C0086795[trait identifier] AND "Counsyl"[submitter] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 550458	NM_000203.5(IDUA):c.1A>C (p.Met1Leu)	IDUA, SLC26A1 (M1L)	Single nucleotide variant (missense variant +3 more)	Mucopolysaccharidosis type 1 +1 more	GPathogenic
Select item 557150	NM_000203.5(IDUA):c.3G>A (p.Met1Ile)	IDUA, SLC26A1 (M1I)	Single nucleotide variant (missense variant +3 more)	Hurler syndrome +1 more	GLikely pathogenic
Select item 553106	NM_000203.5(IDUA):c.34_45dup (p.Ala15_Ser16insAlaLeuLeuAla)	IDUA, SLC26A1	Duplication (inframe_insertion +2 more)	Hurler syndrome	GUncertain significance
Select item 193062	NM_000203.5(IDUA):c.53T>C (p.Leu18Pro)	IDUA, SLC26A1 (L18P)	Single nucleotide variant (missense variant +2 more)	Mucopolysaccharidosis type 1 +2 more	GConflicting classifications of pathogenicity
Select item 553915	NM_000203.5(IDUA):c.60_61delinsA (p.Pro22fs)	IDUA, SLC26A1 (P22fs)	Indel (frameshift variant +2 more)	Hurler syndrome +1 more	GPathogenic/Likely pathogenic
Select item 553029	NM_000203.5(IDUA):c.64C>T (p.Pro22Ser)	IDUA, SLC26A1 (P22S)	Single nucleotide variant (missense variant +2 more)	Hurler syndrome	GUncertain significance
Select item 552124	NM_000203.5(IDUA):c.69_77del (p.Ala24_Ala26del)	IDUA, SLC26A1	Deletion (inframe_deletion +2 more)	Hurler syndrome	GUncertain significance
Select item 193061	NM_000203.5(IDUA):c.152G>A (p.Gly51Asp)	IDUA, SLC26A1 (G51D)	Single nucleotide variant (missense variant +2 more)	Mucopolysaccharidosis type 1 +4 more	GPathogenic
Select item 554280	NM_000203.5(IDUA):c.156C>G (p.Phe52Leu)	IDUA, SLC26A1 (F52L)	Single nucleotide variant (missense variant +2 more)	Mucopolysaccharidosis, MPS-I-S +2 more	GUncertain significance
Select item 556690	NM_000203.5(IDUA):c.159-1G>A	IDUA, SLC26A1	Single nucleotide variant (3 prime UTR variant +2 more)	Hurler syndrome +1 more	GLikely pathogenic
Select item 195040	NM_000203.5(IDUA):c.191_192del (p.Tyr64fs)	SLC26A1, IDUA (Y64fs)	Deletion (3 prime UTR variant +3 more)	Mucopolysaccharidosis type 1 +2 more	GPathogenic/Likely pathogenic
Select item 11914	NM_000203.5(IDUA):c.192C>A (p.Tyr64Ter)	IDUA, SLC26A1 (Y64*)	Single nucleotide variant (3 prime UTR variant +3 more)	Mucopolysaccharidosis type 1 +2 more	GPathogenic
Select item 64576	NM_000203.4(IDUA):c.199A>T (p.Ser67Cys)	IDUA, SLC26A1 (S67C)	Single nucleotide variant (3 prime UTR variant +3 more)	Hurler syndrome +1 more	GUncertain significance
Select item 222993	NM_000203.5(IDUA):c.223G>A (p.Ala75Thr)	IDUA, SLC26A1 (A75T)	Single nucleotide variant (missense variant +3 more)	Mucopolysaccharidosis type 1 +2 more	GPathogenic
Select item 552686	NM_000203.5(IDUA):c.227A>G (p.Tyr76Cys)	IDUA, SLC26A1 (Y76C)	Single nucleotide variant (3 prime UTR variant +3 more)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 195038	NM_000203.5(IDUA):c.235G>A (p.Ala79Thr)	IDUA, SLC26A1 (A79T)	Single nucleotide variant (3 prime UTR variant +3 more)	Mucopolysaccharidosis type 1 +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)	Mucopolysaccharidosis type 1 +4 more	GConflicting classifications of pathogenicity; other
Select item 281005	NM_000203.5(IDUA):c.299G>A (p.Arg100Lys)	IDUA, SLC26A1 (R100K)	Single nucleotide variant (3 prime UTR variant +3 more)	not provided +1 more	GUncertain significance
Select item 92639	NM_000203.5(IDUA):c.299+1G>T	IDUA, SLC26A1	Single nucleotide variant (splice donor variant +2 more)	Mucopolysaccharidosis type 1 +2 more	GPathogenic/Likely pathogenic
Select item 557175	NM_022042.4(SLC26A1):c.1915del (p.Ala639fs)	SLC26A1, IDUA (A639fs)	Deletion (frameshift variant +1 more)	Hurler syndrome	GLikely benign
Select item 555979	NM_022042.4(SLC26A1):c.1903C>T (p.Arg635Ter)	IDUA, SLC26A1 (R635*)	Single nucleotide variant (nonsense +1 more)	Hurler syndrome	GLikely benign
Select item 555367	NM_022042.4(SLC26A1):c.1901del (p.Arg634fs)	SLC26A1, IDUA (R634fs)	Deletion (frameshift variant +1 more)	Hurler syndrome	GLikely benign
Select item 64587	NM_022042.4(SLC26A1):c.1886C>T (p.Thr629Met)	IDUA, SLC26A1 (T629M)	Single nucleotide variant (missense variant +1 more)	Hurler syndrome	GLikely benign
Select item 553040	NM_022042.4(SLC26A1):c.1864del (p.Phe621_Leu622insTer)	IDUA, SLC26A1	Deletion (nonsense +1 more)	Hurler syndrome	GLikely benign
Select item 555513	NM_022042.4(SLC26A1):c.1778del (p.Leu593fs)	IDUA, SLC26A1 (L593fs)	Deletion (frameshift variant +1 more)	Hurler syndrome +1 more	GUncertain significance
Select item 555941	NM_022042.4(SLC26A1):c.1765C>T (p.Gln589Ter)	SLC26A1, IDUA (Q589*)	Single nucleotide variant (nonsense +1 more)	Hurler syndrome	GLikely benign
Select item 554473	NM_022042.4(SLC26A1):c.1732_1758del (p.Ser578_Gly586del)	IDUA, SLC26A1	Deletion (inframe_deletion +1 more)	Hurler syndrome	GLikely benign
Select item 552126	NM_022042.4(SLC26A1):c.1754del (p.Gly585fs)	IDUA, SLC26A1 (G585fs)	Deletion (frameshift variant +1 more)	Hurler syndrome	GLikely benign
Select item 550680	NM_022042.4(SLC26A1):c.1735del (p.Glu579fs)	IDUA, SLC26A1 (E579fs)	Deletion (frameshift variant +1 more)	Hurler syndrome	GLikely benign
Select item 64586	NM_022042.4(SLC26A1):c.1711G>A (p.Ala571Thr)	IDUA, SLC26A1 (A571T)	Single nucleotide variant (missense variant +1 more)	Hurler syndrome	GLikely benign
Select item 551515	NM_022042.4(SLC26A1):c.1677del (p.Leu558_Tyr559insTer)	IDUA, SLC26A1	Deletion (nonsense +1 more)	Hurler syndrome	GLikely benign
Select item 554838	NM_022042.4(SLC26A1):c.1632dup (p.Pro545fs)	IDUA, SLC26A1 (P545fs)	Duplication (frameshift variant +1 more)	Hurler syndrome	GLikely benign
Select item 551085	NM_022042.4(SLC26A1):c.1631_1632del (p.Gly544fs)	IDUA, SLC26A1 (G544fs)	Deletion (frameshift variant +1 more)	Hurler syndrome	GLikely benign
Select item 554794	NM_022042.4(SLC26A1):c.1577_1578del (p.Thr526fs)	SLC26A1, IDUA (T526fs)	Microsatellite (frameshift variant +1 more)	Hurler syndrome	GLikely benign
Select item 556616	NM_022042.4(SLC26A1):c.1484del (p.Ile495fs)	IDUA, SLC26A1 (I495fs)	Deletion (frameshift variant +1 more)	Hurler syndrome	GLikely benign
Select item 64580	NM_022042.4(SLC26A1):c.1448T>A (p.Leu483Gln)	IDUA, SLC26A1 (L483Q)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 64578	NM_022042.4(SLC26A1):c.1363C>T (p.Arg455Cys)	IDUA, SLC26A1 (R455C)	Single nucleotide variant (missense variant +1 more)	Hurler syndrome	GLikely benign
Select item 551870	NM_022042.4(SLC26A1):c.1357del (p.Ala453fs)	IDUA, SLC26A1 (A453fs)	Deletion (frameshift variant +1 more)	Hurler syndrome	GLikely benign
Select item 64591	NM_022042.4(SLC26A1):c.433G>A (p.Gly145Ser)	IDUA, SLC26A1 (G145S)	Single nucleotide variant (missense variant +1 more)	Hurler syndrome	GLikely benign
Select item 553641	NM_022042.4(SLC26A1):c.395T>C (p.Met132Thr)	IDUA, SLC26A1 (M132T)	Single nucleotide variant (missense variant +1 more)	Hurler syndrome	GLikely benign
Select item 64590	NM_022042.4(SLC26A1):c.356G>A (p.Arg119Gln)	IDUA, SLC26A1 (R119Q)	Single nucleotide variant (missense variant +1 more)	Hurler syndrome +1 more	GConflicting classifications of pathogenicity
Select item 551664	NM_022042.4(SLC26A1):c.347del (p.Gly116fs)	SLC26A1, IDUA (G116fs)	Deletion (frameshift variant +1 more)	Hurler syndrome	GLikely benign
Select item 556223	NM_022042.4(SLC26A1):c.331_345dup (p.Ile111_Met115dup)	SLC26A1, IDUA	Duplication (inframe_insertion +1 more)	Hurler syndrome	GLikely benign
Select item 552344	NM_022042.4(SLC26A1):c.335del (p.Tyr112fs)	IDUA, SLC26A1 (Y112fs)	Deletion (frameshift variant +1 more)	Hurler syndrome	GLikely benign
Select item 557622	NM_022042.4(SLC26A1):c.310_311del (p.Thr104fs)	IDUA, SLC26A1 (T104fs)	Deletion (frameshift variant +1 more)	Hurler syndrome	GLikely benign
Select item 551058	NM_022042.4(SLC26A1):c.309T>A (p.Tyr103Ter)	IDUA, SLC26A1 (Y103*)	Single nucleotide variant (nonsense +1 more)	Hurler syndrome	GLikely benign
Select item 552694	NM_022042.4(SLC26A1):c.300C>A (p.Tyr100Ter)	IDUA, SLC26A1 (Y100*)	Single nucleotide variant (nonsense +1 more)	Hurler syndrome	GLikely benign
Select item 555908	NM_022042.4(SLC26A1):c.189C>A (p.Tyr63Ter)	IDUA, SLC26A1 (Y63*)	Single nucleotide variant (nonsense +1 more)	Hurler syndrome	GLikely benign
Select item 557950	NM_022042.4(SLC26A1):c.154del (p.Asp52fs)	SLC26A1, IDUA (D52fs)	Deletion (frameshift variant +1 more)	Hurler syndrome	GLikely benign
Select item 552147	NM_022042.4(SLC26A1):c.139del (p.Arg47fs)	IDUA, SLC26A1 (R47fs)	Deletion (frameshift variant +1 more)	Hurler syndrome	GLikely benign
Select item 551563	NM_000203.5(IDUA):c.300-3C>G	IDUA	Single nucleotide variant (intron variant)	Mucopolysaccharidosis type 1 +1 more	GConflicting classifications of pathogenicity
Select item 557332	NM_000203.5(IDUA):c.300-1G>A	IDUA	Single nucleotide variant (splice acceptor variant)	Hurler syndrome	GLikely pathogenic
Select item 551966	NM_000203.5(IDUA):c.385+1G>C	IDUA	Single nucleotide variant (splice donor variant)	Mucopolysaccharidosis type 1 +1 more	GPathogenic
Select item 222994	NM_000203.5(IDUA):c.386-2A>G	IDUA	Single nucleotide variant (splice acceptor variant)	Mucopolysaccharidosis type 1 +3 more	GPathogenic
Select item 552254	NM_000203.5(IDUA):c.399G>C (p.Met133Ile)	IDUA (M133I +1 more)	Single nucleotide variant (missense variant +2 more)	Hurler syndrome +1 more	GUncertain significance
Select item 550594	NM_000203.5(IDUA):c.485G>A (p.Arg162Lys)	IDUA (R162K +1 more)	Single nucleotide variant (missense variant +1 more)	Hurler syndrome	GUncertain significance
Select item 554373	NM_000203.5(IDUA):c.488dup (p.Tyr163Ter)	IDUA (Y163* +1 more)	Duplication (nonsense +1 more)	Hurler syndrome	GLikely pathogenic
Select item 558143	NM_000203.5(IDUA):c.493+1G>A	IDUA	Single nucleotide variant (splice donor variant)	Hurler syndrome	GLikely pathogenic
Select item 557942	NM_000203.5(IDUA):c.494-1G>A	IDUA	Single nucleotide variant (splice acceptor variant)	Hurler syndrome	GPathogenic
Select item 556358	NM_000203.5(IDUA):c.536C>G (p.Thr179Arg)	IDUA (T179R +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Mucopolysaccharidosis type 1 +1 more	GPathogenic/Likely pathogenic
Select item 558477	NM_000203.5(IDUA):c.542dup (p.Asn181fs)	IDUA (N181fs +1 more)	Duplication (frameshift variant +1 more)	Mucopolysaccharidosis type 1 +2 more	GPathogenic/Likely pathogenic
Select item 551348	NM_000203.5(IDUA):c.548C>G (p.Pro183Arg)	IDUA (P183R +1 more)	Single nucleotide variant (missense variant +1 more)	Mucopolysaccharidosis type 1 +1 more	GConflicting classifications of pathogenicity
Select item 558079	NM_000203.5(IDUA):c.589+1G>A	IDUA	Single nucleotide variant (splice donor variant)	Hurler syndrome +1 more	GLikely pathogenic
Select item 222996	NM_000203.5(IDUA):c.590-7G>A	IDUA	Single nucleotide variant (intron variant)	Mucopolysaccharidosis type 1 +2 more	GPathogenic
Select item 554670	NM_000203.5(IDUA):c.590G>A (p.Gly197Asp)	IDUA (G197D +1 more)	Single nucleotide variant (missense variant +1 more)	Hurler syndrome	GUncertain significance
Select item 556314	NM_000203.5(IDUA):c.601TAC[3] (p.Tyr202dup)	IDUA	Microsatellite (inframe_insertion +1 more)	Hurler syndrome	GUncertain significance
Select item 552333	NM_000203.5(IDUA):c.606C>A (p.Tyr202Ter)	IDUA (Y202* +1 more)	Single nucleotide variant (nonsense +1 more)	Mucopolysaccharidosis type 1 +1 more	GPathogenic
Select item 11921	NM_000203.5(IDUA):c.613_617dup (p.Glu207fs)	IDUA (E207fs +1 more)	Duplication (frameshift variant +1 more)	Mucopolysaccharidosis type 1 +1 more	GPathogenic
Select item 554590	NM_000203.5(IDUA):c.623G>A (p.Gly208Asp)	IDUA (G208D +1 more)	Single nucleotide variant (missense variant +1 more)	Mucopolysaccharidosis type 1 +2 more	GPathogenic/Likely pathogenic
Select item 557528	NM_000203.5(IDUA):c.637_645dup (p.Ser213_Ala215dup)	IDUA	Duplication (inframe_insertion +1 more)	not provided +2 more	GUncertain significance
Select item 551861	NM_000203.5(IDUA):c.640_642dup (p.Pro214dup)	IDUA	Duplication (inframe_insertion +1 more)	Mucopolysaccharidosis type 1 +2 more	GUncertain significance
Select item 222995	NM_000203.5(IDUA):c.653T>C (p.Leu218Pro)	IDUA (L218P +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +4 more	GPathogenic
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 554213	NM_000203.5(IDUA):c.757G>T (p.Gly253Cys)	IDUA (G253C +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +4 more	GConflicting classifications of pathogenicity
Select item 550605	NM_000203.5(IDUA):c.787A>T (p.Arg263Trp)	IDUA (R263W +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +3 more	GUncertain significance
Select item 557472	NM_000203.5(IDUA):c.793-1G>A	IDUA	Single nucleotide variant (splice acceptor variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 553227	NM_000203.5(IDUA):c.820G>T (p.Glu274Ter)	IDUA (E274* +1 more)	Single nucleotide variant (nonsense +1 more)	Mucopolysaccharidosis type 1 +1 more	GPathogenic/Likely pathogenic
Select item 550382	NM_000203.5(IDUA):c.878_889dup (p.Thr293_Tyr296dup)	IDUA	Duplication (inframe_insertion +1 more)	Mucopolysaccharidosis type 1 +1 more	GPathogenic/Likely pathogenic
Select item 558316	NM_000203.5(IDUA):c.886_894dup (p.Tyr296_Asp298dup)	IDUA	Duplication (inframe_insertion +1 more)	Hurler syndrome	GUncertain significance
Select item 11923	NM_000203.5(IDUA):c.898G>A (p.Ala300Thr)	IDUA (A300T +1 more)	Single nucleotide variant (missense variant +1 more)	Mucopolysaccharidosis type 1 +2 more	GConflicting classifications of pathogenicity
Select item 502243	NM_000203.5(IDUA):c.923T>C (p.Leu308Pro)	IDUA (L308P +1 more)	Single nucleotide variant (missense variant +1 more)	Mucopolysaccharidosis type 1 +2 more	GConflicting classifications of pathogenicity
Select item 550272	NM_000203.5(IDUA):c.946G>A (p.Val316Met)	IDUA (V316M +1 more)	Single nucleotide variant (missense variant +1 more)	Hurler syndrome	GUncertain significance
Select item 222992	NM_000203.5(IDUA):c.965T>A (p.Val322Glu)	IDUA (V322E +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GBenign/Likely benign; other
Select item 558027	NM_000203.5(IDUA):c.973-4G>A	IDUA	Single nucleotide variant (intron variant)	Hurler syndrome	GUncertain significance
Select item 553372	NM_000203.5(IDUA):c.975_980del (p.Ile326_Ala327del)	IDUA	Deletion (inframe_deletion +1 more)	Hurler syndrome	GUncertain significance
Select item 167190	NM_000203.5(IDUA):c.979G>C (p.Ala327Pro)	IDUA (A327P +1 more)	Single nucleotide variant (missense variant +1 more)	Mucopolysaccharidosis type 1 +2 more	GPathogenic/Likely pathogenic
Select item 550474	NM_000203.5(IDUA):c.1029C>G (p.Tyr343Ter)	IDUA (Y343* +1 more)	Single nucleotide variant (nonsense +1 more)	Mucopolysaccharidosis type 1 +2 more	GPathogenic/Likely pathogenic
Select item 11927	NM_000203.5(IDUA):c.1037T>G (p.Leu346Arg)	IDUA (L346R +1 more)	Single nucleotide variant (missense variant +1 more)	Mucopolysaccharidosis type 1 +1 more	GPathogenic
Select item 557885	NM_000203.5(IDUA):c.1045_1047del (p.Asp349del)	IDUA (D349del +1 more)	Deletion (inframe_deletion +1 more)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 557870	NM_000203.5(IDUA):c.1044C>G (p.Asn348Lys)	IDUA (N348K +1 more)	Single nucleotide variant (missense variant +1 more)	Mucopolysaccharidosis type 1 +2 more	GPathogenic/Likely pathogenic
Select item 557260	NM_000203.5(IDUA):c.1073_1093del (p.His358_Thr364del)	IDUA	Deletion (inframe_deletion +1 more)	Hurler syndrome +2 more	GConflicting classifications of pathogenicity
Select item 550409	NM_000203.5(IDUA):c.1083G>A (p.Ala361=)	IDUA	Single nucleotide variant (synonymous variant +1 more)	Hurler syndrome	GLikely benign
Select item 557205	NM_000203.5(IDUA):c.1087C>T (p.Arg363Cys)	IDUA (R363C +1 more)	Single nucleotide variant (missense variant +1 more)	Hurler syndrome +2 more	GConflicting classifications of pathogenicity
Select item 11925	NM_000203.5(IDUA):c.1091C>T (p.Thr364Met)	IDUA (T364M +1 more)	Single nucleotide variant (missense variant +1 more)	Mucopolysaccharidosis type 1 +1 more	GPathogenic
Select item 554765	NM_000203.5(IDUA):c.1115A>G (p.Asn372Ser)	IDUA (N372S +1 more)	Single nucleotide variant (missense variant +1 more)	Mucopolysaccharidosis type 1 +1 more	GConflicting classifications of pathogenicity
Select item 550799	NM_000203.5(IDUA):c.1139A>G (p.Gln380Arg)	IDUA (Q380R +1 more)	Single nucleotide variant (missense variant +1 more)	Mucopolysaccharidosis type 1 +2 more	GPathogenic
Select item 558189	NM_000203.5(IDUA):c.1148G>A (p.Arg383His)	IDUA (R383H +1 more)	Single nucleotide variant (missense variant +1 more)	Hurler syndrome +2 more	GPathogenic/Likely pathogenic
Select item 556024	NM_000203.5(IDUA):c.1154C>G (p.Pro385Arg)	IDUA (P385R +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance

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