ClinVar for MedGen (Select 326698) - ClinVar

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Items: 82

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 937932	NM_000883.4(IMPDH1):c.968A>G (p.Lys323Arg)	IMPDH1 (K213R +7 more)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 11 +1 more	GPathogenic/Likely pathogenic
Select item 931699	NM_000883.4(IMPDH1):c.968A>C (p.Lys323Thr)	IMPDH1 (K213T +7 more)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 11	GUncertain significance
Select item 931488	NM_000883.4(IMPDH1):c.942G>T (p.Lys314Asn)	IMPDH1 (K224N +7 more)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 11	GUncertain significance
Select item 931163	NM_000883.4(IMPDH1):c.290A>G (p.Tyr97Cys)	IMPDH1 (Y61C +3 more)	Single nucleotide variant (missense variant +1 more)	Leber congenital amaurosis 11	GUncertain significance
Select item 912068	NM_000883.4(IMPDH1):c.255-10C>T	IMPDH1	Single nucleotide variant (5 prime UTR variant +1 more)	Leber congenital amaurosis 11 +2 more	GConflicting classifications of pathogenicity
Select item 912009	NM_000883.4(IMPDH1):c.1075-3C>T	IMPDH1	Single nucleotide variant (intron variant)	Leber congenital amaurosis 11 +1 more	GUncertain significance
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 911853	NM_000883.4(IMPDH1):c.*721G>A	LOC107986845, IMPDH1	Single nucleotide variant (non-coding transcript variant +1 more)	Retinitis pigmentosa +2 more	GUncertain significance
Select item 910851	NM_000883.4(IMPDH1):c.424C>T (p.Arg142Trp)	IMPDH1 (R132W +5 more)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 11 +2 more	GUncertain significance
Select item 910850	NM_000883.4(IMPDH1):c.561C>T (p.Asn187=)	IMPDH1	Single nucleotide variant (synonymous variant +1 more)	Leber congenital amaurosis 11 +2 more	GConflicting classifications of pathogenicity
Select item 910798	NM_000883.4(IMPDH1):c.1226G>A (p.Gly409Asp)	IMPDH1 (G319D +7 more)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 10 +3 more	GConflicting classifications of pathogenicity
Select item 910797	NM_000883.4(IMPDH1):c.1280C>T (p.Pro427Leu)	IMPDH1 (P337L +7 more)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 11 +2 more	GConflicting classifications of pathogenicity
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 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 910017	NM_000883.4(IMPDH1):c.-77G>C	IMPDH1, LOC129999258	Single nucleotide variant (5 prime UTR variant)	Retinitis pigmentosa +1 more	GUncertain significance
Select item 910016	NM_000883.4(IMPDH1):c.-73G>C	IMPDH1, LOC129999258	Single nucleotide variant (5 prime UTR variant)	Retinitis pigmentosa +1 more	GUncertain significance
Select item 909951	NM_000883.4(IMPDH1):c.675T>C (p.Ser225=)	IMPDH1	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 909950	NM_000883.4(IMPDH1):c.694A>G (p.Thr232Ala)	IMPDH1 (T147A +7 more)	Single nucleotide variant (missense 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 909849	NM_000883.4(IMPDH1):c.*137G>C	IMPDH1	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa +2 more	GUncertain significance
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 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 909779	NM_000883.4(IMPDH1):c.*410G>A	IMPDH1	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa +1 more	GUncertain significance
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 909777	NM_000883.4(IMPDH1):c.*613T>C	IMPDH1	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa +1 more	GUncertain significance
Select item 909095	NM_000883.4(IMPDH1):c.795G>A (p.Thr265=)	IMPDH1	Single nucleotide variant (synonymous variant)	Retinitis pigmentosa +1 more	GUncertain significance
Select item 909034	NM_000883.4(IMPDH1):c.1573G>T (p.Ala525Ser)	IMPDH1 (A515S +7 more)	Single nucleotide variant (missense variant)	Retinitis pigmentosa +1 more	GUncertain significance
Select item 909033	NM_000883.4(IMPDH1):c.1589G>A (p.Gly530Asp)	IMPDH1 (G440D +7 more)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 11 +2 more	GUncertain significance
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 908909	NM_000883.4(IMPDH1):c.*642G>A	IMPDH1	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa +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 908061	NM_000883.4(IMPDH1):c.-17T>C	IMPDH1, LOC129999258	Single nucleotide variant (5 prime UTR variant)	Retinitis pigmentosa +1 more	GUncertain significance
Select item 908060	NM_000883.4(IMPDH1):c.-13C>T	IMPDH1, LOC129999258	Single nucleotide variant (5 prime UTR variant)	Retinitis pigmentosa +1 more	GUncertain significance
Select item 908059	NM_000883.4(IMPDH1):c.146+6G>T	IMPDH1, LOC129999258	Single nucleotide variant (intron variant)	Retinitis pigmentosa +1 more	GUncertain significance
Select item 857776	NM_000883.4(IMPDH1):c.443C>T (p.Thr148Met)	IMPDH1 (T115M +5 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 855604	NM_000883.4(IMPDH1):c.841G>C (p.Glu281Gln)	IMPDH1 (E171Q +7 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 813046	NM_000883.4(IMPDH1):c.71G>C (p.Arg24Pro)	IMPDH1, LOC129999258 (R24P)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 774135	NM_000883.4(IMPDH1):c.1074+6G>T	IMPDH1	Single nucleotide variant (intron variant)	Leber congenital amaurosis 11 +2 more	GBenign/Likely benign
Select item 774134	NM_000883.4(IMPDH1):c.1074+7C>T	IMPDH1	Single nucleotide variant (intron variant)	not provided +2 more	GBenign/Likely benign
Select item 772300	NM_000883.4(IMPDH1):c.930C>T (p.Thr310=)	IMPDH1	Single nucleotide variant (synonymous variant)	Retinitis pigmentosa +3 more	GConflicting classifications of pathogenicity
Select item 767199	NM_000883.4(IMPDH1):c.189A>G (p.Ser63=)	IMPDH1	Single nucleotide variant (synonymous variant +1 more)	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)	Leber congenital amaurosis 11 +2 more	GConflicting classifications of pathogenicity
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 707014	NM_000883.4(IMPDH1):c.1142A>G (p.His381Arg)	IMPDH1 (H271R +7 more)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 11 +2 more	GConflicting classifications of pathogenicity
Select item 636175	NM_000883.4(IMPDH1):c.1598A>G (p.Gln533Arg)	IMPDH1 (Q533R +7 more)	Single nucleotide variant (missense variant)	Retinitis pigmentosa +2 more	GConflicting classifications of pathogenicity
Select item 560464	NM_000883.4(IMPDH1):c.1433C>T (p.Thr478Ile)	IMPDH1 (T478I +7 more)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 11 +1 more	GUncertain significance
Select item 450043	NM_000883.4(IMPDH1):c.1030C>T (p.Arg344Cys)	IMPDH1 (R344C +7 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 374177	NM_000883.4(IMPDH1):c.928A>C (p.Thr310Pro)	IMPDH1 (T310P +7 more)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 11 +1 more	GLikely pathogenic
Select item 358882	NM_000883.4(IMPDH1):c.-69T>G	IMPDH1, LOC129999258	Single nucleotide variant (5 prime UTR variant)	not provided +2 more	GBenign
Select item 358881	NM_000883.4(IMPDH1):c.-59G>A	IMPDH1, LOC129999258	Single nucleotide variant (5 prime UTR variant)	Leber congenital amaurosis 11 +1 more	GUncertain significance
Select item 358880	NM_000883.4(IMPDH1):c.146+9C>T	IMPDH1, LOC129999258	Single nucleotide variant (intron variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 358879	NM_000883.4(IMPDH1):c.737G>A (p.Arg246Gln)	IMPDH1 (R246Q +7 more)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 11 +2 more	GUncertain significance
Select item 358878	NM_000883.4(IMPDH1):c.769A>G (p.Thr257Ala)	IMPDH1 (T257A +7 more)	Single nucleotide variant (missense variant)	Retinitis pigmentosa +3 more	GConflicting classifications of pathogenicity
Select item 358877	NM_000883.4(IMPDH1):c.888C>T (p.Ile296=)	IMPDH1	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 358876	NM_000883.4(IMPDH1):c.987G>C (p.Leu329=)	IMPDH1	Single nucleotide variant (synonymous variant)	Retinitis pigmentosa +3 more	GBenign
Select item 358875	NM_000883.4(IMPDH1):c.1338C>T (p.Ile446=)	IMPDH1	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 358874	NM_000883.4(IMPDH1):c.1350C>T (p.Gly450=)	IMPDH1	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 358873	NM_000883.4(IMPDH1):c.1575G>A (p.Ala525=)	IMPDH1	Single nucleotide variant (synonymous variant)	Retinitis pigmentosa +3 more	GBenign
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 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 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 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 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 358867	NM_000883.4(IMPDH1):c.*228G>A	IMPDH1	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa +2 more	GBenign/Likely benign
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 358865	NM_000883.4(IMPDH1):c.*256T>C	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 358863	NM_000883.4(IMPDH1):c.*259G>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 358860	NM_000883.4(IMPDH1):c.*597G>A	IMPDH1	Single nucleotide variant (3 prime UTR variant)	Leber congenital amaurosis 11 +2 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 358858	NM_000883.4(IMPDH1):c.*634C>T	IMPDH1	Single nucleotide variant (3 prime UTR variant)	Leber congenital amaurosis 11 +2 more	GBenign
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 197169	NM_000883.4(IMPDH1):c.336C>T (p.Ala112=)	IMPDH1	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 194611	NM_000883.4(IMPDH1):c.1714G>C (p.Glu572Gln)	IMPDH1 (E572Q +7 more)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 11 +4 more	GUncertain significance
Select item 194186	NM_000883.4(IMPDH1):c.1405+9A>G	IMPDH1	Single nucleotide variant (intron variant)	not provided +3 more	GBenign/Likely benign
Select item 193819	NM_000883.4(IMPDH1):c.1108G>A (p.Ala370Thr)	IMPDH1 (A370T +7 more)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 14838	NM_000883.4(IMPDH1):c.849T>G (p.Asn283Lys)	IMPDH1 (N198K +7 more)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 11	GPathogenic
Select item 14837	NM_000883.4(IMPDH1):c.568C>T (p.Arg190Trp)	IMPDH1 (R105W +5 more)	Single nucleotide variant (missense variant +1 more)	Leber congenital amaurosis 11 +2 more	GConflicting classifications of pathogenicity

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Items: 82