"CeGaT Center for Human Genetics Tuebingen"[submitter] AND "A2ML1"[gen - ClinVar

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Items: 23

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 698437	NM_144670.6(A2ML1):c.357G>C (p.Gly119=)	A2ML1, A2ML1-AS1	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely benign
Select item 445738	NM_144670.6(A2ML1):c.462+9GGA[2]	A2ML1-AS1, A2ML1	Microsatellite (intron variant)	not specified +1 more	GBenign/Likely benign
Select item 241910	NM_144670.6(A2ML1):c.483+7G>A	A2ML1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 561710	NM_144670.6(A2ML1):c.814C>T (p.Arg272Trp)	A2ML1 (R272W)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 996233	NM_144670.6(A2ML1):c.881C>T (p.Ala294Val)	A2ML1 (A294V)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 3025959	NM_144670.6(A2ML1):c.952G>A (p.Val318Ile)	A2ML1 (V318I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 390945	NM_144670.6(A2ML1):c.1050T>C (p.Phe350=)	A2ML1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GBenign/Likely benign
Select item 546698	NM_144670.6(A2ML1):c.1201T>C (p.Phe401Leu)	A2ML1 (F401L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 406202	NM_144670.6(A2ML1):c.1237G>A (p.Val413Ile)	A2ML1 (V413I)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign/Likely benign
Select item 664931	NM_144670.6(A2ML1):c.1394G>A (p.Gly465Asp)	A2ML1 (G465D)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 413820	NM_144670.6(A2ML1):c.1477T>C (p.Leu493=)	A2ML1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GBenign/Likely benign
Select item 506646	NM_144670.6(A2ML1):c.2249A>C (p.Glu750Ala)	A2ML1 (E750A +1 more)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 700971	NM_144670.6(A2ML1):c.2259C>T (p.His753=)	A2ML1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GLikely benign
Select item 695296	NM_144670.6(A2ML1):c.2310T>C (p.Thr770=)	A2ML1	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 546699	NM_144670.6(A2ML1):c.2342C>T (p.Thr781Ile)	A2ML1 (T781I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 203519	NM_144670.6(A2ML1):c.2405G>A (p.Arg802His)	A2ML1 (R802H +1 more)	Single nucleotide variant (missense variant)	A2ML1-related condition +2 more	GConflicting classifications of pathogenicity
Select item 426753	NM_144670.6(A2ML1):c.2464G>A (p.Val822Ile)	A2ML1 (V822I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 241897	NM_144670.6(A2ML1):c.2841G>A (p.Thr947=)	A2ML1	Single nucleotide variant (synonymous variant)	A2ML1-related condition +3 more	GBenign/Likely benign
Select item 2642689	NM_144670.6(A2ML1):c.2956C>T (p.Gln986Ter)	A2ML1 (Q495* +1 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 241900	NM_144670.6(A2ML1):c.3252C>T (p.His1084=)	A2ML1	Single nucleotide variant (synonymous variant)	A2ML1-related condition +3 more	GBenign/Likely benign
Select item 1878275	NM_144670.6(A2ML1):c.3393G>A (p.Thr1131=)	A2ML1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GLikely benign
Select item 444283	NM_144670.6(A2ML1):c.4000G>C (p.Gly1334Arg)	A2ML1 (G1334R +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 806831	NM_144670.6(A2ML1):c.4180G>T (p.Val1394Phe)	A2ML1 (V1394F +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance

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Items: 23