ClinVar for Gene (Select 3614) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3361856	NM_000883.4(IMPDH1):c.296C>G (p.Pro99Arg)	IMPDH1 (P14R +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3285975	NM_000883.4(IMPDH1):c.718G>A (p.Val240Met)	IMPDH1 (V130M +7 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3252792	NM_000883.4(IMPDH1):c.133T>A (p.Tyr45Asn)	IMPDH1, LOC129999258 (Y45N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3245857	NC_000007.13:g.(?_128033061)_(128049955_?)dup	IMPDH1	Duplication	not provided	GUncertain significance
Select item 3245856	NC_000007.13:g.(?_128045801)_(128049955_?)del	IMPDH1	Deletion	not provided	GPathogenic
Select item 3236199	NM_000883.4(IMPDH1):c.590_591inv (p.Gln197Pro)	IMPDH1 (Q107P +7 more)	Inversion (missense variant)	Retinitis pigmentosa 10	GLikely pathogenic
Select item 3109566	NM_000883.4(IMPDH1):c.1676G>A (p.Arg559His)	IMPDH1 (R449H +7 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3109565	NM_000883.4(IMPDH1):c.1009A>T (p.Thr337Ser)	IMPDH1 (T227S +7 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3062992	GRCh37/hg19 7q31.31-33(chr7:120582003-137699953)x1	AASS, AGBL3 +100 more	Copy number loss	not specified	GPathogenic
Select item 3062974	GRCh37/hg19 7q32.1(chr7:127962834-128281256)x3	HILPDA, IMPDH1 +3 more	Copy number gain	not specified	GUncertain significance
Select item 3027900	NM_000883.4(IMPDH1):c.192del (p.Glu64fs)	IMPDH1 (E54fs +1 more)	Deletion (frameshift variant +1 more)	Retinal dystrophy	GUncertain significance
Select item 3027899	NM_000883.4(IMPDH1):c.297C>G (p.Pro99=)	IMPDH1	Single nucleotide variant (synonymous variant +1 more)	Retinal dystrophy	GUncertain significance
Select item 3027898	NM_000883.4(IMPDH1):c.659T>A (p.Met220Lys)	IMPDH1 (M110K +7 more)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 3027897	NM_000883.4(IMPDH1):c.809T>G (p.Leu270Arg)	IMPDH1 (L160R +7 more)	Single nucleotide variant (missense variant)	Retinal dystrophy	GLikely pathogenic
Select item 3027896	NM_000883.4(IMPDH1):c.810G>T (p.Leu270=)	IMPDH1	Single nucleotide variant (synonymous variant)	Retinal dystrophy	GUncertain significance
Select item 3027895	NM_000883.4(IMPDH1):c.826G>T (p.Gly276Cys)	IMPDH1 (G166C +7 more)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 3027894	NM_000883.4(IMPDH1):c.848A>G (p.Asn283Ser)	IMPDH1 (N173S +7 more)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 3027892	NM_000883.4(IMPDH1):c.868A>G (p.Lys290Glu)	IMPDH1 (K180E +7 more)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 3027891	NM_000883.4(IMPDH1):c.870G>A (p.Lys290=)	IMPDH1	Single nucleotide variant (synonymous variant)	Retinal dystrophy	GUncertain significance
Select item 3027890	NM_000883.4(IMPDH1):c.925C>G (p.Arg309Gly)	IMPDH1 (R199G +7 more)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 3027889	NM_000883.4(IMPDH1):c.1048C>A (p.Gln350Lys)	IMPDH1 (Q240K +7 more)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 3027888	NM_000883.4(IMPDH1):c.1175C>T (p.Ala392Val)	IMPDH1 (A282V +7 more)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 3027887	NM_000883.4(IMPDH1):c.1242C>T (p.Ser414=)	IMPDH1	Single nucleotide variant (synonymous variant)	Retinal dystrophy	GBenign
Select item 3027886	NM_000883.4(IMPDH1):c.1296_1297del (p.Tyr433fs)	IMPDH1 (Y323fs +7 more)	Microsatellite (frameshift variant)	Retinal dystrophy	GLikely pathogenic
Select item 3027885	NM_000883.4(IMPDH1):c.1299C>A (p.Tyr433Ter)	IMPDH1 (Y323* +7 more)	Single nucleotide variant (nonsense)	Retinal dystrophy	GLikely pathogenic
Select item 3027884	NM_000883.4(IMPDH1):c.1435A>G (p.Thr479Ala)	IMPDH1 (T369A +7 more)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 3027883	NM_000883.4(IMPDH1):c.1474C>T (p.Arg492Trp)	IMPDH1 (R382W +7 more)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 3027882	NM_000883.4(IMPDH1):c.1650A>G (p.Gln550=)	IMPDH1	Single nucleotide variant (synonymous variant)	Retinal dystrophy	GBenign
Select item 3027881	NM_000883.4(IMPDH1):c.1779-1G>T	IMPDH1	Single nucleotide variant (splice acceptor variant)	Retinal dystrophy	GUncertain significance
Select item 3017092	NM_000883.4(IMPDH1):c.1572C>T (p.Ile524=)	IMPDH1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3013800	NM_000883.4(IMPDH1):c.1166-14A>G	IMPDH1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3011296	NM_000883.4(IMPDH1):c.147C>T (p.Ser49=)	IMPDH1	Single nucleotide variant (synonymous variant +1 more)	not provided	GUncertain significance
Select item 3005843	NM_000883.4(IMPDH1):c.395A>G (p.Asp132Gly)	IMPDH1 (D122G +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3004467	NM_000883.4(IMPDH1):c.1677C>A (p.Arg559=)	IMPDH1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3004430	NM_000883.4(IMPDH1):c.736C>T (p.Arg246Ter)	IMPDH1 (R177* +7 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 3004363	NM_000883.4(IMPDH1):c.509T>C (p.Met170Thr)	IMPDH1 (M134T +5 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2997594	NM_000883.4(IMPDH1):c.1468G>A (p.Gly490Arg)	IMPDH1 (G400R +7 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2974774	NM_000883.4(IMPDH1):c.264C>T (p.Asp88=)	IMPDH1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2966200	NM_000883.4(IMPDH1):c.52G>T (p.Val18Phe)	IMPDH1, LOC129999258 (V18F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2960805	NM_000883.4(IMPDH1):c.353+16C>T	IMPDH1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2920625	NM_000883.4(IMPDH1):c.547G>C (p.Glu183Gln)	IMPDH1 (E183Q +5 more)	Single nucleotide variant (missense variant +1 more)	Retinitis pigmentosa 10	GUncertain significance
Select item 2920624	NM_000883.4(IMPDH1):c.256A>G (p.Met86Val)	IMPDH1 (M86V +3 more)	Single nucleotide variant (missense variant +2 more)	Retinitis pigmentosa 10	GLikely pathogenic
Select item 2919064	NM_000883.4(IMPDH1):c.324C>G (p.Leu108=)	IMPDH1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2917944	NM_000883.4(IMPDH1):c.1572C>G (p.Ile524Met)	IMPDH1 (I434M +7 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2911770	NM_000883.4(IMPDH1):c.787-3C>G	IMPDH1	Single nucleotide variant (intron variant)	not provided	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 2900294	NM_000883.4(IMPDH1):c.66_72del (p.Ala23fs)	IMPDH1, LOC129999258 (A23fs)	Microsatellite (frameshift variant)	not provided	GPathogenic
Select item 2895969	NM_000883.4(IMPDH1):c.146+3G>A	IMPDH1, LOC129999258	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2894247	NM_000883.4(IMPDH1):c.704T>C (p.Met235Thr)	IMPDH1 (M150T +7 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2887370	NM_000883.4(IMPDH1):c.706G>A (p.Gly236Ser)	IMPDH1 (G236S +7 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2883965	NM_000883.4(IMPDH1):c.1127A>G (p.Lys376Arg)	IMPDH1 (K376R +7 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2881373	NM_000883.4(IMPDH1):c.1348GGC[1] (p.Gly451del)	IMPDH1 (G382del +7 more)	Microsatellite (inframe_deletion)	not provided	GUncertain significance
Select item 2880610	NM_000883.4(IMPDH1):c.1222G>C (p.Val408Leu)	IMPDH1 (V323L +7 more)	Single nucleotide variant (missense variant)	not provided	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 2871593	NM_000883.4(IMPDH1):c.1767T>C (p.His589=)	IMPDH1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2870149	NM_000883.4(IMPDH1):c.379A>G (p.Ile127Val)	IMPDH1 (I42V +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2864555	NM_000883.4(IMPDH1):c.1128A>G (p.Lys376=)	IMPDH1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2858807	NM_000883.4(IMPDH1):c.1166-9C>T	IMPDH1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2849769	NM_000883.4(IMPDH1):c.987_988delinsCG (p.Leu330Val)	IMPDH1 (L245V +7 more)	Indel (missense variant)	not provided	GUncertain significance
Select item 2848195	NM_000883.4(IMPDH1):c.72_73insAACCCGG (p.Gln25fs)	IMPDH1, LOC129999258 (Q25fs)	Insertion (frameshift variant)	not provided	GPathogenic
Select item 2847295	NM_000883.4(IMPDH1):c.747C>T (p.Asp249=)	IMPDH1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2845814	NM_000883.4(IMPDH1):c.29T>G (p.Leu10Arg)	IMPDH1, LOC129999258 (L10R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2844819	NM_000883.4(IMPDH1):c.1262-10C>T	IMPDH1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2833322	NM_000883.4(IMPDH1):c.1581T>C (p.Gly527=)	IMPDH1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2827024	NM_000883.4(IMPDH1):c.561C>G (p.Asn187Lys)	IMPDH1 (N154K +5 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2824540	NM_000883.4(IMPDH1):c.1270T>A (p.Cys424Ser)	IMPDH1 (C339S +7 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2824389	NM_000883.4(IMPDH1):c.511G>A (p.Gly171Arg)	IMPDH1 (G102R +5 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2817794	NM_000883.4(IMPDH1):c.382G>T (p.Asp128Tyr)	IMPDH1 (D95Y +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2811420	NM_000883.4(IMPDH1):c.1261+20C>G	IMPDH1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2810617	NM_000883.4(IMPDH1):c.859C>T (p.Gln287Ter)	IMPDH1 (Q287* +7 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2796009	NM_000883.4(IMPDH1):c.465G>A (p.Met155Ile)	IMPDH1 (M145I +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2779600	NM_000883.4(IMPDH1):c.1166-18C>T	IMPDH1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2769544	NM_000883.4(IMPDH1):c.1262-16C>T	IMPDH1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2765721	NM_000883.4(IMPDH1):c.1489C>G (p.Arg497Gly)	IMPDH1 (R387G +7 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2761371	NM_000883.4(IMPDH1):c.1215G>A (p.Gly405=)	IMPDH1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2756638	NM_000883.4(IMPDH1):c.242T>C (p.Leu81Pro)	IMPDH1 (L71P +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2754642	NM_000883.4(IMPDH1):c.875-12A>G	IMPDH1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2741337	NM_000883.4(IMPDH1):c.620G>T (p.Ser207Ile)	IMPDH1 (S171I +7 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2739640	NM_000883.4(IMPDH1):c.144G>A (p.Glu48=)	IMPDH1, LOC129999258	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2735208	NM_000883.4(IMPDH1):c.985C>T (p.Leu329=)	IMPDH1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2735088	NM_000883.4(IMPDH1):c.935T>C (p.Leu312Pro)	IMPDH1 (L276P +7 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2732086	NM_000883.4(IMPDH1):c.1277G>A (p.Arg426Gln)	IMPDH1 (R316Q +7 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2730638	NM_000883.4(IMPDH1):c.1778+17C>T	IMPDH1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2730503	NM_000883.4(IMPDH1):c.1100A>G (p.Tyr367Cys)	IMPDH1 (Y257C +7 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2730497	NM_000883.4(IMPDH1):c.354-10G>C	IMPDH1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2729810	NM_000883.4(IMPDH1):c.1075-15del	IMPDH1	Deletion (intron variant)	not provided	GLikely benign
Select item 2729476	NM_000883.4(IMPDH1):c.453C>A (p.Ile151=)	IMPDH1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2720512	NM_000883.4(IMPDH1):c.354-18_354-15del	IMPDH1	Deletion (intron variant)	not provided	GLikely benign
Select item 2719585	NM_000883.4(IMPDH1):c.505-13C>G	IMPDH1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2711838	NM_000883.4(IMPDH1):c.1166-4C>A	IMPDH1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2709424	NM_000883.4(IMPDH1):c.420G>C (p.Leu140=)	IMPDH1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2706751	NM_000883.4(IMPDH1):c.328G>T (p.Ala110Ser)	IMPDH1 (A25S +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2701712	NM_000883.4(IMPDH1):c.504+15T>C	IMPDH1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2700526	NM_000883.4(IMPDH1):c.1347T>C (p.Asp449=)	IMPDH1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2700432	NM_000883.4(IMPDH1):c.260C>T (p.Ala87Val)	IMPDH1 (A2V +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2685269	GRCh37/hg19 7q31.33-32.2(chr7:127076892-129405807)x1	AHCYL2, ARF5 +26 more	Copy number loss	not provided	GPathogenic
Select item 2628051	NM_000883.4(IMPDH1):c.1417T>C (p.Ser473Pro)	IMPDH1 (S363P +7 more)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 10	GLikely pathogenic
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

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