"PreventionGenetics, part of Exact Sciences"[submitter] AND "A2M"[gene - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 17

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3058150	NM_000014.6(A2M):c.3494A>G (p.Glu1165Gly)	A2M, KLRG1 (E1015G +2 more)	Single nucleotide variant (missense variant)	A2M-related disorder	GLikely benign
Select item 3046130	NM_000014.6(A2M):c.3485A>G (p.Lys1162Arg)	A2M, KLRG1 (K1012R +2 more)	Single nucleotide variant (missense variant)	A2M-related disorder	GLikely benign
Select item 3057128	NM_000014.6(A2M):c.3277-9T>G	A2M, KLRG1	Single nucleotide variant (intron variant)	A2M-related disorder	GLikely benign
Select item 711716	NM_000014.6(A2M):c.3092G>A (p.Arg1031Gln)	A2M, KLRG1 (R881Q +2 more)	Single nucleotide variant (missense variant)	A2M-related disorder +1 more	GLikely benign
Select item 3048942	NM_000014.6(A2M):c.2812A>G (p.Asn938Asp)	A2M, KLRG1 (N788D +2 more)	Single nucleotide variant (missense variant)	A2M-related disorder	GLikely benign
Select item 3052428	NM_000014.6(A2M):c.2679C>T (p.His893=)	A2M, KLRG1	Single nucleotide variant (synonymous variant)	A2M-related disorder	GLikely benign
Select item 3060838	NM_000014.6(A2M):c.2597-4T>A	A2M, KLRG1	Single nucleotide variant (intron variant)	A2M-related disorder	GBenign
Select item 3042128	NM_000014.6(A2M):c.2531C>T (p.Ala844Val)	KLRG1, A2M (A694V +2 more)	Single nucleotide variant (missense variant)	A2M-related disorder	GBenign
Select item 3041113	NM_000014.6(A2M):c.2439G>A (p.Thr813=)	A2M, KLRG1	Single nucleotide variant (synonymous variant)	A2M-related disorder	GLikely benign
Select item 3034349	NM_000014.6(A2M):c.1757G>A (p.Arg586Gln)	A2M, KLRG1 (R436Q +2 more)	Single nucleotide variant (missense variant)	A2M-related disorder	GLikely benign
Select item 3057371	NM_000014.6(A2M):c.1644C>T (p.Thr548=)	A2M, KLRG1	Single nucleotide variant (synonymous variant)	A2M-related disorder	GLikely benign
Select item 3038794	NM_000014.6(A2M):c.1506G>A (p.Lys502=)	A2M, KLRG1	Single nucleotide variant (synonymous variant)	A2M-related disorder	GLikely benign
Select item 3033677	NM_000014.6(A2M):c.1495-10T>C	A2M, KLRG1	Single nucleotide variant (intron variant)	A2M-related disorder	GLikely benign
Select item 3057071	NM_000014.6(A2M):c.1296C>T (p.Tyr432=)	A2M, KLRG1	Single nucleotide variant (synonymous variant)	A2M-related disorder	GBenign
Select item 3049620	NM_000014.6(A2M):c.1275C>T (p.Tyr425=)	A2M, KLRG1	Single nucleotide variant (synonymous variant)	A2M-related disorder	GBenign
Select item 3044172	NM_000014.6(A2M):c.1129G>A (p.Val377Ile)	A2M, KLRG1 (V227I +2 more)	Single nucleotide variant (missense variant)	A2M-related disorder	GBenign
Select item 3041387	NM_000014.6(A2M):c.53T>G (p.Leu18Arg)	A2M, KLRG1 (L18R)	Single nucleotide variant (missense variant +1 more)	A2M-related disorder	GLikely benign