"Ambry Genetics"[submitter] AND "IDUA"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 526832	NM_000203.5(IDUA):c.11T>C (p.Leu4Pro)	IDUA, SLC26A1 (L4P)	Single nucleotide variant (missense variant +2 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1750962	NM_000203.5(IDUA):c.59C>T (p.Ala20Val)	IDUA, SLC26A1 (A20V)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 1000369	NM_000203.5(IDUA):c.64C>G (p.Pro22Ala)	IDUA, SLC26A1 (P22A)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2152691	NM_000203.5(IDUA):c.86C>G (p.Pro29Arg)	IDUA, SLC26A1 (P29R)	Single nucleotide variant (missense variant +2 more)	not provided +2 more	GUncertain significance
Select item 1081249	NM_000203.5(IDUA):c.91C>T (p.Leu31=)	IDUA, SLC26A1	Single nucleotide variant (synonymous variant +2 more)	not provided +2 more	GLikely benign
Select item 1438371	NM_000203.5(IDUA):c.112C>T (p.Arg38Cys)	IDUA, SLC26A1 (R38C)	Single nucleotide variant (missense variant +2 more)	Mucopolysaccharidosis type 1 +4 more	GUncertain significance
Select item 2479206	NM_000203.5(IDUA):c.113G>T (p.Arg38Leu)	IDUA, SLC26A1 (R38L)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2432755	NM_000203.5(IDUA):c.133C>T (p.Arg45Cys)	IDUA, SLC26A1 (R45C)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GUncertain significance
Select item 2310844	NM_000203.5(IDUA):c.144G>C (p.Arg48Ser)	IDUA, SLC26A1 (R48S)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 1772915	NM_000203.5(IDUA):c.144G>T (p.Arg48Ser)	SLC26A1, IDUA (R48S)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 968667	NM_000203.5(IDUA):c.164C>T (p.Pro55Leu)	IDUA, SLC26A1 (P55L)	Single nucleotide variant (3 prime UTR variant +3 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 2166001	NM_000203.5(IDUA):c.179A>G (p.Gln60Arg)	IDUA, SLC26A1 (Q60R)	Single nucleotide variant (3 prime UTR variant +3 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 281071	NM_000203.5(IDUA):c.234C>T (p.Gly78=)	IDUA, SLC26A1	Single nucleotide variant (3 prime UTR variant +3 more)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 1049370	NM_000203.5(IDUA):c.238G>A (p.Val80Ile)	IDUA, SLC26A1 (V80I)	Single nucleotide variant (3 prime UTR variant +3 more)	Inborn genetic diseases	GUncertain significance
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 715250	NM_000203.5(IDUA):c.249C>T (p.Arg83=)	IDUA, SLC26A1	Single nucleotide variant (3 prime UTR variant +3 more)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
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 3163820	NM_022042.4(SLC26A1):c.2092G>A (p.Asp698Asn)	IDUA, SLC26A1 (D698N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2554114	NM_022042.4(SLC26A1):c.2083G>A (p.Glu695Lys)	IDUA, SLC26A1 (E695K)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1443863	NM_022042.4(SLC26A1):c.2063G>A (p.Arg688Gln)	SLC26A1, IDUA (R688Q)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 3163819	NM_022042.4(SLC26A1):c.2057C>T (p.Thr686Ile)	IDUA, SLC26A1 (T686I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2595724	NM_022042.4(SLC26A1):c.2050G>A (p.Val684Met)	IDUA, SLC26A1 (V684M)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2514024	NM_022042.4(SLC26A1):c.2009C>T (p.Thr670Met)	IDUA, SLC26A1 (T670M)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2311732	NM_022042.4(SLC26A1):c.1981G>C (p.Gly661Arg)	IDUA, SLC26A1 (G661R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3319279	NM_022042.4(SLC26A1):c.1979G>A (p.Gly660Glu)	IDUA, SLC26A1 (G660E)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3319280	NM_022042.4(SLC26A1):c.1910A>G (p.Tyr637Cys)	IDUA, SLC26A1 (Y637C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3319282	NM_022042.4(SLC26A1):c.1904G>A (p.Arg635Gln)	IDUA, SLC26A1 (R635Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2213528	NM_022042.4(SLC26A1):c.1877G>A (p.Gly626Asp)	IDUA, SLC26A1 (G626D)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3163817	NM_022042.4(SLC26A1):c.1876G>A (p.Gly626Ser)	IDUA, SLC26A1 (G626S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2542116	NM_022042.4(SLC26A1):c.1874C>T (p.Ala625Val)	IDUA, SLC26A1 (A625V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2389573	NM_022042.4(SLC26A1):c.1847G>C (p.Cys616Ser)	IDUA, SLC26A1 (C616S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3163816	NM_022042.4(SLC26A1):c.1822G>A (p.Gly608Ser)	IDUA, SLC26A1 (G608S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2390104	NM_022042.4(SLC26A1):c.1817C>T (p.Ala606Val)	IDUA, SLC26A1 (A606V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2899778	NM_022042.4(SLC26A1):c.1793C>A (p.Thr598Asn)	IDUA, SLC26A1 (T598N)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2963266	NM_022042.4(SLC26A1):c.1784C>T (p.Pro595Leu)	IDUA, SLC26A1 (P595L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2555870	NM_022042.4(SLC26A1):c.1634C>T (p.Pro545Leu)	IDUA, SLC26A1 (P545L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
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 2557836	NM_022042.4(SLC26A1):c.1621C>T (p.Arg541Cys)	IDUA, SLC26A1 (R541C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2266938	NM_022042.4(SLC26A1):c.1606G>A (p.Gly536Ser)	IDUA, SLC26A1 (G536S)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2324433	NM_022042.4(SLC26A1):c.1597C>A (p.Pro533Thr)	IDUA, SLC26A1 (P533T)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1022635	NM_022042.4(SLC26A1):c.1585G>A (p.Glu529Lys)	IDUA, SLC26A1 (E529K)	Single nucleotide variant (missense variant +1 more)	Calcium oxalate urolithiasis +2 more	GUncertain significance
Select item 2296604	NM_022042.4(SLC26A1):c.1556C>T (p.Thr519Met)	IDUA, SLC26A1 (T519M)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2294050	NM_022042.4(SLC26A1):c.1540G>A (p.Ala514Thr)	IDUA, SLC26A1 (A514T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2195667	NM_022042.4(SLC26A1):c.1519C>T (p.Arg507Cys)	IDUA, SLC26A1 (R507C)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 950147	NM_022042.4(SLC26A1):c.1519C>A (p.Arg507Ser)	IDUA, SLC26A1 (R507S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 3319285	NM_022042.4(SLC26A1):c.1510C>T (p.Arg504Cys)	IDUA, SLC26A1 (R504C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2510713	NM_022042.4(SLC26A1):c.1507G>A (p.Gly503Ser)	IDUA, SLC26A1 (G503S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2275681	NM_022042.4(SLC26A1):c.1499G>T (p.Ser500Ile)	IDUA, SLC26A1 (S500I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2529055	NM_022042.4(SLC26A1):c.1493T>C (p.Leu498Pro)	IDUA, SLC26A1 (L498P)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2511222	NM_022042.4(SLC26A1):c.1490C>T (p.Ser497Leu)	SLC26A1, IDUA (S497L)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2389036	NM_022042.4(SLC26A1):c.1433C>T (p.Ala478Val)	IDUA, SLC26A1 (A478V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2215108	NM_022042.4(SLC26A1):c.1432G>A (p.Ala478Thr)	IDUA, SLC26A1 (A478T)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 3163814	NM_022042.4(SLC26A1):c.1411G>A (p.Ala471Thr)	IDUA, SLC26A1 (A471T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2614334	NM_022042.4(SLC26A1):c.1408G>A (p.Asp470Asn)	IDUA, SLC26A1 (D470N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2395736	NM_022042.4(SLC26A1):c.1403C>T (p.Pro468Leu)	IDUA, SLC26A1 (P468L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1363882	NM_022042.4(SLC26A1):c.1394G>A (p.Arg465Gln)	IDUA, SLC26A1 (R465Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 3319281	NM_022042.4(SLC26A1):c.1393C>T (p.Arg465Trp)	IDUA, SLC26A1 (R465W)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2062973	NM_022042.4(SLC26A1):c.1364G>T (p.Arg455Leu)	IDUA, SLC26A1 (R455L)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2458562	NM_022042.4(SLC26A1):c.1306G>A (p.Asp436Asn)	IDUA, SLC26A1 (D436N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2436000	NM_022042.4(SLC26A1):c.1295C>T (p.Pro432Leu)	IDUA, SLC26A1 (P432L)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1517952	NM_022042.4(SLC26A1):c.1286C>T (p.Ala429Val)	IDUA, SLC26A1 (A429V)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 860198	NM_022042.4(SLC26A1):c.1244C>T (p.Ser415Phe)	IDUA, SLC26A1 (S415F)	Single nucleotide variant (missense variant +1 more)	Calcium oxalate urolithiasis +2 more	GUncertain significance
Select item 952663	NM_022042.4(SLC26A1):c.1232G>A (p.Arg411Gln)	IDUA, SLC26A1 (R411Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1403585	NM_022042.4(SLC26A1):c.1189G>A (p.Ala397Thr)	IDUA, SLC26A1 (A397T)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 2076584	NM_022042.4(SLC26A1):c.1171C>T (p.His391Tyr)	IDUA, SLC26A1 (H391Y)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2474054	NM_022042.4(SLC26A1):c.1147T>C (p.Cys383Arg)	IDUA, SLC26A1 (C383R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2304164	NM_022042.4(SLC26A1):c.1108T>C (p.Ser370Pro)	IDUA, SLC26A1 (S370P)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2519376	NM_022042.4(SLC26A1):c.1094G>A (p.Arg365His)	IDUA, SLC26A1 (R365H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2489341	NM_022042.4(SLC26A1):c.1087T>C (p.Phe363Leu)	IDUA, SLC26A1 (F363L)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 958982	NM_022042.4(SLC26A1):c.1060G>A (p.Ala354Thr)	IDUA, SLC26A1 (A354T)	Single nucleotide variant (missense variant +1 more)	Calcium oxalate urolithiasis +2 more	GUncertain significance
Select item 3163812	NM_022042.4(SLC26A1):c.1015C>G (p.Gln339Glu)	IDUA, SLC26A1 (Q339E)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1009266	NM_022042.4(SLC26A1):c.1004C>T (p.Pro335Leu)	SLC26A1, IDUA (P335L)	Single nucleotide variant (missense variant +1 more)	Calcium oxalate urolithiasis +2 more	GUncertain significance
Select item 2350802	NM_022042.4(SLC26A1):c.940C>T (p.Arg314Cys)	IDUA, SLC26A1 (R314C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3319283	NM_022042.4(SLC26A1):c.917C>T (p.Ser306Leu)	IDUA, SLC26A1 (S306L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2300853	NM_022042.4(SLC26A1):c.877C>T (p.Pro293Ser)	IDUA, SLC26A1 (P293S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2226751	NM_022042.4(SLC26A1):c.844G>A (p.Asp282Asn)	IDUA, SLC26A1 (D282N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2711716	NM_022042.4(SLC26A1):c.781G>A (p.Val261Met)	IDUA, SLC26A1 (V261M)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1443778	NM_022042.4(SLC26A1):c.774G>C (p.Gln258His)	IDUA, SLC26A1 (Q258H)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 2358392	NM_022042.4(SLC26A1):c.769G>A (p.Gly257Arg)	IDUA, SLC26A1 (G257R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1372519	NM_022042.4(SLC26A1):c.736G>C (p.Val246Leu)	IDUA, SLC26A1 (V246L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3163825	NM_022042.4(SLC26A1):c.727G>C (p.Gly243Arg)	IDUA, SLC26A1 (G243R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2292112	NM_022042.4(SLC26A1):c.655G>A (p.Ala219Thr)	IDUA, SLC26A1 (A219T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2352631	NM_022042.4(SLC26A1):c.650T>C (p.Met217Thr)	IDUA, SLC26A1 (M217T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3163824	NM_022042.4(SLC26A1):c.607G>A (p.Val203Met)	IDUA, SLC26A1 (V203M)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2374629	NM_022042.4(SLC26A1):c.596G>A (p.Arg199Gln)	IDUA, SLC26A1 (R199Q)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2191463	NM_022042.4(SLC26A1):c.593T>A (p.Leu198His)	IDUA, SLC26A1 (L198H)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2720835	NM_022042.4(SLC26A1):c.589G>A (p.Val197Ile)	IDUA, SLC26A1 (V197I)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1042021	NM_022042.4(SLC26A1):c.547G>A (p.Ala183Thr)	IDUA, SLC26A1 (A183T)	Single nucleotide variant (missense variant +1 more)	Calcium oxalate urolithiasis +2 more	GUncertain significance
Select item 1025054	NM_022042.4(SLC26A1):c.535C>T (p.Arg179Cys)	IDUA, SLC26A1 (R179C)	Single nucleotide variant (missense variant +1 more)	Calcium oxalate urolithiasis +3 more	GUncertain significance
Select item 1009503	NM_022042.4(SLC26A1):c.467G>A (p.Gly156Glu)	SLC26A1, IDUA (G156E)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2553454	NM_022042.4(SLC26A1):c.461A>G (p.Gln154Arg)	IDUA, SLC26A1 (Q154R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3319278	NM_022042.4(SLC26A1):c.454G>A (p.Gly152Ser)	IDUA, SLC26A1 (G152S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3163821	NM_022042.4(SLC26A1):c.445T>C (p.Ser149Pro)	IDUA, SLC26A1 (S149P)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2349152	NM_022042.4(SLC26A1):c.443C>T (p.Pro148Leu)	IDUA, SLC26A1 (P148L)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2436001	NM_022042.4(SLC26A1):c.415C>T (p.Arg139Trp)	IDUA, SLC26A1 (R139W)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 3319284	NM_022042.4(SLC26A1):c.355C>T (p.Arg119Trp)	IDUA, SLC26A1 (R119W)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2305132	NM_022042.4(SLC26A1):c.332T>C (p.Ile111Thr)	IDUA, SLC26A1 (I111T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2341120	NM_022042.4(SLC26A1):c.322G>A (p.Ala108Thr)	IDUA, SLC26A1 (A108T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1380847	NM_022042.4(SLC26A1):c.311C>T (p.Thr104Met)	IDUA, SLC26A1 (T104M)	Single nucleotide variant (missense variant +1 more)	Calcium oxalate urolithiasis +2 more	GUncertain significance
Select item 2526095	NM_022042.4(SLC26A1):c.307T>C (p.Tyr103His)	IDUA, SLC26A1 (Y103H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance

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