"Ambry Genetics"[submitter] AND "SI"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2545642	NM_001041.4(SI):c.5460A>T (p.Glu1820Asp)	SI (E1820D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2627953	NM_001041.4(SI):c.5393T>G (p.Phe1798Cys)	SI (F1798C)	Single nucleotide variant (missense variant)	Sucrase-isomaltase deficiency +1 more	GUncertain significance
Select item 1552929	NM_001041.4(SI):c.5363C>T (p.Thr1788Met)	SI (T1788M)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2293074	NM_001041.4(SI):c.5273A>G (p.Lys1758Arg)	SI (K1758R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1909045	NM_001041.4(SI):c.5267T>C (p.Ile1756Thr)	SI (I1756T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3318431	NM_001041.4(SI):c.5162A>G (p.Gln1721Arg)	SI (Q1721R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3162046	NM_001041.4(SI):c.5080C>A (p.Gln1694Lys)	SI (Q1694K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2254290	NM_001041.4(SI):c.5066A>G (p.His1689Arg)	SI (H1689R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3162043	NM_001041.4(SI):c.5060G>C (p.Gly1687Ala)	SI (G1687A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2381702	NM_001041.4(SI):c.4964G>A (p.Arg1655Gln)	SI (R1655Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1482955	NM_001041.4(SI):c.4961C>A (p.Ala1654Asp)	SI (A1654D)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 899435	NM_001041.4(SI):c.4849G>C (p.Asp1617His)	SI (D1617H)	Single nucleotide variant (missense variant)	Sucrase-isomaltase deficiency +2 more	GUncertain significance
Select item 733604	NM_001041.4(SI):c.4721C>G (p.Thr1574Ser)	SI (T1574S)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1361845	NM_001041.4(SI):c.4469G>T (p.Ser1490Ile)	SI (S1490I)	Single nucleotide variant (missense variant)	Sucrase-isomaltase deficiency +2 more	GUncertain significance
Select item 3162042	NM_001041.4(SI):c.4445T>C (p.Ile1482Thr)	SI (I1482T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1490967	NM_001041.4(SI):c.4439T>C (p.Ile1480Thr)	SI (I1480T)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1599372	NM_001041.4(SI):c.4418A>G (p.Lys1473Arg)	SI (K1473R)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 3162040	NM_001041.4(SI):c.4403A>T (p.His1468Leu)	SI (H1468L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2317934	NM_001041.4(SI):c.4360G>A (p.Asp1454Asn)	SI (D1454N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2484004	NM_001041.4(SI):c.4327A>T (p.Ile1443Phe)	SI (I1443F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3318434	NM_001041.4(SI):c.4176G>T (p.Trp1392Cys)	SI (W1392C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1942082	NM_001041.4(SI):c.4155G>C (p.Lys1385Asn)	SI (K1385N)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3162039	NM_001041.4(SI):c.4140C>A (p.Asp1380Glu)	SI (D1380E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2414568	NM_001041.4(SI):c.4000G>A (p.Val1334Ile)	SI (V1334I)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1942586	NM_001041.4(SI):c.3992G>T (p.Trp1331Leu)	SI (W1331L)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1524520	NM_001041.4(SI):c.3920C>T (p.Thr1307Ile)	SI (T1307I)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2408011	NM_001041.4(SI):c.3815G>A (p.Gly1272Asp)	SI (G1272D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 1144761	NM_001041.4(SI):c.3772A>G (p.Thr1258Ala)	SI (T1258A)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2617081	NM_001041.4(SI):c.3718C>T (p.Arg1240Trp)	SI (R1240W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2475131	NM_001041.4(SI):c.3688C>T (p.Arg1230Cys)	SI (R1230C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2168397	NM_001041.4(SI):c.3581T>A (p.Phe1194Tyr)	SI (F1194Y)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2419569	NM_001041.4(SI):c.3560C>T (p.Thr1187Ile)	SI (T1187I)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2602405	NM_001041.4(SI):c.3557G>A (p.Arg1186His)	SI (R1186H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3162038	NM_001041.4(SI):c.3527C>T (p.Thr1176Ile)	SI (T1176I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 344030	NM_001041.4(SI):c.3408A>C (p.Arg1136Ser)	SI (R1136S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 432014	NM_001041.4(SI):c.3370C>T (p.Arg1124Ter)	SI (R1124*)	Single nucleotide variant (nonsense)	Sucrase-isomaltase deficiency +2 more	GPathogenic/Likely pathogenic
Select item 344031	NM_001041.4(SI):c.3242G>A (p.Ser1081Asn)	SI (S1081N)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 3162037	NM_001041.4(SI):c.3240C>G (p.Ser1080Arg)	SI (S1080R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2073146	NM_001041.4(SI):c.3233G>A (p.Arg1078Gln)	SI (R1078Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1910715	NM_001041.4(SI):c.3232C>T (p.Arg1078Trp)	SI (R1078W)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1419	NM_001041.4(SI):c.3218G>A (p.Gly1073Asp)	SI (G1073D)	Single nucleotide variant (missense variant)	Sucrase-isomaltase deficiency +2 more	GConflicting classifications of pathogenicity
Select item 344032	NM_001041.4(SI):c.3197A>G (p.Glu1066Gly)	SI (E1066G)	Single nucleotide variant (missense variant)	Sucrase-isomaltase deficiency +1 more	GUncertain significance
Select item 3162036	NM_001041.4(SI):c.3076A>G (p.Lys1026Glu)	SI (K1026E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2156498	NM_001041.4(SI):c.3056G>A (p.Arg1019His)	SI (R1019H)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1169550	NM_001041.4(SI):c.3014A>C (p.Asn1005Thr)	SI (N1005T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 3162035	NM_001041.4(SI):c.3011C>A (p.Ala1004Glu)	SI (A1004E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1160753	NM_001041.4(SI):c.2999A>C (p.Gln1000Pro)	SI (Q1000P)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 1466573	NM_001041.4(SI):c.2891C>T (p.Thr964Met)	SI (T964M)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1574028	NM_001041.4(SI):c.2888G>A (p.Arg963Lys)	SI (R963K)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 1944521	NM_001041.4(SI):c.2864G>A (p.Cys955Tyr)	SI (C955Y)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1415424	NM_001041.4(SI):c.2852C>G (p.Thr951Ser)	SI (T951S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2332021	NM_001041.4(SI):c.2798A>G (p.Gln933Arg)	SI (Q933R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1371460	NM_001041.4(SI):c.2795A>G (p.Asn932Ser)	SI (N932S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3318433	NM_001041.4(SI):c.2611A>G (p.Thr871Ala)	SI (T871A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1471165	NM_001041.4(SI):c.2600A>C (p.Tyr867Ser)	SI (Y867S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2326185	NM_001041.4(SI):c.2526A>C (p.Gln842His)	SI (Q842H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1389629	NM_001041.4(SI):c.2517T>A (p.Asp839Glu)	SI (D839E)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3162033	NM_001041.4(SI):c.2471A>G (p.Asn824Ser)	SI (N824S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1929611	NM_001041.4(SI):c.2342A>G (p.Tyr781Cys)	SI (Y781C)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2291261	NM_001041.4(SI):c.2317T>G (p.Trp773Gly)	SI (W773G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3318435	NM_001041.4(SI):c.2185A>T (p.Ile729Phe)	SI (I729F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2543768	NM_001041.4(SI):c.2157T>G (p.His719Gln)	SI (H719Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3162031	NM_001041.4(SI):c.2121T>A (p.His707Gln)	SI (H707Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2621833	NM_001041.4(SI):c.2088A>T (p.Leu696Phe)	SI (L696F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3162029	NM_001041.4(SI):c.2071A>C (p.Ile691Leu)	SI (I691L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2279885	NM_001041.4(SI):c.1900A>G (p.Ile634Val)	SI (I634V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2312185	NM_001041.4(SI):c.1828G>A (p.Glu610Lys)	SI (E610K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2192719	NM_001041.4(SI):c.1825T>C (p.Trp609Arg)	SI (W609R)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2281925	NM_001041.4(SI):c.1784G>A (p.Gly595Glu)	SI (G595E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1424821	NM_001041.4(SI):c.1762C>T (p.Arg588Cys)	SI (R588C)	Single nucleotide variant (missense variant)	Sucrase-isomaltase deficiency +2 more	GUncertain significance
Select item 1395313	NM_001041.4(SI):c.1694G>C (p.Ser565Thr)	SI (S565T)	Single nucleotide variant (missense variant)	Sucrase-isomaltase deficiency +2 more	GUncertain significance
Select item 3162027	NM_001041.4(SI):c.1685A>T (p.Tyr562Phe)	SI (Y562F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3162026	NM_001041.4(SI):c.1656G>C (p.Trp552Cys)	SI (W552C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1463433	NM_001041.4(SI):c.1617G>A (p.Met539Ile)	SI (M539I)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1584968	NM_001041.4(SI):c.1474A>G (p.Ile492Val)	SI (I492V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2543128	NM_001041.4(SI):c.1417G>C (p.Val473Leu)	SI (V473L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2265316	NM_001041.4(SI):c.1384C>T (p.Pro462Ser)	SI (P462S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2262041	NM_001041.4(SI):c.1339G>A (p.Gly447Arg)	SI (G447R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2606311	NM_001041.4(SI):c.1301G>A (p.Arg434Gln)	SI (R434Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 1349013	NM_001041.4(SI):c.1285G>A (p.Ala429Thr)	SI (A429T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1615159	NM_001041.4(SI):c.1166T>A (p.Ile389Asn)	SI (I389N)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 344060	NM_001041.4(SI):c.1106A>G (p.Lys369Arg)	SI (K369R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 2515691	NM_001041.4(SI):c.991C>T (p.Pro331Ser)	SI (P331S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1522260	NM_001041.4(SI):c.917T>G (p.Ile306Ser)	SI (I306S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2059982	NM_001041.4(SI):c.877G>A (p.Gly293Ser)	SI (G293S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2281469	NM_001041.4(SI):c.876C>G (p.Phe292Leu)	SI (F292L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3162047	NM_001041.4(SI):c.848G>T (p.Cys283Phe)	SI (C283F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1899566	NM_001041.4(SI):c.840C>G (p.Phe280Leu)	SI (F280L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 903241	NM_001041.4(SI):c.780T>G (p.Ile260Met)	SI (I260M)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1429460	NM_001041.4(SI):c.636G>A (p.Leu212=)	SI	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2612914	NM_001041.4(SI):c.610A>T (p.Ile204Phe)	SI (I204F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2200272	NM_001041.4(SI):c.610A>G (p.Ile204Val)	SI (I204V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1384314	NM_001041.4(SI):c.580G>T (p.Val194Phe)	SI (V194F)	Single nucleotide variant (missense variant)	Sucrase-isomaltase deficiency +2 more	GUncertain significance
Select item 2469926	NM_001041.4(SI):c.579G>T (p.Lys193Asn)	SI (K193N)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1041157	NM_001041.4(SI):c.563C>T (p.Thr188Met)	SI (T188M)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1389307	NM_001041.4(SI):c.551C>T (p.Thr184Ile)	SI (T184I)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2603690	NM_001041.4(SI):c.448A>G (p.Thr150Ala)	SI (T150A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1553819	NM_001041.4(SI):c.364A>G (p.Thr122Ala)	SI (T122A)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 1596543	NM_001041.4(SI):c.355A>T (p.Met119Leu)	SI (M119L)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1441782	NM_001041.4(SI):c.325G>A (p.Val109Ile)	SI (V109I)	Single nucleotide variant (missense variant)	Sucrase-isomaltase deficiency +2 more	GUncertain significance

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