"Revvity Omics, Revvity"[submitter] AND "SLC26A1"[gene] - ClinVar

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Items: 46

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1323098	NM_000203.5(IDUA):c.1A>G (p.Met1Val)	IDUA, SLC26A1 (M1V)	Single nucleotide variant (missense variant +3 more)	Mucopolysaccharidosis type 1 +1 more	GPathogenic
Select item 526832	NM_000203.5(IDUA):c.11T>C (p.Leu4Pro)	IDUA, SLC26A1 (L4P)	Single nucleotide variant (missense variant +2 more)	Mucopolysaccharidosis type 1 +2 more	GConflicting classifications of pathogenicity
Select item 2432707	NM_000203.5(IDUA):c.36_56del (p.Leu13_Ala19del)	IDUA, SLC26A1	Deletion (inframe deletion +2 more)	not provided	GUncertain significance
Select item 2432705	NM_000203.5(IDUA):c.35C>T (p.Ala12Val)	IDUA, SLC26A1 (A12V)	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 (inframe deletion +2 more)	Hurler syndrome +4 more	GPathogenic
Select item 2432774	NM_000203.5(IDUA):c.50_61del (p.Leu17_Ala20del)	IDUA, SLC26A1	Deletion (inframe deletion +2 more)	not provided	GUncertain significance
Select item 2432709	NM_000203.5(IDUA):c.48G>A (p.Ser16=)	IDUA, SLC26A1	Single nucleotide variant (synonymous variant +2 more)	not provided	GUncertain significance
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 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 2432781	NM_000203.5(IDUA):c.112C>A (p.Arg38Ser)	IDUA, SLC26A1 (R38S)	Single nucleotide variant (missense variant +2 more)	not provided	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	GUncertain significance
Select item 938186	NM_000203.5(IDUA):c.141G>A (p.Trp47Ter)	IDUA, SLC26A1 (W47*)	Single nucleotide variant (nonsense +2 more)	not provided +1 more	GPathogenic
Select item 193061	NM_000203.5(IDUA):c.152G>A (p.Gly51Asp)	IDUA, SLC26A1 (G51D)	Single nucleotide variant (missense variant +2 more)	Hurler syndrome +4 more	GPathogenic
Select item 2432740	NM_000203.5(IDUA):c.157T>C (p.Cys53Arg)	IDUA, SLC26A1 (C53R)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2689242	NM_000203.5(IDUA):c.158G>C (p.Cys53Ser)	IDUA, SLC26A1 (C53S)	Single nucleotide variant (missense variant +2 more)	Mucopolysaccharidosis type 1 +1 more	GUncertain significance
Select item 1324565	NM_000203.5(IDUA):c.158+1G>C	IDUA, SLC26A1	Single nucleotide variant (intron variant +1 more)	not provided	GLikely pathogenic
Select item 92633	NM_000203.5(IDUA):c.159-19_160del	IDUA, SLC26A1	Deletion (3 prime UTR variant +2 more)	Mucopolysaccharidosis type 1 +1 more	GConflicting classifications of pathogenicity
Select item 855487	NM_000203.5(IDUA):c.164dup (p.Leu56fs)	IDUA, SLC26A1 (L56fs)	Duplication (3 prime UTR variant +3 more)	not provided +2 more	GPathogenic
Select item 968667	NM_000203.5(IDUA):c.164C>T (p.Pro55Leu)	IDUA, SLC26A1 (P55L)	Single nucleotide variant (3 prime UTR variant +3 more)	Mucopolysaccharidosis type 1 +2 more	GUncertain significance
Select item 1323095	NM_000203.5(IDUA):c.165del (p.Leu56fs)	IDUA, SLC26A1 (L56fs)	Deletion (3 prime UTR variant +3 more)	not provided	GPathogenic
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 11909	NM_000203.5(IDUA):c.208C>T (p.Gln70Ter)	IDUA, SLC26A1 (Q70*)	Single nucleotide variant (3 prime UTR variant +3 more)	Mucopolysaccharidosis +7 more	GPathogenic
Select item 1070926	NM_000203.5(IDUA):c.209del (p.Gln70fs)	IDUA, SLC26A1 (Q70fs)	Deletion (3 prime UTR variant +3 more)	Mucopolysaccharidosis type 1 +1 more	GPathogenic
Select item 2432733	NM_000203.5(IDUA):c.218A>G (p.Asn73Ser)	IDUA, SLC26A1 (N73S)	Single nucleotide variant (3 prime UTR variant +3 more)	not provided	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 1002781	NM_000203.5(IDUA):c.233G>A (p.Gly78Asp)	IDUA, SLC26A1 (G78D)	Single nucleotide variant (3 prime UTR variant +3 more)	Mucopolysaccharidosis type 1 +1 more	GUncertain significance
Select item 1458769	NM_000203.5(IDUA):c.236C>T (p.Ala79Val)	IDUA, SLC26A1 (A79V)	Single nucleotide variant (3 prime UTR variant +3 more)	Mucopolysaccharidosis type 1 +1 more	GConflicting classifications of pathogenicity
Select item 1149120	NM_000203.5(IDUA):c.240C>G (p.Val80=)	IDUA, SLC26A1	Single nucleotide variant (3 prime UTR variant +3 more)	Mucopolysaccharidosis type 1 +1 more	GConflicting classifications of pathogenicity
Select item 1897490	NM_000203.5(IDUA):c.241C>T (p.Pro81Ser)	IDUA, SLC26A1 (P81S)	Single nucleotide variant (3 prime UTR variant +3 more)	Mucopolysaccharidosis type 1 +1 more	GUncertain significance
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 839353	NM_000203.5(IDUA):c.247C>T (p.Arg83Cys)	IDUA, SLC26A1 (R83C)	Single nucleotide variant (3 prime UTR variant +3 more)	not provided +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 580286	NM_000203.5(IDUA):c.265C>T (p.Arg89Trp)	IDUA, SLC26A1 (R89W)	Single nucleotide variant (3 prime UTR variant +3 more)	Mucopolysaccharidosis type 1 +4 more	GPathogenic/Likely pathogenic
Select item 2432738	NM_000203.5(IDUA):c.268A>G (p.Thr90Ala)	IDUA, SLC26A1 (T90A)	Single nucleotide variant (3 prime UTR variant +3 more)	not provided	GUncertain significance
Select item 2058952	NM_000203.5(IDUA):c.298A>G (p.Arg100Gly)	IDUA, SLC26A1 (R100G)	Single nucleotide variant (3 prime UTR variant +3 more)	IDUA-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 1066552	NM_000203.5(IDUA):c.299_299+1delinsAT	IDUA, SLC26A1	Indel (3 prime UTR variant +2 more)	Mucopolysaccharidosis type 1 +1 more	GPathogenic/Likely pathogenic
Select item 1323093	NM_000203.5(IDUA):c.299+1G>C	IDUA, SLC26A1	Single nucleotide variant (3 prime UTR variant +2 more)	not provided +1 more	GPathogenic
Select item 64588	NM_022042.4(SLC26A1):c.1906G>T (p.Asp636Tyr)	IDUA, SLC26A1 (D636Y)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1000516	NM_022042.4(SLC26A1):c.1382C>T (p.Pro461Leu)	SLC26A1, IDUA (P461L)	Single nucleotide variant (missense variant +1 more)	not provided	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 2435999	NM_022042.4(SLC26A1):c.1051G>A (p.Val351Met)	IDUA, SLC26A1 (V351M)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2436001	NM_022042.4(SLC26A1):c.415C>T (p.Arg139Trp)	IDUA, SLC26A1 (R139W)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	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 1979983	NM_022042.4(SLC26A1):c.213C>A (p.Gly71=)	IDUA, SLC26A1	Single nucleotide variant (synonymous variant +1 more)	not provided	GConflicting classifications of pathogenicity
Select item 1136337	NM_022042.4(SLC26A1):c.153G>C (p.Gln51His)	IDUA, SLC26A1 (Q51H)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity

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Items: 46