6093[Gene ID] - ClinVar

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Items: 76

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 149674	GRCh38/hg38 18p11.32-q23(chr18:118760-80254946)x3	LOC126862711, LOC126862712 +1643 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 154106	GRCh38/hg38 18p11.32-q23(chr18:136227-80256240)x3	LOC130062278, LOC130062279 +1643 more	Copy number gain	See cases	GPathogenic
Select item 160810	GRCh38/hg38 18p11.32-q23(chr18:148963-80252149)x3	LOC126862732, LOC126862733 +1643 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 33085	GRCh38/hg38 18p11.32-q23(chr18:148963-80252149)x3	SERPINB12, SERPINB13 +1643 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 144654	GRCh38/hg38 18p11.32-q23(chr18:149089-80234391)x3	LOC130062355, LOC130062356 +1642 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 155388	GRCh38/hg38 18p11.21-q11.2(chr18:13340112-23409879)	LOC130062243, LOC130062244 +111 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 2553053	NM_005406.3(ROCK1):c.3847T>A (p.Cys1283Ser)	ROCK1 (C1283S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2549605	NM_005406.3(ROCK1):c.3508A>G (p.Ile1170Val)	ROCK1 (I1170V)	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 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 154990	GRCh38/hg38 18q11.1-22.3(chr18:20962119-74691446)x3	LOC132090510, LOC132090511 +1089 more	Copy number gain	See cases	GPathogenic
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 2589705	NM_005406.3(ROCK1):c.2818C>T (p.Arg940Trp)	ROCK1 (R940W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 769935	NM_005406.3(ROCK1):c.2776A>C (p.Arg926=)	ROCK1	Single nucleotide variant (synonymous variant)	not provided	GBenign
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 777282	NM_005406.3(ROCK1):c.2655-3C>T	ROCK1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2648611	NM_005406.3(ROCK1):c.2518C>A (p.Arg840=)	ROCK1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2607391	NM_005406.3(ROCK1):c.2380G>A (p.Ala794Thr)	ROCK1 (A794T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 777895	NM_005406.3(ROCK1):c.2318C>G (p.Thr773Ser)	ROCK1 (T773S)	Single nucleotide variant (missense variant)	not provided	GBenign
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 3315018	NM_005406.3(ROCK1):c.2198G>A (p.Arg733Gln)	ROCK1 (R733Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 58762	GRCh38/hg38 18q11.1-23(chr18:20989762-80209986)x3	LOC132211113, LOC132211114 +1266 more	Copy number gain	See cases	GPathogenic
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 3155676	NM_005406.3(ROCK1):c.1935C>T (p.Leu645=)	ROCK1	Single nucleotide variant (synonymous variant)	not specified	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 3315020	NM_005406.3(ROCK1):c.1685T>C (p.Val562Ala)	ROCK1 (V562A)	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 2544228	NM_005406.3(ROCK1):c.1202G>A (p.Ser401Asn)	ROCK1 (S401N)	Single nucleotide variant (missense variant)	not specified	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 2378322	NM_005406.3(ROCK1):c.884A>T (p.Asn295Ile)	ROCK1 (N295I)	Single nucleotide variant (missense variant)	not specified	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 2648612	NM_005406.3(ROCK1):c.807C>T (p.Tyr269=)	ROCK1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 727646	NM_005406.3(ROCK1):c.732A>G (p.Glu244=)	ROCK1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 3155679	NM_005406.3(ROCK1):c.481C>A (p.Leu161Ile)	ROCK1 (L161I)	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 2558275	NM_005406.3(ROCK1):c.251G>C (p.Arg84Thr)	ROCK1 (R84T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 148594	GRCh38/hg38 18q11.1(chr18:21085601-21414565)x1	GREB1L, GREB1L-DT +6 more	Copy number loss	See cases	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 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 1807986	GRCh37/hg19 18q11.1(chr18:18529578-18833060)x3	GREB1L, ROCK1	Copy number gain	not provided	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 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 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

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Items: 76