"Martin Pollak Laboratory, Beth Israel Deaconess Medical Center"[submi - ClinVar - NCBI

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Items: 18

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 64576	NM_000203.4(IDUA):c.199A>T (p.Ser67Cys)	IDUA, SLC26A1 (S67C)	Single nucleotide variant (3 prime UTR variant +3 more)	Mucopolysaccharidosis type 1 +1 more	GUncertain significance
Select item 64588	NM_022042.4(SLC26A1):c.1906G>T (p.Asp636Tyr)	IDUA, SLC26A1 (D636Y)	Single nucleotide variant (missense variant +1 more)	Calcium oxalate urolithiasis +1 more	GConflicting classifications of pathogenicity
Select item 64587	NM_000203.5(IDUA):c.299+1104G>A	IDUA, SLC26A1 (T629M)	Single nucleotide variant (missense variant +1 more)	Hurler syndrome	GLikely benign
Select item 64586	NM_000203.5(IDUA):c.299+1279C>T	IDUA, SLC26A1 (A571T)	Single nucleotide variant (missense variant +1 more)	Hurler syndrome	GLikely benign
Select item 64585	NM_022042.4(SLC26A1):c.1685C>T (p.Thr562Met)	IDUA, SLC26A1 (T562M)	Single nucleotide variant (missense variant +1 more)	Calcium oxalate urolithiasis +1 more	GUncertain significance
Select item 64584	NM_022042.4(SLC26A1):c.1633C>T (p.Pro545Ser)	IDUA, SLC26A1 (P545S)	Single nucleotide variant (missense variant +1 more)	not provided	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 64582	NM_022042.4(SLC26A1):c.1509C>T (p.Gly503=)	IDUA, SLC26A1	Single nucleotide variant (synonymous variant +1 more)	not provided	GUncertain significance
Select item 64581	NM_022042.4(SLC26A1):c.1459G>A (p.Glu487Lys)	IDUA, SLC26A1 (E487K)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 64580	NM_000203.5(IDUA):c.299+1542A>T	IDUA, SLC26A1 (L483Q)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 64579	NM_022042.4(SLC26A1):c.1406C>T (p.Ala469Val)	IDUA, SLC26A1 (A469V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 64578	NM_000203.5(IDUA):c.299+1627G>A	IDUA, SLC26A1 (R455C)	Single nucleotide variant (missense variant +1 more)	Hurler syndrome	GLikely benign
Select item 64577	NM_022042.4(SLC26A1):c.1043T>C (p.Leu348Pro)	IDUA, SLC26A1 (L348P)	Single nucleotide variant (missense variant +1 more)	Calcium oxalate urolithiasis +1 more	GLikely benign
Select item 64593	NM_022042.4(SLC26A1):c.760C>T (p.Arg254Cys)	IDUA, SLC26A1 (R254C)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 64592	NM_022042.4(SLC26A1):c.731T>C (p.Met244Thr)	IDUA, SLC26A1 (M244T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 64591	NM_000203.5(IDUA):c.299+3322C>T	IDUA, SLC26A1 (G145S)	Single nucleotide variant (missense variant +1 more)	Hurler syndrome	GLikely benign
Select item 64590	NM_000203.5(IDUA):c.299+3399C>T	IDUA, SLC26A1 (R119Q)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 64589	NM_022042.4(SLC26A1):c.226G>A (p.Gly76Arg)	IDUA, SLC26A1 (G76R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance