"Ambry Genetics"[submitter] AND "SAMD9"[gene] - ClinVar

Search results

Items: 83

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 521333	NM_017654.4(SAMD9):c.4663C>T (p.Pro1555Ser)	SAMD9 (P1555S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 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 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 2306628	NM_017654.4(SAMD9):c.4411A>G (p.Met1471Val)	SAMD9 (M1471V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 3316115	NM_017654.4(SAMD9):c.4387T>C (p.Ser1463Pro)	SAMD9 (S1463P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2485793	NM_017654.4(SAMD9):c.4265T>C (p.Ile1422Thr)	SAMD9 (I1422T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3157714	NM_017654.4(SAMD9):c.4186T>C (p.Ser1396Pro)	SAMD9 (S1396P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 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 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 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 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 1407797	NM_017654.4(SAMD9):c.3704G>T (p.Ser1235Ile)	SAMD9 (S1235I)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1337292	NM_017654.4(SAMD9):c.3698C>T (p.Ser1233Leu)	SAMD9 (S1233L)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 3157712	NM_017654.4(SAMD9):c.3694G>A (p.Val1232Ile)	SAMD9 (V1232I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
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 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 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 3157711	NM_017654.4(SAMD9):c.3502C>G (p.Gln1168Glu)	SAMD9 (Q1168E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3157710	NM_017654.4(SAMD9):c.3407A>C (p.Glu1136Ala)	SAMD9 (E1136A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 2260490	NM_017654.4(SAMD9):c.3356T>C (p.Ile1119Thr)	SAMD9 (I1119T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3316113	NM_017654.4(SAMD9):c.3299G>T (p.Gly1100Val)	SAMD9 (G1100V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1337636	NM_017654.4(SAMD9):c.3192T>G (p.Asn1064Lys)	SAMD9 (N1064K)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GUncertain significance
Select item 1508940	NM_017654.4(SAMD9):c.3175C>T (p.His1059Tyr)	SAMD9 (H1059Y)	Single nucleotide variant (missense variant)	not provided +1 more	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 2279746	NM_017654.4(SAMD9):c.3024G>A (p.Met1008Ile)	SAMD9 (M1008I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 521232	NM_017654.4(SAMD9):c.2920G>A (p.Glu974Lys)	SAMD9 (E974K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GPathogenic
Select item 2275727	NM_017654.4(SAMD9):c.2771T>C (p.Leu924Pro)	SAMD9 (L924P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1174761	NM_017654.4(SAMD9):c.2686T>C (p.Tyr896His)	SAMD9 (Y896H)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 3157709	NM_017654.4(SAMD9):c.2594T>C (p.Phe865Ser)	SAMD9 (F865S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1025396	NM_017654.4(SAMD9):c.2374G>A (p.Val792Ile)	SAMD9 (V792I)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 2539643	NM_017654.4(SAMD9):c.2371T>C (p.Tyr791His)	SAMD9 (Y791H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2272024	NM_017654.4(SAMD9):c.2347T>C (p.Tyr783His)	SAMD9 (Y783H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1337696	NM_017654.4(SAMD9):c.2280T>G (p.Cys760Trp)	SAMD9 (C760W)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1422840	NM_017654.4(SAMD9):c.2254T>A (p.Trp752Arg)	SAMD9 (W752R)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1378843	NM_017654.4(SAMD9):c.2210A>G (p.His737Arg)	SAMD9 (H737R)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2303421	NM_017654.4(SAMD9):c.2153T>C (p.Ile718Thr)	SAMD9 (I718T)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2559033	NM_017654.4(SAMD9):c.2141T>C (p.Leu714Pro)	SAMD9 (L714P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3157708	NM_017654.4(SAMD9):c.2108C>T (p.Ser703Leu)	SAMD9 (S703L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1320287	NM_017654.4(SAMD9):c.2071T>C (p.Trp691Arg)	SAMD9 (W691R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 3157707	NM_017654.4(SAMD9):c.2063A>C (p.Lys688Thr)	SAMD9 (K688T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1350276	NM_017654.4(SAMD9):c.2063A>G (p.Lys688Arg)	SAMD9 (K688R)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 421898	NM_017654.4(SAMD9):c.2054G>A (p.Arg685Gln)	SAMD9 (R685Q)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic
Select item 1433101	NM_017654.4(SAMD9):c.2041G>C (p.Glu681Gln)	SAMD9 (E681Q)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2186881	NM_017654.4(SAMD9):c.2002G>A (p.Asp668Asn)	SAMD9 (D668N)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 985501	NM_017654.4(SAMD9):c.1972A>G (p.Asn658Asp)	SAMD9 (N658D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3316110	NM_017654.4(SAMD9):c.1732G>T (p.Val578Leu)	SAMD9 (V578L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 2699778	NM_017654.4(SAMD9):c.1528C>T (p.Pro510Ser)	SAMD9 (P510S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2312859	NM_017654.4(SAMD9):c.1498C>T (p.Leu500Phe)	SAMD9 (L500F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3316109	NM_017654.4(SAMD9):c.1319T>C (p.Leu440Ser)	SAMD9 (L440S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2303709	NM_017654.4(SAMD9):c.1304A>G (p.Lys435Arg)	SAMD9 (K435R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3157706	NM_017654.4(SAMD9):c.1300A>C (p.Ile434Leu)	SAMD9 (I434L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2231044	NM_017654.4(SAMD9):c.1228T>G (p.Tyr410Asp)	SAMD9 (Y410D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely pathogenic
Select item 2298796	NM_017654.4(SAMD9):c.1112A>T (p.Glu371Val)	SAMD9 (E371V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1351455	NM_017654.4(SAMD9):c.1106T>C (p.Leu369Pro)	SAMD9 (L369P)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1312564	NM_017654.4(SAMD9):c.1064A>G (p.Asn355Ser)	SAMD9 (N355S)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 2544420	NM_017654.4(SAMD9):c.1053C>A (p.Asp351Glu)	SAMD9 (D351E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3316114	NM_017654.4(SAMD9):c.1017C>A (p.Phe339Leu)	SAMD9 (F339L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3157715	NM_017654.4(SAMD9):c.880C>A (p.Leu294Met)	SAMD9 (L294M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1312702	NM_017654.4(SAMD9):c.868G>C (p.Val290Leu)	SAMD9 (V290L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1937861	NM_017654.4(SAMD9):c.848G>A (p.Cys283Tyr)	SAMD9 (C283Y)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2206113	NM_017654.4(SAMD9):c.847T>C (p.Cys283Arg)	SAMD9 (C283R)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1878807	NM_017654.4(SAMD9):c.664T>C (p.Phe222Leu)	SAMD9 (F222L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1314034	NM_017654.4(SAMD9):c.457A>G (p.Arg153Gly)	SAMD9 (R153G)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1983425	NM_017654.4(SAMD9):c.347G>A (p.Gly116Asp)	SAMD9 (G116D)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 3316112	NM_017654.4(SAMD9):c.346G>T (p.Gly116Cys)	SAMD9 (G116C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3316111	NM_017654.4(SAMD9):c.316C>A (p.Arg106Ser)	SAMD9 (R106S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 1005053	NM_017654.4(SAMD9):c.316C>T (p.Arg106Cys)	SAMD9 (R106C)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 2662552	NM_017654.4(SAMD9):c.304T>A (p.Ser102Thr)	SAMD9 (S102T)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2300844	NM_017654.4(SAMD9):c.302T>G (p.Val101Gly)	SAMD9 (V101G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1656690	NM_017654.4(SAMD9):c.224G>A (p.Arg75Gln)	SAMD9 (R75Q)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 1337618	NM_017654.4(SAMD9):c.209T>A (p.Leu70Gln)	SAMD9 (L70Q)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1394910	NM_017654.4(SAMD9):c.194T>C (p.Ile65Thr)	SAMD9 (I65T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2536988	NM_017654.4(SAMD9):c.97A>G (p.Arg33Gly)	SAMD9 (R33G)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 1481599	NM_017654.4(SAMD9):c.89A>G (p.Gln30Arg)	SAMD9 (Q30R)	Single nucleotide variant (missense variant)	SAMD9-related disorder +2 more	GUncertain significance
Select item 985716	NM_017654.4(SAMD9):c.88C>T (p.Gln30Ter)	SAMD9 (Q30*)	Single nucleotide variant (nonsense)	Inborn genetic diseases	GUncertain significance
Select item 2381365	NM_017654.4(SAMD9):c.44C>T (p.Thr15Ile)	SAMD9 (T15I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

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Items: 83