAPH2):c.1634C>T (p.Pro545Leu)	NCAPH2 (P546L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2217584	NM_152299.4(NCAPH2):c.1696G>A (p.Glu566Lys)	NCAPH2 (E567K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2333514	NM_152299.4(NCAPH2):c.1729G>A (p.Val577Met)	NCAPH2 (V577M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2549247	NM_152299.4(NCAPH2):c.1761C>G (p.His587Gln)	NCAPH2 (H587Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2041236	NM_005138.3(SCO2):c.767G>A (p.Arg256Gln)	SCO2, NCAPH2 (R256Q)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2313779	NM_005138.3(SCO2):c.742G>A (p.Glu248Lys)	NCAPH2, SCO2 (E248K)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2552664	NM_005138.3(SCO2):c.737C>T (p.Ser246Leu)	NCAPH2, SCO2 (S246L)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1472512	NM_005138.3(SCO2):c.728G>A (p.Arg243Gln)	NCAPH2, SCO2 (R243Q)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GUncertain significance
Select item 2286455	NM_005138.3(SCO2):c.643G>A (p.Asp215Asn)	NCAPH2, SCO2 (D215N)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2541599	NM_005138.3(SCO2):c.617G>C (p.Arg206Pro)	NCAPH2, SCO2 (R206P)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2525710	NM_005138.3(SCO2):c.610dup (p.Ser204fs)	NCAPH2, SCO2 (S204fs)	Duplication (3 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2231677	NM_005138.3(SCO2):c.599A>G (p.Gln200Arg)	SCO2, NCAPH2 (Q200R)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 215130	NM_005138.3(SCO2):c.535C>T (p.Arg179Cys)	NCAPH2, SCO2 (R179C)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases +3 more	GUncertain significance
Select item 50905	NM_005138.3(SCO2):c.341G>A (p.Arg114His)	NCAPH2, SCO2 (R114H)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 2213786	NM_005138.3(SCO2):c.335G>T (p.Arg112Leu)	SCO2, NCAPH2 (R112L)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2079980	NM_005138.3(SCO2):c.335G>A (p.Arg112Gln)	NCAPH2, SCO2 (R112Q)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2430622	NM_005138.3(SCO2):c.221C>A (p.Ala74Asp)	NCAPH2, SCO2 (A74D)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GUncertain significance
Select item 900447	NM_005138.3(SCO2):c.173G>A (p.Arg58Gln)	NCAPH2, SCO2 (R58Q)	Single nucleotide variant (3 prime UTR variant +1 more)	Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 +3 more	GUncertain significance
Select item 2487548	NM_005138.3(SCO2):c.21C>A (p.Ser7Arg)	NCAPH2, SCO2 (S7R)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance

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Items: 48