ClinVar for Gene (Select 9475) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 3315023	NM_004850.5(ROCK2):c.53C>T (p.Pro18Leu)	LOC129933119, ROCK2 (P18L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3315022	NM_004850.5(ROCK2):c.118C>T (p.Pro40Ser)	LOC129933119, ROCK2 (P40S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3315021	NM_004850.5(ROCK2):c.38C>T (p.Ala13Val)	LOC129933119, ROCK2 (A13V)	Single nucleotide variant (missense variant +1 more)	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 3155694	NM_004850.5(ROCK2):c.77G>T (p.Arg26Leu)	LOC129933119, ROCK2 (R26L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3155693	NM_004850.5(ROCK2):c.61G>T (p.Gly21Trp)	LOC129933119, ROCK2 (G21W)	Single nucleotide variant (missense variant +1 more)	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 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 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 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
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 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 3155683	NM_004850.5(ROCK2):c.17C>T (p.Pro6Leu)	LOC129933119, ROCK2 (P6L)	Single nucleotide variant (missense variant +1 more)	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 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 3148883	GRCh37/hg19 2p25.3-22.3(chr2:12771-35541353)x3	ABHD1, ACP1 +182 more	Copy number gain	See cases	GPathogenic
Select item 3062591	GRCh37/hg19 2p25.2-24.1(chr2:6375088-23538518)x3	APOB, ASAP2 +59 more	Copy number gain	not specified	GPathogenic
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 3053510	NM_004850.5(ROCK2):c.51G>T (p.Ala17=)	LOC129933119, ROCK2	Single nucleotide variant (synonymous variant +1 more)	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 3050996	NM_004850.5(ROCK2):c.2172C>T (p.Ser724=)	ROCK2	Single nucleotide variant (synonymous variant)	ROCK2-related disorder	GLikely benign
Select item 3049867	NM_004850.5(ROCK2):c.121A>G (p.Ile41Val)	LOC129933119, ROCK2 (I41V)	Single nucleotide variant (missense variant +1 more)	ROCK2-related disorder	GLikely benign
Select item 3047934	NM_004850.5(ROCK2):c.1332+8G>T	ROCK2	Single nucleotide variant (intron variant)	ROCK2-related disorder	GLikely benign
Select item 3046297	NM_004850.5(ROCK2):c.1689+9A>C	ROCK2	Single nucleotide variant (intron variant)	ROCK2-related disorder	GLikely benign
Select item 3039798	NM_004850.5(ROCK2):c.435C>T (p.Ala145=)	ROCK2	Single nucleotide variant (synonymous variant)	ROCK2-related disorder	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 3033972	NM_004850.5(ROCK2):c.12C>T (p.Pro4=)	LOC129933119, ROCK2	Single nucleotide variant (synonymous variant +1 more)	ROCK2-related disorder	GLikely benign
Select item 3033917	NM_004850.5(ROCK2):c.2620-6A>G	ROCK2	Single nucleotide variant (intron variant)	ROCK2-related disorder	GBenign
Select item 3030605	NM_004850.5(ROCK2):c.2550-8C>G	ROCK2	Single nucleotide variant (intron variant)	ROCK2-related disorder	GLikely benign
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 2672798	NM_004850.5(ROCK2):c.2922dup (p.Asn975Ter)	ROCK2 (N889* +1 more)	Duplication (nonsense)	not provided	GUncertain significance
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 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 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 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 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 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 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 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 2545763	NM_004850.5(ROCK2):c.109C>T (p.Pro37Ser)	LOC129933119, ROCK2 (P37S)	Single nucleotide variant (missense variant +1 more)	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 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 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 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 2484460	NM_004850.5(ROCK2):c.34G>C (p.Gly12Arg)	LOC129933119, ROCK2 (G12R)	Single nucleotide variant (missense variant +1 more)	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 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 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 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 2360119	NM_004850.5(ROCK2):c.103C>G (p.Arg35Gly)	LOC129933119, ROCK2 (R35G)	Single nucleotide variant (missense variant +1 more)	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 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 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 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 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 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 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 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 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 2283379	NM_004850.5(ROCK2):c.50C>T (p.Ala17Val)	LOC129933119, ROCK2 (A17V)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
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 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 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 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 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 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 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 1808629	GRCh37/hg19 2p25.3-22.3(chr2:706460-35523639)x3	ABHD1, ADAM17 +177 more	Copy number gain	not provided	GPathogenic
Select item 1808113	GRCh37/hg19 2p25.1(chr2:11410615-12064438)x3	E2F6, GREB1 +4 more	Copy number gain	not provided	GUncertain significance
Select item 1703543	GRCh37/hg19 2p25.3-q37.3(chr2:1-243199373)	ABCA12, ABCB11 +1216 more	Copy number gain	Mosaic trisomy 2	GPathogenic
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 1527781	GRCh37/hg19 2p25.1(chr2:11410614-12064438)	E2F6, GREB1 +4 more	Copy number gain	not specified	GUncertain significance
Select item 1340626	GRCh37/hg19 2p25.1(chr2:9717186-12013065)x1	ATP6V1C2, C2orf48 +19 more	Copy number loss	not provided	GUncertain significance
Select item 1340405	GRCh37/hg19 2p25.1-24.3(chr2:8935077-15722794)x1	ADAM17, ASAP2 +29 more	Copy number loss	not provided	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 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 979983	GRCh37/hg19 2p25.1-24.3(chr2:11144226-12569011)x3	E2F6, SLC66A3 +6 more	Copy number gain	not provided	GUncertain significance
Select item 979982	GRCh37/hg19 2p25.1(chr2:11410614-12054698)x3	NTSR2, GREB1 +4 more	Copy number gain	not provided	GUncertain significance
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 755774	NM_004850.5(ROCK2):c.407T>G (p.Phe136Cys)	ROCK2 (F50C +1 more)	Single nucleotide variant (missense variant)	ROCK2-related disorder +1 more	GLikely benign
Select item 686819	GRCh37/hg19 2p25.1(chr2:11410614-12054698)x3	E2F6, GREB1 +4 more	Copy number gain	not provided	GUncertain significance
Select item 686314	GRCh37/hg19 2p25.1(chr2:11405245-12054698)x3	E2F6, GREB1 +4 more	Copy number gain	not provided	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 545556	NM_004850.5(ROCK2):c.3724C>T (p.Gln1242Ter)	ROCK2 (Q1242* +1 more)	Single nucleotide variant (nonsense)	Dextrocardia	GUncertain significance
Select item 545241	NC_000002.12:g.(?_11177745)_(16113827_?)del	MYCNUT, NBAS +100 more	Deletion	Schizophrenia	GLikely pathogenic
Select item 443675	GRCh37/hg19 2p25.3-24.1(chr2:12770-20081474)x3	ACP1, ADAM17 +65 more	Copy number gain	See cases	GPathogenic
Select item 442998	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)	RGPD4, RGPD5 +1214 more	Copy number gain	See cases	GPathogenic
Select item 442997	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3	IL1F10, IL1R1 +1214 more	Copy number gain	See cases	GPathogenic
Select item 403387	NM_004850.5(ROCK2):c.1292C>A (p.Thr431Asn)	ROCK2 (T431N +1 more)	Single nucleotide variant (missense variant)	not specified	GBenign
Select item 403386	NM_004850.5(ROCK2):c.3609-11A>C	ROCK2	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 402129	GRCh37/hg19 2p25.1-24.3(chr2:11142721-12660466)x1	LINC00570, NTSR2 +6 more	Copy number loss	See cases	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 155615	GRCh38/hg38 2p25.3-21(chr2:236816-45983232)x3	LINC01115, LINC01121 +1400 more	Copy number gain	See cases	GPathogenic
Select item 154445	GRCh38/hg38 2p25.1-24.3(chr2:10790663-14417134)x3	C2orf50, E2F6 +98 more	Copy number gain	See cases	GPathogenic
Select item 153652	GRCh38/hg38 2p25.1(chr2:11270488-11924312)x3	E2F6, GREB1 +39 more	Copy number gain	See cases	GUncertain significance
Select item 153520	GRCh38/hg38 2p25.3-23.3(chr2:12770-25039694)x3	LOC129933244, LOC129933245 +653 more	Copy number gain	See cases	GPathogenic
Select item 153441	GRCh38/hg38 2p25.3-22.3(chr2:12770-33711509)x3	LOC126806103, LOC126806104 +1047 more	Copy number gain	See cases	GPathogenic
Select item 152995	GRCh38/hg38 2p25.1-11.2(chr2:7495123-87705899)x3	HAAO, HADHA +2457 more	Copy number gain	See cases	GBenign

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