20962[HGNC] - ClinVar

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Items: 41

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154258	GRCh38/hg38 3q11.1-24(chr3:93800620-145695381)x3	PDIA5, PHLDB2 +1344 more	Copy number gain	See cases	GPathogenic
Select item 145994	GRCh38/hg38 3q11.1-13.31(chr3:93819623-116887056)x1	ABHD10, ABI3BP +431 more	Copy number loss	See cases	GPathogenic
Select item 57803	GRCh38/hg38 3q11.1-21.1(chr3:93886671-123216683)x1	TRAT1, TRMT10C +638 more	Copy number loss	See cases	GPathogenic
Select item 2579175	GRCh38/hg38 3q11.1-21.2(chr3:93979547-124774010)x1	CCDC54-AS1, LOC123002328 +682 more	Copy number loss	Chromosome 3q13.31 deletion syndrome	GPathogenic
Select item 149128	GRCh38/hg38 3q11.2-13.31(chr3:97795369-115663349)x1	ABHD10, ABI3BP +398 more	Copy number loss	See cases	GPathogenic
Select item 145614	GRCh38/hg38 3q13.11-29(chr3:103426882-198110178)x3	LOC115995524, LOC115995525 +2647 more	Copy number gain	See cases	GPathogenic
Select item 57980	GRCh38/hg38 3q13.11-13.31(chr3:104621220-116093884)x3	LOC132088858, LOC132088860 +248 more	Copy number gain	See cases	GPathogenic
Select item 57804	GRCh38/hg38 3q13.13-13.31(chr3:108242572-116169331)x1	ABHD10, ATG3 +186 more	Copy number loss	See cases	GPathogenic
Select item 57131	GRCh38/hg38 3q13.2-13.31(chr3:112168829-117393356)x1	LOC129937247, LOC129937248 +127 more	Copy number loss	See cases	GPathogenic
Select item 154065	GRCh38/hg38 3q13.2-13.31(chr3:112425234-115795585)x1	ATG3, ATP6V1A +106 more	Copy number loss	See cases	GPathogenic
Select item 149415	GRCh38/hg38 3q13.2-13.31(chr3:112465094-115774111)x1	GAP43, GRAMD1C +105 more	Copy number loss	See cases	GPathogenic
Select item 146287	GRCh38/hg38 3q13.2-13.31(chr3:112465096-115774102)x1	LOC129937275, LOC129937276 +105 more	Copy number loss	See cases	GLikely pathogenic
Select item 57805	GRCh38/hg38 3q13.2-13.31(chr3:112479482-115774102)x1	ATG3, ATP6V1A +105 more	Copy number loss	See cases	GPathogenic
Select item 154658	GRCh38/hg38 3q13.2-13.33(chr3:112520553-120031022)x1	ADPRH, ARHGAP31 +191 more	Copy number loss	See cases	GPathogenic
Select item 2457948	NM_022488.5(ATG3):c.836A>C (p.Glu279Ala)	ATG3 (E279A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2545777	NM_022488.5(ATG3):c.804G>C (p.Glu268Asp)	ATG3 (E268D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3321195	NM_022488.5(ATG3):c.769C>G (p.Pro257Ala)	ATG3 (P257A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3321205	NM_022488.5(ATG3):c.508G>A (p.Glu170Lys)	ATG3 (E170K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2359028	NM_022488.5(ATG3):c.303T>A (p.Asp101Glu)	ATG3 (D101E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3130985	NM_022488.5(ATG3):c.286G>A (p.Ala96Thr)	ATG3 (A96T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2275193	NM_022488.5(ATG3):c.284A>G (p.Glu95Gly)	ATG3 (E95G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3321209	NM_022488.5(ATG3):c.250C>T (p.Arg84Trp)	ATG3 (R84W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2610463	NM_022488.5(ATG3):c.196T>C (p.Tyr66His)	ATG3 (Y66H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2390248	NM_022488.5(ATG3):c.193G>A (p.Ala65Thr)	ATG3 (A65T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2613240	NM_022488.5(ATG3):c.157T>C (p.Trp53Arg)	ATG3 (W53R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2685929	GRCh37/hg19 3q13.2(chr3:111845309-112880225)x3	ATG3, BTLA +9 more	Copy number gain	not provided	GUncertain significance
Select item 2685090	GRCh37/hg19 3q13.13-13.31(chr3:110398276-113879363)x1	ABHD10, ATG3 +31 more	Copy number loss	not provided	GUncertain significance
Select item 2498335	GRCh37/hg19 3q13.13-13.31(chr3:110966195-115843176)x1	ABHD10, ATG3 +34 more	Copy number loss	Chromosome 3q13.31 deletion syndrome	GPathogenic
Select item 1809017	GRCh37/hg19 3q13.2(chr3:111919475-112389338)x3	ATG3, BTLA +4 more	Copy number gain	not provided	GUncertain significance
Select item 1807773	GRCh37/hg19 3q13.12-13.31(chr3:107059705-115005256)x1	ABHD10, ATG3 +49 more	Copy number loss	not provided	GPathogenic
Select item 1703653	GRCh37/hg19 3q13.12-13.31(chr3:106598767-115704696)	ABHD10, ATG3 +51 more	Copy number loss	Chromosome 3q13.31 deletion syndrome	GPathogenic
Select item 1527035	GRCh37/hg19 3q13.2-13.31(chr3:112144081-115514432)	ATG3, ATP6V1A +22 more	Copy number loss	not specified	GPathogenic
Select item 980050	GRCh37/hg19 3q13.2-13.31(chr3:112135341-115509260)x3	CD200R1L, CCDC191 +22 more	Copy number gain	not provided	GPathogenic
Select item 686372	GRCh37/hg19 3q13.2(chr3:111929014-112773945)x3	ATG3, BTLA +8 more	Copy number gain	not provided	GUncertain significance
Select item 686136	GRCh37/hg19 3q13.2(chr3:111929014-112773945)x3	ATG3, BTLA +8 more	Copy number gain	not provided	GUncertain significance
Select item 666447	GRCh37/hg19 3q13.2-13.31(chr3:112183943-115492949)x1	BOC, CCDC191 +22 more	Copy number loss	not provided	GPathogenic
Select item 562807	GRCh37/hg19 3q13.2-13.31(chr3:111894832-116930109)x1	ATP6V1A, TIGIT +25 more	Copy number loss	not provided	GPathogenic
Select item 562805	GRCh37/hg19 3q13.13-13.31(chr3:110645295-115103586)x1	ABHD10, ATG3 +34 more	Copy number loss	not provided	GPathogenic
Select item 442401	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3	HHLA2, HIGD1A +1054 more	Copy number gain	See cases	GPathogenic
Select item 442400	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)	A4GNT, AADAC +1054 more	Copy number gain	See cases	GPathogenic
Select item 393800	GRCh37/hg19 3q13.11-13.32(chr3:105094834-117441953)x1	ABHD10, ALCAM +53 more	Copy number loss	See cases	GPathogenic

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Items: 41