135935[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146075	GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1	LOC121740684, LOC121740685 +4735 more	Copy number loss	See cases	GPathogenic
Select item 147547	GRCh38/hg38 7q21.3-36.3(chr7:97419852-158923762)x3	LOC111674474, LOC111674475 +2212 more	Copy number gain	See cases	GPathogenic
Select item 152912	GRCh38/hg38 7q31.2-36.3(chr7:115459015-159325817)x3	LOC129999548, LOC129999549 +1547 more	Copy number gain	See cases	GPathogenic
Select item 149905	GRCh38/hg38 7q31.32-36.3(chr7:121863759-159335865)x3	LOC129999653, LOC129999654 +1380 more	Copy number gain	See cases	GPathogenic
Select item 57215	GRCh38/hg38 7q32.1-36.3(chr7:129310166-159282390)x3	C7orf33, CALD1 +1176 more	Copy number gain	See cases	GPathogenic
Select item 155687	GRCh38/hg38 7q32.3-36.3(chr7:131171478-159327017)x3	LOC129999666, LOC129999667 +1052 more	Copy number gain	See cases	GPathogenic
Select item 154735	GRCh38/hg38 7q32.3-36.3(chr7:131228764-159335866)x3	TMEM140, TMEM176A +1046 more	Copy number gain	See cases	GPathogenic
Select item 155640	GRCh38/hg38 7q32.3-36.3(chr7:132438072-159327017)x3	LOC129999503, LOC129999504 +1025 more	Copy number gain	See cases	GPathogenic
Select item 150858	GRCh38/hg38 7q32.3-36.3(chr7:132444095-159335866)x3	LINC00996, LINC01003 +1025 more	Copy number gain	See cases	GPathogenic
Select item 57401	GRCh38/hg38 7q32.3-36.3(chr7:132850196-159325876)x3	ABCB8, ABCF2 +1019 more	Copy number gain	See cases	GPathogenic
Select item 149061	GRCh38/hg38 7q33-36.3(chr7:134666829-158591882)x1	WDR86, WDR86-AS1 +944 more	Copy number loss	See cases	GPathogenic
Select item 149975	GRCh38/hg38 7q33-36.1(chr7:135017687-148807400)x1	TRBC2, TRBD1 +455 more	Copy number loss	See cases	GPathogenic
Select item 59716	GRCh38/hg38 7q33-36.3(chr7:136309982-159307523)x3	LOC129999526, LOC129999527 +908 more	Copy number gain	See cases	GPathogenic
Select item 2579170	GRCh38/hg38 7q33-36.3(chr7:137463392-159345973)x3	AGAP3, AGK +888 more	Copy number gain	Neurodevelopmental disorder	GPathogenic
Select item 147398	GRCh38/hg38 7q33-36.2(chr7:137751200-154815582)x3	ABCB8, ABCF2 +692 more	Copy number gain	See cases	GPathogenic
Select item 2579171	GRCh38/hg38 7q34-36.3(chr7:138620939-159233475)x3	DYNC2I1, EN2 +847 more	Copy number gain	Neurodevelopmental disorder	GLikely pathogenic
Select item 155657	GRCh38/hg38 7q34-35(chr7:140061285-144622893)x3	TRBC1, TRBC2 +230 more	Copy number gain	See cases	GUncertain significance
Select item 60300	GRCh38/hg38 7q34-36.3(chr7:140754198-159307523)x1	LOC129999649, LOC129999650 +737 more	Copy number loss	See cases	GPathogenic
Select item 144163	GRCh38/hg38 7q34-35(chr7:141126407-145652221)x3	AGK, AGK-DT +192 more	Copy number gain	See cases	GPathogenic
Select item 148181	GRCh38/hg38 7q34-36.3(chr7:141960861-159335866)x1	ABCB8, ABCF2 +707 more	Copy number loss	See cases	GPathogenic
Select item 149558	GRCh38/hg38 7q35-36.1(chr7:143596735-150089125)x4	ACTR3C, ARHGEF35 +172 more	Copy number gain	See cases	GLikely pathogenic
Select item 146871	GRCh38/hg38 7q35(chr7:143735880-144409525)x3	ARHGEF35, ARHGEF35-AS1 +27 more	Copy number gain	See cases	GLikely benign
Select item 60302	GRCh38/hg38 7q35-36.3(chr7:143884559-159282390)x1	LOC129999755, LOC129999756 +573 more	Copy number loss	See cases	GPathogenic
Select item 57118	GRCh38/hg38 7q35-36.1(chr7:143884559-152674271)x1	ABCB8, ABCF2 +358 more	Copy number loss	See cases	GPathogenic
Select item 1290495	NC_000007.14:g.144397037C>T	NOBOX	Single nucleotide variant (genic downstream transcript variant)	not provided	GBenign
Select item 1283697	NC_000007.14:g.144397163A>C	NOBOX	Single nucleotide variant (genic downstream transcript variant)	not provided	GBenign
Select item 1255994	NM_001080413.3(NOBOX):c.2041dup (p.Ala681fs)	NOBOX (A681fs)	Duplication (frameshift variant)	Genetic non-acquired premature ovarian failure	GPathogenic
Select item 359131	NM_001080413.3(NOBOX):c.1991A>G (p.Lys664Arg)	NOBOX (K664R)	Single nucleotide variant (missense variant)	Premature ovarian failure 5 +1 more	GBenign
Select item 911029	NM_001080413.3(NOBOX):c.1980C>G (p.Leu660=)	NOBOX	Single nucleotide variant (synonymous variant)	Premature ovarian failure 5	GUncertain significance
Select item 3200934	NM_001080413.3(NOBOX):c.1961C>T (p.Pro654Leu)	NOBOX (P654L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3200933	NM_001080413.3(NOBOX):c.1948G>A (p.Glu650Lys)	NOBOX (E650K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 359132	NM_001080413.3(NOBOX):c.1938A>G (p.Ser646=)	NOBOX	Single nucleotide variant (synonymous variant)	Premature ovarian failure 5	GUncertain significance
Select item 3200932	NM_001080413.3(NOBOX):c.1925C>T (p.Ser642Leu)	NOBOX (S642L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3200931	NM_001080413.3(NOBOX):c.1907C>A (p.Ala636Asp)	NOBOX (A636D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2658131	NM_001080413.3(NOBOX):c.1901C>T (p.Pro634Leu)	NOBOX (P634L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 359133	NM_001080413.3(NOBOX):c.1900C>A (p.Pro634Thr)	NOBOX (P634T)	Single nucleotide variant (missense variant)	Premature ovarian failure 5	GUncertain significance
Select item 911030	NM_001080413.3(NOBOX):c.1875T>C (p.Phe625=)	NOBOX	Single nucleotide variant (synonymous variant)	Premature ovarian failure 5	GUncertain significance
Select item 359134	NM_001080413.3(NOBOX):c.1856C>T (p.Pro619Leu)	NOBOX (P619L)	Single nucleotide variant (missense variant)	Premature ovarian failure 5	GBenign
Select item 911031	NM_001080413.3(NOBOX):c.1849C>T (p.His617Tyr)	NOBOX (H617Y)	Single nucleotide variant (missense variant)	Premature ovarian failure 5	GUncertain significance
Select item 2486096	NM_001080413.3(NOBOX):c.1847G>A (p.Gly616Glu)	NOBOX (G616E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 912267	NM_001080413.3(NOBOX):c.1830C>G (p.Phe610Leu)	NOBOX (F610L)	Single nucleotide variant (missense variant)	Premature ovarian failure 5	GUncertain significance
Select item 791163	NM_001080413.3(NOBOX):c.1826C>T (p.Pro609Leu)	NOBOX (P609L)	Single nucleotide variant (missense variant)	Premature ovarian failure 5 +2 more	GConflicting classifications of pathogenicity
Select item 2245565	NM_001080413.3(NOBOX):c.1803G>T (p.Leu601Phe)	NOBOX (L601F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 359135	NM_001080413.3(NOBOX):c.1796C>A (p.Pro599His)	NOBOX (P599H)	Single nucleotide variant (missense variant)	Premature ovarian failure 5 +1 more	GBenign
Select item 716086	NM_001080413.3(NOBOX):c.1775-8C>A	NOBOX	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1201840	NM_001080413.3(NOBOX):c.1775-84G>A	NOBOX	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1248530	NM_001080413.3(NOBOX):c.1775-149T>C	NOBOX	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 381954	NM_001080413.3(NOBOX):c.1774+18G>A	NOBOX	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 359136	NM_001080413.3(NOBOX):c.1774+11G>A	NOBOX	Single nucleotide variant (intron variant)	Premature ovarian failure 5	GUncertain significance
Select item 3200929	NM_001080413.3(NOBOX):c.1759C>T (p.Pro587Ser)	NOBOX (P587S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 359137	NM_001080413.3(NOBOX):c.1751T>G (p.Met584Arg)	NOBOX (M584R)	Single nucleotide variant (missense variant)	Premature ovarian failure 5	GUncertain significance
Select item 2337344	NM_001080413.3(NOBOX):c.1715G>A (p.Gly572Asp)	NOBOX (G572D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 359138	NM_001080413.3(NOBOX):c.1709C>T (p.Ser570Leu)	NOBOX (S570L)	Single nucleotide variant (missense variant)	Premature ovarian failure 5	GBenign
Select item 3200928	NM_001080413.3(NOBOX):c.1698C>A (p.Ser566Arg)	NOBOX (S566R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 359139	NM_001080413.3(NOBOX):c.1698C>T (p.Ser566=)	NOBOX	Single nucleotide variant (synonymous variant)	Premature ovarian failure 5	GUncertain significance
Select item 2319609	NM_001080413.3(NOBOX):c.1691G>A (p.Gly564Asp)	NOBOX (G564D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1256031	NM_001080413.3(NOBOX):c.1674_1677del (p.Phe559fs)	NOBOX (F559fs)	Deletion (frameshift variant)	Genetic non-acquired premature ovarian failure	GPathogenic
Select item 723270	NM_001080413.3(NOBOX):c.1659G>A (p.Pro553=)	NOBOX	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2207428	NM_001080413.3(NOBOX):c.1649C>T (p.Thr550Met)	NOBOX (T550M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2265718	NM_001080413.3(NOBOX):c.1592C>T (p.Pro531Leu)	NOBOX (P531L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1049203	NM_001080413.3(NOBOX):c.1563G>C (p.Gln521His)	NOBOX (Q521H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 286525	NM_001080413.3(NOBOX):c.1549T>C (p.Phe517Leu)	NOBOX (F517L)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign
Select item 359140	NM_001080413.3(NOBOX):c.1546C>T (p.Pro516Ser)	NOBOX (P516S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 359141	NM_001080413.3(NOBOX):c.1507C>G (p.Leu503Val)	NOBOX (L503V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2630292	NM_001080413.3(NOBOX):c.1489del (p.Cys497fs)	NOBOX (C497fs)	Deletion (frameshift variant)	NOBOX-related disorder	GLikely pathogenic
Select item 3200925	NM_001080413.3(NOBOX):c.1487C>G (p.Pro496Arg)	NOBOX (P496R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 908266	NM_001080413.3(NOBOX):c.1483C>A (p.Pro495Thr)	NOBOX (P495T)	Single nucleotide variant (missense variant)	Premature ovarian failure 5 +1 more	GConflicting classifications of pathogenicity
Select item 1226872	NM_001080413.3(NOBOX):c.1470-51G>A	NOBOX	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1292737	NM_001080413.3(NOBOX):c.1469+163A>G	NOBOX	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 908267	NM_001080413.3(NOBOX):c.1469+14G>A	NOBOX	Single nucleotide variant (intron variant)	Premature ovarian failure 5	GUncertain significance
Select item 908268	NM_001080413.3(NOBOX):c.1469+13C>T	NOBOX	Single nucleotide variant (intron variant)	Premature ovarian failure 5	GLikely benign
Select item 1030082	NM_001080413.3(NOBOX):c.1469+5G>A	NOBOX	Single nucleotide variant (intron variant)	Premature ovarian failure 5	GUncertain significance
Select item 908269	NM_001080413.3(NOBOX):c.1450T>C (p.Cys484Arg)	NOBOX (C484R)	Single nucleotide variant (missense variant)	Premature ovarian failure 5	GUncertain significance
Select item 2347461	NM_001080413.3(NOBOX):c.1448C>T (p.Pro483Leu)	NOBOX (P483L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 910207	NM_001080413.3(NOBOX):c.1447C>G (p.Pro483Ala)	NOBOX (P483A)	Single nucleotide variant (missense variant)	Premature ovarian failure 5	GUncertain significance
Select item 138535	NM_001080413.3(NOBOX):c.1444G>A (p.Gly482Ser)	NOBOX (G482S)	Single nucleotide variant (missense variant)	Premature ovarian failure 5 +1 more	GBenign
Select item 929756	NM_001080413.3(NOBOX):c.1440G>C (p.Lys480Asn)	NOBOX (K480N)	Single nucleotide variant (missense variant)	Premature ovarian failure	GLikely pathogenic
Select item 2474326	NM_001080413.3(NOBOX):c.1431C>A (p.Ser477Arg)	NOBOX (S477R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 359142	NM_001080413.3(NOBOX):c.1354G>A (p.Asp452Asn)	NOBOX (D452N)	Single nucleotide variant (missense variant)	Premature ovarian failure 5 +1 more	GBenign
Select item 2664232	NM_001080413.3(NOBOX):c.1337C>T (p.Pro446Leu)	NOBOX (P446L)	Single nucleotide variant (missense variant)	Premature ovarian failure 5	GUncertain significance
Select item 3200924	NM_001080413.3(NOBOX):c.1336C>T (p.Pro446Ser)	NOBOX (P446S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 957395	NM_001080413.3(NOBOX):c.1322del (p.Pro441fs)	NOBOX (P441fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 359143	NM_001080413.3(NOBOX):c.1322C>G (p.Pro441Arg)	NOBOX (P441R)	Single nucleotide variant (missense variant)	Premature ovarian failure 5	GUncertain significance
Select item 3200923	NM_001080413.3(NOBOX):c.1318C>T (p.Pro440Ser)	NOBOX (P440S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3200922	NM_001080413.3(NOBOX):c.1307G>A (p.Arg436Lys)	NOBOX (R436K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1256013	NM_001080413.3(NOBOX):c.1298G>T (p.Gly433Val)	NOBOX (G433V)	Single nucleotide variant (missense variant)	Genetic non-acquired premature ovarian failure	GLikely pathogenic
Select item 3200921	NM_001080413.3(NOBOX):c.1271C>G (p.Thr424Ser)	NOBOX (T424S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2614329	NM_001080413.3(NOBOX):c.1250T>A (p.Met417Lys)	NOBOX (M417K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2658132	NM_001080413.3(NOBOX):c.1243C>G (p.Pro415Ala)	NOBOX (P415A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2237283	NM_001080413.3(NOBOX):c.1243C>T (p.Pro415Ser)	NOBOX (P415S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1257081	NM_001080413.3(NOBOX):c.1240+34G>A	NOBOX	Single nucleotide variant (intron variant)	Premature ovarian failure 5 +1 more	GBenign
Select item 3200920	NM_001080413.3(NOBOX):c.1222C>T (p.Pro408Ser)	NOBOX (P408S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1256030	NM_001080413.3(NOBOX):c.1199C>T (p.Pro400Leu)	NOBOX (P400L)	Single nucleotide variant (missense variant)	Genetic non-acquired premature ovarian failure	GLikely pathogenic
Select item 1222892	NM_001080413.3(NOBOX):c.1155-23G>A	NOBOX	Single nucleotide variant (intron variant)	Premature ovarian failure 5 +1 more	GBenign
Select item 359144	NM_001080413.3(NOBOX):c.1154+11T>C	NOBOX	Single nucleotide variant (intron variant)	Premature ovarian failure 5 +1 more	GBenign
Select item 1256025	NM_001080413.3(NOBOX):c.1131del (p.Gly378fs)	NOBOX (G378fs)	Deletion (frameshift variant)	Genetic non-acquired premature ovarian failure	GPathogenic
Select item 1684958	NM_001080413.3(NOBOX):c.1112A>C (p.Lys371Thr)	NOBOX (K371T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 910208	NM_001080413.3(NOBOX):c.1079G>A (p.Arg360Gln)	NOBOX (R360Q)	Single nucleotide variant (missense variant)	Premature ovarian failure 5	GLikely benign
Select item 812129	NM_001080413.3(NOBOX):c.1078C>T (p.Arg360Ter)	NOBOX (R360*)	Single nucleotide variant (nonsense)	Premature ovarian failure 5	GLikely pathogenic
Select item 1308604	NM_001080413.3(NOBOX):c.1066C>T (p.Arg356Trp)	NOBOX (R356W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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