19069[HGNC] - ClinVar

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Items: 67

	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 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 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 2338467	NM_020973.5(GBA3):c.16G>A (p.Gly6Arg)	GBA3 (G6R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2253478	NM_020973.5(GBA3):c.56A>G (p.Glu19Gly)	GBA3 (E19G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2552888	NM_020973.5(GBA3):c.67G>A (p.Asp23Asn)	GBA3 (D23N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2603901	NM_020973.5(GBA3):c.97G>A (p.Asp33Asn)	GBA3 (D33N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2553591	NM_020973.5(GBA3):c.109C>T (p.His37Tyr)	GBA3 (H37Y +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3098834	NM_020973.5(GBA3):c.185A>G (p.Asp62Gly)	GBA3 (D62G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2239932	NM_020973.5(GBA3):c.223C>T (p.Arg75Cys)	GBA3 (R76C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2348710	NM_020973.5(GBA3):c.262A>G (p.Thr88Ala)	GBA3 (T88A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2589947	NM_020973.5(GBA3):c.263C>T (p.Thr88Met)	GBA3 (T89M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2349596	NM_020973.5(GBA3):c.296A>T (p.Tyr99Phe)	GBA3 (Y99F +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2395860	NM_020973.5(GBA3):c.371C>T (p.Pro124Leu)	GBA3 (P124L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2538033	NM_020973.5(GBA3):c.395G>A (p.Gly132Asp)	GBA3 (G133D +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2619405	NM_020973.5(GBA3):c.418G>C (p.Glu140Gln)	GBA3 (E140Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2388384	NM_020973.5(GBA3):c.502G>T (p.Val168Phe)	GBA3 (V168F +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2366909	NM_020973.5(GBA3):c.542C>T (p.Pro181Leu)	GBA3 (P181L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2487290	NM_020973.5(GBA3):c.584A>C (p.His195Pro)	GBA3 (H196P +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2360146	NM_020973.5(GBA3):c.594T>G (p.Ile198Met)	GBA3 (I198M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2206569	NM_020973.5(GBA3):c.643A>G (p.Lys215Glu)	GBA3 (K216E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3098836	NM_020973.5(GBA3):c.677C>T (p.Ala226Val)	GBA3 (A226V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2606815	NM_020973.5(GBA3):c.802G>C (p.Val268Leu)	GBA3 (V268L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2372622	NM_020973.5(GBA3):c.844C>T (p.Pro282Ser)	GBA3 (P283S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2237571	NM_020973.5(GBA3):c.871G>A (p.Glu291Lys)	GBA3 (E292K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2325969	NM_020973.5(GBA3):c.908T>G (p.Phe303Cys)	GBA3 (F303C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2307669	NM_020973.5(GBA3):c.989C>A (p.Ala330Glu)	GBA3 (A330E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2465336	NM_020973.5(GBA3):c.1129C>A (p.Pro377Thr)	GBA3 (P377T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2321383	NM_020973.5(GBA3):c.1132C>A (p.Gln378Lys)	GBA3 (Q379K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2358228	NM_020973.5(GBA3):c.1228A>G (p.Asn410Asp)	GBA3 (N411D +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2484647	NM_020973.5(GBA3):c.1246G>A (p.Ala416Thr)	GBA3 (A417T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2322223	NM_020973.5(GBA3):c.1264A>G (p.Asn422Asp)	GBA3 (N115D +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2203810	NM_020973.5(GBA3):c.1312G>A (p.Val438Ile)	GBA3 (V439I +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3098832	NM_020973.5(GBA3):c.1355C>T (p.Ser452Leu)	GBA3 (S452L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3098833	NM_020973.5(GBA3):c.1382G>A (p.Arg461Gln)	GBA3 (R462Q +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
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)	ABLIM2, ACOX3 +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 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	CRMP1, RNF212 +161 more	Copy number gain	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 814539	GRCh37/hg19 4p15.2(chr4:22737392-23433692)x3	GBA3	Copy number gain	not provided	GLikely benign
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	DCAF16, LAP3 +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 562901	GRCh37/hg19 4p15.2(chr4:22488952-22757107)x4	ADGRA3, GBA3	Copy number gain	not provided	GLikely benign
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

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Items: 67