GARNL3[gene] - ClinVar

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Items: 67

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 160862	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC130001537, LOC130001538 +3785 more	Copy number gain	See cases	GPathogenic
Select item 150340	GRCh38/hg38 9p11.2-q34.3(chr9:193412-138159073)x3	LOC130002976, LOC130002977 +3784 more	Copy number gain	See cases	GPathogenic
Select item 150050	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138159073)x3	LOC130001468, LOC130001469 +3785 more	Copy number gain	See cases	GPathogenic
Select item 149828	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124524)x3	DNAJB5, DNAJB5-DT +3785 more	Copy number gain	See cases	GPathogenic
Select item 59875	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138114463)x3	LOC114827838, LOC116186936 +3785 more	Copy number gain	See cases	GPathogenic
Select item 33205	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC124252641, LOC124252642 +3785 more	Copy number gain	See cases	GPathogenic
Select item 153518	GRCh38/hg38 9p24.3-q34.3(chr9:203861-138125937)x3	LOC114022701, LOC114022702 +3785 more	Copy number gain	See cases	GPathogenic
Select item 155409	GRCh38/hg38 9p24.3-q34.3(chr9:203862-138125937)x3	ABCA1, ABCA2 +3785 more	Copy number gain	See cases	GPathogenic
Select item 144309	GRCh38/hg38 9p24.3-q34.3(chr9:204193-138179445)	LOC110120726, LOC110120727 +3785 more	Copy number gain	See cases	GPathogenic
Select item 145579	GRCh38/hg38 9q33.2-34.3(chr9:121073102-138179445)x3	LOC130002527, LOC130002528 +1272 more	Copy number gain	See cases	GPathogenic
Select item 57324	GRCh38/hg38 9q33.2-34.3(chr9:121112395-138075224)x3	ABCA2, ABL1 +1268 more	Copy number gain	See cases	GPathogenic
Select item 57353	GRCh38/hg38 9q33.2-34.3(chr9:122792658-138124532)x3	LOC130003109, LOC130003110 +1210 more	Copy number gain	See cases	GPathogenic
Select item 148721	GRCh38/hg38 9q33.3-34.11(chr9:125055865-128637946)x1	AK1, ANGPTL2 +250 more	Copy number loss	See cases	GPathogenic
Select item 59125	GRCh38/hg38 9q33.3-34.11(chr9:125993583-129682375)x1	AK1, ANGPTL2 +309 more	Copy number loss	See cases	GPathogenic
Select item 57204	GRCh38/hg38 9q33.3-34.11(chr9:126081595-127781685)x1	ANGPTL2, CFAP157 +93 more	Copy number loss	See cases	GPathogenic
Select item 3098544	NM_032293.5(GARNL3):c.50T>C (p.Ile17Thr)	GARNL3 (I17T)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2406320	NM_032293.5(GARNL3):c.86A>C (p.Glu29Ala)	GARNL3 (E7A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2291688	NM_032293.5(GARNL3):c.403G>A (p.Val135Ile)	GARNL3 (V113I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2548772	NM_032293.5(GARNL3):c.421A>G (p.Ile141Val)	GARNL3 (I141V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2321080	NM_032293.5(GARNL3):c.440G>A (p.Gly147Asp)	GARNL3 (G125D +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2317808	NM_032293.5(GARNL3):c.749G>A (p.Arg250His)	GARNL3, LOC126860769 (R228H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 996581	NM_032293.5(GARNL3):c.869A>G (p.Gln290Arg)	GARNL3 (Q268R +1 more)	Single nucleotide variant (missense variant +1 more)	Intellectual disability	GLikely pathogenic
Select item 2290635	NM_032293.5(GARNL3):c.1082C>T (p.Thr361Ile)	GARNL3 (T361I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2257194	NM_032293.5(GARNL3):c.1178C>G (p.Ala393Gly)	GARNL3 (A371G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2249533	NM_032293.5(GARNL3):c.1243T>A (p.Leu415Met)	GARNL3 (L393M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2551493	NM_032293.5(GARNL3):c.1328G>A (p.Arg443His)	GARNL3 (R421H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2336096	NM_032293.5(GARNL3):c.1433C>T (p.Pro478Leu)	GARNL3 (P456L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2312806	NM_032293.5(GARNL3):c.1597C>T (p.His533Tyr)	GARNL3 (H511Y +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2523756	NM_032293.5(GARNL3):c.1720A>G (p.Arg574Gly)	GARNL3 (R552G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3098537	NM_032293.5(GARNL3):c.1909C>T (p.Pro637Ser)	GARNL3 (P637S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3098539	NM_032293.5(GARNL3):c.2023C>G (p.Arg675Gly)	GARNL3 (R653G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2592073	NM_032293.5(GARNL3):c.2171T>A (p.Ile724Asn)	GARNL3 (I724N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2209276	NM_032293.5(GARNL3):c.2260T>C (p.Tyr754His)	GARNL3 (Y732H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2318240	NM_032293.5(GARNL3):c.2261A>G (p.Tyr754Cys)	GARNL3 (Y754C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2609440	NM_032293.5(GARNL3):c.2303C>T (p.Thr768Ile)	GARNL3 (T746I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2599658	NM_032293.5(GARNL3):c.2363C>T (p.Pro788Leu)	GARNL3 (P788L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2398715	NM_032293.5(GARNL3):c.2395A>G (p.Ile799Val)	GARNL3 (I777V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2543218	NM_032293.5(GARNL3):c.2425G>A (p.Glu809Lys)	GARNL3 (E787K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2206779	NM_032293.5(GARNL3):c.2492G>A (p.Arg831Gln)	GARNL3 (R809Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3098540	NM_032293.5(GARNL3):c.2534T>G (p.Ile845Ser)	GARNL3 (I823S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2401779	NM_032293.5(GARNL3):c.2615T>A (p.Val872Asp)	GARNL3 (V872D +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3098541	NM_032293.5(GARNL3):c.2675C>T (p.Thr892Met)	GARNL3 (T870M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2532603	NM_032293.5(GARNL3):c.2690T>C (p.Leu897Pro)	GARNL3 (L875P +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3098542	NM_032293.5(GARNL3):c.2803C>T (p.Arg935Trp)	GARNL3 (R935W +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3098543	NM_032293.5(GARNL3):c.2871G>A (p.Arg957=)	GARNL3	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 2539217	NM_032293.5(GARNL3):c.2892A>C (p.Glu964Asp)	GARNL3 (E942D +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2591343	NM_032293.5(GARNL3):c.2973C>G (p.Ser991Arg)	GARNL3 (S991R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2271042	NM_032293.5(GARNL3):c.2980T>C (p.Ser994Pro)	GARNL3 (S972P +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2559403	NM_032293.5(GARNL3):c.2997C>G (p.Phe999Leu)	GARNL3 (F999L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3063071	GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020389)x3	ABCA1, ABCA2 +769 more	Copy number gain	not specified	GPathogenic
Select item 1711101	GRCh37/hg19 9p24.3-q34.11(chr9:203861-131603223)x3	ANKS6, ANP32B +596 more	Copy number gain	See cases	GPathogenic
Select item 1527560	GRCh37/hg19 9q33.3-34.11(chr9:129079208-130851795)	AK1, ANGPTL2 +29 more	Copy number loss	not specified	GPathogenic
Select item 1527545	GRCh37/hg19 9q32-34.11(chr9:116422275-131713233)	ADGRD2, AK1 +141 more	Copy number gain	not specified	GPathogenic
Select item 1527491	GRCh37/hg19 9p24.3-q34.3(chr9:353349-141020389)	OR1L4, PTRH1 +768 more	Copy number gain	not specified	GPathogenic
Select item 1340206	GRCh37/hg19 9q33.3-34.11(chr9:128523763-132604808)x3	AK1, ANGPTL2 +75 more	Copy number gain	not provided	GPathogenic
Select item 1056169	NC_000009.11:g.(?_129376729)_(131016993_?)del	AK1, EEIG1 +33 more	Deletion	Early infantile epileptic encephalopathy with suppression bursts	GPathogenic
Select item 983307	GRCh37/hg19 9q33.3-34.11(chr9:128512347-130702572)x1	AK1, ANGPTL2 +27 more	Copy number loss	Developmental and epileptic encephalopathy, 4 +1 more	GPathogenic
Select item 688971	GRCh37/hg19 9q33.3(chr9:129942532-130125184)x3	GARNL3, RALGPS1	Copy number gain	not provided	GUncertain significance
Select item 687100	GRCh37/hg19 9q21.11-34.3(chr9:71416475-141020389)x3	ABCA1, ABCA2 +552 more	Copy number gain	not provided	GPathogenic
Select item 685192	GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020388)x3	ABCA1, ABCA2 +769 more	Copy number gain	not provided	GPathogenic
Select item 563619	GRCh37/hg19 9q33.3-34.11(chr9:130000337-130310336)x3	GARNL3, ZNF79 +4 more	Copy number gain	not provided	GLikely benign
Select item 523294	GRCh37/hg19 9q21.11-34.3(chr9:71069743-140999928)	SEC16A, SEC61B +553 more	Copy number gain	Hypotonia +2 more	GLikely pathogenic
Select item 443986	GRCh37/hg19 9p24.3-q34.3(chr9:203862-141020389)	ABCA1, ABCA2 +769 more	Copy number gain	See cases	GPathogenic
Select item 395707	GRCh37/hg19 9p24.3-q34.3(chr9:62525-141006407)	UBQLN1, UCK1 +771 more	Copy number gain	See cases	GPathogenic
Select item 395356	GRCh37/hg19 9q33.3-34.3(chr9:128652785-141044751)x3	ABCA2, ABL1 +228 more	Copy number gain	See cases	GPathogenic
Select item 394948	GRCh37/hg19 9q33.2-34.3(chr9:124642754-141146461)x3	OR1L8, OR1N1 +279 more	Copy number gain	See cases	GPathogenic
Select item 253402	GRCh37/hg19 9p24.3-q34.3(chr9:163131-141122114)x3	ANGPTL2, ANKRD18A +771 more	Copy number gain	See cases	GPathogenic

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Items: 67