ClinVar for Gene (Select 55603) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3348220	NM_017633.3(TENT5A):c.116G>A (p.Gly39Asp)	TENT5A (G39D)	Single nucleotide variant (missense variant)	TENT5A-related disorder	GUncertain significance
Select item 3346529	NM_017633.3(TENT5A):c.82G>A (p.Gly28Ser)	TENT5A (G28S)	Single nucleotide variant (missense variant)	TENT5A-related disorder	GUncertain significance
Select item 3325390	NM_017633.3(TENT5A):c.571A>C (p.Met191Leu)	TENT5A (M191L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3325389	NM_017633.3(TENT5A):c.94T>A (p.Phe32Ile)	TENT5A (F32I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3234246	NM_017633.3(TENT5A):c.136G>A (p.Gly46Ser)	TENT5A (G46S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3176043	NM_017633.3(TENT5A):c.517G>T (p.Val173Leu)	TENT5A (V173L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3176042	NM_017633.3(TENT5A):c.421G>T (p.Asp141Tyr)	TENT5A (D141Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3176041	NM_017633.3(TENT5A):c.335G>A (p.Arg112His)	TENT5A (R112H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3176040	NM_017633.3(TENT5A):c.188G>C (p.Cys63Ser)	TENT5A (C63S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3176039	NM_017633.3(TENT5A):c.16G>A (p.Gly6Arg)	TENT5A (G6R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3007213	NM_017633.3(TENT5A):c.297G>A (p.Leu99=)	TENT5A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2982011	NM_017633.3(TENT5A):c.157T>C (p.Leu53=)	TENT5A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2981799	NM_017633.3(TENT5A):c.552+8C>G	TENT5A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2956175	NM_017633.3(TENT5A):c.505T>C (p.Leu169=)	TENT5A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2913828	NM_017633.3(TENT5A):c.1164G>A (p.Val388=)	TENT5A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2907659	NM_017633.3(TENT5A):c.553-4G>A	TENT5A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2897199	NM_017633.3(TENT5A):c.183G>A (p.Ala61=)	TENT5A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2857236	NM_017633.3(TENT5A):c.868G>C (p.Gly290Arg)	TENT5A (G290R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2834243	NM_017633.3(TENT5A):c.553-21_553-17del	TENT5A	Deletion (intron variant)	not provided	GLikely benign
Select item 2802771	NM_017633.3(TENT5A):c.464A>G (p.Gln155Arg)	TENT5A (Q155R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2802467	NM_017633.3(TENT5A):c.348C>T (p.Arg116=)	TENT5A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2744772	NM_017633.3(TENT5A):c.834G>A (p.Lys278=)	TENT5A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2722118	NM_017633.3(TENT5A):c.468T>C (p.Thr156=)	TENT5A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2720337	NM_017633.3(TENT5A):c.357C>T (p.Arg119=)	TENT5A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2717330	NM_017633.3(TENT5A):c.228C>T (p.Gly76=)	TENT5A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2706692	NM_017633.3(TENT5A):c.1311T>G (p.Thr437=)	TENT5A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2622873	NM_017633.3(TENT5A):c.1003A>C (p.Lys335Gln)	TENT5A (K335Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2618254	NM_017633.3(TENT5A):c.1078G>A (p.Gly360Arg)	TENT5A (G360R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2540750	NM_017633.3(TENT5A):c.127G>C (p.Gly43Arg)	TENT5A (G43R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2530251	NM_017633.3(TENT5A):c.511G>C (p.Glu171Gln)	TENT5A (E171Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2426329	NC_000006.11:g.(?_82459412)_(82461858_?)dup	TENT5A	Duplication	not provided	GUncertain significance
Select item 2412817	NM_017633.3(TENT5A):c.204G>T (p.Trp68Cys)	TENT5A (W68C)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta, type 18	GUncertain significance
Select item 2186317	NM_017633.3(TENT5A):c.495G>C (p.Leu165=)	TENT5A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2181538	NM_017633.3(TENT5A):c.312G>T (p.Val104=)	TENT5A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2176997	NM_017633.3(TENT5A):c.32C>G (p.Ser11Cys)	TENT5A (S11C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2174054	NM_017633.3(TENT5A):c.599G>A (p.Arg200Gln)	TENT5A (R200Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2172087	NM_017633.3(TENT5A):c.327C>T (p.Ala109=)	TENT5A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2156578	NM_017633.3(TENT5A):c.72CGGCGACTTCGGCGG[9] (p.Gly45_Gly46insAspPheGlyGlyGlyAspPheGlyGlyGlyAspPheGlyGlyGlyAspPheGlyGlyGlyAspPheGlyGlyGly)	TENT5A	Microsatellite (inframe_insertion)	not provided	GUncertain significance
Select item 2128987	NM_017633.3(TENT5A):c.368C>T (p.Ser123Leu)	TENT5A (S123L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2128234	NM_017633.3(TENT5A):c.1160G>A (p.Arg387Gln)	TENT5A (R387Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2123609	NM_017633.3(TENT5A):c.760A>C (p.Thr254Pro)	TENT5A (T254P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2097516	NM_017633.3(TENT5A):c.40G>A (p.Glu14Lys)	TENT5A (E14K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2092690	NM_017633.3(TENT5A):c.131_132insCGGCGACTTAGGCGG (p.Gly45_Gly46insAspLeuGlyGlyGly)	TENT5A	Insertion (inframe_insertion)	not provided	GUncertain significance
Select item 2090791	NM_017633.3(TENT5A):c.405G>A (p.Leu135=)	TENT5A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2075570	NM_017633.3(TENT5A):c.553-18T>C	TENT5A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2074561	NM_017633.3(TENT5A):c.131_132insCGGCGACTTCCGCGG (p.Gly45_Gly46insAspPheArgGlyGly)	TENT5A	Insertion (inframe_insertion)	not provided	GUncertain significance
Select item 2070986	NM_017633.3(TENT5A):c.527AGA[1] (p.Lys177del)	TENT5A (K177del)	Microsatellite (inframe_deletion)	not provided	GLikely benign
Select item 2065852	NM_017633.3(TENT5A):c.1049G>A (p.Arg350His)	TENT5A (R350H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2059915	NM_017633.3(TENT5A):c.48C>T (p.Ala16=)	TENT5A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2056494	NM_017633.3(TENT5A):c.255C>T (p.His85=)	TENT5A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2046811	NM_017633.3(TENT5A):c.1128G>A (p.Gln376=)	TENT5A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2043939	NM_017633.3(TENT5A):c.131_132insCGGCGACTTCGGTGG (p.Gly45_Gly46insAspPheGlyGlyGly)	TENT5A	Insertion (inframe_insertion)	not provided	GLikely benign
Select item 2040645	NM_017633.3(TENT5A):c.394G>C (p.Asp132His)	TENT5A (D132H)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2038952	NM_017633.3(TENT5A):c.182C>G (p.Ala61Gly)	TENT5A (A61G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2022600	NM_017633.3(TENT5A):c.976T>C (p.Phe326Leu)	TENT5A (F326L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2020525	NM_017633.3(TENT5A):c.504del (p.Leu169fs)	TENT5A (L169fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 2018714	NM_017633.3(TENT5A):c.131_132insCGGCGACTTCGGCGA (p.Gly45_Gly46insAspPheGlyAspGly)	TENT5A	Insertion (inframe_insertion)	not provided	GUncertain significance
Select item 2015129	NM_017633.3(TENT5A):c.1315C>T (p.Leu439=)	TENT5A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2003682	NM_017633.3(TENT5A):c.986T>C (p.Ile329Thr)	TENT5A (I329T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1993750	NM_017633.3(TENT5A):c.813C>A (p.Ala271=)	TENT5A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1968869	NM_017633.3(TENT5A):c.1147A>T (p.Met383Leu)	TENT5A (M383L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1966223	NM_017633.3(TENT5A):c.80_81insTGGCGGCGGCGACTTCGGCGGCGGCGACTT (p.Gly45_Gly46insAspPheGlyGlyGlyAspPheGlyGlyGly)	TENT5A	Insertion (inframe_insertion)	not provided	GUncertain significance
Select item 1965018	NM_017633.3(TENT5A):c.264C>T (p.Gly88=)	TENT5A	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 1935972	NM_017633.3(TENT5A):c.1044A>G (p.Glu348=)	TENT5A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1933425	NM_017633.3(TENT5A):c.318G>A (p.Arg106=)	TENT5A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1920234	NM_017633.3(TENT5A):c.127_128insCCGGCGGCGACTTCG (p.Phe42_Gly43insAlaGlyGlyAspPhe)	TENT5A	Insertion (inframe_insertion)	not provided	GUncertain significance
Select item 1919644	NM_017633.3(TENT5A):c.408C>T (p.Gly136=)	TENT5A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1905224	NM_017633.3(TENT5A):c.998A>G (p.Gln333Arg)	TENT5A (Q333R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1902634	NM_017633.3(TENT5A):c.1287G>A (p.Thr429=)	TENT5A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1901845	NM_017633.3(TENT5A):c.214C>A (p.Gln72Lys)	TENT5A (Q72K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1808487	GRCh37/hg19 6q14.1-14.2(chr6:81087736-84200632)x3	DOP1A, IBTK +6 more	Copy number gain	not provided	GUncertain significance
Select item 1711170	GRCh37/hg19 6q14.1-16.1(chr6:78911022-98909173)x1	AKIRIN2, ANKRD6 +65 more	Copy number loss	See cases	GUncertain significance
Select item 1683688	NM_017633.3(TENT5A):c.749dup (p.Met251fs)	TENT5A (M251fs)	Duplication (frameshift variant)	Osteogenesis imperfecta, type 18	GUncertain significance
Select item 1680621	NM_017633.3(TENT5A):c.68T>G (p.Leu23Arg)	TENT5A (L23R)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1680620	NM_017633.3(TENT5A):c.74_75insTGACTTCGGCGGCGG (p.26DFGGG[5])	TENT5A	Microsatellite (inframe_insertion)	not provided	GLikely benign
Select item 1680619	NM_017633.3(TENT5A):c.80_81insTGGCGGCGGCGACTT (p.26DFGGG[5])	TENT5A	Insertion (inframe_insertion)	not provided	GLikely benign
Select item 1680618	NM_017633.3(TENT5A):c.87_88insCGCGACTTCGGCGGC (p.Gly29_Gly30insArgAspPheGlyGly)	TENT5A	Microsatellite (inframe_insertion)	not provided	GUncertain significance
Select item 1680617	NM_017633.3(TENT5A):c.114_115insAGCGGCGACTTCGGC (p.Gly38_Gly39insSerGlyAspPheGly)	TENT5A	Insertion (inframe_insertion)	not provided	GUncertain significance
Select item 1680616	NM_017633.3(TENT5A):c.132T>C (p.Gly44=)	TENT5A	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1680615	NM_017633.3(TENT5A):c.72CGGCGACTTCGGCGG[8] (p.26DFGGG[8])	TENT5A	Microsatellite (inframe_insertion)	not provided	GUncertain significance
Select item 1680614	NM_017633.3(TENT5A):c.131_132insCGGCGACTTCGGCGGCGGCGACTTCGGTGG (p.26DFGGG[6])	TENT5A	Insertion (inframe_insertion)	not provided	GUncertain significance
Select item 1680613	NM_017633.3(TENT5A):c.137G>A (p.Gly46Asp)	TENT5A (G46D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1680612	NM_017633.3(TENT5A):c.136_137insACTTCGGCGGCGGCGACTTCGGCGGTGGCA (p.Gly46delinsAspPheGlyGlyGlyAspPheGlyGlyGlySer)	TENT5A	Insertion (inframe_indel)	not provided	GUncertain significance
Select item 1680611	NM_017633.3(TENT5A):c.136_137insACTTCGGCGGTGGCA (p.Gly46delinsAspPheGlyGlyGlySer)	TENT5A	Insertion (inframe_indel)	not provided	GUncertain significance
Select item 1680610	NM_017633.3(TENT5A):c.136_137insACTTCGGCGGAGGCG (p.26DFGGG[5])	TENT5A	Insertion (inframe_insertion)	not provided	GUncertain significance
Select item 1680609	NM_017633.3(TENT5A):c.136_137insACTTCGGCGGCGGCGACTTCGGCGGCGGCG (p.26DFGGG[6])	TENT5A	Insertion (inframe_insertion)	not provided	GUncertain significance
Select item 1680608	NM_017633.3(TENT5A):c.136_137insACTTCGGCGGCGGCG (p.26DFGGG[5])	TENT5A	Microsatellite (inframe_insertion)	not provided	GLikely benign
Select item 1680607	NM_017633.3(TENT5A):c.139_141del (p.Ser47del)	TENT5A (S47del)	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 1680606	NM_017633.3(TENT5A):c.143T>G (p.Phe48Cys)	TENT5A (F48C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1680605	NM_017633.3(TENT5A):c.147T>C (p.Gly49=)	TENT5A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1680604	NM_017633.3(TENT5A):c.168C>T (p.Cys56=)	TENT5A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1680603	NM_017633.3(TENT5A):c.198G>A (p.Leu66=)	TENT5A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1680602	NM_017633.3(TENT5A):c.225C>T (p.Asp75=)	TENT5A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1680601	NM_017633.3(TENT5A):c.227G>A (p.Gly76Asp)	TENT5A (G76D)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1680600	NM_017633.3(TENT5A):c.228C>G (p.Gly76=)	TENT5A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1680599	NM_017633.3(TENT5A):c.282G>A (p.Glu94=)	TENT5A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1680598	NM_017633.3(TENT5A):c.283C>T (p.Leu95=)	TENT5A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1680597	NM_017633.3(TENT5A):c.316C>A (p.Arg106=)	TENT5A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1680596	NM_017633.3(TENT5A):c.321C>T (p.Arg107=)	TENT5A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1680595	NM_017633.3(TENT5A):c.334C>T (p.Arg112Cys)	TENT5A (R112C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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