ROCK2[gene] and "single gene"[properties] - ClinVar

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Items: 66

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2490312	NM_004850.5(ROCK2):c.4130G>A (p.Arg1377Gln)	ROCK2 (R1291Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3155690	NM_004850.5(ROCK2):c.4015A>C (p.Lys1339Gln)	ROCK2 (K1339Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2214003	NM_004850.5(ROCK2):c.3920A>G (p.Lys1307Arg)	ROCK2 (K1221R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2237916	NM_004850.5(ROCK2):c.3820T>C (p.Cys1274Arg)	ROCK2 (C1188R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2614640	NM_004850.5(ROCK2):c.3769T>G (p.Cys1257Gly)	ROCK2 (C1171G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 545556	NM_004850.5(ROCK2):c.3724C>T (p.Gln1242Ter)	ROCK2 (Q1242* +1 more)	Single nucleotide variant (nonsense)	Dextrocardia	GUncertain significance
Select item 3356908	NM_004850.5(ROCK2):c.3688-5C>T	ROCK2	Single nucleotide variant (intron variant)	ROCK2-related disorder	GLikely benign
Select item 403386	NM_004850.5(ROCK2):c.3609-11A>C	ROCK2	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 3039060	NM_004850.5(ROCK2):c.3606A>C (p.Ile1202=)	ROCK2	Single nucleotide variant (synonymous variant)	ROCK2-related disorder	GBenign
Select item 2232279	NM_004850.5(ROCK2):c.3380A>C (p.His1127Pro)	ROCK2 (H1041P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1065485	NM_004850.5(ROCK2):c.3130C>T (p.Arg1044Ter)	ROCK2 (R1044* +1 more)	Single nucleotide variant (nonsense)	Non-immune hydrops fetalis	GUncertain significance
Select item 2225741	NM_004850.5(ROCK2):c.3052G>A (p.Ala1018Thr)	ROCK2 (A932T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2516709	NM_004850.5(ROCK2):c.3037G>A (p.Ala1013Thr)	ROCK2 (A1013T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2672798	NM_004850.5(ROCK2):c.2922dup (p.Asn975Ter)	ROCK2 (N889* +1 more)	Duplication (nonsense)	not provided	GUncertain significance
Select item 3155688	NM_004850.5(ROCK2):c.2885C>T (p.Thr962Met)	ROCK2 (T876M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 585083	NM_004850.5(ROCK2):c.2878G>C (p.Glu960Gln)	ROCK2 (E960Q +1 more)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 2633977	NM_004850.5(ROCK2):c.2830A>T (p.Ile944Phe)	ROCK2 (I858F +1 more)	Single nucleotide variant (missense variant)	ROCK2-related disorder	GUncertain significance
Select item 2335506	NM_004850.5(ROCK2):c.2809T>C (p.Ser937Pro)	ROCK2 (S851P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2354956	NM_004850.5(ROCK2):c.2642G>C (p.Arg881Thr)	ROCK2 (R795T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3033917	NM_004850.5(ROCK2):c.2620-6A>G	ROCK2	Single nucleotide variant (intron variant)	ROCK2-related disorder	GBenign
Select item 2632574	NM_004850.5(ROCK2):c.2588A>C (p.Gln863Pro)	ROCK2 (Q777P +1 more)	Single nucleotide variant (missense variant)	ROCK2-related disorder	GUncertain significance
Select item 3061202	NM_004850.5(ROCK2):c.2583G>A (p.Glu861=)	ROCK2	Single nucleotide variant (synonymous variant)	ROCK2-related disorder	GLikely benign
Select item 3030605	NM_004850.5(ROCK2):c.2550-8C>G	ROCK2	Single nucleotide variant (intron variant)	ROCK2-related disorder	GLikely benign
Select item 3052771	NM_004850.5(ROCK2):c.2460A>C (p.Leu820=)	ROCK2	Single nucleotide variant (synonymous variant)	ROCK2-related disorder	GBenign
Select item 3029203	NM_004850.5(ROCK2):c.2378C>T (p.Thr793Ile)	ROCK2 (T707I +1 more)	Single nucleotide variant (missense variant)	ROCK2-related disorder	GUncertain significance
Select item 3155686	NM_004850.5(ROCK2):c.2253G>C (p.Glu751Asp)	ROCK2 (E665D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2553448	NM_004850.5(ROCK2):c.2248G>T (p.Val750Leu)	ROCK2 (V750L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2485099	NM_004850.5(ROCK2):c.2201A>G (p.Lys734Arg)	ROCK2 (K648R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3050996	NM_004850.5(ROCK2):c.2172C>T (p.Ser724=)	ROCK2	Single nucleotide variant (synonymous variant)	ROCK2-related disorder	GLikely benign
Select item 808664	NM_004850.5(ROCK2):c.2165A>G (p.Tyr722Cys)	ROCK2 (Y722C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 224162	NM_004850.5(ROCK2):c.2140C>T (p.Arg714Ter)	ROCK2 (R714* +1 more)	Single nucleotide variant (nonsense)	not specified	GUncertain significance
Select item 2548470	NM_004850.5(ROCK2):c.2098A>G (p.Ser700Gly)	ROCK2 (S614G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2369193	NM_004850.5(ROCK2):c.1988C>T (p.Ala663Val)	ROCK2 (A663V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3155684	NM_004850.5(ROCK2):c.1987G>A (p.Ala663Thr)	ROCK2 (A577T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3315024	NM_004850.5(ROCK2):c.1982T>C (p.Leu661Ser)	ROCK2 (L661S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2300277	NM_004850.5(ROCK2):c.1886C>G (p.Ser629Cys)	ROCK2 (S629C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3357033	NM_004850.5(ROCK2):c.1869T>G (p.Leu623=)	ROCK2	Single nucleotide variant (synonymous variant)	ROCK2-related disorder	GLikely benign
Select item 2552391	NM_004850.5(ROCK2):c.1846C>A (p.Leu616Ile)	ROCK2 (L616I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1686313	NM_004850.5(ROCK2):c.1802A>T (p.Asp601Val)	ROCK2 (D515V +1 more)	Single nucleotide variant (missense variant)	not specified	GBenign
Select item 3046297	NM_004850.5(ROCK2):c.1689+9A>C	ROCK2	Single nucleotide variant (intron variant)	ROCK2-related disorder	GLikely benign
Select item 2550243	NM_004850.5(ROCK2):c.1682A>G (p.Gln561Arg)	ROCK2 (Q561R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1065486	NM_004850.5(ROCK2):c.1579C>T (p.Arg527Ter)	ROCK2 (R441* +1 more)	Single nucleotide variant (nonsense)	Non-immune hydrops fetalis	GUncertain significance
Select item 2343855	NM_004850.5(ROCK2):c.1541A>G (p.Glu514Gly)	ROCK2 (E428G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3155681	NM_004850.5(ROCK2):c.1426C>A (p.Arg476Ser)	ROCK2 (R476S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2209389	NM_004850.5(ROCK2):c.1426C>T (p.Arg476Cys)	ROCK2 (R390C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3155680	NM_004850.5(ROCK2):c.1364A>G (p.His455Arg)	ROCK2 (H455R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3047934	NM_004850.5(ROCK2):c.1332+8G>T	ROCK2	Single nucleotide variant (intron variant)	ROCK2-related disorder	GLikely benign
Select item 2489398	NM_004850.5(ROCK2):c.1318G>A (p.Glu440Lys)	ROCK2 (E440K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2312511	NM_004850.5(ROCK2):c.1296T>G (p.Asp432Glu)	ROCK2 (D346E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 403387	NM_004850.5(ROCK2):c.1292C>A (p.Thr431Asn)	ROCK2 (T431N +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign
Select item 2590401	NM_004850.5(ROCK2):c.1195A>G (p.Ile399Val)	ROCK2 (I399V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2283378	NM_004850.5(ROCK2):c.1172A>G (p.Lys391Arg)	ROCK2 (K391R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2410756	NM_004850.5(ROCK2):c.967A>G (p.Lys323Glu)	ROCK2 (K323E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2258513	NM_004850.5(ROCK2):c.934T>A (p.Ser312Thr)	ROCK2 (S226T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3155695	NM_004850.5(ROCK2):c.818G>A (p.Arg273Gln)	ROCK2 (R187Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3315025	NM_004850.5(ROCK2):c.732G>A (p.Met244Ile)	ROCK2 (M244I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2294047	NM_004850.5(ROCK2):c.718G>C (p.Asp240His)	ROCK2 (D154H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2305823	NM_004850.5(ROCK2):c.613A>G (p.Ile205Val)	ROCK2 (I119V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3155691	NM_004850.5(ROCK2):c.502G>A (p.Val168Ile)	ROCK2 (V82I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2396421	NM_004850.5(ROCK2):c.443A>G (p.Asn148Ser)	ROCK2 (N62S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3039798	NM_004850.5(ROCK2):c.435C>T (p.Ala145=)	ROCK2	Single nucleotide variant (synonymous variant)	ROCK2-related disorder	GBenign
Select item 755774	NM_004850.5(ROCK2):c.407T>G (p.Phe136Cys)	ROCK2 (F50C +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2297216	NM_004850.5(ROCK2):c.387A>G (p.Ile129Met)	ROCK2 (I129M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2313778	NM_004850.5(ROCK2):c.347A>C (p.Lys116Thr)	ROCK2 (K30T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2482389	NM_004850.5(ROCK2):c.328C>T (p.Arg110Cys)	ROCK2 (R110C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3155687	NM_004850.5(ROCK2):c.238A>G (p.Lys80Glu)	ROCK2 (K80E)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance

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Items: 66