"GeneDx"[submitter] AND "SAMD9"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1186789	NM_017654.4(SAMD9):c.4757T>C (p.Ile1586Thr)	SAMD9 (I1586T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3369400	NM_017654.4(SAMD9):c.4747G>A (p.Ala1583Thr)	SAMD9 (A1583T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3363267	NM_017654.4(SAMD9):c.4747G>T (p.Ala1583Ser)	SAMD9 (A1583S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2811906	NM_017654.4(SAMD9):c.4742C>T (p.Pro1581Leu)	SAMD9 (P1581L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2776502	NM_017654.4(SAMD9):c.4734T>C (p.Ile1578=)	SAMD9	Single nucleotide variant (synonymous variant)	not provided	GConflicting classifications of pathogenicity
Select item 769723	NM_017654.4(SAMD9):c.4733T>C (p.Ile1578Thr)	SAMD9 (I1578T)	Single nucleotide variant (missense variant)	MIRAGE syndrome +4 more	GBenign/Likely benign
Select item 709973	NM_017654.4(SAMD9):c.4724G>A (p.Gly1575Glu)	SAMD9 (G1575E)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 712662	NM_017654.4(SAMD9):c.4673T>A (p.Leu1558Ter)	SAMD9 (L1558*)	Single nucleotide variant (nonsense)	not provided	GConflicting classifications of pathogenicity
Select item 769724	NM_017654.4(SAMD9):c.4666G>A (p.Ala1556Thr)	SAMD9 (A1556T)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 1337691	NM_017654.4(SAMD9):c.4658T>C (p.Ile1553Thr)	SAMD9 (I1553T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 1915611	NM_017654.4(SAMD9):c.4645A>T (p.Ile1549Phe)	SAMD9 (I1549F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2578258	NM_017654.4(SAMD9):c.4631G>A (p.Gly1544Glu)	SAMD9 (G1544E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1517435	NM_017654.4(SAMD9):c.4630G>A (p.Gly1544Arg)	SAMD9 (G1544R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2577818	NM_017654.4(SAMD9):c.4598G>A (p.Arg1533Gln)	SAMD9 (R1533Q)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 521334	NM_017654.4(SAMD9):c.4586G>A (p.Arg1529His)	SAMD9 (R1529H)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 554312	NM_017654.4(SAMD9):c.4558G>T (p.Glu1520Ter)	SAMD9 (E1520*)	Single nucleotide variant (nonsense)	not specified +2 more	GUncertain significance
Select item 2169091	NM_017654.4(SAMD9):c.4517C>T (p.Pro1506Leu)	SAMD9 (P1506L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1878952	NM_017654.4(SAMD9):c.4496A>G (p.Asp1499Gly)	SAMD9 (D1499G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2505963	NM_017654.4(SAMD9):c.4463G>T (p.Arg1488Ile)	SAMD9 (R1488I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1727220	NM_017654.4(SAMD9):c.4460A>G (p.Lys1487Arg)	SAMD9 (K1487R)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1509949	NM_017654.4(SAMD9):c.4438T>C (p.Tyr1480His)	SAMD9 (Y1480H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2573985	NM_017654.4(SAMD9):c.4429C>T (p.Pro1477Ser)	SAMD9 (P1477S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1358044	NM_017654.4(SAMD9):c.4418G>A (p.Arg1473His)	SAMD9 (R1473H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1337859	NM_017654.4(SAMD9):c.4417C>T (p.Arg1473Cys)	SAMD9 (R1473C)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2446582	NM_017654.4(SAMD9):c.4414C>T (p.His1472Tyr)	SAMD9 (H1472Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 734239	NM_017654.4(SAMD9):c.4396G>A (p.Gly1466Arg)	SAMD9 (G1466R)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 555093	NM_017654.4(SAMD9):c.4331AAC[1] (p.Gln1445del)	SAMD9 (Q1445del)	Microsatellite (inframe_deletion)	Normophosphatemic familial tumoral calcinosis +1 more	GUncertain significance
Select item 1963139	NM_017654.4(SAMD9):c.4270C>G (p.Leu1424Val)	SAMD9 (L1424V)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1706652	NM_017654.4(SAMD9):c.4230del (p.Lys1410fs)	SAMD9 (K1410fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 1439944	NM_017654.4(SAMD9):c.4209A>T (p.Arg1403Ser)	SAMD9 (R1403S)	Single nucleotide variant (missense variant)	SAMD9-related disorder +1 more	GUncertain significance
Select item 1337848	NM_017654.4(SAMD9):c.4166T>C (p.Ile1389Thr)	SAMD9 (I1389T)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 1804201	NM_017654.4(SAMD9):c.4159A>C (p.Asn1387His)	SAMD9 (N1387H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1414555	NM_017654.4(SAMD9):c.4109del (p.Thr1370fs)	SAMD9 (T1370fs)	Deletion (frameshift variant)	not specified +3 more	GUncertain significance
Select item 3368786	NM_017654.4(SAMD9):c.4105T>C (p.Tyr1369His)	SAMD9 (Y1369H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 70729	NM_017654.4(SAMD9):c.4102G>A (p.Glu1368Lys)	SAMD9 (E1368K)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign/Likely benign
Select item 3343066	NM_017654.4(SAMD9):c.4086G>C (p.Met1362Ile)	SAMD9 (M1362I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2498042	NM_017654.4(SAMD9):c.4069G>A (p.Asp1357Asn)	SAMD9 (D1357N)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2573841	NM_017654.4(SAMD9):c.4065A>C (p.Gln1355His)	SAMD9 (Q1355H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3316116	NM_017654.4(SAMD9):c.4047A>C (p.Glu1349Asp)	SAMD9 (E1349D)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1939158	NM_017654.4(SAMD9):c.4010T>C (p.Val1337Ala)	SAMD9 (V1337A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1336034	NM_017654.4(SAMD9):c.4001G>T (p.Arg1334Ile)	SAMD9 (R1334I)	Single nucleotide variant (missense variant)	Monosomy 7 myelodysplasia and leukemia syndrome 2 +3 more	GConflicting classifications of pathogenicity
Select item 3011210	NM_017654.4(SAMD9):c.3982C>T (p.Gln1328Ter)	SAMD9 (Q1328*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 3371730	NM_017654.4(SAMD9):c.3966G>C (p.Lys1322Asn)	SAMD9 (K1322N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2663720	NM_017654.4(SAMD9):c.3934G>A (p.Glu1312Lys)	SAMD9 (E1312K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2505935	NM_017654.4(SAMD9):c.3887T>G (p.Val1296Gly)	SAMD9 (V1296G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1723601	NM_017654.4(SAMD9):c.3886G>A (p.Val1296Met)	SAMD9 (V1296M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 253153	NM_017654.4(SAMD9):c.3877C>T (p.Arg1293Trp)	SAMD9 (R1293W)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 1802018	NM_017654.4(SAMD9):c.3864A>T (p.Glu1288Asp)	SAMD9 (E1288D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1165054	NM_017654.4(SAMD9):c.3825T>C (p.Phe1275=)	SAMD9	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3375537	NM_017654.4(SAMD9):c.3814G>T (p.Asp1272Tyr)	SAMD9 (D1272Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3370667	NM_017654.4(SAMD9):c.3814G>C (p.Asp1272His)	SAMD9 (D1272H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1338606	NM_017654.4(SAMD9):c.3813del (p.Phe1271fs)	SAMD9 (F1271fs)	Deletion (frameshift variant)	not specified +1 more	GUncertain significance
Select item 1337152	NM_017654.4(SAMD9):c.3764C>T (p.Pro1255Leu)	SAMD9 (P1255L)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1511513	NM_017654.4(SAMD9):c.3743T>G (p.Leu1248Ter)	SAMD9 (L1248*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 1029634	NM_017654.4(SAMD9):c.3728_3731del (p.Asn1243fs)	SAMD9 (N1243fs)	Deletion (frameshift variant)	MIRAGE syndrome +1 more	GUncertain significance
Select item 1338121	NM_017654.4(SAMD9):c.3725C>T (p.Pro1242Leu)	SAMD9 (P1242L)	Single nucleotide variant (missense variant)	MIRAGE syndrome +2 more	GUncertain significance
Select item 1510921	NM_017654.4(SAMD9):c.3721G>C (p.Asp1241His)	SAMD9 (D1241H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2500641	NM_017654.4(SAMD9):c.3679T>C (p.Tyr1227His)	SAMD9 (Y1227H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2958875	NM_017654.4(SAMD9):c.3676A>G (p.Arg1226Gly)	SAMD9 (R1226G)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1376031	NM_017654.4(SAMD9):c.3649T>C (p.Phe1217Leu)	SAMD9 (F1217L)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2084417	NM_017654.4(SAMD9):c.3640A>G (p.Ile1214Val)	SAMD9 (I1214V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2184206	NM_017654.4(SAMD9):c.3602T>G (p.Ile1201Arg)	SAMD9 (I1201R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1712786	NM_017654.4(SAMD9):c.3587G>A (p.Gly1196Asp)	SAMD9 (G1196D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1712867	NM_017654.4(SAMD9):c.3575A>G (p.Tyr1192Cys)	SAMD9 (Y1192C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2694191	NM_017654.4(SAMD9):c.3572C>T (p.Thr1191Ile)	SAMD9 (T1191I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1314551	NM_017654.4(SAMD9):c.3568G>A (p.Asp1190Asn)	SAMD9 (D1190N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1988603	NM_017654.4(SAMD9):c.3563G>A (p.Arg1188Gln)	SAMD9 (R1188Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 817158	NM_017654.4(SAMD9):c.3558_3562del (p.Arg1187fs)	SAMD9 (R1187fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 1902140	NM_017654.4(SAMD9):c.3548C>T (p.Pro1183Leu)	SAMD9 (P1183L)	Single nucleotide variant (missense variant)	MIRAGE syndrome +1 more	GUncertain significance
Select item 1018161	NM_017654.4(SAMD9):c.3525T>G (p.Tyr1175Ter)	SAMD9 (Y1175*)	Single nucleotide variant (nonsense)	not provided +1 more	GUncertain significance
Select item 734240	NM_017654.4(SAMD9):c.3519A>C (p.Arg1173Ser)	SAMD9 (R1173S)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 2657669	NM_017654.4(SAMD9):c.3516T>A (p.Asp1172Glu)	SAMD9 (D1172E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3368153	NM_017654.4(SAMD9):c.3497C>T (p.Ser1166Phe)	SAMD9 (S1166F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1695707	NM_017654.4(SAMD9):c.3449T>C (p.Ile1150Thr)	SAMD9 (I1150T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3372689	NM_017654.4(SAMD9):c.3437T>G (p.Val1146Gly)	SAMD9 (V1146G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1337472	NM_017654.4(SAMD9):c.3403A>G (p.Ile1135Val)	SAMD9 (I1135V)	Single nucleotide variant (missense variant)	not specified +4 more	GUncertain significance
Select item 3343546	NM_017654.4(SAMD9):c.3383A>C (p.Lys1128Thr)	SAMD9 (K1128T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3364895	NM_017654.4(SAMD9):c.3371G>A (p.Gly1124Asp)	SAMD9 (G1124D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2580068	NM_017654.4(SAMD9):c.3362A>G (p.Asp1121Gly)	SAMD9 (D1121G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2195839	NM_017654.4(SAMD9):c.3361G>T (p.Asp1121Tyr)	SAMD9 (D1121Y)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2504856	NM_017654.4(SAMD9):c.3348T>G (p.Asn1116Lys)	SAMD9 (N1116K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1469152	NM_017654.4(SAMD9):c.3341C>A (p.Pro1114His)	SAMD9 (P1114H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3340694	NM_017654.4(SAMD9):c.3277T>C (p.Tyr1093His)	SAMD9 (Y1093H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1027194	NM_017654.4(SAMD9):c.3257A>C (p.Gln1086Pro)	SAMD9 (Q1086P)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1312757	NM_017654.4(SAMD9):c.3245C>G (p.Ala1082Gly)	SAMD9 (A1082G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1806541	NM_017654.4(SAMD9):c.3243T>C (p.Asn1081=)	SAMD9	Single nucleotide variant (synonymous variant)	not provided	GConflicting classifications of pathogenicity
Select item 1388242	NM_017654.4(SAMD9):c.3230G>A (p.Arg1077Gln)	SAMD9 (R1077Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1691671	NM_017654.4(SAMD9):c.3227A>G (p.His1076Arg)	SAMD9 (H1076R)	Single nucleotide variant (missense variant)	Monosomy 7 myelodysplasia and leukemia syndrome 2 +1 more	GUncertain significance
Select item 1389280	NM_017654.4(SAMD9):c.3220A>G (p.Ser1074Gly)	SAMD9 (S1074G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 732863	NM_017654.4(SAMD9):c.3215T>C (p.Leu1072Pro)	SAMD9 (L1072P)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2110370	NM_017654.4(SAMD9):c.3200T>C (p.Val1067Ala)	SAMD9 (V1067A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3372697	NM_017654.4(SAMD9):c.3199G>C (p.Val1067Leu)	SAMD9 (V1067L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3055872	NM_017654.4(SAMD9):c.3182A>G (p.Asp1061Gly)	SAMD9 (D1061G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1803537	NM_017654.4(SAMD9):c.3170C>T (p.Ala1057Val)	SAMD9 (A1057V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2663163	NM_017654.4(SAMD9):c.3134G>A (p.Gly1045Asp)	SAMD9 (G1045D)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1810490	NM_017654.4(SAMD9):c.3119G>A (p.Arg1040His)	SAMD9 (R1040H)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1376812	NM_017654.4(SAMD9):c.3118C>T (p.Arg1040Cys)	SAMD9 (R1040C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1337330	NM_017654.4(SAMD9):c.3118C>G (p.Arg1040Gly)	SAMD9 (R1040G)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1504375	NM_017654.4(SAMD9):c.3092T>C (p.Met1031Thr)	SAMD9 (M1031T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3368451	NM_017654.4(SAMD9):c.3071A>G (p.Lys1024Arg)	SAMD9 (K1024R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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