"PreventionGenetics, part of Exact Sciences"[submitter] AND "SAMD9L"[g - ClinVar

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Items: 72

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2633730	NM_152703.5(SAMD9L):c.4661G>C (p.Gly1554Ala)	SAMD9L (G1554A)	Single nucleotide variant (missense variant)	SAMD9L-related disorder	GUncertain significance
Select item 1973346	NM_152703.5(SAMD9L):c.4599A>G (p.Leu1533=)	SAMD9L	Single nucleotide variant (synonymous variant)	SAMD9L-related disorder +1 more	GLikely benign
Select item 2632147	NM_152703.5(SAMD9L):c.4537T>C (p.Trp1513Arg)	SAMD9L (W1513R)	Single nucleotide variant (missense variant)	SAMD9L-related disorder	GUncertain significance
Select item 1985255	NM_152703.5(SAMD9L):c.4482G>A (p.Glu1494=)	SAMD9L	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1494688	NM_152703.5(SAMD9L):c.4430A>C (p.Tyr1477Ser)	SAMD9L (Y1477S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1337126	NM_152703.5(SAMD9L):c.4383A>C (p.Gly1461=)	SAMD9L	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 3057841	NM_152703.5(SAMD9L):c.4308A>G (p.Pro1436=)	SAMD9L	Single nucleotide variant (synonymous variant)	SAMD9L-related disorder	GLikely benign
Select item 1519066	NM_152703.5(SAMD9L):c.4298T>C (p.Leu1433Pro)	SAMD9L (L1433P)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 2635304	NM_152703.5(SAMD9L):c.4183_4184delinsAA (p.Pro1395Asn)	SAMD9L (P1395N)	Indel (missense variant)	SAMD9L-related disorder +1 more	GUncertain significance
Select item 721632	NM_152703.5(SAMD9L):c.4170G>A (p.Leu1390=)	SAMD9L	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely benign
Select item 1448833	NM_152703.5(SAMD9L):c.3784T>G (p.Ser1262Ala)	SAMD9L (S1262A)	Single nucleotide variant (missense variant)	SAMD9L-related disorder +1 more	GUncertain significance
Select item 3058241	NM_152703.5(SAMD9L):c.3645C>T (p.Pro1215=)	SAMD9L	Single nucleotide variant (synonymous variant)	SAMD9L-related disorder	GLikely benign
Select item 738638	NM_152703.5(SAMD9L):c.3567T>C (p.Tyr1189=)	SAMD9L	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 1580630	NM_152703.5(SAMD9L):c.3524A>G (p.Tyr1175Cys)	SAMD9L (Y1175C)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 1184720	NM_152703.5(SAMD9L):c.3483A>T (p.Arg1161Ser)	SAMD9L (R1161S)	Single nucleotide variant (missense variant)	Ataxia-pancytopenia syndrome +1 more	GUncertain significance
Select item 783004	NM_152703.5(SAMD9L):c.3285A>G (p.Lys1095=)	SAMD9L	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely benign
Select item 1528798	NM_152703.5(SAMD9L):c.3198C>T (p.Asp1066=)	SAMD9L	Single nucleotide variant (synonymous variant)	SAMD9L-related disorder +1 more	GLikely benign
Select item 778936	NM_152703.5(SAMD9L):c.3102T>C (p.Asp1034=)	SAMD9L	Single nucleotide variant (synonymous variant)	not provided +4 more	GBenign/Likely benign
Select item 1338186	NM_152703.5(SAMD9L):c.3054G>A (p.Glu1018=)	SAMD9L	Single nucleotide variant (synonymous variant)	not specified +2 more	GLikely benign
Select item 781650	NM_152703.5(SAMD9L):c.3028C>G (p.Gln1010Glu)	SAMD9L (Q1010E)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign/Likely benign
Select item 1190635	NM_152703.5(SAMD9L):c.2957G>A (p.Arg986His)	SAMD9L (R986H)	Single nucleotide variant (missense variant)	Ataxia-pancytopenia syndrome +2 more	GConflicting classifications of pathogenicity
Select item 1982713	NM_152703.5(SAMD9L):c.2925A>G (p.Glu975=)	SAMD9L	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 3053650	NM_152703.5(SAMD9L):c.2859A>G (p.Thr953=)	SAMD9L	Single nucleotide variant (synonymous variant)	SAMD9L-related disorder	GLikely benign
Select item 2634007	NM_152703.5(SAMD9L):c.2704G>C (p.Glu902Gln)	SAMD9L (E902Q)	Single nucleotide variant (missense variant)	SAMD9L-related disorder	GUncertain significance
Select item 3036918	NM_152703.5(SAMD9L):c.2640C>T (p.His880=)	SAMD9L	Single nucleotide variant (synonymous variant)	SAMD9L-related disorder	GLikely benign
Select item 720052	NM_152703.5(SAMD9L):c.2607del (p.Phe869fs)	SAMD9L (F869fs)	Deletion (frameshift variant)	not provided +1 more	GLikely benign
Select item 1671065	NM_152703.5(SAMD9L):c.2551T>C (p.Leu851=)	SAMD9L	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1049620	NM_152703.5(SAMD9L):c.2528G>A (p.Arg843Gln)	SAMD9L (R843Q)	Single nucleotide variant (missense variant)	SAMD9L-related disorder +2 more	GUncertain significance
Select item 1337666	NM_152703.5(SAMD9L):c.2499G>A (p.Leu833=)	SAMD9L	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely benign
Select item 2888027	NM_152703.5(SAMD9L):c.2463T>A (p.Val821=)	SAMD9L	Single nucleotide variant (synonymous variant)	SAMD9L-related disorder +1 more	GLikely benign
Select item 1595442	NM_152703.5(SAMD9L):c.2433C>A (p.Val811=)	SAMD9L	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2631530	NM_152703.5(SAMD9L):c.2363G>C (p.Arg788Thr)	SAMD9L (R788T)	Single nucleotide variant (missense variant)	SAMD9L-related disorder +1 more	GUncertain significance
Select item 792083	NM_152703.5(SAMD9L):c.2127T>C (p.Phe709=)	SAMD9L	Single nucleotide variant (synonymous variant)	SAMD9L-related disorder +2 more	GBenign/Likely benign
Select item 1049582	NM_152703.5(SAMD9L):c.2069G>A (p.Gly690Asp)	SAMD9L (G690D)	Single nucleotide variant (missense variant)	SAMD9L-related disorder +5 more	GConflicting classifications of pathogenicity
Select item 2635526	NM_152703.5(SAMD9L):c.1966C>A (p.Leu656Met)	SAMD9L (L656M)	Single nucleotide variant (missense variant)	SAMD9L-related disorder	GUncertain significance
Select item 2634788	NM_152703.5(SAMD9L):c.1955T>C (p.Val652Ala)	SAMD9L (V652A)	Single nucleotide variant (missense variant)	SAMD9L-related disorder	GUncertain significance
Select item 776239	NM_152703.5(SAMD9L):c.1908C>T (p.Pro636=)	SAMD9L	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely benign
Select item 432926	NM_152703.5(SAMD9L):c.1877C>T (p.Ser626Leu)	SAMD9L (S626L)	Single nucleotide variant (missense variant)	SAMD9L-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 749294	NM_152703.5(SAMD9L):c.1860T>C (p.Thr620=)	SAMD9L	Single nucleotide variant (synonymous variant)	SAMD9L-related disorder +1 more	GLikely benign
Select item 2632172	NM_152703.5(SAMD9L):c.1859C>T (p.Thr620Ile)	SAMD9L (T620I)	Single nucleotide variant (missense variant)	SAMD9L-related disorder	GUncertain significance
Select item 2177491	NM_152703.5(SAMD9L):c.1766G>A (p.Arg589Gln)	SAMD9L (R589Q)	Single nucleotide variant (missense variant)	SAMD9L-related disorder +2 more	GUncertain significance
Select item 716940	NM_152703.5(SAMD9L):c.1696G>A (p.Ala566Thr)	SAMD9L (A566T)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 1710935	NM_152703.5(SAMD9L):c.1679T>G (p.Leu560Arg)	SAMD9L (L560R)	Single nucleotide variant (missense variant)	Ataxia-pancytopenia syndrome +2 more	GUncertain significance
Select item 1946577	NM_152703.5(SAMD9L):c.1544A>G (p.His515Arg)	SAMD9L (H515R)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 708671	NM_152703.5(SAMD9L):c.1503A>G (p.Arg501=)	SAMD9L	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely benign
Select item 2174821	NM_152703.5(SAMD9L):c.1497C>T (p.Asn499=)	SAMD9L	Single nucleotide variant (synonymous variant)	SAMD9L-related disorder +1 more	GLikely benign
Select item 3057298	NM_152703.5(SAMD9L):c.1479C>A (p.Pro493=)	SAMD9L	Single nucleotide variant (synonymous variant)	SAMD9L-related disorder	GLikely benign
Select item 3054732	NM_152703.5(SAMD9L):c.1476G>A (p.Gln492=)	SAMD9L	Single nucleotide variant (synonymous variant)	SAMD9L-related disorder	GLikely benign
Select item 1336635	NM_152703.5(SAMD9L):c.1356C>A (p.Ile452=)	SAMD9L	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely benign
Select item 778937	NM_152703.5(SAMD9L):c.1217G>A (p.Arg406Gln)	SAMD9L (R406Q)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 774190	NM_152703.5(SAMD9L):c.1216C>T (p.Arg406Ter)	SAMD9L (R406*)	Single nucleotide variant (nonsense)	not specified +5 more	GConflicting classifications of pathogenicity
Select item 1318680	NM_152703.5(SAMD9L):c.1193_1194insTAAACCTCTCCTATGAGA (p.Leu398_Val399insLysProLeuLeuTer)	SAMD9L	Insertion (nonsense +1 more)	not provided +1 more	GUncertain significance
Select item 1669284	NM_152703.5(SAMD9L):c.1147G>A (p.Glu383Lys)	SAMD9L (E383K)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 3045614	NM_152703.5(SAMD9L):c.1126T>C (p.Ser376Pro)	SAMD9L (S376P)	Single nucleotide variant (missense variant)	SAMD9L-related disorder	GUncertain significance
Select item 1414521	NM_152703.5(SAMD9L):c.1120G>C (p.Val374Leu)	SAMD9L (V374L)	Single nucleotide variant (missense variant)	SAMD9L-related disorder +2 more	GUncertain significance
Select item 736324	NM_152703.5(SAMD9L):c.979A>G (p.Ile327Val)	SAMD9L (I327V)	Single nucleotide variant (missense variant)	not specified +2 more	GLikely benign
Select item 1919092	NM_152703.5(SAMD9L):c.909T>C (p.Phe303=)	SAMD9L	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1647947	NM_152703.5(SAMD9L):c.858G>A (p.Glu286=)	SAMD9L	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1145382	NM_152703.5(SAMD9L):c.627G>A (p.Thr209=)	SAMD9L	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2877375	NM_152703.5(SAMD9L):c.543T>C (p.Tyr181=)	SAMD9L	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1334868	NM_152703.5(SAMD9L):c.515A>G (p.His172Arg)	SAMD9L (H172R)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 1429422	NM_152703.5(SAMD9L):c.505G>C (p.Asp169His)	SAMD9L (D169H)	Single nucleotide variant (missense variant)	SAMD9L-related disorder +1 more	GUncertain significance
Select item 2632598	NM_152703.5(SAMD9L):c.389A>G (p.Lys130Arg)	SAMD9L (K130R)	Single nucleotide variant (missense variant)	SAMD9L-related disorder	GUncertain significance
Select item 1442453	NM_152703.5(SAMD9L):c.328GAA[2] (p.Glu112del)	SAMD9L (E112del)	Microsatellite (inframe_deletion)	not provided +1 more	GUncertain significance
Select item 1053352	NM_152703.5(SAMD9L):c.308dup (p.Asn103fs)	SAMD9L (N103fs)	Duplication (frameshift variant)	SAMD9L-related disorder +3 more	GUncertain significance
Select item 1802073	NM_152703.5(SAMD9L):c.303delinsAA (p.Asn103fs)	SAMD9L (N103fs)	Indel (frameshift variant)	not provided +1 more	GUncertain significance
Select item 1170232	NM_152703.5(SAMD9L):c.303G>A (p.Gln101=)	SAMD9L	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 1665275	NM_152703.5(SAMD9L):c.285G>A (p.Pro95=)	SAMD9L	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1403374	NM_152703.5(SAMD9L):c.260C>T (p.Pro87Leu)	SAMD9L (P87L)	Single nucleotide variant (missense variant)	SAMD9L-related disorder +1 more	GUncertain significance
Select item 3060491	NM_152703.5(SAMD9L):c.172A>G (p.Met58Val)	SAMD9L (M58V)	Single nucleotide variant (missense variant)	SAMD9L-related disorder	GUncertain significance
Select item 2345740	NM_152703.5(SAMD9L):c.50A>G (p.Glu17Gly)	SAMD9L (E17G)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 3053605	NM_152703.5(SAMD9L):c.10C>G (p.Gln4Glu)	SAMD9L (Q4E)	Single nucleotide variant (missense variant)	SAMD9L-related disorder	GUncertain significance

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Items: 72