Related gene-specific medical variations for Gene (Select 1) - ClinVar - NCBI

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Items: 15

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3267734	NM_130786.4(A1BG):c.275G>A (p.Arg92His)	A1BG, A1BG-AS1 (R92H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3122620	NM_130786.4(A1BG):c.480G>C (p.Glu160Asp)	A1BG, A1BG-AS1 (E160D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3117133	NM_130786.4(A1BG):c.431G>A (p.Arg144Gln)	A1BG, A1BG-AS1 (R144Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3111445	NM_130786.4(A1BG):c.392C>A (p.Pro131His)	A1BG, A1BG-AS1 (P131H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3108519	NM_130786.4(A1BG):c.305C>G (p.Thr102Ser)	A1BG, A1BG-AS1 (T102S)	Single nucleotide variant (missense variant +1 more)	not specified	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)	not specified	GLikely benign
Select item 2494312	NM_130786.4(A1BG):c.248T>A (p.Leu83Gln)	A1BG, A1BG-AS1 (L83Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2484083	NM_130786.4(A1BG):c.204G>T (p.Glu68Asp)	A1BG, A1BG-AS1 (E68D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2376061	NM_130786.4(A1BG):c.143C>T (p.Thr48Met)	A1BG, A1BG-AS1 (T48M)	Single nucleotide variant (missense variant)	not specified	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)	not specified	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)	not specified	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)	not specified	GUncertain significance
Select item 2301012	NM_130786.4(A1BG):c.174C>A (p.Phe58Leu)	A1BG, A1BG-AS1 (F58L)	Single nucleotide variant (missense variant)	not specified	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)	not specified	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)	not specified	GUncertain significance