3614[geneid] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 1 to 100 of 627

<< First< Prev

Page of 7

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146075	GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1	CCDC146, CCDC201 +4735 more	Copy number loss	See cases	GPathogenic
Select item 147547	GRCh38/hg38 7q21.3-36.3(chr7:97419852-158923762)x3	LOC129998995, LOC129998996 +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 149172	GRCh38/hg38 7q31.2-33(chr7:117326805-134790689)x1	AASS, AHCYL2 +492 more	Copy number loss	See cases	GPathogenic
Select item 149905	GRCh38/hg38 7q31.32-36.3(chr7:121863759-159335865)x3	CADPS2, CALD1 +1380 more	Copy number gain	See cases	GPathogenic
Select item 154454	GRCh38/hg38 7q31.32-32.1(chr7:122018122-128907727)x1	AASS, ARF5 +163 more	Copy number loss	See cases	GPathogenic
Select item 154485	GRCh38/hg38 7q31.33-33(chr7:124170657-134163594)x1	LOC129999315, LOC129999316 +342 more	Copy number loss	See cases	GPathogenic
Select item 60295	GRCh38/hg38 7q31.33-32.3(chr7:126859732-132750936)x1	LOC129999254, LOC129999255 +284 more	Copy number loss	See cases	GPathogenic
Select item 153888	GRCh38/hg38 7q32.1(chr7:127817826-129237503)x3	AHCYL2, ATP6V1F +106 more	Copy number gain	See cases	GLikely benign
Select item 369577	NR_148338.1(LOC107986845):n.884G>A	IMPDH1, LOC107986845	Single nucleotide variant (non-coding transcript variant)	Retinitis Pigmentosa, Dominant +1 more	GLikely benign
Select item 358857	NM_000883.4(IMPDH1):c.*722C>T	IMPDH1, LOC107986845	Single nucleotide variant (non-coding transcript variant +1 more)	Leber congenital amaurosis 11 +1 more	GUncertain significance
Select item 911853	NM_000883.4(IMPDH1):c.*721G>A	IMPDH1, LOC107986845	Single nucleotide variant (non-coding transcript variant +1 more)	Leber congenital amaurosis 11 +1 more	GUncertain significance
Select item 908908	NM_000883.4(IMPDH1):c.*694C>A	IMPDH1, LOC107986845	Single nucleotide variant (non-coding transcript variant +1 more)	Leber congenital amaurosis 11 +1 more	GUncertain significance
Select item 908909	NM_000883.4(IMPDH1):c.*642G>A	IMPDH1	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa +1 more	GUncertain significance
Select item 358858	NM_000883.4(IMPDH1):c.*634C>T	IMPDH1	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa +1 more	GBenign
Select item 358859	NM_000883.4(IMPDH1):c.*631C>T	IMPDH1	Single nucleotide variant (3 prime UTR variant)	Leber congenital amaurosis 11 +1 more	GUncertain significance
Select item 909777	NM_000883.4(IMPDH1):c.*613T>C	IMPDH1	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa +1 more	GUncertain significance
Select item 358860	NM_000883.4(IMPDH1):c.*597G>A	IMPDH1	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa +1 more	GBenign
Select item 909778	NM_000883.4(IMPDH1):c.*544G>A	IMPDH1	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa +1 more	GLikely benign
Select item 909779	NM_000883.4(IMPDH1):c.*410G>A	IMPDH1	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa +1 more	GUncertain significance
Select item 358862	NM_000883.4(IMPDH1):c.*321G>A	IMPDH1	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa +1 more	GUncertain significance
Select item 358861	NM_000883.4(IMPDH1):c.*321G>T	IMPDH1	Single nucleotide variant (3 prime UTR variant)	Leber congenital amaurosis 11 +1 more	GUncertain significance
Select item 910679	NM_000883.4(IMPDH1):c.*276C>T	IMPDH1	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa +1 more	GBenign/Likely benign
Select item 358863	NM_000883.4(IMPDH1):c.*259G>A	IMPDH1	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa +1 more	GUncertain significance
Select item 358864	NM_000883.4(IMPDH1):c.*258C>T	IMPDH1	Single nucleotide variant (3 prime UTR variant)	Leber congenital amaurosis 11 +1 more	GUncertain significance
Select item 358865	NM_000883.4(IMPDH1):c.*256T>C	IMPDH1	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa +1 more	GUncertain significance
Select item 358866	NM_000883.4(IMPDH1):c.*231C>G	IMPDH1	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa +1 more	GUncertain significance
Select item 358867	NM_000883.4(IMPDH1):c.*228G>A	IMPDH1	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa +1 more	GBenign/Likely benign
Select item 908977	NM_000883.4(IMPDH1):c.*223C>A	IMPDH1	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa +1 more	GUncertain significance
Select item 908976	NM_000883.4(IMPDH1):c.*223C>T	IMPDH1	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa +1 more	GUncertain significance
Select item 358868	NM_000883.4(IMPDH1):c.*223C>G	IMPDH1	Single nucleotide variant (3 prime UTR variant)	Leber congenital amaurosis 11 +1 more	GConflicting classifications of pathogenicity
Select item 358869	NM_000883.4(IMPDH1):c.*202C>T	IMPDH1	Single nucleotide variant (3 prime UTR variant)	Leber congenital amaurosis 11 +1 more	GUncertain significance
Select item 909847	NM_000883.4(IMPDH1):c.*196C>T	IMPDH1	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa +1 more	GConflicting classifications of pathogenicity
Select item 909848	NM_000883.4(IMPDH1):c.*168G>A	IMPDH1	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa +1 more	GUncertain significance
Select item 909849	NM_000883.4(IMPDH1):c.*137G>C	IMPDH1	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa +1 more	GUncertain significance
Select item 909850	NM_000883.4(IMPDH1):c.*130A>G	IMPDH1	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa +1 more	GUncertain significance
Select item 358870	NM_000883.4(IMPDH1):c.*105T>A	IMPDH1	Single nucleotide variant (3 prime UTR variant)	Leber congenital amaurosis 11 +1 more	GUncertain significance
Select item 910744	NM_000883.4(IMPDH1):c.*102G>T	IMPDH1	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa +1 more	GUncertain significance
Select item 1040093	NM_000883.4(IMPDH1):c.1800A>G (p.Ter600Trp)	IMPDH1	Single nucleotide variant (stop lost)	Leber congenital amaurosis 11 +2 more	GUncertain significance
Select item 1485948	NM_000883.4(IMPDH1):c.1796A>C (p.Tyr599Ser)	IMPDH1 (Y514S +7 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2515138	NM_000883.4(IMPDH1):c.1790G>A (p.Arg597Gln)	IMPDH1 (R561Q +7 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 194714	NM_000883.4(IMPDH1):c.1789C>T (p.Arg597Trp)	IMPDH1 (R597W +7 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2604777	NM_000883.4(IMPDH1):c.1783G>A (p.Glu595Lys)	IMPDH1 (E485K +7 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2862860	NM_000883.4(IMPDH1):c.1782C>A (p.Tyr594Ter)	IMPDH1 (Y509* +7 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 1160860	NM_000883.4(IMPDH1):c.1782C>T (p.Tyr594=)	IMPDH1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 3027881	NM_000883.4(IMPDH1):c.1779-1G>T	IMPDH1	Single nucleotide variant (splice acceptor variant)	Retinal dystrophy	GUncertain significance
Select item 734413	NM_000883.4(IMPDH1):c.1779-3C>T	IMPDH1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1568391	NM_000883.4(IMPDH1):c.1779-10G>C	IMPDH1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2116876	NM_000883.4(IMPDH1):c.1779-17T>G	IMPDH1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2730638	NM_000883.4(IMPDH1):c.1778+17C>T	IMPDH1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1618687	NM_000883.4(IMPDH1):c.1778+12_1778+14delinsAAA	IMPDH1	Indel (intron variant)	not provided	GLikely benign
Select item 866899	NM_000883.4(IMPDH1):c.1778+5G>A	IMPDH1	Single nucleotide variant (intron variant)	Retinal dystrophy +1 more	GUncertain significance
Select item 2878000	NM_000883.4(IMPDH1):c.1778+3A>G	IMPDH1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 286371	NM_000883.4(IMPDH1):c.1778+1G>A	IMPDH1	Single nucleotide variant (splice donor variant)	not provided	GUncertain significance
Select item 1431483	NM_000883.4(IMPDH1):c.1778C>T (p.Ser593Phe)	IMPDH1 (S483F +7 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1966998	NM_000883.4(IMPDH1):c.1770C>T (p.Gly590=)	IMPDH1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2871593	NM_000883.4(IMPDH1):c.1767T>C (p.His589=)	IMPDH1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 857670	NM_000883.4(IMPDH1):c.1766A>G (p.His589Arg)	IMPDH1 (H504R +7 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1647651	NM_000883.4(IMPDH1):c.1746C>T (p.Ala582=)	IMPDH1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1626338	NM_000883.4(IMPDH1):c.1743G>A (p.Ser581=)	IMPDH1	Single nucleotide variant (synonymous variant)	Retinal dystrophy +1 more	GLikely benign
Select item 1009164	NM_000883.4(IMPDH1):c.1742C>T (p.Ser581Leu)	IMPDH1 (S471L +7 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1119379	NM_000883.4(IMPDH1):c.1737C>T (p.Thr579=)	IMPDH1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 958123	NM_000883.4(IMPDH1):c.1732C>T (p.Arg578Trp)	IMPDH1 (R509W +7 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 934790	NM_000883.4(IMPDH1):c.1730A>G (p.Lys577Arg)	IMPDH1 (K467R +7 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1596296	NM_000883.4(IMPDH1):c.1722G>A (p.Lys574=)	IMPDH1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1542079	NM_000883.4(IMPDH1):c.1719C>G (p.Leu573=)	IMPDH1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 194611	NM_000883.4(IMPDH1):c.1714G>C (p.Glu572Gln)	IMPDH1 (E572Q +7 more)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 2108330	NM_000883.4(IMPDH1):c.1711G>A (p.Gly571Arg)	IMPDH1 (G535R +7 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 358871	NM_000883.4(IMPDH1):c.1704G>A (p.Met568Ile)	IMPDH1 (M568I +7 more)	Single nucleotide variant (missense variant)	Retinitis pigmentosa +1 more	GUncertain significance
Select item 2907376	NM_000883.4(IMPDH1):c.1701G>A (p.Met567Ile)	IMPDH1 (M498I +7 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1968878	NM_000883.4(IMPDH1):c.1695-7_1695-4del	IMPDH1	Deletion (intron variant)	not provided	GLikely benign
Select item 2162927	NM_000883.4(IMPDH1):c.1695-5C>T	IMPDH1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2185984	NM_000883.4(IMPDH1):c.1695-7C>G	IMPDH1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 911966	NM_000883.4(IMPDH1):c.1695-11C>T	IMPDH1	Single nucleotide variant (intron variant)	Leber congenital amaurosis 11 +1 more	GUncertain significance
Select item 2108316	NM_000883.4(IMPDH1):c.1695-18C>T	IMPDH1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1645287	NM_000883.4(IMPDH1):c.1695-19C>T	IMPDH1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1560771	NM_000883.4(IMPDH1):c.1694+20del	IMPDH1	Deletion (intron variant)	not provided	GBenign
Select item 1168544	NM_000883.4(IMPDH1):c.1694+16G>A	IMPDH1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1989400	NM_000883.4(IMPDH1):c.1694+9T>C	IMPDH1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2144074	NM_000883.4(IMPDH1):c.1694+7G>A	IMPDH1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 865962	NM_000883.4(IMPDH1):c.1694G>A (p.Arg565Gln)	IMPDH1 (R475Q +7 more)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 1387645	NM_000883.4(IMPDH1):c.1686_1689del (p.Val563fs)	IMPDH1 (V473fs +7 more)	Microsatellite (frameshift variant)	not provided	GPathogenic
Select item 3004467	NM_000883.4(IMPDH1):c.1677C>A (p.Arg559=)	IMPDH1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1413530	NM_000883.4(IMPDH1):c.1675C>T (p.Arg559Cys)	IMPDH1 (R449C +7 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 711446	NM_000883.4(IMPDH1):c.1668C>T (p.Ile556=)	IMPDH1	Single nucleotide variant (synonymous variant)	Retinitis pigmentosa +2 more	GConflicting classifications of pathogenicity
Select item 729916	NM_000883.4(IMPDH1):c.1662G>A (p.Gln554=)	IMPDH1	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 811869	NM_000883.4(IMPDH1):c.1654G>A (p.Gly552Ser)	IMPDH1 (G442S +7 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 358872	NM_000883.4(IMPDH1):c.1653C>T (p.His551=)	IMPDH1	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 3027882	NM_000883.4(IMPDH1):c.1650A>G (p.Gln550=)	IMPDH1	Single nucleotide variant (synonymous variant)	Retinal dystrophy	GBenign
Select item 829898	NM_000883.4(IMPDH1):c.1642G>A (p.Gly548Ser)	IMPDH1 (G438S +7 more)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 10 +1 more	GUncertain significance
Select item 1000376	NM_000883.4(IMPDH1):c.1639G>A (p.Ala547Thr)	IMPDH1 (A437T +7 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1511918	NM_000883.4(IMPDH1):c.1636A>G (p.Ile546Val)	IMPDH1 (I536V +7 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1091606	NM_000883.4(IMPDH1):c.1626G>C (p.Val542=)	IMPDH1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 285033	NM_000883.4(IMPDH1):c.1623C>T (p.Phe541=)	IMPDH1	Single nucleotide variant (synonymous variant)	not provided	GConflicting classifications of pathogenicity
Select item 2724990	NM_000883.4(IMPDH1):c.1618A>G (p.Lys540Glu)	IMPDH1 (K455E +7 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2183770	NM_000883.4(IMPDH1):c.1612A>G (p.Ile538Val)	IMPDH1 (I505V +7 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2037280	NM_000883.4(IMPDH1):c.1605A>G (p.Lys535=)	IMPDH1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1486862	NM_000883.4(IMPDH1):c.1605del (p.Gly536fs)	IMPDH1 (G467fs +7 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1471959	NM_000883.4(IMPDH1):c.1603A>G (p.Lys535Glu)	IMPDH1 (K425E +7 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 636175	NM_000883.4(IMPDH1):c.1598A>G (p.Gln533Arg)	IMPDH1 (Q533R +7 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity

<< First< Prev

Page of 7