ClinVar for Gene (Select 6093) - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 76

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3315020	NM_005406.3(ROCK1):c.1685T>C (p.Val562Ala)	ROCK1 (V562A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3315018	NM_005406.3(ROCK1):c.2198G>A (p.Arg733Gln)	ROCK1 (R733Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3315017	NM_005406.3(ROCK1):c.1997A>G (p.Lys666Arg)	ROCK1 (K666R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3315016	NM_005406.3(ROCK1):c.2837G>A (p.Ser946Asn)	ROCK1 (S946N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3155679	NM_005406.3(ROCK1):c.481C>A (p.Leu161Ile)	ROCK1 (L161I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3155678	NM_005406.3(ROCK1):c.3448A>G (p.Ile1150Val)	ROCK1 (I1150V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3155676	NM_005406.3(ROCK1):c.1935C>T (p.Leu645=)	ROCK1	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3063561	GRCh37/hg19 18q11.1(chr18:18540833-18833060)x3	GREB1L, ROCK1	Copy number gain	not specified	GUncertain significance
Select item 3063559	GRCh37/hg19 18q11.1-12.1(chr18:18529339-26968022)x3	ABHD3, ANKRD29 +29 more	Copy number gain	not specified	GUncertain significance
Select item 2684868	GRCh37/hg19 18q11.1(chr18:18540834-18792828)x3	ROCK1	Copy number gain	not provided	GUncertain significance
Select item 2648612	NM_005406.3(ROCK1):c.807C>T (p.Tyr269=)	ROCK1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2648611	NM_005406.3(ROCK1):c.2518C>A (p.Arg840=)	ROCK1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2616391	NM_005406.3(ROCK1):c.244A>G (p.Ile82Val)	ROCK1 (I82V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2607391	NM_005406.3(ROCK1):c.2380G>A (p.Ala794Thr)	ROCK1 (A794T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2589705	NM_005406.3(ROCK1):c.2818C>T (p.Arg940Trp)	ROCK1 (R940W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2558275	NM_005406.3(ROCK1):c.251G>C (p.Arg84Thr)	ROCK1 (R84T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2553053	NM_005406.3(ROCK1):c.3847T>A (p.Cys1283Ser)	ROCK1 (C1283S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2549605	NM_005406.3(ROCK1):c.3508A>G (p.Ile1170Val)	ROCK1 (I1170V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2544228	NM_005406.3(ROCK1):c.1202G>A (p.Ser401Asn)	ROCK1 (S401N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2514867	NM_005406.3(ROCK1):c.2221T>C (p.Cys741Arg)	ROCK1 (C741R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2403652	NM_005406.3(ROCK1):c.1219T>C (p.Ser407Pro)	ROCK1 (S407P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2378322	NM_005406.3(ROCK1):c.884A>T (p.Asn295Ile)	ROCK1 (N295I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2373884	NM_005406.3(ROCK1):c.623A>C (p.Lys208Thr)	ROCK1 (K208T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2369440	NM_005406.3(ROCK1):c.2480A>G (p.Gln827Arg)	ROCK1 (Q827R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2274230	NM_005406.3(ROCK1):c.346T>C (p.Ser116Pro)	ROCK1 (S116P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2226210	NM_005406.3(ROCK1):c.2750C>T (p.Thr917Met)	ROCK1 (T917M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2215056	NM_005406.3(ROCK1):c.47A>G (p.Asn16Ser)	ROCK1 (N16S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1807986	GRCh37/hg19 18q11.1(chr18:18529578-18833060)x3	GREB1L, ROCK1	Copy number gain	not provided	GUncertain significance
Select item 1803756	NM_005406.3(ROCK1):c.877_878insT (p.His293fs)	ROCK1 (H293fs)	Insertion (frameshift variant)	See cases	GUncertain significance
Select item 1703574	GRCh37/hg19 18p11.32-q23(chr18:1-78077248)	CABYR, CBLN2 +267 more	Copy number gain	Trisomy 18	GPathogenic
Select item 1526608	GRCh37/hg19 18p11.21-q11.1(chr18:14715282-18988457)	ANKRD30B, GREB1L +1 more	Copy number gain	not specified	GUncertain significance
Select item 1526597	GRCh37/hg19 18p11.32-q23(chr18:136226-78014123)	ABHD3, ACAA2 +267 more	Copy number gain	not specified	GPathogenic
Select item 1340167	GRCh37/hg19 18q11.1(chr18:18532909-18975889)x3	GREB1L, ROCK1	Copy number gain	not provided	GUncertain significance
Select item 1340068	GRCh37/hg19 18q11.1-12.1(chr18:18611942-26843691)x3	ABHD3, ANKRD29 +29 more	Copy number gain	not provided	GUncertain significance
Select item 1340066	GRCh37/hg19 18p11.32-q12.1(chr18:136226-25252276)x3	ABHD3, ADCYAP1 +95 more	Copy number gain	not provided	GPathogenic
Select item 1326872	Single allele	AKAIN1, LIPG +174 more	Deletion	Intellectual disability	GPathogenic
Select item 815989	GRCh37/hg19 18q11.1-11.2(chr18:18532908-19094148)x3	GREB1L, ROCK1	Copy number gain	not provided	GUncertain significance
Select item 784748	NM_005406.3(ROCK1):c.1051+8T>C	ROCK1	Single nucleotide variant (intron variant)	not provided	GBenign/Likely benign
Select item 777895	NM_005406.3(ROCK1):c.2318C>G (p.Thr773Ser)	ROCK1 (T773S)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 777282	NM_005406.3(ROCK1):c.2655-3C>T	ROCK1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 769935	NM_005406.3(ROCK1):c.2776A>C (p.Arg926=)	ROCK1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 727646	NM_005406.3(ROCK1):c.732A>G (p.Glu244=)	ROCK1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 711996	NM_005406.3(ROCK1):c.1785T>G (p.Ser595=)	ROCK1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 688309	GRCh37/hg19 18q11.1(chr18:18604788-18920850)x3	GREB1L, ROCK1	Copy number gain	not provided	GUncertain significance
Select item 443993	GRCh37/hg19 18p11.32-q23(chr18:136227-78014123)	ABHD3, ACAA2 +267 more	Copy number gain	See cases	GPathogenic
Select item 443662	GRCh37/hg19 18p11.21-q23(chr18:14869204-78014123)x3	ABHD3, ACAA2 +200 more	Copy number gain	See cases	GPathogenic
Select item 442451	GRCh37/hg19 18p11.32-q21.1(chr18:136227-46171053)x3	ABHD3, ADCYAP1 +157 more	Copy number gain	See cases	GPathogenic
Select item 442013	GRCh37/hg19 18q11.1-22.1(chr18:18521285-64495798)x3	ABHD3, ACAA2 +163 more	Copy number gain	See cases	GPathogenic
Select item 441767	GRCh37/hg19 18p11.32-q11.2(chr18:136226-21657790)x3	ABHD3, ADCYAP1 +84 more	Copy number gain	See cases	GPathogenic
Select item 441657	GRCh37/hg19 18q11.1-11.2(chr18:18540833-19156332)x3	ESCO1, GREB1L +1 more	Copy number gain	See cases	GUncertain significance
Select item 395441	GRCh37/hg19 18p11.32-q23(chr18:163323-78005185)x3	ABHD3, ACAA2 +267 more	Copy number gain	See cases	GPathogenic
Select item 395050	GRCh37/hg19 18p11.21-q11.2(chr18:12254327-23262749)x3	ABHD3, AFG3L2 +40 more	Copy number gain	See cases	GPathogenic
Select item 376704	NM_005406.3(ROCK1):c.3577C>T (p.Pro1193Ser)	ROCK1 (P1193S)	Single nucleotide variant (missense variant)	Lung carcinoma +1 more	GLikely pathogenic
Select item 253620	GRCh37/hg19 18q11.1-23(chr18:18548019-77954165)x3	ABHD3, ACAA2 +200 more	Copy number gain	See cases	GPathogenic
Select item 253424	GRCh37/hg19 18p11.32-q23(chr18:163323-78005236)x3	TNFRSF11A, TXNL1 +267 more	Copy number gain	See cases	GPathogenic
Select item 221534	GRCh37/hg19 18p11.21-q11.1(chr18:14748529-18690826)x3	ANKRD30B, ROCK1	Copy number gain	Breast ductal adenocarcinoma	GUncertain significance
Select item 160810	GRCh38/hg38 18p11.32-q23(chr18:148963-80252149)x3	LOC126862732, LOC126862733 +1643 more	Copy number gain	See cases	GPathogenic
Select item 155388	GRCh38/hg38 18p11.21-q11.2(chr18:13340112-23409879)	LOC130062243, LOC130062244 +111 more	Copy number gain	See cases	GPathogenic
Select item 155151	GRCh38/hg38 18p11.32-q23(chr18:136226-80256240)x3	LOC130062667, LOC130062668 +1643 more	Copy number gain	See cases	GPathogenic
Select item 155008	GRCh38/hg38 18p11.22-q11.2(chr18:8779843-24685379)x3	LOC130062208, LOC130062209 +322 more	Copy number gain	See cases	GPathogenic
Select item 154990	GRCh38/hg38 18q11.1-22.3(chr18:20962119-74691446)x3	LOC132090510, LOC132090511 +1089 more	Copy number gain	See cases	GPathogenic
Select item 154106	GRCh38/hg38 18p11.32-q23(chr18:136227-80256240)x3	LOC130062278, LOC130062279 +1643 more	Copy number gain	See cases	GPathogenic
Select item 154073	GRCh38/hg38 18q11.1-12.3(chr18:20941324-40360620)x3	ABHD3, ANKRD29 +378 more	Copy number gain	See cases	GPathogenic
Select item 153150	GRCh38/hg38 18q11.1-12.1(chr18:20949378-34363455)x3	ABHD3, ANKRD29 +282 more	Copy number gain	See cases	GPathogenic
Select item 150559	GRCh38/hg38 18p11.32-q23(chr18:149089-80254936)x3	LOC125368553, LOC125368554 +1643 more	Copy number gain	See cases	GPathogenic
Select item 149674	GRCh38/hg38 18p11.32-q23(chr18:118760-80254946)x3	LOC126862711, LOC126862712 +1643 more	Copy number gain	See cases	GPathogenic
Select item 148594	GRCh38/hg38 18q11.1(chr18:21085601-21414565)x1	GREB1L, GREB1L-DT +6 more	Copy number loss	See cases	GUncertain significance
Select item 144654	GRCh38/hg38 18p11.32-q23(chr18:149089-80234391)x3	LOC130062355, LOC130062356 +1642 more	Copy number gain	See cases	GPathogenic
Select item 58762	GRCh38/hg38 18q11.1-23(chr18:20989762-80209986)x3	LOC132211113, LOC132211114 +1266 more	Copy number gain	See cases	GPathogenic
Select item 58758	GRCh38/hg38 18q11.1-12.1(chr18:20960320-28601877)x3	ABHD3, ANKRD29 +204 more	Copy number gain	See cases	GPathogenic
Select item 58756	GRCh38/hg38 18q11.1-23(chr18:20960320-80234429)x3	LOC126862717, LOC126862718 +1266 more	Copy number gain	See cases	GPathogenic
Select item 58729	GRCh38/hg38 18p11.32-q23(chr18:148963-80244381)x3	ANKRD12, ANKRD29 +1642 more	Copy number gain	See cases	GPathogenic
Select item 58728	GRCh38/hg38 18p11.32-q11.1(chr18:148963-21040153)x3	SLC35G4, SMCHD1 +375 more	Copy number gain	See cases	GPathogenic
Select item 58720	GRCh38/hg38 18p11.32-q11.1(chr18:53345-20948503)x3	LINC00668, LINC01254 +379 more	Copy number gain	See cases	GPathogenic
Select item 58718	GRCh38/hg38 18p11.32-q23(chr18:53345-80209986)x3	ABHD3, ACAA2 +1646 more	Copy number gain	See cases	GPathogenic
Select item 33085	GRCh38/hg38 18p11.32-q23(chr18:148963-80252149)x3	SERPINB12, SERPINB13 +1643 more	Copy number gain	See cases	GPathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from Gene

Items: 76