ClinVar for Gene (Select 80218) - ClinVar

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Links from Gene

Items: 39

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3171724	NM_025146.4(NAA50):c.469C>T (p.Pro157Ser)	NAA50 (P156S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3171716	NM_025146.4(NAA50):c.212G>C (p.Arg71Thr)	NAA50 (R70T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3171711	NM_025146.4(NAA50):c.155A>G (p.Asn52Ser)	NAA50 (N52S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3041325	NM_025146.4(NAA50):c.231A>G (p.Leu77=)	NAA50	Single nucleotide variant (synonymous variant)	NAA50-related disorder	GBenign
Select item 3038008	NM_025146.4(NAA50):c.267A>G (p.Gly89=)	NAA50	Single nucleotide variant (synonymous variant)	NAA50-related disorder	GBenign
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 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 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 2471918	NM_025146.4(NAA50):c.470C>T (p.Pro157Leu)	NAA50 (P157L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2423902	NC_000003.11:g.(?_113010404)_(114099634_?)del	ATP6V1A, CCDC191 +12 more	Deletion	not provided	GPathogenic
Select item 2271652	NM_025146.4(NAA50):c.458A>T (p.Asn153Ile)	NAA50 (N153I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2264180	NM_025146.4(NAA50):c.264A>G (p.Ile88Met)	NAA50 (I87M +1 more)	Single nucleotide variant (missense variant)	not specified	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 929399	GRCh37/hg19 3q13.2-13.32(chr3:113233952-118525556)x1	ATP6V1A, CCDC191 +13 more	Copy number loss	See cases	GPathogenic
Select item 716307	NM_025146.4(NAA50):c.145+8A>G	NAA50	Single nucleotide variant (intron variant)	not provided	GBenign
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 443681	GRCh37/hg19 3q13.2-13.31(chr3:112590339-116461450)x1	ATP6V1A, BOC +18 more	Copy number loss	See cases	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
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 154258	GRCh38/hg38 3q11.1-24(chr3:93800620-145695381)x3	PDIA5, PHLDB2 +1344 more	Copy number gain	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 150138	GRCh38/hg38 3q13.2-21.3(chr3:112620977-128734134)x1	LOC129937460, LOC129937461 +571 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 149128	GRCh38/hg38 3q11.2-13.31(chr3:97795369-115663349)x1	ABHD10, ABI3BP +398 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 145994	GRCh38/hg38 3q11.1-13.31(chr3:93819623-116887056)x1	ABHD10, ABI3BP +431 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 57805	GRCh38/hg38 3q13.2-13.31(chr3:112479482-115774102)x1	ATG3, ATP6V1A +105 more	Copy number loss	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 57803	GRCh38/hg38 3q11.1-21.1(chr3:93886671-123216683)x1	TRAT1, TRMT10C +638 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

ClinVar

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Links from Gene

Items: 39