PACRGL[gene] - ClinVar

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Items: 58

	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 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 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 153633	GRCh38/hg38 4p15.31(chr4:19186844-20838471)x1	KCNIP4, LOC105374511 +13 more	Copy number loss	See cases	GUncertain significance
Select item 3207886	NM_001258345.3(PACRGL):c.11C>T (p.Ser4Leu)	PACRGL (S4L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3303885	NM_001258345.3(PACRGL):c.38A>C (p.Lys13Thr)	PACRGL (K13T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2264186	NM_001258345.3(PACRGL):c.70A>C (p.Thr24Pro)	PACRGL (T24P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2522184	NM_001258345.3(PACRGL):c.106G>A (p.Val36Ile)	PACRGL (V36I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2623855	NM_001258345.3(PACRGL):c.109C>A (p.Gln37Lys)	PACRGL (Q37K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2491340	NM_001258345.3(PACRGL):c.116G>A (p.Ser39Asn)	PACRGL (S39N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3207887	NM_001258345.3(PACRGL):c.133A>G (p.Thr45Ala)	PACRGL (T45A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3207888	NM_001258345.3(PACRGL):c.360A>C (p.Leu120Phe)	PACRGL (L120F)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3207889	NM_001258345.3(PACRGL):c.421G>A (p.Glu141Lys)	PACRGL (E88K +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2556880	NM_001258345.3(PACRGL):c.506A>T (p.His169Leu)	PACRGL (H116L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2240892	NM_001258345.3(PACRGL):c.596A>G (p.His199Arg)	PACRGL (H101R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2244159	NM_001258345.3(PACRGL):c.604A>C (p.Thr202Pro)	PACRGL (T149P +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 149260	GRCh38/hg38 4p15.31(chr4:20722810-20936625)x1	KCNIP4, LOC132089113 +1 more	Copy number loss	See cases	GUncertain significance
Select item 2269121	NM_001258345.3(PACRGL):c.721C>A (p.Pro241Thr)	PACRGL (P116T +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3058996	NM_025221.6(KCNIP4):c.429+7T>C	KCNIP4, PACRGL	Single nucleotide variant (intron variant)	KCNIP4-related disorder	GBenign
Select item 2335160	NM_025221.6(KCNIP4):c.410A>G (p.Asn137Ser)	KCNIP4, PACRGL (N112S +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3113310	NM_025221.6(KCNIP4):c.320C>A (p.Thr107Asn)	KCNIP4, PACRGL (T107N +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 784037	NM_025221.6(KCNIP4):c.289-7T>C	KCNIP4, PACRGL	Single nucleotide variant (intron variant)	not provided	GBenign
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 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 1527077	GRCh37/hg19 4p15.31-14(chr4:19892850-37325128)	ADGRA3, ANAPC4 +23 more	Copy number loss	not specified	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 980666	GRCh37/hg19 4p15.31(chr4:20286376-21087147)x3	PACRGL, SLIT2 +1 more	Copy number gain	not provided	GUncertain significance
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 814537	GRCh37/hg19 4p15.31-15.1(chr4:20406475-29134345)x1	ADGRA3, ANAPC4 +19 more	Copy number loss	not provided	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	LAP3, LCORL +25 more	Copy number loss	not provided	GUncertain significance
Select item 625782	GRCh37/hg19 4p15.31-15.2(chr4:19186845-24548281)	ADGRA3, DHX15 +5 more	Copy number loss	4p partial monosomy syndrome	GPathogenic
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)	AADAT, AASDH +745 more	Copy number gain	See cases	GPathogenic
Select item 441727	GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)x3	MRPL1, MSANTD1 +745 more	Copy number gain	See cases	GPathogenic
Select item 394609	GRCh37/hg19 4p16.3-q35.2(chr4:12440-190904441)x3	H2AZ1, HADH +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

ClinVar

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Items: 58