ClinVar for Gene (Select 148398) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3316076	NM_001385641.1(SAMD11):c.1732C>A (p.Pro578Thr)	SAMD11 (P415T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3316075	NM_001385641.1(SAMD11):c.856C>T (p.Leu286Phe)	SAMD11 (L107F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3316074	NM_001385641.1(SAMD11):c.2202C>G (p.Asp734Glu)	SAMD11 (D735E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3316072	NM_001385641.1(SAMD11):c.1501G>T (p.Ala501Ser)	SAMD11 (A338S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3316071	NM_001385641.1(SAMD11):c.2243C>T (p.Thr748Ile)	SAMD11 (T749I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3248027	NC_000001.10:g.(?_861322)_(879533_?)dup	SAMD11	Duplication	not provided	GUncertain significance
Select item 3157641	NM_001385641.1(SAMD11):c.1241G>A (p.Gly414Asp)	SAMD11 (G251D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3157640	NM_001385641.1(SAMD11):c.1195+3G>A	SAMD11 (E221K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3157639	NM_001385641.1(SAMD11):c.1115G>C (p.Arg372Pro)	SAMD11 (R372P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3157638	NM_001385641.1(SAMD11):c.1114C>T (p.Arg372Cys)	SAMD11 (R373C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3157637	NM_001385641.1(SAMD11):c.998C>A (p.Ser333Tyr)	SAMD11 (S333Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3157635	NM_001385641.1(SAMD11):c.782T>C (p.Met261Thr)	SAMD11 (M261T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3157634	NM_001385641.1(SAMD11):c.779T>C (p.Ile260Thr)	SAMD11 (I260T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3157633	NM_001385641.1(SAMD11):c.2258A>G (p.Lys753Arg)	SAMD11 (K753R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3157632	NM_001385641.1(SAMD11):c.2174C>T (p.Thr725Ile)	SAMD11 (T726I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3157628	NM_001385641.1(SAMD11):c.1753A>C (p.Thr585Pro)	SAMD11 (T422P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063255	GRCh37/hg19 1p36.33-36.32(chr1:849466-4529103)x3	ACAP3, ACTRT2 +76 more	Copy number gain	not specified	GPathogenic
Select item 3063233	GRCh37/hg19 1p36.33-36.23(chr1:849466-8966102)x1	RNF207, RNF223 +108 more	Copy number loss	not specified	GPathogenic
Select item 3048460	NM_001385641.1(SAMD11):c.1359-10_1386del	SAMD11	Deletion (splice acceptor variant)	SAMD11-related disorder	GUncertain significance
Select item 3039004	NM_001385641.1(SAMD11):c.2179-6T>A	SAMD11	Single nucleotide variant (intron variant)	SAMD11-related disorder	GLikely benign
Select item 3038970	NM_001385641.1(SAMD11):c.610-73GCCCCACCTTCCTCTCCTCCT[2]	SAMD11	Microsatellite (intron variant)	SAMD11-related disorder	GLikely benign
Select item 3033638	NM_001385641.1(SAMD11):c.1554-19_1554-9dup	SAMD11	Duplication (intron variant)	SAMD11-related disorder	GLikely benign
Select item 3015869	NM_001385641.1(SAMD11):c.1017C>T (p.Asp339=)	SAMD11	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3011712	NM_001385641.1(SAMD11):c.1623C>G (p.Pro541=)	SAMD11	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2999850	NM_001385641.1(SAMD11):c.967+15G>C	SAMD11	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2998369	NM_001385641.1(SAMD11):c.711C>T (p.Ser237=)	SAMD11	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2998140	NM_001385641.1(SAMD11):c.2268C>T (p.Pro756=)	SAMD11	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2994226	NM_001385641.1(SAMD11):c.968-16C>T	SAMD11	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2994123	NM_001385641.1(SAMD11):c.2139C>T (p.Ser713=)	LOC129929063, SAMD11	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2990083	NM_001385641.1(SAMD11):c.1548G>A (p.Leu516=)	SAMD11	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2988986	NM_001385641.1(SAMD11):c.1752C>T (p.Pro584=)	SAMD11	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2985707	NM_001385641.1(SAMD11):c.2053+12C>T	SAMD11	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2981547	NM_001385641.1(SAMD11):c.967+17G>T	SAMD11	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2981164	NM_001385641.1(SAMD11):c.1553+2_1554-34del	SAMD11	Deletion (splice donor variant)	not provided	GUncertain significance
Select item 2980873	NM_001385641.1(SAMD11):c.951T>C (p.Ile317=)	SAMD11	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2977901	NM_001385641.1(SAMD11):c.2439G>C (p.Gly813=)	SAMD11	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2973964	NM_001385641.1(SAMD11):c.1553+17G>A	SAMD11	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2972437	NM_001385641.1(SAMD11):c.1032G>A (p.Lys344=)	SAMD11	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2972382	NM_001385641.1(SAMD11):c.2289+18G>C	SAMD11	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2967525	NM_001385641.1(SAMD11):c.2523G>A (p.Gln841=)	SAMD11	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2961541	NM_001385641.1(SAMD11):c.2370C>A (p.Ala790=)	SAMD11	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2961285	NM_001385641.1(SAMD11):c.2053+20A>G	SAMD11	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2961023	NM_001385641.1(SAMD11):c.2179-8C>T	SAMD11	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2961005	NM_001385641.1(SAMD11):c.1441C>T (p.Leu481=)	SAMD11	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2957935	NM_001385641.1(SAMD11):c.609+13G>T	SAMD11	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2906307	NM_001385641.1(SAMD11):c.1488G>A (p.Leu496=)	SAMD11	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2877529	NM_001385641.1(SAMD11):c.1554-12C>A	SAMD11	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2876353	NM_001385641.1(SAMD11):c.690C>T (p.Phe230=)	SAMD11	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2868636	NM_001385641.1(SAMD11):c.2316C>T (p.Phe772=)	SAMD11	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2867857	NM_001385641.1(SAMD11):c.1482C>A (p.Gly494=)	SAMD11	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2852271	NM_001385641.1(SAMD11):c.2022C>T (p.Phe674=)	SAMD11	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2848877	NM_001385641.1(SAMD11):c.1358+11G>C	SAMD11	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2844086	NM_001385641.1(SAMD11):c.1449G>A (p.Val483=)	SAMD11	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2842276	NM_001385641.1(SAMD11):c.1374G>A (p.Pro458=)	SAMD11	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2826858	NM_001385641.1(SAMD11):c.1781C>T (p.Ala594Val)	SAMD11 (A431V +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2812960	NM_001385641.1(SAMD11):c.1425T>C (p.His475=)	SAMD11	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2812632	NM_001385641.1(SAMD11):c.2053+13A>G	SAMD11	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2810120	NM_001385641.1(SAMD11):c.1553+13A>C	SAMD11	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2790198	NM_001385641.1(SAMD11):c.2290-16G>A	SAMD11	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2788113	NM_001385641.1(SAMD11):c.2534G>A (p.Ter845=)	SAMD11	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2787931	NM_001385641.1(SAMD11):c.1717C>T (p.Leu573=)	SAMD11	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2787249	NM_001385641.1(SAMD11):c.1641C>T (p.Pro547=)	SAMD11	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2782311	NM_001385641.1(SAMD11):c.1995C>T (p.Phe665=)	SAMD11	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2779648	NM_001385641.1(SAMD11):c.1626G>A (p.Glu542=)	SAMD11	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2776949	NM_001385641.1(SAMD11):c.1303C>T (p.Leu435=)	SAMD11	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2776743	NM_001385641.1(SAMD11):c.1553+22_1553+29dup	SAMD11	Duplication (intron variant)	not provided	GLikely benign
Select item 2757326	NM_001385641.1(SAMD11):c.967+13G>A	SAMD11	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2749095	NM_001385641.1(SAMD11):c.1242C>G (p.Gly414=)	SAMD11	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2730452	NM_001385641.1(SAMD11):c.2037C>T (p.Ser679=)	SAMD11	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2717525	NM_001385641.1(SAMD11):c.2064G>A (p.Gly688=)	LOC129929063, SAMD11	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2713604	NM_001385641.1(SAMD11):c.1926T>G (p.Val642=)	SAMD11	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2685786	GRCh37/hg19 1p36.33(chr1:849467-1207958)x3	AGRN, B3GALT6 +17 more	Copy number gain	not provided	GUncertain significance
Select item 2685266	GRCh37/hg19 1p36.33-36.32(chr1:849467-3500877)x1	SCNN1D, SDF4 +67 more	Copy number loss	not provided	GPathogenic
Select item 2685255	GRCh37/hg19 1p36.33(chr1:849467-1089576)x1	AGRN, C1orf159 +7 more	Copy number loss	not provided	GUncertain significance
Select item 2685244	GRCh37/hg19 1p36.33-36.22(chr1:849467-9627901)x1	ACAP3, ACOT7 +116 more	Copy number loss	not provided	GPathogenic
Select item 2664871	GRCh38/hg38 1p36.33-35.1(chr1:99125-34026935)x3	A2ML1-AS2, A3GALT2 +2151 more	Copy number gain	Trisomy 12p	GPathogenic
Select item 2631721	NM_001385641.1(SAMD11):c.716G>A (p.Gly239Glu)	SAMD11 (G239E +1 more)	Single nucleotide variant (missense variant)	SAMD11-related disorder	GUncertain significance
Select item 2624141	NM_001385641.1(SAMD11):c.1843G>A (p.Gly615Arg)	SAMD11 (G452R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2615331	NM_001385641.1(SAMD11):c.1904A>G (p.Glu635Gly)	SAMD11 (E635G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2570762	GRCh37/hg19 1p36.33-36.31(chr1:536777-6012896)x1	ACAP3, ACTRT2 +79 more	Copy number loss	not provided	GPathogenic
Select item 2554813	NM_001385641.1(SAMD11):c.1426C>G (p.Leu476Val)	SAMD11 (L476V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2546352	NM_001385641.1(SAMD11):c.2345C>G (p.Pro782Arg)	SAMD11 (P782R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2538497	NM_001385641.1(SAMD11):c.2098C>T (p.Pro700Ser)	LOC129929063, SAMD11 (P537S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2537849	NM_001385641.1(SAMD11):c.946G>A (p.Glu316Lys)	SAMD11 (E316K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2537657	NM_001385641.1(SAMD11):c.1195+18C>T	SAMD11 (H226Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2533404	NM_001385641.1(SAMD11):c.1325C>G (p.Ala442Gly)	SAMD11 (A443G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2501007	GRCh37/hg19 1p36.33-36.32(chr1:1-2580976)x1	ACAP3, AGRN +65 more	Copy number loss	Chromosome 1p36 deletion syndrome	GPathogenic
Select item 2485599	NM_001385641.1(SAMD11):c.1606C>T (p.Pro536Ser)	SAMD11 (P373S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2427912	NM_001385641.1(SAMD11):c.1976C>G (p.Ala659Gly)	SAMD11 (A496G +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2427391	NC_000001.10:g.(?_874400)_(879533_?)dup	SAMD11	Duplication	not provided	GUncertain significance
Select item 2427390	NC_000001.10:g.(?_865515)_(866489_?)dup	SAMD11	Duplication	not provided	GUncertain significance
Select item 2427389	NC_000001.10:g.(?_878613)_(879533_?)dup	SAMD11	Duplication	not provided	GUncertain significance
Select item 2425297	NC_000001.10:g.(?_861322)_(948976_?)dup	HES4, ISG15 +4 more	Duplication	Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency	GUncertain significance
Select item 2421647	NM_001385641.1(SAMD11):c.2228A>T (p.Glu743Val)	SAMD11 (E580V +2 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2421646	NM_001385641.1(SAMD11):c.1817G>A (p.Arg606Gln)	SAMD11 (R443Q +2 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2417769	NM_001385641.1(SAMD11):c.1195+24_1195+25insTCCCCTCATCACCTCCCCAGCCACGGTGAGGACCCACCCTGGCATGATC	SAMD11	Insertion (nonsense +1 more)	not provided	GUncertain significance
Select item 2416556	NM_001385641.1(SAMD11):c.1906G>A (p.Asp636Asn)	SAMD11 (D473N +2 more)	Single nucleotide variant (missense variant)	not specified +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)	not specified	GUncertain significance
Select item 2372140	NM_001385641.1(SAMD11):c.1412C>T (p.Ala471Val)	SAMD11 (A472V +2 more)	Single nucleotide variant (missense variant)	not specified	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

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