ClinVar for Gene (Select 1) - ClinVar

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Links from Gene

Items: 46

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2650587	NM_130786.4(A1BG):c.1120T>C (p.Cys374Arg)	A1BG (C374R)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2623749	NM_130786.4(A1BG):c.1123G>A (p.Val375Ile)	A1BG (V375I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2598597	NM_130786.4(A1BG):c.604G>A (p.Glu202Lys)	A1BG, A1BG-AS1 (E202K)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2595452	NM_130786.4(A1BG):c.991G>T (p.Gly331Cys)	A1BG (G331C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2554965	NM_130786.4(A1BG):c.1020C>G (p.Asp340Glu)	A1BG (D340E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2552144	NM_130786.4(A1BG):c.1311G>C (p.Glu437Asp)	A1BG (E437D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2540673	NM_130786.4(A1BG):c.952G>A (p.Gly318Ser)	A1BG (G318S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2536318	NM_130786.4(A1BG):c.703C>A (p.Pro235Thr)	A1BG (P235T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2521649	NM_130786.4(A1BG):c.1317G>C (p.Glu439Asp)	A1BG (E439D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2513094	NM_130786.4(A1BG):c.1069G>A (p.Ala357Thr)	A1BG (A357T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2494312	NM_130786.4(A1BG):c.248T>A (p.Leu83Gln)	A1BG, A1BG-AS1 (L83Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2484196	NM_130786.4(A1BG):c.1276C>T (p.Pro426Ser)	A1BG (P426S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2484083	NM_130786.4(A1BG):c.204G>T (p.Glu68Asp)	A1BG, A1BG-AS1 (E68D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2476496	NM_130786.4(A1BG):c.818A>G (p.Asp273Gly)	A1BG (D273G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2402088	NM_130786.4(A1BG):c.833C>A (p.Thr278Asn)	A1BG (T278N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2376061	NM_130786.4(A1BG):c.143C>T (p.Thr48Met)	A1BG-AS1, A1BG (T48M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2372449	NM_130786.4(A1BG):c.938C>T (p.Pro313Leu)	A1BG (P313L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2337628	NM_130786.4(A1BG):c.877G>A (p.Asp293Asn)	A1BG (D293N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2336128	NM_130786.4(A1BG):c.1417C>G (p.Arg473Gly)	A1BG (R473G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2333904	NM_130786.4(A1BG):c.455G>A (p.Arg152Gln)	A1BG, A1BG-AS1 (R152Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2331049	NM_130786.4(A1BG):c.397C>G (p.Leu133Val)	A1BG, A1BG-AS1 (L133V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2324062	NM_130786.4(A1BG):c.988G>A (p.Glu330Lys)	A1BG (E330K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2306103	NM_130786.4(A1BG):c.1070C>A (p.Ala357Glu)	A1BG (A357E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2305374	NM_130786.4(A1BG):c.515T>C (p.Phe172Ser)	A1BG, A1BG-AS1 (F172S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2301012	NM_130786.4(A1BG):c.174C>A (p.Phe58Leu)	A1BG-AS1, A1BG (F58L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2282528	NM_130786.4(A1BG):c.736G>A (p.Gly246Arg)	A1BG (G246R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2273622	NM_130786.4(A1BG):c.260C>T (p.Thr87Ile)	A1BG, A1BG-AS1 (T87I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2215333	NM_130786.4(A1BG):c.528G>C (p.Gln176His)	A1BG, A1BG-AS1 (Q176H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2211717	NM_130786.4(A1BG):c.998G>C (p.Arg333Pro)	A1BG (R333P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 979556	GRCh37/hg19 19q13.43(chr19:58687912-58946147)x3	ZNF132, A1BG +8 more	Copy number gain	not provided	GUncertain significance
Select item 443499	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)	A1BG, ABCA7 +1364 more	Copy number gain	See cases	GPathogenic
Select item 443498	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3	LILRA4, LILRA5 +1364 more	Copy number gain	See cases	GPathogenic
Select item 442403	GRCh37/hg19 19q13.43(chr19:56706500-58956888)x3	A1BG, AURKC +64 more	Copy number gain	See cases	GUncertain significance
Select item 394342	GRCh37/hg19 19q13.33-13.43(chr19:50489390-59095359)x3	A1BG, ACP4 +280 more	Copy number gain	See cases	GPathogenic
Select item 253827	GRCh37/hg19 19q13.43(chr19:58458999-58929684)x3	ZNF329, ZNF135 +14 more	Copy number gain	See cases	GUncertain significance
Select item 153721	GRCh38/hg38 19q13.41-13.43(chr19:52143873-58445521)x3	A1BG, A1BG-AS1 +547 more	Copy number gain	See cases	GPathogenic
Select item 153557	GRCh38/hg38 19q13.43(chr19:56353449-58445521)x3	A1BG, A1BG-AS1 +179 more	Copy number gain	See cases	GUncertain significance
Select item 146579	GRCh38/hg38 19q13.33-13.43(chr19:50152520-58581203)x3	MIR498, MIR512-1 +782 more	Copy number gain	See cases	GPathogenic
Select item 144762	GRCh38/hg38 19q13.41-13.43(chr19:52612432-58581203)x3	A1BG, A1BG-AS1 +553 more	Copy number gain	See cases	GPathogenic
Select item 144709	GRCh38/hg38 19q13.41-13.43(chr19:52955056-58581203)x3	LOC130065086, LOC130065087 +537 more	Copy number gain	See cases	GPathogenic
Select item 59128	GRCh38/hg38 19q13.43(chr19:56363208-58581203)x3	A1BG, A1BG-AS1 +215 more	Copy number gain	See cases	GPathogenic
Select item 59127	GRCh38/hg38 19q13.41-13.43(chr19:51141518-58539965)x3	A1BG, A1BG-AS1 +647 more	Copy number gain	See cases	GPathogenic
Select item 59126	GRCh38/hg38 19q13.33-13.43(chr19:49907832-58557889)x3	LOC113939975, LOC116286194 +806 more	Copy number gain	See cases	GPathogenic
Select item 59117	GRCh38/hg38 19q13.33-13.43(chr19:47929575-58572206)x3	LOC130064933, LOC130064934 +1093 more	Copy number gain	See cases	GPathogenic
Select item 59116	GRCh38/hg38 19q13.33-13.43(chr19:47908540-58539965)x3	ZBTB45, ZFP28 +1081 more	Copy number gain	See cases	GPathogenic
Select item 57219	GRCh38/hg38 19q13.33-13.43(chr19:50191219-58535818)x3	LOC130065070, LOC130065071 +761 more	Copy number gain	See cases	GPathogenic

ClinVar

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Links from Gene

Items: 46