"Ambry Genetics"[submitter] AND "SAMD11"[gene] - ClinVar

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Items: 70

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1362713	NM_001385641.1(SAMD11):c.572T>C (p.Ile191Thr)	SAMD11 (I191T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1043045	NM_001385641.1(SAMD11):c.655G>A (p.Ala219Thr)	SAMD11 (A219T +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 972363	NM_001385641.1(SAMD11):c.658C>T (p.Arg220Trp)	SAMD11 (R41W +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1484446	NM_001385641.1(SAMD11):c.767C>T (p.Pro256Leu)	SAMD11 (P77L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 943630	NM_001385641.1(SAMD11):c.802C>T (p.His268Tyr)	SAMD11 (H89Y +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1047625	NM_001385641.1(SAMD11):c.827G>A (p.Arg276Gln)	SAMD11 (R97Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1484814	NM_001385641.1(SAMD11):c.863C>G (p.Thr288Ser)	SAMD11 (T109S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1008984	NM_001385641.1(SAMD11):c.890G>T (p.Arg297Leu)	SAMD11 (R118L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1085785	NM_001385641.1(SAMD11):c.910C>T (p.His304Tyr)	SAMD11 (H125Y +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2242101	NM_001385641.1(SAMD11):c.917G>A (p.Ser306Asn)	SAMD11 (S127N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1909476	NM_001385641.1(SAMD11):c.919C>T (p.Arg307Cys)	SAMD11 (R307C +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2537849	NM_001385641.1(SAMD11):c.946G>A (p.Glu316Lys)	SAMD11 (E316K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2306661	NM_001385641.1(SAMD11):c.989T>C (p.Leu330Pro)	SAMD11 (L151P +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2321337	NM_001385641.1(SAMD11):c.1027G>A (p.Glu343Lys)	SAMD11 (E343K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1427749	NM_001385641.1(SAMD11):c.1045G>A (p.Glu349Lys)	SAMD11 (E349K +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 946008	NM_001385641.1(SAMD11):c.1052C>T (p.Pro351Leu)	SAMD11 (P172L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2537657	NM_001385641.1(SAMD11):c.1195+18C>T	SAMD11 (H226Y)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1024192	NM_001385641.1(SAMD11):c.1195+25C>T	SAMD11 (P228L)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2284430	NM_001385641.1(SAMD11):c.1207G>A (p.Val403Ile)	SAMD11 (V404I +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1957959	NM_001385641.1(SAMD11):c.1228G>A (p.Ala410Thr)	SAMD11 (A247T +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2236197	NM_001385641.1(SAMD11):c.1250G>T (p.Gly417Val)	SAMD11 (G254V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 935894	NM_001385641.1(SAMD11):c.1252C>G (p.Leu418Val)	SAMD11 (L255V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1060766	NM_001385641.1(SAMD11):c.1291C>G (p.Arg431Gly)	SAMD11 (R268G +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2302573	NM_001385641.1(SAMD11):c.1321G>A (p.Gly441Ser)	SAMD11 (G278S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2533404	NM_001385641.1(SAMD11):c.1325C>G (p.Ala442Gly)	SAMD11 (A443G +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 938016	NM_001385641.1(SAMD11):c.1372C>T (p.Pro458Ser)	SAMD11 (P295S +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2217405	NM_001385641.1(SAMD11):c.1399G>A (p.Ala467Thr)	SAMD11 (A467T +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2290189	NM_001385641.1(SAMD11):c.1411G>A (p.Ala471Thr)	SAMD11 (A308T +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2372140	NM_001385641.1(SAMD11):c.1412C>T (p.Ala471Val)	SAMD11 (A472V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 840316	NM_001385641.1(SAMD11):c.1420C>T (p.Pro474Ser)	SAMD11 (P311S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2554813	NM_001385641.1(SAMD11):c.1426C>G (p.Leu476Val)	SAMD11 (L476V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2334732	NM_001385641.1(SAMD11):c.1535G>A (p.Arg512Gln)	SAMD11 (R512Q +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2230934	NM_001385641.1(SAMD11):c.1565C>T (p.Pro522Leu)	SAMD11 (P522L +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2485599	NM_001385641.1(SAMD11):c.1606C>T (p.Pro536Ser)	SAMD11 (P373S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2311726	NM_001385641.1(SAMD11):c.1607C>T (p.Pro536Leu)	SAMD11 (P373L +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 860480	NM_001385641.1(SAMD11):c.1609C>A (p.Gln537Lys)	SAMD11 (Q374K +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2333315	NM_001385641.1(SAMD11):c.1645G>A (p.Asp549Asn)	SAMD11 (D549N +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2245470	NM_001385641.1(SAMD11):c.1675G>A (p.Ala559Thr)	SAMD11 (A559T +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1473596	NM_001385641.1(SAMD11):c.1720C>T (p.Pro574Ser)	SAMD11 (P574S +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1355340	NM_001385641.1(SAMD11):c.1724C>A (p.Pro575His)	SAMD11 (P412H +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 956033	NM_001385641.1(SAMD11):c.1735C>T (p.Pro579Ser)	SAMD11 (P416S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2271988	NM_001385641.1(SAMD11):c.1739G>C (p.Gly580Ala)	SAMD11 (G417A +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1007375	NM_001385641.1(SAMD11):c.1757C>T (p.Pro586Leu)	SAMD11 (P423L +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2404228	NM_001385641.1(SAMD11):c.1766A>C (p.Asp589Ala)	SAMD11 (D590A +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 838673	NM_001385641.1(SAMD11):c.1771G>A (p.Ala591Thr)	SAMD11 (A428T +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 860462	NM_001385641.1(SAMD11):c.1774C>T (p.Arg592Trp)	SAMD11 (R429W +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 967631	NM_001385641.1(SAMD11):c.1786C>T (p.Arg596Trp)	SAMD11 (R433W +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2298977	NM_001385641.1(SAMD11):c.1796G>A (p.Gly599Asp)	SAMD11 (G599D +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1935101	NM_001385641.1(SAMD11):c.1810T>A (p.Ser604Thr)	SAMD11 (S605T +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2624141	NM_001385641.1(SAMD11):c.1843G>A (p.Gly615Arg)	SAMD11 (G452R +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1965813	NM_001385641.1(SAMD11):c.1868G>A (p.Gly623Asp)	SAMD11 (G460D +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2615331	NM_001385641.1(SAMD11):c.1904A>G (p.Glu635Gly)	SAMD11 (E635G +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2313926	NM_001385641.1(SAMD11):c.1945C>G (p.Pro649Ala)	SAMD11 (P486A +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 862235	NM_001385641.1(SAMD11):c.1960G>C (p.Ala654Pro)	SAMD11 (A491P +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1399461	NM_001385641.1(SAMD11):c.2030C>T (p.Ala677Val)	SAMD11 (A514V +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 839655	NM_001385641.1(SAMD11):c.2038C>T (p.Pro680Ser)	SAMD11 (P517S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2538497	NM_001385641.1(SAMD11):c.2098C>T (p.Pro700Ser)	LOC129929063, SAMD11 (P537S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1011134	NM_001385641.1(SAMD11):c.2113A>G (p.Lys705Glu)	LOC129929063, SAMD11 (K542E +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2235613	NM_001385641.1(SAMD11):c.2158G>A (p.Gly720Ser)	SAMD11 (G557S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 969117	NM_001385641.1(SAMD11):c.2164G>C (p.Gly722Arg)	SAMD11 (G559R +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 961140	NM_001385641.1(SAMD11):c.2195G>A (p.Gly732Glu)	SAMD11 (G569E +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1015683	NM_001385641.1(SAMD11):c.2210C>T (p.Thr737Ile)	SAMD11 (T574I +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2306220	NM_001385641.1(SAMD11):c.2212C>G (p.Leu738Val)	SAMD11 (L739V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 961202	NM_001385641.1(SAMD11):c.2215C>T (p.Pro739Ser)	SAMD11 (P576S +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 957950	NM_001385641.1(SAMD11):c.2324C>T (p.Ala775Val)	SAMD11 (A612V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2546352	NM_001385641.1(SAMD11):c.2345C>G (p.Pro782Arg)	SAMD11 (P782R +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 951713	NM_001385641.1(SAMD11):c.2356C>G (p.Pro786Ala)	SAMD11 (P623A +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 846628	NM_001385641.1(SAMD11):c.2378G>C (p.Arg793Pro)	SAMD11 (R630P +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 942854	NM_001385641.1(SAMD11):c.2455G>A (p.Gly819Ser)	SAMD11 (G656S +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1464773	NM_001385641.1(SAMD11):c.2527C>G (p.Leu843Val)	SAMD11 (L843V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance

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Items: 70