A1BG-AS1[gene] - ClinVar

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Items: 21

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 59117	GRCh38/hg38 19q13.33-13.43(chr19:47929575-58572206)x3	LOC130064933, LOC130064934 +1093 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 146579	GRCh38/hg38 19q13.33-13.43(chr19:50152520-58581203)x3	MIR498, MIR512-1 +782 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
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 153721	GRCh38/hg38 19q13.41-13.43(chr19:52143873-58445521)x3	A1BG, A1BG-AS1 +547 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 153557	GRCh38/hg38 19q13.43(chr19:56353449-58445521)x3	A1BG, A1BG-AS1 +179 more	Copy number gain	See cases	GUncertain significance
Select item 59128	GRCh38/hg38 19q13.43(chr19:56363208-58581203)x3	A1BG, A1BG-AS1 +215 more	Copy number gain	See cases	GPathogenic
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 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 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 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 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 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 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 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 2376061	NM_130786.4(A1BG):c.143C>T (p.Thr48Met)	A1BG-AS1, A1BG (T48M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

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Items: 21