"PreventionGenetics, part of Exact Sciences"[submitter] AND "SAMD9"[ge - ClinVar

Search results

Items: 82

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3034353	NM_017654.4(SAMD9):c.*1G>A	SAMD9	Single nucleotide variant (3 prime UTR variant)	SAMD9-related disorder	GLikely benign
Select item 1987222	NM_017654.4(SAMD9):c.4738G>A (p.Gly1580Ser)	SAMD9 (G1580S)	Single nucleotide variant (missense variant)	SAMD9-related disorder +1 more	GUncertain significance
Select item 769723	NM_017654.4(SAMD9):c.4733T>C (p.Ile1578Thr)	SAMD9 (I1578T)	Single nucleotide variant (missense variant)	SAMD9-related disorder +5 more	GBenign/Likely benign
Select item 1907041	NM_017654.4(SAMD9):c.4729T>C (p.Ser1577Pro)	SAMD9 (S1577P)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 709973	NM_017654.4(SAMD9):c.4724G>A (p.Gly1575Glu)	SAMD9 (G1575E)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 2783200	NM_017654.4(SAMD9):c.4668T>G (p.Ala1556=)	SAMD9	Single nucleotide variant (synonymous variant)	SAMD9-related disorder +1 more	GLikely 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 2632082	NM_017654.4(SAMD9):c.4657A>G (p.Ile1553Val)	SAMD9 (I1553V)	Single nucleotide variant (missense variant)	SAMD9-related disorder	GUncertain significance
Select item 1571070	NM_017654.4(SAMD9):c.4531T>C (p.Leu1511=)	SAMD9	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2628698	NM_017654.4(SAMD9):c.4517C>G (p.Pro1506Arg)	SAMD9 (P1506R)	Single nucleotide variant (missense variant)	SAMD9-related disorder	GUncertain significance
Select item 1923749	NM_017654.4(SAMD9):c.4450G>A (p.Gly1484Arg)	SAMD9 (G1484R)	Single nucleotide variant (missense variant)	SAMD9-related disorder +1 more	GUncertain significance
Select item 3053018	NM_017654.4(SAMD9):c.4401A>G (p.Gln1467=)	SAMD9	Single nucleotide variant (synonymous variant)	SAMD9-related disorder	GLikely benign
Select item 734239	NM_017654.4(SAMD9):c.4396G>A (p.Gly1466Arg)	SAMD9 (G1466R)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 2631385	NM_017654.4(SAMD9):c.4262C>A (p.Pro1421Gln)	SAMD9 (P1421Q)	Single nucleotide variant (missense variant)	SAMD9-related disorder	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 2630256	NM_017654.4(SAMD9):c.4202C>T (p.Thr1401Ile)	SAMD9 (T1401I)	Single nucleotide variant (missense variant)	SAMD9-related disorder	GUncertain significance
Select item 1414555	NM_017654.4(SAMD9):c.4109del (p.Thr1370fs)	SAMD9 (T1370fs)	Deletion (frameshift variant)	SAMD9-related disorder +1 more	GUncertain significance
Select item 70729	NM_017654.4(SAMD9):c.4102G>A (p.Glu1368Lys)	SAMD9 (E1368K)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 740748	NM_017654.4(SAMD9):c.4067A>G (p.Glu1356Gly)	SAMD9 (E1356G)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 992633	NM_017654.4(SAMD9):c.3878G>A (p.Arg1293Gln)	SAMD9 (R1293Q)	Single nucleotide variant (missense variant)	SAMD9-related disorder	GPathogenic
Select item 1582148	NM_017654.4(SAMD9):c.3867G>A (p.Glu1289=)	SAMD9	Single nucleotide variant (synonymous variant)	SAMD9-related disorder +1 more	GLikely benign
Select item 2635540	NM_017654.4(SAMD9):c.3863A>T (p.Glu1288Val)	SAMD9 (E1288V)	Single nucleotide variant (missense variant)	SAMD9-related disorder	GUncertain significance
Select item 1406560	NM_017654.4(SAMD9):c.3813dup (p.Asp1272Ter)	SAMD9 (D1272*)	Duplication (nonsense)	SAMD9-related disorder +1 more	GUncertain significance
Select item 735472	NM_017654.4(SAMD9):c.3812T>C (p.Phe1271Ser)	SAMD9 (F1271S)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 1404402	NM_017654.4(SAMD9):c.3734A>G (p.Glu1245Gly)	SAMD9 (E1245G)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 2632358	NM_017654.4(SAMD9):c.3710A>C (p.Asp1237Ala)	SAMD9 (D1237A)	Single nucleotide variant (missense variant)	SAMD9-related disorder	GUncertain significance
Select item 554715	NM_017654.4(SAMD9):c.3651dup (p.Asp1218Ter)	SAMD9 (D1218*)	Duplication (nonsense)	not specified +5 more	GBenign/Likely benign
Select item 734240	NM_017654.4(SAMD9):c.3519A>C (p.Arg1173Ser)	SAMD9 (R1173S)	Single nucleotide variant (missense variant)	SAMD9-related disorder +3 more	GConflicting classifications of pathogenicity
Select item 3055872	NM_017654.4(SAMD9):c.3182A>G (p.Asp1061Gly)	SAMD9 (D1061G)	Single nucleotide variant (missense variant)	SAMD9-related disorder	GUncertain significance
Select item 1810490	NM_017654.4(SAMD9):c.3119G>A (p.Arg1040His)	SAMD9 (R1040H)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1376812	NM_017654.4(SAMD9):c.3118C>T (p.Arg1040Cys)	SAMD9 (R1040C)	Single nucleotide variant (missense variant)	SAMD9-related disorder +1 more	GUncertain significance
Select item 2633001	NM_017654.4(SAMD9):c.3020T>G (p.Ile1007Ser)	SAMD9 (I1007S)	Single nucleotide variant (missense variant)	SAMD9-related disorder	GUncertain significance
Select item 777829	NM_017654.4(SAMD9):c.3008A>G (p.Asn1003Ser)	SAMD9 (N1003S)	Single nucleotide variant (missense variant)	not specified +5 more	GLikely benign
Select item 1409991	NM_017654.4(SAMD9):c.3000T>A (p.Tyr1000Ter)	SAMD9 (Y1000*)	Single nucleotide variant (nonsense)	SAMD9-related disorder +2 more	GUncertain significance
Select item 1675125	NM_017654.4(SAMD9):c.2960T>C (p.Leu987Ser)	SAMD9 (L987S)	Single nucleotide variant (missense variant)	Normophosphatemic familial tumoral calcinosis +2 more	GUncertain significance
Select item 985307	NM_017654.4(SAMD9):c.2944C>T (p.Arg982Cys)	SAMD9 (R982C)	Single nucleotide variant (missense variant)	SAMD9-related disorder +4 more	GConflicting classifications of pathogenicity
Select item 1519378	NM_017654.4(SAMD9):c.2935T>C (p.Cys979Arg)	SAMD9 (C979R)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2629312	NM_017654.4(SAMD9):c.2885C>T (p.Thr962Ile)	SAMD9 (T962I)	Single nucleotide variant (missense variant)	SAMD9-related disorder	GUncertain significance
Select item 3033578	NM_017654.4(SAMD9):c.2856G>T (p.Gly952=)	SAMD9	Single nucleotide variant (synonymous variant)	SAMD9-related disorder	GLikely benign
Select item 2057876	NM_017654.4(SAMD9):c.2855G>C (p.Gly952Ala)	SAMD9 (G952A)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 2631682	NM_017654.4(SAMD9):c.2831T>C (p.Ile944Thr)	SAMD9 (I944T)	Single nucleotide variant (missense variant)	SAMD9-related disorder	GUncertain significance
Select item 1410216	NM_017654.4(SAMD9):c.2705G>A (p.Arg902Gln)	SAMD9 (R902Q)	Single nucleotide variant (missense variant)	SAMD9-related disorder +1 more	GUncertain significance
Select item 2981578	NM_017654.4(SAMD9):c.2583A>G (p.Glu861=)	SAMD9	Single nucleotide variant (synonymous variant)	SAMD9-related disorder +1 more	GLikely benign
Select item 738637	NM_017654.4(SAMD9):c.2556C>T (p.Ala852=)	SAMD9	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 1343336	NM_017654.4(SAMD9):c.2471G>A (p.Arg824Gln)	SAMD9	Single nucleotide variant (missense variant)	SAMD9-related disorder +2 more	GPathogenic
Select item 2637095	NM_017654.4(SAMD9):c.2455_2456delinsTT (p.Ala819Phe)	SAMD9 (A819F)	Indel (missense variant)	SAMD9-related disorder	GUncertain significance
Select item 452018	NM_017654.4(SAMD9):c.2419G>A (p.Val807Ile)	SAMD9 (V807I)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2635415	NM_017654.4(SAMD9):c.2395G>C (p.Asp799His)	SAMD9 (D799H)	Single nucleotide variant (missense variant)	SAMD9-related disorder +1 more	GUncertain significance
Select item 1025396	NM_017654.4(SAMD9):c.2374G>A (p.Val792Ile)	SAMD9 (V792I)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 2577635	NM_017654.4(SAMD9):c.2146G>A (p.Ala716Thr)	SAMD9 (A716T)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3033211	NM_017654.4(SAMD9):c.2102A>G (p.Tyr701Cys)	SAMD9 (Y701C)	Single nucleotide variant (missense variant)	SAMD9-related disorder	GUncertain significance
Select item 3044254	NM_017654.4(SAMD9):c.2070_2072del (p.Trp692del)	SAMD9 (W692del)	Deletion (inframe deletion)	SAMD9-related disorder	GUncertain significance
Select item 1043583	NM_017654.4(SAMD9):c.2053C>T (p.Arg685Ter)	SAMD9 (R685*)	Single nucleotide variant (nonsense)	MIRAGE syndrome +2 more	GUncertain significance
Select item 2843486	NM_017654.4(SAMD9):c.2034A>G (p.Ser678=)	SAMD9	Single nucleotide variant (synonymous variant)	SAMD9-related disorder +1 more	GLikely benign
Select item 729633	NM_017654.4(SAMD9):c.1920C>T (p.Val640=)	SAMD9	Single nucleotide variant (synonymous variant)	SAMD9-related disorder +2 more	GBenign/Likely benign
Select item 2041897	NM_017654.4(SAMD9):c.1917T>G (p.Thr639=)	SAMD9	Single nucleotide variant (synonymous variant)	SAMD9-related disorder +1 more	GLikely benign
Select item 716003	NM_017654.4(SAMD9):c.1880del (p.Ser627fs)	SAMD9 (S627fs)	Deletion (frameshift variant)	MIRAGE syndrome +3 more	GConflicting classifications of pathogenicity
Select item 554815	NM_017654.4(SAMD9):c.1800_1801del (p.Glu600fs)	SAMD9 (E600fs)	Deletion (frameshift variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 2636242	NM_017654.4(SAMD9):c.1667T>C (p.Leu556Pro)	SAMD9 (L556P)	Single nucleotide variant (missense variant)	SAMD9-related disorder	GUncertain significance
Select item 1337754	NM_017654.4(SAMD9):c.1653C>T (p.Asp551=)	SAMD9	Single nucleotide variant (synonymous variant)	not specified +2 more	GLikely benign
Select item 2911164	NM_017654.4(SAMD9):c.1632A>G (p.Leu544=)	SAMD9	Single nucleotide variant (synonymous variant)	SAMD9-related disorder +1 more	GLikely benign
Select item 2616863	NM_017654.4(SAMD9):c.1583T>C (p.Leu528Pro)	SAMD9 (L528P)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 2960745	NM_017654.4(SAMD9):c.1530A>G (p.Pro510=)	SAMD9	Single nucleotide variant (synonymous variant)	SAMD9-related disorder +1 more	GLikely benign
Select item 1311159	NM_017654.4(SAMD9):c.1220A>G (p.Asn407Ser)	SAMD9 (N407S)	Single nucleotide variant (missense variant)	SAMD9-related disorder +1 more	GUncertain significance
Select item 3029865	NM_017654.4(SAMD9):c.1054A>G (p.Ile352Val)	SAMD9 (I352V)	Single nucleotide variant (missense variant)	SAMD9-related disorder	GUncertain significance
Select item 1466440	NM_017654.4(SAMD9):c.1053C>T (p.Asp351=)	SAMD9	Single nucleotide variant (synonymous variant)	SAMD9-related disorder +1 more	GLikely benign
Select item 1045572	NM_017654.4(SAMD9):c.689G>A (p.Arg230His)	SAMD9 (R230H)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1337804	NM_017654.4(SAMD9):c.662G>A (p.Arg221Gln)	SAMD9 (R221Q)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 2630612	NM_017654.4(SAMD9):c.605A>C (p.Asn202Thr)	SAMD9 (N202T)	Single nucleotide variant (missense variant)	SAMD9-related disorder	GUncertain significance
Select item 1578398	NM_017654.4(SAMD9):c.521G>A (p.Arg174His)	SAMD9 (R174H)	Single nucleotide variant (missense variant)	SAMD9-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 1589615	NM_017654.4(SAMD9):c.375G>A (p.Pro125=)	SAMD9	Single nucleotide variant (synonymous variant)	SAMD9-related disorder +1 more	GLikely benign
Select item 2628770	NM_017654.4(SAMD9):c.359C>G (p.Pro120Arg)	SAMD9 (P120R)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2635453	NM_017654.4(SAMD9):c.302T>C (p.Val101Ala)	SAMD9 (V101A)	Single nucleotide variant (missense variant)	SAMD9-related disorder +1 more	GUncertain significance
Select item 2909440	NM_017654.4(SAMD9):c.291A>G (p.Lys97=)	SAMD9	Single nucleotide variant (synonymous variant)	SAMD9-related disorder +1 more	GLikely benign
Select item 782110	NM_017654.4(SAMD9):c.257C>T (p.Ser86Phe)	SAMD9 (S86F)	Single nucleotide variant (missense variant)	SAMD9-related disorder +2 more	GBenign/Likely benign
Select item 2106723	NM_017654.4(SAMD9):c.158A>T (p.His53Leu)	SAMD9 (H53L)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2781716	NM_017654.4(SAMD9):c.156A>G (p.Glu52=)	SAMD9	Single nucleotide variant (synonymous variant)	SAMD9-related disorder +1 more	GLikely benign
Select item 782844	NM_017654.4(SAMD9):c.95A>T (p.His32Leu)	SAMD9 (H32L)	Single nucleotide variant (missense variant)	SAMD9-related disorder +1 more	GLikely benign
Select item 1481599	NM_017654.4(SAMD9):c.89A>G (p.Gln30Arg)	SAMD9 (Q30R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1497031	NM_017654.4(SAMD9):c.83T>C (p.Ile28Thr)	SAMD9 (I28T)	Single nucleotide variant (missense variant)	SAMD9-related disorder +1 more	GUncertain significance
Select item 1468208	NM_017654.4(SAMD9):c.44C>A (p.Thr15Lys)	SAMD9 (T15K)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1666994	NM_017654.4(SAMD9):c.30T>C (p.Asn10=)	SAMD9	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign

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Items: 82