Related gene-specific medical variations for Gene (Select 56606) - ClinVar

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Items: 78

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3065291	NM_020041.3(SLC2A9):c.611_613dup (p.Val204_Thr205insMet)	SLC2A9	Duplication (inframe_insertion)	Hypouricemia, renal, 2	GUncertain significance
Select item 3062797	GRCh37/hg19 4p16.1(chr4:9930962-9956639)x1	SLC2A9	Copy number loss	not specified	GUncertain significance
Select item 3058787	NM_000798.5(DRD5):c.216C>G (p.Arg72=)	DRD5, SLC2A9	Single nucleotide variant (synonymous variant)	DRD5-related condition	GLikely benign
Select item 3043073	NM_000798.5(DRD5):c.186C>A (p.Cys62Ter)	DRD5, SLC2A9 (C62*)	Single nucleotide variant (nonsense)	DRD5-related condition	GLikely benign
Select item 3040751	NM_000798.5(DRD5):c.-5C>G	DRD5, SLC2A9	Single nucleotide variant (5 prime UTR variant)	DRD5-related condition	GLikely benign
Select item 3034554	NM_000798.5(DRD5):c.631G>A (p.Asp211Asn)	DRD5, SLC2A9 (D211N)	Single nucleotide variant (missense variant)	DRD5-related condition	GLikely benign
Select item 3033610	NM_000798.5(DRD5):c.804C>G (p.His268Gln)	DRD5, SLC2A9 (H268Q)	Single nucleotide variant (missense variant)	DRD5-related condition	GBenign
Select item 2800499	NM_020041.3(SLC2A9):c.249+19C>G	LOC129992244, SLC2A9	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2610800	NM_000798.5(DRD5):c.936C>A (p.Phe312Leu)	DRD5, SLC2A9 (F312L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2595293	NM_000798.5(DRD5):c.1405A>G (p.Thr469Ala)	DRD5, SLC2A9 (T469A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2543087	NM_000798.5(DRD5):c.1243C>T (p.Pro415Ser)	DRD5, SLC2A9 (P415S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2529229	NM_000798.5(DRD5):c.968G>T (p.Ser323Ile)	DRD5, SLC2A9 (S323I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2524269	NM_000798.5(DRD5):c.905T>C (p.Met302Thr)	DRD5, SLC2A9 (M302T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2522344	NM_000798.5(DRD5):c.473T>G (p.Leu158Trp)	DRD5, SLC2A9 (L158W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2513538	NM_000798.5(DRD5):c.1060C>G (p.Leu354Val)	DRD5, SLC2A9 (L354V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2507407	NM_000798.5(DRD5):c.978C>T (p.Pro326=)	DRD5, SLC2A9	Single nucleotide variant (synonymous variant)	Schizophrenia +1 more	GUncertain significance
Select item 2497749	NM_020041.3(SLC2A9):c.250-213del	SLC2A9, SLC2A9-AS1	Deletion (intron variant)	not provided	GLikely benign
Select item 2482310	NM_020041.3(SLC2A9):c.388A>G (p.Met130Val)	SLC2A9, SLC2A9-AS1 (M101V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2481985	NM_000798.5(DRD5):c.69G>C (p.Gln23His)	DRD5, SLC2A9 (Q23H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2480667	NM_000798.5(DRD5):c.1123T>A (p.Cys375Ser)	DRD5, SLC2A9 (C375S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2480521	NM_000798.5(DRD5):c.772A>T (p.Arg258Trp)	DRD5, SLC2A9 (R258W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2478240	NM_000798.5(DRD5):c.991G>C (p.Ala331Pro)	DRD5, SLC2A9 (A331P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2478239	NM_000798.5(DRD5):c.770G>A (p.Arg257His)	DRD5, SLC2A9 (R257H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2473016	NM_000798.5(DRD5):c.877A>G (p.Lys293Glu)	DRD5, SLC2A9 (K293E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2470086	NM_000798.5(DRD5):c.340G>A (p.Asp114Asn)	DRD5, SLC2A9 (D114N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2469563	NM_000798.5(DRD5):c.1010G>C (p.Ser337Thr)	DRD5, SLC2A9 (S337T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2436015	NM_020041.3(SLC2A9):c.1105G>A (p.Val369Ile)	SLC2A9 (V340I +1 more)	Single nucleotide variant (missense variant)	Hypouricemia, renal, 2	GUncertain significance
Select item 2436014	NM_020041.3(SLC2A9):c.62C>T (p.Thr21Ile)	SLC2A9 (T21I)	Single nucleotide variant (missense variant +1 more)	Hypouricemia, renal, 2	GUncertain significance
Select item 2436013	NM_020041.3(SLC2A9):c.94G>A (p.Ala32Thr)	SLC2A9 (A32T)	Single nucleotide variant (missense variant +1 more)	Hypouricemia, renal, 2	GUncertain significance
Select item 2398254	NM_000798.5(DRD5):c.1339G>A (p.Gly447Ser)	DRD5, SLC2A9 (G447S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2394411	NM_000798.5(DRD5):c.122T>C (p.Val41Ala)	DRD5, SLC2A9 (V41A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2380310	NM_000798.5(DRD5):c.724A>G (p.Ile242Val)	SLC2A9, DRD5 (I242V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2372743	NM_000798.5(DRD5):c.1313T>C (p.Phe438Ser)	DRD5, SLC2A9 (F438S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2370359	NM_000798.5(DRD5):c.233T>G (p.Val78Gly)	DRD5, SLC2A9 (V78G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2367378	NM_000798.5(DRD5):c.83G>A (p.Gly28Glu)	DRD5, SLC2A9 (G28E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2364217	NM_000798.5(DRD5):c.723G>T (p.Met241Ile)	SLC2A9, DRD5 (M241I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2352642	NM_000798.5(DRD5):c.1028T>A (p.Val343Asp)	SLC2A9, DRD5 (V343D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2346810	NM_000798.5(DRD5):c.1337A>G (p.Asp446Gly)	DRD5, SLC2A9 (D446G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2316948	NM_000798.5(DRD5):c.1159G>A (p.Val387Met)	DRD5, SLC2A9 (V387M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2286139	NM_000798.5(DRD5):c.554C>T (p.Ala185Val)	DRD5, SLC2A9 (A185V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2262059	NM_000798.5(DRD5):c.251C>T (p.Ala84Val)	DRD5, SLC2A9 (A84V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2251353	NM_000798.5(DRD5):c.866A>G (p.Lys289Arg)	DRD5, SLC2A9 (K289R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2233209	NM_000798.5(DRD5):c.59A>C (p.Gln20Pro)	DRD5, SLC2A9 (Q20P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2113538	NM_020041.3(SLC2A9):c.372dup (p.Thr125fs)	SLC2A9, SLC2A9-AS1 (T96fs +1 more)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 1904364	NM_020041.3(SLC2A9):c.249+18C>T	LOC129992244, SLC2A9	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1897759	NM_020041.3(SLC2A9):c.403C>A (p.Leu135Ile)	SLC2A9, SLC2A9-AS1 (L106I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1801446	NM_020041.3(SLC2A9):c.682-8847_682-8846insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	SLC2A9	Insertion (intron variant)	Schizophrenia	GUncertain significance
Select item 1697108	NM_020041.3(SLC2A9):c.410+211C>T	SLC2A9, SLC2A9-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1287057	NM_000798.5(DRD5):c.*47T>C	DRD5, SLC2A9	Single nucleotide variant (3 prime UTR variant)	Hereditary attention deficit-hyperactivity disorder +1 more	GConflicting classifications of pathogenicity
Select item 1270964	NM_000798.5(DRD5):c.*178G>T	DRD5, SLC2A9	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1265368	NM_020041.3(SLC2A9):c.410+187_410+191dup	SLC2A9, SLC2A9-AS1	Duplication (intron variant)	not provided	GBenign
Select item 1247999	NM_020041.3(SLC2A9):c.250-40A>G	SLC2A9, SLC2A9-AS1	Single nucleotide variant (intron variant)	Hypouricemia, renal, 2 +1 more	GBenign
Select item 1243205	NM_000798.5(DRD5):c.-226G>C	DRD5, SLC2A9	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 1234312	NM_020041.3(SLC2A9):c.249+35C>T	LOC129992244, SLC2A9	Single nucleotide variant (intron variant)	Hypouricemia, renal, 2 +1 more	GBenign
Select item 1230669	NM_020041.3(SLC2A9):c.410+29G>T	SLC2A9, SLC2A9-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1226858	NM_020041.3(SLC2A9):c.249+119G>A	LOC129992244, SLC2A9	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1178833	NM_020041.3(SLC2A9):c.410+261G>A	SLC2A9, SLC2A9-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 687332	GRCh37/hg19 4p16.1(chr4:9794001-9833187)x1	SLC2A9	Copy number loss	not provided	GPathogenic
Select item 685255	GRCh37/hg19 4p16.1(chr4:9927512-9954773)x1	SLC2A9	Copy number loss	not provided	GPathogenic
Select item 592325	NM_000798.5(DRD5):c.262C>T (p.Leu88Phe)	DRD5, SLC2A9 (L88F)	Single nucleotide variant (missense variant)	DRD5-related condition +1 more	GBenign
Select item 591324	NM_020041.3(SLC2A9):c.1114-1G>C	SLC2A9	Single nucleotide variant (splice acceptor variant)	not provided	GUncertain significance
Select item 501082	NM_000798.5(DRD5):c.1086C>G (p.Asn362Lys)	DRD5, SLC2A9 (N362K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 350241	NM_020041.3(SLC2A9):c.250-9T>C	SLC2A9, SLC2A9-AS1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 350240	NM_020041.3(SLC2A9):c.322T>C (p.Leu108=)	SLC2A9, SLC2A9-AS1	Single nucleotide variant (synonymous variant)	Hypouricemia, renal, 2 +1 more	GBenign
Select item 350239	NM_020041.3(SLC2A9):c.351C>T (p.Phe117=)	SLC2A9, SLC2A9-AS1	Single nucleotide variant (synonymous variant)	Hypouricemia, renal, 2 +1 more	GBenign
Select item 350238	NM_020041.3(SLC2A9):c.354dup (p.Ile119fs)	SLC2A9, SLC2A9-AS1 (I90fs +1 more)	Duplication (frameshift variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 350237	NM_020041.3(SLC2A9):c.375G>A (p.Thr125=)	SLC2A9, SLC2A9-AS1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 347002	NM_020041.3(SLC2A9):c.249+11G>T	LOC129992244, SLC2A9	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 285972	NM_000798.5(DRD5):c.1184C>T (p.Ser395Phe)	DRD5, SLC2A9 (S395F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 217421	NM_020041.3(SLC2A9):c.374C>T (p.Thr125Met)	SLC2A9-AS1, SLC2A9 (T125M +1 more)	Single nucleotide variant (missense variant)	Hypouricemia, renal, 2	GLikely pathogenic
Select item 92005	NM_020041.3(SLC2A9):c.1240C>T (p.Leu414=)	SLC2A9	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 4594	NM_020041.3(SLC2A9):c.410+4190G>A	SLC2A9, SLC2A9-AS1	Single nucleotide variant (intron variant)	Uric acid concentration, serum, quantitative trait locus 2	Gassociation

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Items: 78