30220[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 57771	GRCh38/hg38 3p21.31-14.3(chr3:49461000-55314500)x1	ABHD14A, ABHD14A-ACY1 +329 more	Copy number loss	See cases	GPathogenic
Select item 155564	GRCh38/hg38 3p21.2-14.3(chr3:51394434-55064449)x1	ABHD14A, ABHD14A-ACY1 +197 more	Copy number loss	See cases	GLikely pathogenic
Select item 901275	NM_052859.4(RFT1):c.*3348A>G	RFT1	Single nucleotide variant (3 prime UTR variant)	RFT1-congenital disorder of glycosylation	GUncertain significance
Select item 346134	NM_052859.4(RFT1):c.*3342T>C	RFT1	Single nucleotide variant (3 prime UTR variant)	Congenital disorder of glycosylation	GUncertain significance
Select item 901276	NM_052859.4(RFT1):c.*3286C>T	RFT1	Single nucleotide variant (3 prime UTR variant)	RFT1-congenital disorder of glycosylation	GUncertain significance
Select item 346135	NM_052859.4(RFT1):c.*3191A>G	RFT1	Single nucleotide variant (3 prime UTR variant)	RFT1-congenital disorder of glycosylation	GUncertain significance
Select item 901277	NM_052859.4(RFT1):c.*3093C>T	RFT1	Single nucleotide variant (3 prime UTR variant)	RFT1-congenital disorder of glycosylation	GUncertain significance
Select item 346136	NM_052859.4(RFT1):c.*3093C>G	RFT1	Single nucleotide variant (3 prime UTR variant)	RFT1-congenital disorder of glycosylation	GUncertain significance
Select item 346137	NM_052859.4(RFT1):c.*3068A>C	RFT1	Single nucleotide variant (3 prime UTR variant)	RFT1-congenital disorder of glycosylation	GUncertain significance
Select item 346138	NM_052859.4(RFT1):c.3053_3055del	RFT1	Deletion (3 prime UTR variant)	Congenital disorder of glycosylation	GUncertain significance
Select item 346139	NM_052859.4(RFT1):c.*2997C>G	RFT1	Single nucleotide variant (3 prime UTR variant)	RFT1-congenital disorder of glycosylation	GUncertain significance
Select item 901822	NM_052859.4(RFT1):c.*2996G>A	RFT1	Single nucleotide variant (3 prime UTR variant)	RFT1-congenital disorder of glycosylation	GUncertain significance
Select item 346140	NM_052859.4(RFT1):c.*2995C>T	RFT1	Single nucleotide variant (3 prime UTR variant)	RFT1-congenital disorder of glycosylation	GUncertain significance
Select item 901823	NM_052859.4(RFT1):c.*2992G>A	RFT1	Single nucleotide variant (3 prime UTR variant)	RFT1-congenital disorder of glycosylation	GUncertain significance
Select item 901824	NM_052859.4(RFT1):c.*2991C>T	RFT1	Single nucleotide variant (3 prime UTR variant)	RFT1-congenital disorder of glycosylation	GUncertain significance
Select item 346141	NM_052859.4(RFT1):c.*2950C>T	RFT1	Single nucleotide variant (3 prime UTR variant)	RFT1-congenital disorder of glycosylation +1 more	GBenign
Select item 346142	NM_052859.4(RFT1):c.*2887G>A	RFT1	Single nucleotide variant (3 prime UTR variant)	RFT1-congenital disorder of glycosylation +1 more	GBenign
Select item 346143	NM_052859.4(RFT1):c.*2840T>A	RFT1	Single nucleotide variant (3 prime UTR variant)	RFT1-congenital disorder of glycosylation +1 more	GBenign
Select item 346144	NM_052859.4(RFT1):c.*2820G>A	RFT1	Single nucleotide variant (3 prime UTR variant)	RFT1-congenital disorder of glycosylation	GUncertain significance
Select item 902727	NM_052859.4(RFT1):c.*2790G>A	RFT1	Single nucleotide variant (3 prime UTR variant)	RFT1-congenital disorder of glycosylation	GUncertain significance
Select item 346145	NM_052859.4(RFT1):c.*2789C>T	RFT1	Single nucleotide variant (3 prime UTR variant)	RFT1-congenital disorder of glycosylation	GUncertain significance
Select item 346146	NM_052859.4(RFT1):c.*2787G>C	RFT1	Single nucleotide variant (3 prime UTR variant)	RFT1-congenital disorder of glycosylation	GUncertain significance
Select item 346147	NM_052859.4(RFT1):c.*2706C>T	RFT1	Single nucleotide variant (3 prime UTR variant)	RFT1-congenital disorder of glycosylation	GUncertain significance
Select item 346148	NM_052859.4(RFT1):c.*2655T>C	RFT1	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 346149	NM_052859.4(RFT1):c.*2646T>C	RFT1	Single nucleotide variant (3 prime UTR variant)	RFT1-congenital disorder of glycosylation +1 more	GBenign
Select item 346150	NM_052859.4(RFT1):c.*2457A>G	RFT1	Single nucleotide variant (3 prime UTR variant)	RFT1-congenital disorder of glycosylation	GUncertain significance
Select item 900174	NM_052859.4(RFT1):c.*2453T>C	RFT1	Single nucleotide variant (3 prime UTR variant)	RFT1-congenital disorder of glycosylation	GUncertain significance
Select item 346151	NM_052859.4(RFT1):c.*2433C>T	RFT1	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 900175	NM_052859.4(RFT1):c.*2428G>A	RFT1	Single nucleotide variant (3 prime UTR variant)	RFT1-congenital disorder of glycosylation	GUncertain significance
Select item 346152	NM_052859.4(RFT1):c.*2427G>A	RFT1	Single nucleotide variant (3 prime UTR variant)	RFT1-congenital disorder of glycosylation	GUncertain significance
Select item 346153	NM_052859.4(RFT1):c.*2366T>A	RFT1	Single nucleotide variant (3 prime UTR variant)	RFT1-congenital disorder of glycosylation	GUncertain significance
Select item 346154	NM_052859.4(RFT1):c.*2350C>T	RFT1	Single nucleotide variant (3 prime UTR variant)	RFT1-congenital disorder of glycosylation	GUncertain significance
Select item 901337	NM_052859.4(RFT1):c.*2280T>A	RFT1	Single nucleotide variant (3 prime UTR variant)	RFT1-congenital disorder of glycosylation	GUncertain significance
Select item 346155	NM_052859.4(RFT1):c.*2255A>C	RFT1	Single nucleotide variant (3 prime UTR variant)	RFT1-congenital disorder of glycosylation	GUncertain significance
Select item 346156	NM_052859.4(RFT1):c.*2215G>A	RFT1	Single nucleotide variant (3 prime UTR variant)	RFT1-congenital disorder of glycosylation	GUncertain significance
Select item 346157	NM_052859.4(RFT1):c.*2214C>T	RFT1	Single nucleotide variant (3 prime UTR variant)	RFT1-congenital disorder of glycosylation	GUncertain significance
Select item 901338	NM_052859.4(RFT1):c.*2187A>G	RFT1	Single nucleotide variant (3 prime UTR variant)	RFT1-congenital disorder of glycosylation	GUncertain significance
Select item 346158	NM_052859.4(RFT1):c.*2165T>C	RFT1	Single nucleotide variant (3 prime UTR variant)	RFT1-congenital disorder of glycosylation	GUncertain significance
Select item 346159	NM_052859.4(RFT1):c.*2161C>T	RFT1	Single nucleotide variant (3 prime UTR variant)	RFT1-congenital disorder of glycosylation	GUncertain significance
Select item 901891	NM_052859.4(RFT1):c.*2076C>T	RFT1	Single nucleotide variant (3 prime UTR variant)	RFT1-congenital disorder of glycosylation	GUncertain significance
Select item 901892	NM_052859.4(RFT1):c.*2052A>G	RFT1	Single nucleotide variant (3 prime UTR variant)	RFT1-congenital disorder of glycosylation	GUncertain significance
Select item 346160	NM_052859.4(RFT1):c.*1975C>T	RFT1	Single nucleotide variant (3 prime UTR variant)	RFT1-congenital disorder of glycosylation	GBenign
Select item 346161	NM_052859.4(RFT1):c.*1901G>A	RFT1	Single nucleotide variant (3 prime UTR variant)	RFT1-congenital disorder of glycosylation	GUncertain significance
Select item 901893	NM_052859.4(RFT1):c.*1900C>T	RFT1	Single nucleotide variant (3 prime UTR variant)	RFT1-congenital disorder of glycosylation	GUncertain significance
Select item 346162	NM_052859.4(RFT1):c.*1804C>T	RFT1	Single nucleotide variant (3 prime UTR variant)	RFT1-congenital disorder of glycosylation	GBenign
Select item 346163	NM_052859.4(RFT1):c.*1803T>A	RFT1	Single nucleotide variant (3 prime UTR variant)	RFT1-congenital disorder of glycosylation	GBenign
Select item 902790	NM_052859.4(RFT1):c.*1693G>A	RFT1	Single nucleotide variant (3 prime UTR variant)	RFT1-congenital disorder of glycosylation	GUncertain significance
Select item 346164	NM_052859.4(RFT1):c.*1693G>T	RFT1	Single nucleotide variant (3 prime UTR variant)	RFT1-congenital disorder of glycosylation	GUncertain significance
Select item 346165	NM_052859.4(RFT1):c.*1533G>A	RFT1	Single nucleotide variant (3 prime UTR variant)	RFT1-congenital disorder of glycosylation +1 more	GBenign
Select item 346166	NM_052859.4(RFT1):c.*1271A>C	RFT1	Single nucleotide variant (3 prime UTR variant)	RFT1-congenital disorder of glycosylation	GUncertain significance
Select item 346167	NM_052859.4(RFT1):c.*1124T>A	RFT1	Single nucleotide variant (3 prime UTR variant)	RFT1-congenital disorder of glycosylation	GUncertain significance
Select item 902791	NM_052859.4(RFT1):c.*1117G>C	RFT1	Single nucleotide variant (3 prime UTR variant)	RFT1-congenital disorder of glycosylation	GUncertain significance
Select item 346168	NM_052859.4(RFT1):c.*1009G>A	RFT1	Single nucleotide variant (3 prime UTR variant)	RFT1-congenital disorder of glycosylation	GBenign
Select item 902792	NM_052859.4(RFT1):c.*972A>G	RFT1	Single nucleotide variant (3 prime UTR variant)	RFT1-congenital disorder of glycosylation	GUncertain significance
Select item 900238	NM_052859.4(RFT1):c.*968A>G	RFT1	Single nucleotide variant (3 prime UTR variant)	RFT1-congenital disorder of glycosylation	GUncertain significance
Select item 900239	NM_052859.4(RFT1):c.*880C>G	RFT1	Single nucleotide variant (3 prime UTR variant)	RFT1-congenital disorder of glycosylation	GUncertain significance
Select item 346169	NM_052859.4(RFT1):c.*861A>G	RFT1	Single nucleotide variant (3 prime UTR variant)	RFT1-congenital disorder of glycosylation	GUncertain significance
Select item 346170	NM_052859.4(RFT1):c.*799T>A	RFT1	Single nucleotide variant (3 prime UTR variant)	RFT1-congenital disorder of glycosylation	GLikely benign
Select item 900240	NM_052859.4(RFT1):c.*649G>A	RFT1	Single nucleotide variant (3 prime UTR variant)	RFT1-congenital disorder of glycosylation	GUncertain significance
Select item 346171	NM_052859.4(RFT1):c.*645C>T	RFT1	Single nucleotide variant (3 prime UTR variant)	RFT1-congenital disorder of glycosylation	GUncertain significance
Select item 346172	NM_052859.4(RFT1):c.*622C>G	RFT1	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 346173	NM_052859.4(RFT1):c.*609C>T	RFT1	Single nucleotide variant (3 prime UTR variant)	RFT1-congenital disorder of glycosylation	GUncertain significance
Select item 346174	NM_052859.4(RFT1):c.*490T>A	RFT1	Single nucleotide variant (3 prime UTR variant)	RFT1-congenital disorder of glycosylation +1 more	GBenign
Select item 346175	NM_052859.4(RFT1):c.*450C>T	RFT1	Single nucleotide variant (3 prime UTR variant)	RFT1-congenital disorder of glycosylation +1 more	GBenign
Select item 901393	NM_052859.4(RFT1):c.*441C>A	RFT1	Single nucleotide variant (3 prime UTR variant)	RFT1-congenital disorder of glycosylation	GUncertain significance
Select item 901394	NM_052859.4(RFT1):c.*423G>A	RFT1	Single nucleotide variant (3 prime UTR variant)	RFT1-congenital disorder of glycosylation	GUncertain significance
Select item 346176	NM_052859.4(RFT1):c.*405G>T	RFT1	Single nucleotide variant (3 prime UTR variant)	RFT1-congenital disorder of glycosylation	GUncertain significance
Select item 346177	NM_052859.4(RFT1):c.*334A>G	RFT1	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 901947	NM_052859.4(RFT1):c.*295C>T	RFT1	Single nucleotide variant (3 prime UTR variant)	RFT1-congenital disorder of glycosylation	GUncertain significance
Select item 346178	NM_052859.4(RFT1):c.*242T>C	RFT1	Single nucleotide variant (3 prime UTR variant)	RFT1-congenital disorder of glycosylation	GUncertain significance
Select item 901948	NM_052859.4(RFT1):c.*240T>C	RFT1	Single nucleotide variant (3 prime UTR variant)	RFT1-congenital disorder of glycosylation	GLikely benign
Select item 346179	NM_052859.4(RFT1):c.*184G>C	RFT1	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GUncertain significance
Select item 901949	NM_052859.4(RFT1):c.*182G>C	RFT1	Single nucleotide variant (3 prime UTR variant)	RFT1-congenital disorder of glycosylation	GUncertain significance
Select item 346180	NM_052859.4(RFT1):c.*153C>T	RFT1	Single nucleotide variant (3 prime UTR variant)	RFT1-congenital disorder of glycosylation	GUncertain significance
Select item 346181	NM_052859.4(RFT1):c.*146C>T	RFT1	Single nucleotide variant (3 prime UTR variant)	RFT1-congenital disorder of glycosylation +1 more	GBenign
Select item 346182	NM_052859.4(RFT1):c.*127G>A	RFT1	Single nucleotide variant (3 prime UTR variant)	RFT1-congenital disorder of glycosylation	GUncertain significance
Select item 902845	NM_052859.4(RFT1):c.*116C>G	RFT1	Single nucleotide variant (3 prime UTR variant)	RFT1-congenital disorder of glycosylation	GUncertain significance
Select item 902846	NM_052859.4(RFT1):c.*84A>T	RFT1	Single nucleotide variant (3 prime UTR variant)	RFT1-congenital disorder of glycosylation	GUncertain significance
Select item 96246	NM_052859.4(RFT1):c.1623A>G (p.Thr541=)	RFT1	Single nucleotide variant (synonymous variant)	RFT1-congenital disorder of glycosylation +2 more	GBenign
Select item 2737478	NM_052859.4(RFT1):c.1608C>T (p.Arg536=)	RFT1	Single nucleotide variant (synonymous variant)	RFT1-congenital disorder of glycosylation	GLikely benign
Select item 1990140	NM_052859.4(RFT1):c.1608C>G (p.Arg536=)	RFT1	Single nucleotide variant (synonymous variant)	RFT1-congenital disorder of glycosylation	GLikely benign
Select item 1435992	NM_052859.4(RFT1):c.1607G>A (p.Arg536His)	RFT1 (R536H)	Single nucleotide variant (missense variant)	RFT1-congenital disorder of glycosylation	GUncertain significance
Select item 1588700	NM_052859.4(RFT1):c.1606C>T (p.Arg536Cys)	RFT1 (R536C)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 1567614	NM_052859.4(RFT1):c.1599G>A (p.Val533=)	RFT1	Single nucleotide variant (synonymous variant)	RFT1-congenital disorder of glycosylation	GLikely benign
Select item 1360971	NM_052859.4(RFT1):c.1598T>C (p.Val533Ala)	RFT1 (V533A)	Single nucleotide variant (missense variant)	RFT1-congenital disorder of glycosylation	GUncertain significance
Select item 1998492	NM_052859.4(RFT1):c.1597G>T (p.Val533Leu)	RFT1 (V533L)	Single nucleotide variant (missense variant)	RFT1-congenital disorder of glycosylation	GUncertain significance
Select item 1358165	NM_052859.4(RFT1):c.1595G>T (p.Gly532Val)	RFT1 (G532V)	Single nucleotide variant (missense variant)	RFT1-congenital disorder of glycosylation	GUncertain significance
Select item 1366941	NM_052859.4(RFT1):c.1590G>C (p.Gln530His)	RFT1 (Q530H)	Single nucleotide variant (missense variant)	RFT1-congenital disorder of glycosylation	GUncertain significance
Select item 2294749	NM_052859.4(RFT1):c.1582A>G (p.Arg528Gly)	RFT1 (R528G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1548868	NM_052859.4(RFT1):c.1581C>T (p.Leu527=)	RFT1	Single nucleotide variant (synonymous variant)	RFT1-congenital disorder of glycosylation	GLikely benign
Select item 1942024	NM_052859.4(RFT1):c.1570A>T (p.Ile524Phe)	RFT1 (I524F)	Single nucleotide variant (missense variant)	RFT1-congenital disorder of glycosylation	GUncertain significance
Select item 1518097	NM_052859.4(RFT1):c.1560G>C (p.Glu520Asp)	RFT1 (E520D)	Single nucleotide variant (missense variant)	RFT1-congenital disorder of glycosylation	GUncertain significance
Select item 507030	NM_052859.4(RFT1):c.1560G>A (p.Glu520=)	RFT1	Single nucleotide variant (synonymous variant)	RFT1-congenital disorder of glycosylation +1 more	GLikely benign
Select item 2413211	NM_052859.4(RFT1):c.1555A>G (p.Thr519Ala)	RFT1 (T519A)	Single nucleotide variant (missense variant)	RFT1-congenital disorder of glycosylation	GUncertain significance
Select item 1009089	NM_052859.4(RFT1):c.1546G>T (p.Ala516Ser)	RFT1 (A516S)	Single nucleotide variant (missense variant)	RFT1-congenital disorder of glycosylation	GUncertain significance
Select item 1467314	NM_052859.4(RFT1):c.1540G>A (p.Gly514Arg)	RFT1 (G514R)	Single nucleotide variant (missense variant)	RFT1-congenital disorder of glycosylation	GUncertain significance
Select item 902847	NM_052859.4(RFT1):c.1529G>A (p.Gly510Glu)	RFT1 (G510E)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1995286	NM_052859.4(RFT1):c.1521C>G (p.Phe507Leu)	RFT1 (F507L)	Single nucleotide variant (missense variant)	RFT1-congenital disorder of glycosylation	GUncertain significance
Select item 1496008	NM_052859.4(RFT1):c.1516G>A (p.Ala506Thr)	RFT1 (A506T)	Single nucleotide variant (missense variant)	RFT1-congenital disorder of glycosylation	GUncertain significance
Select item 2731462	NM_052859.4(RFT1):c.1515G>A (p.Gly505=)	RFT1	Single nucleotide variant (synonymous variant)	RFT1-congenital disorder of glycosylation	GLikely benign

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