ADSS1[gene] and "single gene"[properties] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3251526	NM_152328.5(ADSS1):c.192+3_192+21del	ADSS1	Deletion (splice donor variant +1 more)	not specified	GUncertain significance
Select item 2101148	NM_152328.5(ADSS1):c.193-5151_193-5126del	ADSS1 (M1fs)	Deletion (5 prime UTR variant +3 more)	not provided	GUncertain significance
Select item 1681871	NM_152328.5(ADSS1):c.193-5138_193-5113del	ADSS1 (M1fs)	Deletion (5 prime UTR variant +3 more)	not provided	GUncertain significance
Select item 3031731	NM_152328.5(ADSS1):c.193-5130G>A	ADSS1	Single nucleotide variant (5 prime UTR variant +1 more)	ADSS1-related disorder	GLikely benign
Select item 1960245	NM_152328.5(ADSS1):c.193-5127_193-5125delinsGTC	ADSS1 (M1V)	Indel (5 prime UTR variant +3 more)	not provided	GUncertain significance
Select item 1681872	NM_152328.5(ADSS1):c.193-5127A>G	ADSS1 (M1V)	Single nucleotide variant (5 prime UTR variant +3 more)	not provided	GUncertain significance
Select item 769403	NM_152328.5(ADSS1):c.193-5127A>C	ADSS1 (M1L)	Single nucleotide variant (5 prime UTR variant +3 more)	not provided +1 more	GBenign
Select item 1681874	NM_152328.5(ADSS1):c.193-5125G>T	ADSS1 (M1I)	Single nucleotide variant (5 prime UTR variant +3 more)	not provided	GUncertain significance
Select item 1681873	NM_152328.5(ADSS1):c.193-5125G>C	ADSS1 (M1I)	Single nucleotide variant (5 prime UTR variant +3 more)	not provided	GUncertain significance
Select item 1681875	NM_152328.5(ADSS1):c.193-5123T>G	ADSS1 (V2G)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 1189013	NM_152328.5(ADSS1):c.193-5122G>A	ADSS1	Single nucleotide variant (synonymous variant +2 more)	Myopathy, distal, 5 +1 more	GBenign
Select item 1947599	NM_152328.5(ADSS1):c.193-5115A>G	ADSS1 (S5G)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1681876	NM_152328.5(ADSS1):c.193-5106G>A	ADSS1 (V8M)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 2440052	NM_152328.5(ADSS1):c.193-5103del	ADSS1 (A9fs)	Deletion (5 prime UTR variant +2 more)	Myopathy, distal, 5	GLikely pathogenic
Select item 1681877	NM_152328.5(ADSS1):c.193-5102C>T	ADSS1 (A9V)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 2100962	NM_152328.5(ADSS1):c.193-5091C>G	ADSS1 (Q13E)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 1681878	NM_152328.5(ADSS1):c.193-5088G>A	ADSS1 (G14R)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 2555115	NM_152328.5(ADSS1):c.193-5085G>T	ADSS1 (G15C)	Single nucleotide variant (5 prime UTR variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2978241	NM_152328.5(ADSS1):c.193-5079C>T	ADSS1 (Q17*)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GPathogenic
Select item 1925089	NM_152328.5(ADSS1):c.193-5075G>A	ADSS1 (R18K)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided +1 more	GUncertain significance
Select item 3020123	NM_152328.5(ADSS1):c.193-5064C>T	ADSS1	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GLikely benign
Select item 1963688	NM_152328.5(ADSS1):c.193-5063T>G	ADSS1 (L22R)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 3091302	NM_152328.5(ADSS1):c.193-5061G>A	ADSS1 (A23T)	Single nucleotide variant (5 prime UTR variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 1911377	NM_152328.5(ADSS1):c.193-5058del	ADSS1	Deletion (nonsense +2 more)	not provided	GPathogenic
Select item 2727613	NM_152328.5(ADSS1):c.193-5059C>A	ADSS1	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GLikely benign
Select item 2075161	NM_152328.5(ADSS1):c.193-5057T>C	ADSS1 (L24P)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 2056622	NM_152328.5(ADSS1):c.193-5054C>G	ADSS1 (T25S)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 2106666	NM_152328.5(ADSS1):c.193-5037G>A	ADSS1 (A31T)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1988439	NM_152328.5(ADSS1):c.193-5037G>T	ADSS1 (A31S)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided +2 more	GUncertain significance
Select item 1681879	NM_152328.5(ADSS1):c.193-5036C>T	ADSS1 (A31V)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 1681880	NM_152328.5(ADSS1):c.193-5021T>C	ADSS1 (L36P)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 1681881	NM_152328.5(ADSS1):c.193-5017C>T	ADSS1	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GLikely benign
Select item 1932850	NM_152328.5(ADSS1):c.193-4995C>A	ADSS1 (Q45K)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 2438892	NM_152328.5(ADSS1):c.193-4994A>C	ADSS1 (Q45P)	Single nucleotide variant (5 prime UTR variant +2 more)	Myopathy, distal, 5	GUncertain significance
Select item 1189014	NM_152328.5(ADSS1):c.193-4992T>C	ADSS1	Single nucleotide variant (synonymous variant +2 more)	Myopathy, distal, 5 +1 more	GBenign
Select item 1681882	NM_152328.5(ADSS1):c.193-4988T>A	ADSS1 (L47Q)	Single nucleotide variant (5 prime UTR variant +2 more)	Myopathy, distal, 5 +1 more	GUncertain significance
Select item 1681883	NM_152328.5(ADSS1):c.193-4981C>T	ADSS1	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GLikely benign
Select item 1681884	NM_152328.5(ADSS1):c.193-4979A>G	ADSS1 (H50R)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 2976502	NM_152328.5(ADSS1):c.193-4975C>G	ADSS1	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GLikely benign
Select item 797167	NM_152328.5(ADSS1):c.193-4975C>A	ADSS1	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GLikely benign
Select item 2785587	NM_152328.5(ADSS1):c.193-4972G>A	ADSS1	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 710045	NM_152328.5(ADSS1):c.193-4966T>G	ADSS1	Single nucleotide variant (5 prime UTR variant +2 more)	not provided +1 more	GBenign
Select item 1907851	NM_152328.5(ADSS1):c.193-4956C>A	ADSS1 (P58T)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 775350	NM_152328.5(ADSS1):c.193-4955C>G	ADSS1 (P58R)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GBenign
Select item 725893	NM_152328.5(ADSS1):c.193-4951C>T	ADSS1	Single nucleotide variant (5 prime UTR variant +2 more)	ADSS1-related disorder +1 more	GLikely benign
Select item 1681885	NM_152328.5(ADSS1):c.193-4945C>G	ADSS1	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GLikely benign
Select item 1681886	NM_152328.5(ADSS1):c.193-4943G>T	ADSS1 (S62I)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 1681887	NM_152328.5(ADSS1):c.193-4939C>T	ADSS1	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GLikely benign
Select item 2184633	NM_152328.5(ADSS1):c.193-4926A>C	ADSS1 (T68P)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 1681888	NM_152328.5(ADSS1):c.193-4925C>A	ADSS1 (T68N)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 1944911	NM_152328.5(ADSS1):c.193-4916C>T	ADSS1 (T71M)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1959802	NM_152328.5(ADSS1):c.193-4915G>A	ADSS1	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GLikely benign
Select item 1681889	NM_152328.5(ADSS1):c.193-4911G>C	ADSS1 (G73R)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 2080479	NM_152328.5(ADSS1):c.193-4905G>A	ADSS1 (E75K)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 1681890	NM_152328.5(ADSS1):c.193-4905G>C	ADSS1 (E75Q)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 1967258	NM_152328.5(ADSS1):c.193-4903G>A	ADSS1	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GLikely benign
Select item 1963825	NM_152328.5(ADSS1):c.193-4902A>G	ADSS1 (R76G)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 3091259	NM_152328.5(ADSS1):c.193-4892G>T	ADSS1 (R79M)	Single nucleotide variant (5 prime UTR variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2183634	NM_152328.5(ADSS1):c.193-4888C>T	ADSS1	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GLikely benign
Select item 3047057	NM_152328.5(ADSS1):c.193-4876T>C	ADSS1	Single nucleotide variant (5 prime UTR variant +2 more)	ADSS1-related disorder	GLikely benign
Select item 1681891	NM_152328.5(ADSS1):c.193-4866C>T	ADSS1 (H88Y)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 2960003	NM_152328.5(ADSS1):c.193-4861C>T	ADSS1	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GLikely benign
Select item 2167818	NM_152328.5(ADSS1):c.193-4838G>A	ADSS1 (G97E)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 1979109	NM_152328.5(ADSS1):c.193-4836G>A	ADSS1 (A98T)	Single nucleotide variant (5 prime UTR variant +2 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1681892	NM_152328.5(ADSS1):c.193-4833G>A	ADSS1 (G99R)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 2135858	NM_152328.5(ADSS1):c.193-4823C>A	ADSS1 (T102K)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 2021138	NM_152328.5(ADSS1):c.193-4820C>T	ADSS1 (P103L)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 1681894	NM_152328.5(ADSS1):c.193-4819T>A	ADSS1	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GLikely benign
Select item 1955363	NM_152328.5(ADSS1):c.193-4816A>T	ADSS1	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 1681895	NM_152328.5(ADSS1):c.193-4809C>T	ADSS1 (R107W)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 1681896	NM_152328.5(ADSS1):c.193-4808G>A	ADSS1 (R107Q)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 1958830	NM_152328.5(ADSS1):c.193-4799C>T	ADSS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1681897	NM_152328.5(ADSS1):c.193-4799C>A	ADSS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1681898	NM_152328.5(ADSS1):c.193-4797G>T	ADSS1	Single nucleotide variant (intron variant)	ADSS1-related disorder +1 more	GLikely benign
Select item 1957166	NM_152328.5(ADSS1):c.193-4793C>T	ADSS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3024000	NM_152328.5(ADSS1):c.193-4792G>A	ADSS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1681899	NM_152328.5(ADSS1):c.193-4788A>C	ADSS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2088142	NM_152328.5(ADSS1):c.193-18G>T	ADSS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1681900	NM_152328.5(ADSS1):c.193-16C>T	ADSS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1936790	NM_152328.5(ADSS1):c.193-15G>A	ADSS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2096112	NM_152328.5(ADSS1):c.193-14G>A	ADSS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2748227	NM_152328.5(ADSS1):c.193-13G>T	ADSS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1681901	NM_152328.5(ADSS1):c.193-10del	ADSS1	Deletion (intron variant)	ADSS1-related disorder +1 more	GLikely benign
Select item 1068337	NM_152328.5(ADSS1):c.193-2del	ADSS1	Deletion (splice acceptor variant)	Myopathy, distal, 5 +1 more	GLikely pathogenic
Select item 2992714	NC_000014.9:g.104735024del	ADSS1	Deletion	not provided	GPathogenic
Select item 3091265	NM_152328.5(ADSS1):c.194G>A (p.Gly65Glu)	ADSS1 (G108E +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2438899	NM_152328.5(ADSS1):c.201C>G (p.Asn67Lys)	ADSS1 (N110K +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	Myopathy, distal, 5	GUncertain significance
Select item 1681902	NM_152328.5(ADSS1):c.204C>T (p.Asn68=)	ADSS1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1896456	NM_152328.5(ADSS1):c.205G>A (p.Ala69Thr)	ADSS1 (A69T +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1681903	NM_152328.5(ADSS1):c.207C>T (p.Ala69=)	ADSS1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1681904	NM_152328.5(ADSS1):c.208G>A (p.Gly70Ser)	ADSS1 (G113S +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2465241	NM_152328.5(ADSS1):c.215C>T (p.Thr72Met)	ADSS1 (T115M +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 707934	NM_152328.5(ADSS1):c.216G>A (p.Thr72=)	ADSS1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 3036385	NM_152328.5(ADSS1):c.225G>C (p.Val75=)	ADSS1	Single nucleotide variant (5 prime UTR variant +1 more)	ADSS1-related disorder	GLikely benign
Select item 1681905	NM_152328.5(ADSS1):c.231G>A (p.Gly77=)	ADSS1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1072836	NM_152328.5(ADSS1):c.233_234del (p.Lys78fs)	ADSS1 (K121fs +1 more)	Deletion (5 prime UTR variant +1 more)	not provided	GPathogenic
Select item 3036164	NM_152328.5(ADSS1):c.234A>G (p.Lys78=)	ADSS1	Single nucleotide variant (5 prime UTR variant +1 more)	ADSS1-related disorder	GLikely benign
Select item 1681906	NM_152328.5(ADSS1):c.241G>A (p.Asp81Asn)	ADSS1 (D124N +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2573873	NM_152328.5(ADSS1):c.247del (p.His83fs)	ADSS1 (H126fs +1 more)	Deletion (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2414752	NM_152328.5(ADSS1):c.246C>A (p.Phe82Leu)	ADSS1 (F125L +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance

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