18449[HGNC] - ClinVar

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Search results

Items: 79

	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 147969	GRCh38/hg38 4p16.3-15.31(chr4:51519-17798196)x3	ABLIM2, ACOX3 +674 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 3117790	NM_015907.3(LAP3):c.10C>A (p.Leu4Met)	LAP3, LOC129992307 (L4M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3290100	NM_015907.3(LAP3):c.16C>T (p.Leu6Phe)	LAP3 (L6F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2319927	NM_015907.3(LAP3):c.43C>G (p.Arg15Gly)	LAP3 (R15G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2600570	NM_015907.3(LAP3):c.55G>T (p.Val19Leu)	LAP3 (V19L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2238760	NM_015907.3(LAP3):c.61C>T (p.Arg21Cys)	LAP3 (R21C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2270547	NM_015907.3(LAP3):c.95T>G (p.Met32Arg)	LAP3, LOC129992308 (M32R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2321231	NM_015907.3(LAP3):c.119T>C (p.Ile40Thr)	LAP3 (I40T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3117796	NM_015907.3(LAP3):c.338A>C (p.Asn113Thr)	LAP3 (N113T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2373746	NM_015907.3(LAP3):c.521C>T (p.Ser174Leu)	LAP3, LOC126806994 (S174L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2394299	NM_015907.3(LAP3):c.536G>A (p.Gly179Glu)	LAP3, LOC126806994 (G179E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3117798	NM_015907.3(LAP3):c.643T>A (p.Phe215Ile)	LAP3 (F215I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2342375	NM_015907.3(LAP3):c.649G>A (p.Glu217Lys)	LAP3 (E217K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2598785	NM_015907.3(LAP3):c.671A>G (p.Lys224Arg)	LAP3 (K224R)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2345963	NM_015907.3(LAP3):c.679A>G (p.Ser227Gly)	LAP3 (S227G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3117799	NM_015907.3(LAP3):c.683G>A (p.Ser228Asn)	LAP3 (S228N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2352306	NM_015907.3(LAP3):c.730G>A (p.Ala244Thr)	LAP3, MED28-DT (A244T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2560084	NM_015907.3(LAP3):c.736G>A (p.Gly246Arg)	LAP3, MED28-DT (G246R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3117801	NM_015907.3(LAP3):c.986T>C (p.Ile329Thr)	LAP3, MED28-DT (I329T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2216630	NM_015907.3(LAP3):c.1021G>A (p.Gly341Ser)	LAP3, MED28-DT (G341S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3117792	NM_015907.3(LAP3):c.1151A>C (p.Lys384Thr)	LAP3, MED28-DT (K384T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3117793	NM_015907.3(LAP3):c.1160T>A (p.Leu387His)	LAP3, MED28-DT (L387H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2273407	NM_015907.3(LAP3):c.1181G>A (p.Gly394Asp)	LAP3, MED28-DT (G394D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3290099	NM_015907.3(LAP3):c.1188G>A (p.Met396Ile)	LAP3, MED28-DT (M396I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2379992	NM_015907.3(LAP3):c.1244G>C (p.Trp415Ser)	LAP3, MED28-DT (W415S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3117794	NM_015907.3(LAP3):c.1245G>T (p.Trp415Cys)	LAP3, MED28-DT (W415C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3290101	NM_015907.3(LAP3):c.1250A>T (p.Lys417Ile)	LAP3, MED28-DT (K417I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2598279	NM_015907.3(LAP3):c.1378G>A (p.Gly460Arg)	LAP3, MED28-DT (G460R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3117795	NM_015907.3(LAP3):c.1382C>A (p.Ala461Glu)	LAP3, MED28-DT (A461E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2454427	NM_015907.3(LAP3):c.1527G>T (p.Glu509Asp)	LAP3, MED28-DT (E509D)	Single nucleotide variant (missense variant)	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 1527076	GRCh37/hg19 4p15.32-15.31(chr4:16826659-17818949)	CLRN2, DCAF16 +6 more	Copy number gain	not specified	GUncertain significance
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 814536	GRCh37/hg19 4p15.32-15.31(chr4:16826786-17818949)x3	CLRN2, DCAF16 +6 more	Copy number gain	not provided	GLikely benign
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 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 503587	GRCh37/hg19 4p15.32-15.31(chr4:16834640-17818885)x3	CLRN2, DCAF16 +6 more	Copy number gain	See cases	GUncertain significance
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 253400	GRCh37/hg19 4p16.1-15.31(chr4:6447048-20490737)x3	LAP3, CC2D2A +71 more	Copy number gain	See cases	GPathogenic
Select item 226163	GRCh37/hg19 4p15.32-15.31(chr4:16922258-17800667)	QDPR, FAM184B +3 more	Copy number gain	Abnormal esophagus morphology	GLikely benign
Select item 219020	GRCh37/hg19 4p16.3-15.31(chr4:44020-19796182)x1	C4orf50, EVC +140 more	Copy number loss	See cases	GPathogenic
Select item 202218	GRCh37/hg19 4p15.32-15.31(chr4:16830399-17805183)x3	LDB2, MED28 +5 more	Copy number gain	See cases	GUncertain significance

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Items: 79