ClinVar for Gene (Select 133015) - ClinVar

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

Links from Gene

Items: 58

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 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 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 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 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 3058996	NM_025221.6(KCNIP4):c.429+7T>C	KCNIP4, PACRGL	Single nucleotide variant (intron variant)	KCNIP4-related disorder	GBenign
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 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 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 2579172	GRCh38/hg38 4p16.3-11(chr4:1-49062177)x3	LOC123477714, LOC123477715 +1267 more	Copy number gain	Neurodevelopmental disorder	GPathogenic
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 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 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 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 2445987	GRCh38/hg38 4p15.33-14(chr4:11399082-38137335)	FGFBP1, LOC126806998 +393 more	Copy number loss	4p partial monosomy syndrome	GPathogenic
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 2269121	NM_001258345.3(PACRGL):c.721C>A (p.Pro241Thr)	PACRGL (P116T +3 more)	Single nucleotide variant (non-coding transcript variant +2 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 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 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 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	CPEB2, ADGRA3 +25 more	Copy number loss	not provided	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 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
Select item 153633	GRCh38/hg38 4p15.31(chr4:19186844-20838471)x1	KCNIP4, LOC105374511 +13 more	Copy number loss	See cases	GUncertain significance
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 149260	GRCh38/hg38 4p15.31(chr4:20722810-20936625)x1	KCNIP4, LOC132089113 +1 more	Copy number loss	See cases	GUncertain significance
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 148186	GRCh38/hg38 4p16.3-12(chr4:36424-47491595)x3	LOC129992145, LOC129992146 +1209 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 144195	GRCh38/hg38 4p16.3-14(chr4:72555-39477144)x3	ABLIM2, ACOX3 +1039 more	Copy number gain	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 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

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: 58