Related gene-specific medical variations for Gene (Select 1811) - ClinVar

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Items: 35

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3245842	NC_000007.13:g.(?_107432255)_(107434954_?)del	SLC26A3	Deletion	not provided	GPathogenic
Select item 3245841	NC_000007.13:g.(?_107408191)_(107408373_?)del	SLC26A3	Deletion	not provided	GPathogenic
Select item 3238860	NM_000111.3(SLC26A3):c.670del (p.Ser224fs)	SLC26A3 (S224fs)	Deletion (frameshift variant)	Congenital secretory diarrhea, chloride type	GLikely pathogenic
Select item 2436005	NM_000111.3(SLC26A3):c.1728G>C (p.Arg576Ser)	SLC26A3 (R576S)	Single nucleotide variant (missense variant)	Congenital secretory diarrhea, chloride type	GUncertain significance
Select item 1287017	NM_000111.3(SLC26A3):c.1312-146G>A	LOC111591504, SLC26A3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 810173	NM_000111.3(SLC26A3):c.1385G>A (p.Trp462Ter)	SLC26A3 (W462*)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 801008	Single allele	SLC26A3	Insertion	not provided	GLikely pathogenic
Select item 56008	NM_000111.3(SLC26A3):c.659A>C (p.His220Pro)	SLC26A3 (H220P)	Single nucleotide variant (missense variant)	Congenital secretory diarrhea, chloride type	GLikely pathogenic
Select item 56007	NM_000111.3(SLC26A3):c.616T>C (p.Ser206Pro)	SLC26A3 (S206P)	Single nucleotide variant (missense variant)	Congenital secretory diarrhea, chloride type	GLikely pathogenic
Select item 56006	NM_000111.3(SLC26A3):c.610T>G (p.Tyr204Asp)	SLC26A3 (Y204D)	Single nucleotide variant (missense variant)	Congenital secretory diarrhea, chloride type	GLikely pathogenic
Select item 56003	NM_000111.3(SLC26A3):c.525G>C (p.Arg175Ser)	SLC26A3 (R175S)	Single nucleotide variant (missense variant)	Congenital secretory diarrhea, chloride type	GLikely pathogenic
Select item 56002	NM_000111.3(SLC26A3):c.408G>A (p.Met136Ile)	SLC26A3 (M136I)	Single nucleotide variant (missense variant)	Congenital secretory diarrhea, chloride type	GLikely pathogenic
Select item 56001	NM_000111.3(SLC26A3):c.392del (p.Pro131fs)	SLC26A3 (P131fs)	Deletion (frameshift variant)	Congenital secretory diarrhea, chloride type	GLikely pathogenic
Select item 55995	NM_000111.3(SLC26A3):c.332del (p.Phe111fs)	SLC26A3 (F111fs)	Deletion (frameshift variant)	Congenital secretory diarrhea, chloride type	GLikely pathogenic
Select item 55993	NM_000111.3(SLC26A3):c.2205+3A>G	SLC26A3	Single nucleotide variant (intron variant)	Congenital secretory diarrhea, chloride type	GLikely pathogenic
Select item 55992	NM_000111.3(SLC26A3):c.2132T>G (p.Leu711Ter)	SLC26A3 (L711*)	Single nucleotide variant (nonsense)	Congenital secretory diarrhea, chloride type	GLikely pathogenic
Select item 55991	NM_000111.3(SLC26A3):c.2116del (p.Ser706fs)	SLC26A3 (S706fs)	Deletion (frameshift variant)	Congenital secretory diarrhea, chloride type	GLikely pathogenic
Select item 55990	NM_000111.3(SLC26A3):c.2104_2105delinsACCGGTTTTGAAGTGAAAATTCAAAATTT (p.Gly702delinsThrGlyPheGluValLysIleGlnAsnPhe)	SLC26A3	Indel (inframe_indel)	Congenital secretory diarrhea, chloride type	GLikely pathogenic
Select item 55987	NM_000111.3(SLC26A3):c.1990del (p.Ser663_Val664insTer)	SLC26A3	Deletion (nonsense)	Congenital secretory diarrhea, chloride type	GLikely pathogenic
Select item 55984	NM_000111.3(SLC26A3):c.1624_1626delinsC (p.Ser542fs)	SLC26A3 (S542fs)	Indel (frameshift variant)	Congenital secretory diarrhea, chloride type	GLikely pathogenic
Select item 55981	NM_000111.3(SLC26A3):c.1563G>C (p.Lys521Asn)	SLC26A3 (K521N)	Single nucleotide variant (missense variant)	Congenital secretory diarrhea, chloride type	GLikely pathogenic
Select item 55980	NM_000111.3(SLC26A3):c.1559A>G (p.Tyr520Cys)	SLC26A3 (Y520C)	Single nucleotide variant (missense variant)	Congenital secretory diarrhea, chloride type	GLikely pathogenic
Select item 55979	NM_000111.3(SLC26A3):c.1551_1554del (p.Asn518fs)	SLC26A3 (N518fs)	Deletion (frameshift variant)	Congenital secretory diarrhea, chloride type	GLikely pathogenic
Select item 55978	NM_000111.3(SLC26A3):c.1526_1527del (p.Ser509fs)	SLC26A3 (S509fs)	Deletion (frameshift variant)	Congenital secretory diarrhea, chloride type	GLikely pathogenic
Select item 55977	NM_000111.3(SLC26A3):c.1517del (p.Pro506fs)	SLC26A3 (P506fs)	Deletion (frameshift variant)	Congenital secretory diarrhea, chloride type	GLikely pathogenic
Select item 55976	NM_000111.3(SLC26A3):c.1515-2del	SLC26A3	Deletion (splice acceptor variant)	Congenital secretory diarrhea, chloride type	GLikely pathogenic
Select item 55975	NM_000111.3(SLC26A3):c.1487T>G (p.Leu496Arg)	SLC26A3 (L496R)	Single nucleotide variant (missense variant)	Congenital secretory diarrhea, chloride type	GLikely pathogenic
Select item 55973	NM_000111.3(SLC26A3):c.1408-1G>A	SLC26A3	Single nucleotide variant (splice acceptor variant)	Congenital secretory diarrhea, chloride type	GLikely pathogenic
Select item 55972	NM_000111.3(SLC26A3):c.1403A>T (p.Asp468Val)	SLC26A3 (D468V)	Single nucleotide variant (missense variant)	Congenital secretory diarrhea, chloride type	GLikely pathogenic
Select item 55970	NM_000111.3(SLC26A3):c.1362del (p.Gln454fs)	SLC26A3 (Q454fs)	Deletion (frameshift variant)	Congenital secretory diarrhea, chloride type	GLikely pathogenic
Select item 55969	NM_000111.3(SLC26A3):c.1360C>T (p.Gln454Ter)	SLC26A3 (Q454*)	Single nucleotide variant (nonsense)	Congenital secretory diarrhea, chloride type	GLikely pathogenic
Select item 55968	NM_000111.3(SLC26A3):c.1342_1343del (p.Leu448fs)	SLC26A3 (L448fs)	Deletion (frameshift variant)	Congenital secretory diarrhea, chloride type	GLikely pathogenic
Select item 55967	NM_000111.3(SLC26A3):c.1312-1G>A	SLC26A3	Single nucleotide variant (splice acceptor variant)	Congenital secretory diarrhea, chloride type	GLikely pathogenic
Select item 55963	NM_000111.3(SLC26A3):c.1030_1047delinsGATGCC (p.Phe344_Val349delinsAspAla)	SLC26A3	Indel (inframe_indel)	Congenital secretory diarrhea, chloride type	GLikely pathogenic
Select item 55962	NM_000111.3(SLC26A3):c.1028G>A (p.Cys343Tyr)	SLC26A3 (C343Y)	Single nucleotide variant (missense variant)	Congenital secretory diarrhea, chloride type	GLikely pathogenic

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Items: 35