LCORL[gene] - ClinVar

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Items: 73

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2579172	GRCh38/hg38 4p16.3-11(chr4:1-49062177)x3	LOC123477714, LOC123477715 +1267 more	Copy number gain	Neurodevelopmental disorder	GPathogenic
Select item 148186	GRCh38/hg38 4p16.3-12(chr4:36424-47491595)x3	LOC129992145, LOC129992146 +1209 more	Copy number gain	See cases	GPathogenic
Select item 155646	GRCh38/hg38 4p16.3-15.31(chr4:68453-20385608)x1	LOC129992028, LOC129992029 +691 more	Copy number loss	See cases	GPathogenic
Select item 149255	GRCh38/hg38 4p16.3-15.31(chr4:72555-21022414)x3	LOC126806993, LOC126806994 +702 more	Copy number gain	See cases	GPathogenic
Select item 144195	GRCh38/hg38 4p16.3-14(chr4:72555-39477144)x3	ABLIM2, ACOX3 +1039 more	Copy number gain	See cases	GPathogenic
Select item 58011	GRCh38/hg38 4p16.3-15.1(chr4:72555-33130620)x3	LOC129992237, LOC129992238 +861 more	Copy number gain	See cases	GPathogenic
Select item 57902	GRCh38/hg38 4p16.3-15.1(chr4:72555-28066309)x1	LOC129992157, LOC129992158 +832 more	Copy number loss	See cases	GPathogenic
Select item 58015	GRCh38/hg38 4p16.3-14(chr4:85149-38700366)x3	SOD3, SORCS2 +987 more	Copy number gain	See cases	GPathogenic
Select item 58013	GRCh38/hg38 4p16.3-15.2(chr4:85149-22450018)x3	ABLIM2, ACOX3 +716 more	Copy number gain	See cases	GPathogenic
Select item 2579174	GRCh38/hg38 4p16.3-q12(chr4:85624-57073230)x3	LOC129992561, LOC129992562 +1409 more	Copy number gain	Neurodevelopmental disorder	GPathogenic
Select item 2579173	GRCh38/hg38 4p16.3-13(chr4:2904667-42963232)x3	LOC129992261, LOC129992262 +962 more	Copy number gain	Neurodevelopmental disorder	GPathogenic
Select item 2445987	GRCh38/hg38 4p15.33-14(chr4:11399082-38137335)	FGFBP1, LOC126806998 +393 more	Copy number loss	4p partial monosomy syndrome	GPathogenic
Select item 57509	GRCh38/hg38 4p15.33-15.31(chr4:14061129-20121834)x1	BST1, C1QTNF7 +98 more	Copy number loss	See cases	GPathogenic
Select item 58026	GRCh38/hg38 4p15.33-15.31(chr4:14659764-18274924)x3	BST1, C1QTNF7 +84 more	Copy number gain	See cases	GPathogenic
Select item 146534	GRCh38/hg38 4p15.32-15.1(chr4:16925022-32113076)x1	ADGRA3, ANAPC4 +201 more	Copy number loss	See cases	GPathogenic
Select item 150333	GRCh38/hg38 4p15.32-15.2(chr4:17041381-22524915)x1	ADGRA3, CLRN2 +60 more	Copy number loss	See cases	GUncertain significance
Select item 3181316	NM_022346.5(NCAPG):c.2872G>C (p.Val958Leu)	LCORL, NCAPG (V958L)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3181319	NM_022346.5(NCAPG):c.2882G>A (p.Arg961Lys)	LCORL, NCAPG (R961K)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2368312	NM_022346.5(NCAPG):c.2914G>A (p.Asp972Asn)	LCORL, NCAPG (D972N)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2472843	NM_022346.5(NCAPG):c.2971C>T (p.Pro991Ser)	LCORL, NCAPG (P991S)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2213599	NM_022346.5(NCAPG):c.2980G>A (p.Ala994Thr)	LCORL, NCAPG (A994T)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2369461	NM_001394446.1(LCORL):c.776+1960G>A	LCORL (S314N +1 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 3118147	NM_001394446.1(LCORL):c.776+1847G>A	LCORL (M276I +1 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2523056	NM_001394446.1(LCORL):c.776+1825G>C	LCORL (G269A +1 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 3118146	NM_001394446.1(LCORL):c.776+1799T>G	LCORL (S420R +1 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2516250	NM_001394446.1(LCORL):c.776+1762C>T	LCORL (P408L +1 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2516249	NM_001394446.1(LCORL):c.776+1761C>T	LCORL (P408S +1 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 3118152	NM_001394446.1(LCORL):c.776+1503T>C	LCORL (S322P +1 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2463828	NM_001394446.1(LCORL):c.776+1403G>C	LCORL (Q288H +1 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2294314	NM_001394446.1(LCORL):c.776+1357C>G	LCORL (A273G +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2600681	NM_001394446.1(LCORL):c.776+1329A>C	LCORL (N264H +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3118151	NM_001394446.1(LCORL):c.776+1318G>A	LCORL (R260K +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2516379	NM_001394446.1(LCORL):c.772G>A (p.Ala258Thr)	LCORL (A98T +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2494976	NM_001394446.1(LCORL):c.582A>C (p.Lys194Asn)	LCORL (K34N +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2216055	NM_001394446.1(LCORL):c.571A>G (p.Ile191Val)	LCORL (I191V +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2604457	NM_001394446.1(LCORL):c.554G>T (p.Gly185Val)	LCORL (G185V +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2249452	NM_001394446.1(LCORL):c.433C>T (p.Leu145Phe)	LCORL (L145F)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2342363	NM_001394446.1(LCORL):c.422G>A (p.Arg141Gln)	LCORL (R141Q)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2338869	NM_001394446.1(LCORL):c.262A>C (p.Lys88Gln)	LCORL (K88Q)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3118148	NM_001394446.1(LCORL):c.193C>G (p.Leu65Val)	LCORL (L65V)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3118150	NM_001394446.1(LCORL):c.69G>C (p.Gln23His)	LCORL, LOC129992313 (Q23H)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2307067	NM_001394446.1(LCORL):c.41C>T (p.Ala14Val)	LCORL, LOC129992313 (A14V)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2362447	NM_001394446.1(LCORL):c.38C>T (p.Ala13Val)	LCORL, LOC129992313 (A13V)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2257461	NM_001394446.1(LCORL):c.4G>A (p.Asp2Asn)	LCORL, LOC129992313 (D2N)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3062787	GRCh37/hg19 4p15.31(chr4:17802069-17853043)x1	DCAF16, LCORL +1 more	Copy number loss	not specified	GUncertain significance
Select item 3062783	GRCh37/hg19 4p16.3-15.31(chr4:68345-19103550)x1	ABLIM2, ACOX3 +140 more	Copy number loss	not specified	GPathogenic
Select item 3062759	GRCh37/hg19 4p16.3-15.31(chr4:68345-21143236)x1	ABLIM2, ACOX3 +143 more	Copy number loss	not specified	GPathogenic
Select item 3062750	GRCh37/hg19 4p16.3-11(chr4:68345-49089361)x3	ABLIM2, ACOX3 +226 more	Copy number gain	not specified	GPathogenic
Select item 2685107	GRCh37/hg19 4p15.33-15.2(chr4:12238766-23083496)x1	ADGRA3, BOD1L1 +26 more	Copy number loss	not provided	GLikely pathogenic
Select item 2583027	GRCh37/hg19 4p15.32-15.31(chr4:17488754-17974508)x3	CLRN2, DCAF16 +6 more	Copy number gain	not provided	GUncertain significance
Select item 2574695	GRCh37/hg19 4p16.3-15.1(chr4:68345-34512694)	RNF212, RNF4 +162 more	Copy number gain	4p16.3 microduplication syndrome	GPathogenic
Select item 1809003	GRCh37/hg19 4p15.32-15.2(chr4:16249194-24864955)x1	ADGRA3, CCDC149 +16 more	Copy number loss	not provided	GUncertain significance
Select item 1711164	GRCh37/hg19 4p16.3-11(chr4:68345-49089361)x3	ABLIM2, ACOX3 +226 more	Copy number gain	See cases	GPathogenic
Select item 1707444	GRCh37/hg19 4p16.3-15.31(chr4:68345-20964575)x1	ABLIM2, ACOX3 +143 more	Copy number loss	See cases	GPathogenic
Select item 1704651	GRCh37/hg19 4p16.3-12(chr4:114784-47569569)x3	ABLIM2, ACOX3 +212 more	Copy number gain	FETAL DEMISE	GPathogenic
Select item 1341071	GRCh37/hg19 4p16.3-15.31(chr4:68345-20587167)x1	HGFAC, UVSSA +141 more	Copy number loss	not provided	GPathogenic
Select item 1180546	GRCh37/hg19 4p16.3-15.1(chr4:69671-29702595)x3	FGFBP2, SMIM20 +161 more	Copy number gain	not provided	GPathogenic
Select item 1180545	GRCh37/hg19 4p16.3-15.31(chr4:68598-18912995)x1	RGS12, RNF212 +140 more	Copy number loss	not provided	GPathogenic
Select item 929396	GRCh37/hg19 4p16.3-11(chr4:49450-49620898)x3	KLF3, KLHL5 +226 more	Copy number gain	See cases	GPathogenic
Select item 816497	GRCh37/hg19 4p16.3-15.2(chr4:49450-24280482)x1	ADD1, ABLIM2 +146 more	Copy number loss	See cases	GPathogenic
Select item 814520	GRCh37/hg19 4p16.3-15.2(chr4:68345-27423424)x3	ABLIM2, ACOX3 +161 more	Copy number gain	not provided	GPathogenic
Select item 809719	GRCh37/hg19 4p15.33-15.2(chr4:13529798-22750583)x1	ADGRA3, BOD1L1 +25 more	Copy number loss	not provided	GUncertain significance
Select item 625699	GRCh37/hg19 4p15.33-15.1(chr4:12778849-27760141)	ADGRA3, ANAPC4 +42 more	Copy number loss	not provided	GPathogenic
Select item 562884	GRCh37/hg19 4p16.3-15.1(chr4:4165334-33324781)x1	ABLIM2, ACOX3 +108 more	Copy number loss	not provided	GPathogenic
Select item 562874	GRCh37/hg19 4p16.3-11(chr4:68345-49089361)x3	GABRA2, GABRA4 +226 more	Copy number gain	not provided	GPathogenic
Select item 441812	GRCh37/hg19 4p16.3-q13.1(chr4:68345-66440622)x3	HTRA3, HTT +267 more	Copy number gain	See cases	GPathogenic
Select item 441728	GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)	C4orf51, CABS1 +745 more	Copy number gain	See cases	GPathogenic
Select item 441727	GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)x3	NAA11, NAA15 +745 more	Copy number gain	See cases	GPathogenic
Select item 394609	GRCh37/hg19 4p16.3-q35.2(chr4:12440-190904441)x3	HELT, HERC3 +744 more	Copy number gain	See cases	GPathogenic
Select item 253503	GRCh37/hg19 4p16.3-11(chr4:12440-49064044)x3	ABLIM2, ACOX3 +226 more	Copy number gain	See cases	GPathogenic
Select item 253431	GRCh37/hg19 4p16.3-15.1(chr4:71552-29006745)x1	BOD1L1, LDB2 +161 more	Copy number loss	See cases	GPathogenic
Select item 253400	GRCh37/hg19 4p16.1-15.31(chr4:6447048-20490737)x3	LAP3, CC2D2A +71 more	Copy number gain	See cases	GPathogenic
Select item 219020	GRCh37/hg19 4p16.3-15.31(chr4:44020-19796182)x1	C4orf50, EVC +140 more	Copy number loss	See cases	GPathogenic

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Items: 73