"GeneDx"[submitter] AND "IDUA"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 57898	GRCh38/hg38 4p16.3(chr4:56878-2213205)x1	LOC129991962, LOC129991963 +137 more	Copy number loss	See cases	GPathogenic
Select item 57874	GRCh38/hg38 4p16.3-15.33(chr4:56878-14499760)x1	ABLIM2, ACOX3 +597 more	Copy number loss	See cases	GPathogenic
Select item 57873	GRCh38/hg38 4p16.3(chr4:56878-3870653)x1	CTBP1-AS, CTBP1-DT +278 more	Copy number loss	See cases	GPathogenic
Select item 57905	GRCh38/hg38 4p16.3(chr4:72555-3206313)x1	ADD1, ATP5ME +249 more	Copy number loss	See cases	GPathogenic
Select item 57904	GRCh38/hg38 4p16.3(chr4:72555-3785385)x1	LOC123466217, LOC123466218 +277 more	Copy number loss	See cases	GPathogenic
Select item 146010	GRCh38/hg38 4p16.3-16.1(chr4:78578-10335613)x1	LOC129992049, LOC129992050 +537 more	Copy number loss	See cases	GPathogenic
Select item 145991	GRCh38/hg38 4p16.3(chr4:78578-3363219)x1	LOC129992097, LOC129992098 +256 more	Copy number loss	See cases	GPathogenic
Select item 59418	GRCh38/hg38 4p16.3(chr4:85149-2008535)x1	ATP5ME, CPLX1 +127 more	Copy number loss	See cases	GPathogenic
Select item 59417	GRCh38/hg38 4p16.3(chr4:85149-1919505)x1	ATP5ME, CPLX1 +124 more	Copy number loss	See cases	GPathogenic
Select item 57939	GRCh38/hg38 4p16.3(chr4:85149-4405782)x1	ADD1, ADRA2C +291 more	Copy number loss	See cases	GPathogenic
Select item 57938	GRCh38/hg38 4p16.3-16.1(chr4:85149-7843616)x1	LOC129992176, LOC129992177 +439 more	Copy number loss	See cases	GPathogenic
Select item 57936	GRCh38/hg38 4p16.3-16.1(chr4:85149-7063699)x1	ADD1, ADRA2C +414 more	Copy number loss	See cases	GPathogenic
Select item 145218	GRCh38/hg38 4p16.3(chr4:958618-1026629)x3	DGKQ, FGFRL1 +11 more	Copy number gain	See cases	GBenign/Likely benign
Select item 151680	GRCh38/hg38 4p16.3(chr4:958677-1026629)x4	DGKQ, LOC129991972 +10 more	Copy number gain	See cases	GBenign
Select item 151720	GRCh38/hg38 4p16.3(chr4:975137-1026688)x3	FGFRL1, IDUA +7 more	Copy number gain	See cases	GBenign
Select item 145228	GRCh38/hg38 4p16.3(chr4:975137-1026629)x3	FGFRL1, IDUA +7 more	Copy number gain	See cases	GBenign/Likely benign
Select item 1271915	NC_000004.12:g.986676A>G	IDUA, LOC129991970 +1 more	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1208686	NC_000004.12:g.986813C>G	IDUA, SLC26A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1187622	NC_000004.12:g.986922C>T	IDUA, SLC26A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 92638	NM_000203.5(IDUA):c.24C>A (p.Ala8=)	IDUA, SLC26A1	Single nucleotide variant (synonymous variant +2 more)	not provided +2 more	GBenign
Select item 3367972	NM_000203.5(IDUA):c.29T>C (p.Leu10Pro)	IDUA, SLC26A1 (L10P)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 92643	NM_000203.5(IDUA):c.46_57del (p.Ser16_Ala19del)	IDUA, SLC26A1	Deletion (non-coding transcript variant +1 more)	Mucopolysaccharidosis type 1 +4 more	GPathogenic
Select item 193062	NM_000203.5(IDUA):c.53T>C (p.Leu18Pro)	IDUA, SLC26A1 (L18P)	Single nucleotide variant (missense variant +2 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 92647	NM_000203.5(IDUA):c.60G>A (p.Ala20=)	IDUA, SLC26A1	Single nucleotide variant (synonymous variant +2 more)	Mucopolysaccharidosis type 1 +2 more	GBenign
Select item 712785	NM_000203.5(IDUA):c.76G>A (p.Ala26Thr)	IDUA, SLC26A1 (A26T)	Single nucleotide variant (missense variant +2 more)	Mucopolysaccharidosis type 1 +1 more	GConflicting classifications of pathogenicity
Select item 92651	NM_000203.5(IDUA):c.99T>G (p.His33Gln)	IDUA, SLC26A1 (H33Q)	Single nucleotide variant (missense variant +2 more)	Mucopolysaccharidosis, MPS-I-H/S +5 more	GBenign
Select item 1400948	NM_000203.5(IDUA):c.193G>A (p.Val65Ile)	IDUA, SLC26A1 (V65I)	Single nucleotide variant (3 prime UTR variant +3 more)	Mucopolysaccharidosis type 1 +1 more	GUncertain significance
Select item 11909	NM_000203.5(IDUA):c.208C>T (p.Gln70Ter)	SLC26A1, IDUA (Q70*)	Single nucleotide variant (3 prime UTR variant +3 more)	Interstitial pneumonitis +7 more	GPathogenic
Select item 195038	NM_000203.5(IDUA):c.235G>A (p.Ala79Thr)	IDUA, SLC26A1 (A79T)	Single nucleotide variant (3 prime UTR variant +3 more)	Hurler syndrome +4 more	GBenign/Likely benign; other
Select item 195039	NM_000203.5(IDUA):c.245A>C (p.His82Pro)	IDUA, SLC26A1 (H82P)	Single nucleotide variant (3 prime UTR variant +3 more)	Mucopolysaccharidosis type 1 +3 more	GConflicting classifications of pathogenicity
Select item 92637	NM_000203.5(IDUA):c.246C>G (p.His82Gln)	IDUA, SLC26A1 (H82Q)	Single nucleotide variant (3 prime UTR variant +3 more)	Inborn genetic diseases +4 more	GConflicting classifications of pathogenicity; other
Select item 839353	NM_000203.5(IDUA):c.247C>T (p.Arg83Cys)	IDUA, SLC26A1 (R83C)	Single nucleotide variant (3 prime UTR variant +3 more)	Mucopolysaccharidosis type 1 +1 more	GUncertain significance
Select item 726495	NM_000203.5(IDUA):c.250G>A (p.Gly84Ser)	IDUA, SLC26A1 (G84S)	Single nucleotide variant (3 prime UTR variant +3 more)	Mucopolysaccharidosis type 1 +2 more	GUncertain significance
Select item 1016677	NM_000203.5(IDUA):c.287T>G (p.Leu96Arg)	IDUA, SLC26A1 (L96R)	Single nucleotide variant (3 prime UTR variant +3 more)	Mucopolysaccharidosis type 1 +1 more	GUncertain significance
Select item 280992	NM_000203.5(IDUA):c.296C>T (p.Thr99Ile)	IDUA, SLC26A1 (T99I)	Single nucleotide variant (3 prime UTR variant +3 more)	not provided +2 more	GBenign
Select item 92640	NM_000203.5(IDUA):c.299+6C>T	IDUA, SLC26A1	Single nucleotide variant (3 prime UTR variant +1 more)	Hurler syndrome +4 more	GBenign
Select item 1317636	NM_022042.4(SLC26A1):c.*276G>A	SLC26A1, IDUA	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1250685	NM_022042.4(SLC26A1):c.*274G>A	IDUA, SLC26A1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1166786	NM_022042.4(SLC26A1):c.1875C>T (p.Ala625=)	IDUA, SLC26A1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 1166787	NM_022042.4(SLC26A1):c.1667A>G (p.Gln556Arg)	IDUA, SLC26A1 (Q556R)	Single nucleotide variant (missense variant +1 more)	Calcium oxalate urolithiasis +1 more	GBenign
Select item 64583	NM_000203.5(IDUA):c.299+1368C>T	IDUA, SLC26A1 (R541H)	Single nucleotide variant (missense variant +1 more)	Calcium oxalate urolithiasis +3 more	GUncertain significance
Select item 1168586	NM_022042.4(SLC26A1):c.1333G>A (p.Val445Ile)	IDUA, SLC26A1 (V445I)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 1169659	NM_022042.4(SLC26A1):c.1059C>T (p.Ala353=)	IDUA, SLC26A1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 1166788	NM_022042.4(SLC26A1):c.918G>A (p.Ser306=)	IDUA, SLC26A1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 3369358	NM_000203.5(IDUA):c.299+2403C>A	IDUA, SLC26A1 (G196V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1240621	NM_022042.4(SLC26A1):c.577-120G>A	IDUA, SLC26A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1231910	NM_022042.4(SLC26A1):c.577-184A>G	IDUA, SLC26A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1316237	NM_022042.4(SLC26A1):c.577-223C>T	IDUA, SLC26A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1272448	NM_022042.4(SLC26A1):c.577-263C>T	IDUA, SLC26A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1317840	NM_022042.4(SLC26A1):c.576+212C>T	IDUA, SLC26A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1247175	NM_022042.4(SLC26A1):c.576+89A>C	IDUA, SLC26A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1317878	NM_022042.4(SLC26A1):c.576+55T>C	IDUA, SLC26A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1264937	NM_022042.4(SLC26A1):c.576+46C>G	SLC26A1, IDUA	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1305202	NM_000203.5(IDUA):c.299+3558C>T	IDUA, SLC26A1 (R66Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 786509	NM_022042.4(SLC26A1):c.171G>A (p.Thr57=)	IDUA, SLC26A1	Single nucleotide variant (synonymous variant +1 more)	Calcium oxalate urolithiasis +1 more	GBenign
Select item 1166796	NM_000203.5(IDUA):c.299+3632G>C	IDUA, SLC26A1 (C41W)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign/Likely benign
Select item 778136	NM_022042.4(SLC26A1):c.120G>A (p.Ser40=)	IDUA, SLC26A1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 1185530	NM_000203.5(IDUA):c.299+3990A>G	IDUA, SLC26A1	Single nucleotide variant (intron variant)	not provided +3 more	GBenign
Select item 1290565	NM_022042.4(SLC26A1):c.-27-308G>A	IDUA, SLC26A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1282922	NM_000203.5(IDUA):c.300-246C>T	IDUA	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1193296	NM_000203.5(IDUA):c.300-242C>T	IDUA	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 255526	NM_000203.5(IDUA):c.300-44C>T	IDUA	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 92641	NM_000203.5(IDUA):c.314G>A (p.Arg105Gln)	IDUA (R105Q)	Single nucleotide variant (missense variant +2 more)	Mucopolysaccharidosis type 1 +5 more	GBenign
Select item 712837	NM_000203.5(IDUA):c.346G>A (p.Gly116Arg)	IDUA (G116R)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GBenign/Likely benign
Select item 92642	NM_000203.5(IDUA):c.352C>T (p.Leu118=)	IDUA	Single nucleotide variant (synonymous variant +2 more)	Hurler syndrome +5 more	GBenign
Select item 222994	NM_000203.5(IDUA):c.386-2A>G	IDUA	Single nucleotide variant (splice acceptor variant)	Hurler syndrome +3 more	GPathogenic
Select item 964816	NM_000203.5(IDUA):c.406G>A (p.Ala136Thr)	IDUA (A136T +1 more)	Single nucleotide variant (missense variant +1 more)	Mucopolysaccharidosis type 1 +2 more	GUncertain significance
Select item 1211065	NM_000203.5(IDUA):c.493+123T>G	IDUA	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1193308	NM_000203.5(IDUA):c.493+132G>C	IDUA	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1245253	NM_000203.5(IDUA):c.493+205G>A	IDUA	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 680617	NM_000203.5(IDUA):c.494-198_494-179del	IDUA	Microsatellite (intron variant)	not provided	GBenign
Select item 1233486	NM_000203.5(IDUA):c.494-149C>G	IDUA	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2432699	NM_000203.5(IDUA):c.514G>A (p.Val172Ile)	IDUA (V172I +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2203495	NM_000203.5(IDUA):c.532G>A (p.Glu178Lys)	IDUA (E46K +1 more)	Single nucleotide variant (missense variant +1 more)	Mucopolysaccharidosis type 1 +1 more	GPathogenic/Likely pathogenic
Select item 1455223	NM_000203.5(IDUA):c.536C>T (p.Thr179Met)	IDUA (T47M +1 more)	Single nucleotide variant (missense variant +1 more)	Mucopolysaccharidosis type 1 +1 more	GPathogenic/Likely pathogenic
Select item 92645	NM_000203.5(IDUA):c.543T>C (p.Asn181=)	IDUA	Single nucleotide variant (synonymous variant +1 more)	Hurler syndrome +5 more	GBenign
Select item 424024	NM_000203.5(IDUA):c.554A>C (p.His185Pro)	IDUA (H185P +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely pathogenic
Select item 255528	NM_000203.5(IDUA):c.590-45G>C	IDUA	Single nucleotide variant (intron variant)	Mucopolysaccharidosis, MPS-I-H/S +4 more	GBenign
Select item 92646	NM_000203.5(IDUA):c.590-8C>T	IDUA	Single nucleotide variant (intron variant)	Hurler syndrome +5 more	GBenign
Select item 426817	NM_000203.5(IDUA):c.667G>A (p.Asp223Asn)	IDUA (D223N +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GBenign/Likely benign; other
Select item 2501887	NM_000203.5(IDUA):c.707G>A (p.Gly236Asp)	IDUA (G104D +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 791065	NM_000203.5(IDUA):c.709C>T (p.Leu237Phe)	IDUA (L105F +1 more)	Single nucleotide variant (missense variant +1 more)	Mucopolysaccharidosis type 1 +1 more	GBenign/Likely benign
Select item 265418	NM_000203.5(IDUA):c.713T>A (p.Leu238Gln)	IDUA (L238Q +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 551938	NM_000203.5(IDUA):c.739TTC[1] (p.Phe248del)	IDUA (F248del +1 more)	Microsatellite (inframe_deletion +1 more)	not provided +1 more	GUncertain significance
Select item 752768	NM_000203.5(IDUA):c.793-4G>T	IDUA	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 905910	NM_000203.5(IDUA):c.806C>G (p.Ser269Cys)	IDUA (S137C +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 1313596	NM_000203.5(IDUA):c.848T>C (p.Ile283Thr)	IDUA (I151T +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 456720	NM_000203.5(IDUA):c.876del (p.Asp292fs)	IDUA (D160fs +1 more)	Deletion (frameshift variant +1 more)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 92649	NM_000203.5(IDUA):c.891C>T (p.Asn297=)	IDUA	Single nucleotide variant (synonymous variant +1 more)	not specified +6 more	GBenign/Likely benign
Select item 92650	NM_000203.5(IDUA):c.942G>C (p.Ala314=)	IDUA	Single nucleotide variant (synonymous variant +1 more)	not specified +5 more	GBenign
Select item 255529	NM_000203.5(IDUA):c.972+48A>G	IDUA	Single nucleotide variant (intron variant)	not provided +4 more	GBenign
Select item 255530	NM_000203.5(IDUA):c.973-45G>C	IDUA	Single nucleotide variant (intron variant)	not provided +4 more	GBenign
Select item 167190	NM_000203.5(IDUA):c.979G>C (p.Ala327Pro)	IDUA (A327P +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 1179703	NM_000203.5(IDUA):c.1001T>G (p.Leu334Arg)	IDUA (L202R +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 950889	NM_000203.5(IDUA):c.1046A>G (p.Asp349Gly)	IDUA (D217G +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 92624	NM_000203.5(IDUA):c.1081G>A (p.Ala361Thr)	IDUA (A361T +1 more)	Single nucleotide variant (missense variant +1 more)	Mucopolysaccharidosis type 1 +3 more	GBenign
Select item 1310430	NM_000203.5(IDUA):c.1102C>T (p.Arg368Cys)	IDUA (R236C +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 373483	NM_000203.5(IDUA):c.1118A>C (p.Asn373Thr)	IDUA (N373T +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 558615	NM_000203.5(IDUA):c.1163C>T (p.Thr388Met)	IDUA (T388M +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 92625	NM_000203.5(IDUA):c.1164G>C (p.Thr388=)	IDUA	Single nucleotide variant (synonymous variant +1 more)	not specified +2 more	GBenign

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