NNT[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 149824	GRCh38/hg38 5p15.33-q13.3(chr5:22149-74412725)x3	ACTBL2, ADAMTS12 +1445 more	Copy number gain	See cases	GPathogenic
Select item 146130	GRCh38/hg38 5p15.33-11(chr5:49978-46114984)x3	ADAMTS12, ADAMTS16 +953 more	Copy number gain	See cases	GPathogenic
Select item 58067	GRCh38/hg38 5p15.33-12(chr5:54839-45649861)x3	ADAMTS12, ADAMTS16 +952 more	Copy number gain	See cases	GPathogenic
Select item 2683745	GRCh38/hg38 5p13.3-12(chr5:29299893-45899898)x3	AGXT2, LOC121725200 +385 more	Copy number gain	See cases	GLikely pathogenic
Select item 148227	GRCh38/hg38 5p13.2-q12.1(chr5:35201559-61903141)x3	LOC126807363, LOC126807364 +518 more	Copy number gain	See cases	GPathogenic
Select item 58092	GRCh38/hg38 5p13.2-12(chr5:35700480-45260029)x3	LOC126807367, LOC126807368 +254 more	Copy number gain	See cases	GPathogenic
Select item 58093	GRCh38/hg38 5p13.2-q11.1(chr5:36374107-51103841)x3	ANXA2R, ANXA2R-AS1 +245 more	Copy number gain	See cases	GPathogenic
Select item 1325907	NM_182977.3(NNT):c.-26T>C	NNT	Single nucleotide variant (5 prime UTR variant)	Glucocorticoid deficiency 4	GBenign
Select item 2057667	NM_182977.3(NNT):c.12A>G (p.Leu4=)	NNT	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2037611	NM_182977.3(NNT):c.13T>C (p.Leu5=)	NNT	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2248078	NM_182977.3(NNT):c.38C>T (p.Ser13Leu)	NNT (S13L)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2862369	NM_182977.3(NNT):c.39G>A (p.Ser13=)	NNT	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1174913	NM_182977.3(NNT):c.46C>T (p.Leu16=)	NNT	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign
Select item 2042054	NM_182977.3(NNT):c.57T>C (p.Asn19=)	NNT	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GLikely benign
Select item 703892	NM_182977.3(NNT):c.80G>A (p.Arg27His)	NNT (R27H)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GBenign
Select item 800942	NM_182977.3(NNT):c.98dup (p.Leu33fs)	NNT (L33fs)	Duplication (5 prime UTR variant +1 more)	Glucocorticoid deficiency 4	GPathogenic
Select item 3200890	NM_182977.3(NNT):c.96T>G (p.Phe32Leu)	NNT (F32L)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2874751	NM_182977.3(NNT):c.105A>T (p.Thr35=)	NNT	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1554869	NM_182977.3(NNT):c.129G>C (p.Trp43Cys)	NNT (W43C)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 1604960	NM_182977.3(NNT):c.144A>G (p.Val48=)	NNT	Single nucleotide variant (5 prime UTR variant +1 more)	NNT-related disorder +1 more	GLikely benign
Select item 2620594	NM_182977.3(NNT):c.149C>T (p.Pro50Leu)	NNT (P50L)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2048973	NM_182977.3(NNT):c.151+12C>G	NNT	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1325908	NM_182977.3(NNT):c.152-26_152-25insA	NNT	Insertion (intron variant)	Glucocorticoid deficiency 4	GBenign
Select item 1962739	NM_182977.3(NNT):c.165G>A (p.Lys55=)	NNT	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1809628	NM_182977.3(NNT):c.188A>T (p.Lys63Ile)	NNT (K63I)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1671116	NM_182977.3(NNT):c.188A>G (p.Lys63Arg)	NNT (K63R)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 265844	NM_182977.3(NNT):c.211C>T (p.Arg71Ter)	NNT (R71*)	Single nucleotide variant (nonsense +1 more)	Glucocorticoid deficiency 4	GPathogenic
Select item 2207171	NM_182977.3(NNT):c.250A>G (p.Lys84Glu)	NNT (K84E)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2717859	NM_182977.3(NNT):c.270C>T (p.Val90=)	NNT	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2187493	NM_182977.3(NNT):c.285G>T (p.Ala95=)	NNT	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1539621	NM_182977.3(NNT):c.288C>A (p.Gly96=)	NNT	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2303603	NM_182977.3(NNT):c.307G>A (p.Asp103Asn)	NNT (D103N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2321586	NM_182977.3(NNT):c.349A>G (p.Lys117Glu)	NNT (K117E)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1599769	NM_182977.3(NNT):c.382-7dup	NNT	Duplication (intron variant)	not provided	GBenign
Select item 265843	NM_182977.3(NNT):c.385C>T (p.Arg129Ter)	NNT (R129*)	Single nucleotide variant (5 prime UTR variant +1 more)	Glucocorticoid deficiency 4	GPathogenic
Select item 2492135	NM_182977.3(NNT):c.391C>T (p.Pro131Ser)	NNT (P131S)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3052010	NM_182977.3(NNT):c.408A>G (p.Thr136=)	NNT	Single nucleotide variant (synonymous variant)	NNT-related disorder	GLikely benign
Select item 1964314	NM_182977.3(NNT):c.408A>T (p.Thr136=)	NNT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2077773	NM_182977.3(NNT):c.437A>C (p.Lys146Thr)	NNT (K15T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2349799	NM_182977.3(NNT):c.449C>T (p.Thr150Met)	NNT (T19M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2994955	NM_182977.3(NNT):c.450G>A (p.Thr150=)	NNT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2040690	NM_182977.3(NNT):c.453G>A (p.Leu151=)	NNT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2535621	NM_182977.3(NNT):c.455T>C (p.Ile152Thr)	NNT (I152T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2862161	NM_182977.3(NNT):c.480T>C (p.Asn160=)	NNT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2700906	NM_182977.3(NNT):c.523C>T (p.Leu175=)	NNT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1485912	NM_182977.3(NNT):c.523C>A (p.Leu175Met)	NNT (L175M +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2356394	NM_182977.3(NNT):c.553A>G (p.Ile185Val)	NNT (I54V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 767258	NM_182977.3(NNT):c.564A>T (p.Gly188=)	NNT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2693768	NM_182977.3(NNT):c.566A>G (p.Tyr189Cys)	NNT (Y189C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2722362	NM_182977.3(NNT):c.573G>A (p.Ala191=)	NNT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3007677	NM_182977.3(NNT):c.574C>T (p.Leu192=)	NNT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3253086	NM_182977.3(NNT):c.578G>A (p.Ser193Asn)	NNT (S193N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1394359	NM_182977.3(NNT):c.596C>T (p.Ala199Val)	NNT (A199V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 265842	NM_182977.3(NNT):c.598G>A (p.Gly200Ser)	NNT (G200S +1 more)	Single nucleotide variant (missense variant)	Glucocorticoid deficiency 4	GLikely pathogenic
Select item 3040831	NM_182977.3(NNT):c.600-32TTAT[4]	NNT	Microsatellite (intron variant)	NNT-related disorder	GLikely benign
Select item 35539	NM_182977.3(NNT):c.600-1del	NNT	Deletion (splice acceptor variant)	Glucocorticoid deficiency 4	GPathogenic
Select item 265839	NM_182977.3(NNT):c.644T>C (p.Phe215Ser)	NNT (F215S +1 more)	Single nucleotide variant (missense variant)	Glucocorticoid deficiency 4	GPathogenic
Select item 2230200	NM_182977.3(NNT):c.652C>G (p.Gln218Glu)	NNT (Q87E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2253116	NM_182977.3(NNT):c.670A>G (p.Lys224Glu)	NNT (K93E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2421790	NM_182977.3(NNT):c.687+7A>G	NNT	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1900762	NM_182977.3(NNT):c.687+8C>T	NNT	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1900763	NM_182977.3(NNT):c.687+9A>T	NNT	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1900764	NM_182977.3(NNT):c.687+10A>T	NNT	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1457600	NM_182977.3(NNT):c.687+11C>A	NNT	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3200889	NM_182977.3(NNT):c.697G>A (p.Val233Ile)	NNT (V233I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2027240	NM_182977.3(NNT):c.707G>T (p.Gly236Val)	NNT (G236V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2027241	NM_182977.3(NNT):c.776+1G>A	NNT	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 2230333	NM_182977.3(NNT):c.790G>A (p.Glu264Lys)	NNT (E133K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2252001	NM_182977.3(NNT):c.816G>C (p.Glu272Asp)	NNT (E272D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1934402	NM_182977.3(NNT):c.837G>C (p.Lys279Asn)	NNT (K279N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2174608	NM_182977.3(NNT):c.845G>A (p.Gly282Asp)	NNT (G151D +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2875116	NM_182977.3(NNT):c.871G>C (p.Glu291Gln)	NNT (E291Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2850399	NM_182977.3(NNT):c.989A>G (p.Asn330Ser)	NNT (N199S +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 2686048	NM_182977.3(NNT):c.1025T>C (p.Val342Ala)	NNT (V211A +1 more)	Single nucleotide variant (missense variant)	Glucocorticoid deficiency 4	GPathogenic
Select item 2019484	NM_182977.3(NNT):c.1034A>T (p.Asp345Val)	NNT (D214V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1705295	NM_182977.3(NNT):c.1089del (p.Leu362_Tyr363insTer)	NNT	Deletion (nonsense)	Glucocorticoid deficiency 4	GPathogenic
Select item 1581383	NM_182977.3(NNT):c.1098+15G>A	NNT	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 931319	NM_182977.3(NNT):c.1098+17T>C	NNT	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 2037794	NM_182977.3(NNT):c.1099-9T>A	NNT	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 35541	NM_182977.3(NNT):c.1107_1110del (p.Thr369_His370insTer)	NNT	Deletion (frameshift variant)	Glucocorticoid deficiency 4	GPathogenic
Select item 2973516	NM_182977.3(NNT):c.1155C>T (p.Ser385=)	NNT	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 265840	NM_182977.3(NNT):c.1163A>C (p.Tyr388Ser)	NNT (Y388S +1 more)	Single nucleotide variant (missense variant)	GLUCOCORTICOID DEFICIENCY 4 WITH MINERALOCORTICOID DEFICIENCY	GPathogenic
Select item 218365	NM_182977.3(NNT):c.1259dup (p.His421fs)	NNT (H290fs +1 more)	Duplication (frameshift variant)	Glucocorticoid deficiency 4	GPathogenic
Select item 3200883	NM_182977.3(NNT):c.1258G>T (p.Gly420Cys)	NNT (G289C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2127622	NM_182977.3(NNT):c.1262A>G (p.His421Arg)	NNT (H421R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2358775	NM_182977.3(NNT):c.1264G>A (p.Val422Ile)	NNT (V291I +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3036246	NM_182977.3(NNT):c.1280T>C (p.Val427Ala)	NNT (V296A +1 more)	Single nucleotide variant (missense variant)	NNT-related disorder	GLikely benign
Select item 2853083	NM_182977.3(NNT):c.1290+17A>G	NNT	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2026669	NM_182977.3(NNT):c.1290+17A>C	NNT	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2195113	NM_182977.3(NNT):c.1291-5A>G	NNT	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2476022	NM_182977.3(NNT):c.1315C>T (p.Pro439Ser)	NNT (P308S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1806575	NM_182977.3(NNT):c.1322C>T (p.Pro441Leu)	NNT (P310L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2379386	NM_182977.3(NNT):c.1345C>G (p.Pro449Ala)	NNT (P318A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2112825	NM_182977.3(NNT):c.1356_1357del (p.Lys453fs)	NNT (K453fs +1 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2375999	NM_182977.3(NNT):c.1358A>C (p.Lys453Thr)	NNT (K453T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1981748	NM_182977.3(NNT):c.1377A>G (p.Glu459=)	NNT	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 2276693	NM_182977.3(NNT):c.1383A>C (p.Glu461Asp)	NNT (E330D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2894103	NM_182977.3(NNT):c.1389A>G (p.Ala463=)	NNT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1030250	NM_182977.3(NNT):c.1424C>T (p.Thr475Met)	NNT (T344M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1572695	NM_182977.3(NNT):c.1444+10C>G	NNT	Single nucleotide variant (intron variant)	not provided	GLikely benign

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