ClinVar for MedGen (Select 78631) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3255580	NM_000111.3(SLC26A3):c.1262del (p.Val421fs)	SLC26A3 (V421fs)	Deletion (frameshift variant)	Congenital secretory diarrhea, chloride type	GLikely pathogenic
Select item 3242407	NM_000111.3(SLC26A3):c.202C>T (p.Arg68Trp)	SLC26A3 (R68W)	Single nucleotide variant (missense variant)	Congenital secretory diarrhea, chloride type	GUncertain significance
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 2735075	NM_000111.3(SLC26A3):c.735+4_735+7del	SLC26A3	Microsatellite (splice donor variant)	Congenital secretory diarrhea, chloride type +1 more	GPathogenic
Select item 2572400	NM_000111.3(SLC26A3):c.1511A>C (p.Gln504Pro)	SLC26A3 (Q504P)	Single nucleotide variant (missense variant)	Congenital secretory diarrhea, chloride type	GUncertain significance
Select item 2506951	NM_000111.3(SLC26A3):c.1679T>A (p.Val560Asp)	SLC26A3 (V560D)	Single nucleotide variant (missense variant)	Congenital secretory diarrhea, chloride type	GPathogenic
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 2431459	NM_000111.3(SLC26A3):c.1120G>C (p.Glu374Gln)	SLC26A3 (E374Q)	Single nucleotide variant (missense variant)	Congenital secretory diarrhea, chloride type	GUncertain significance
Select item 1922307	NM_000111.3(SLC26A3):c.842G>A (p.Arg281His)	SLC26A3 (R281H)	Single nucleotide variant (missense variant)	Congenital secretory diarrhea, chloride type +1 more	GUncertain significance
Select item 1803226	NM_000111.3(SLC26A3):c.1514+1G>A	SLC26A3	Single nucleotide variant (splice donor variant)	Congenital secretory diarrhea, chloride type +1 more	GPathogenic
Select item 1444249	NM_004963.4(GUCY2C):c.2384G>A (p.Arg795Lys)	GUCY2C (R795K)	Single nucleotide variant (missense variant)	Congenital secretory diarrhea, chloride type +1 more	GConflicting classifications of pathogenicity
Select item 1320137	NM_000111.3(SLC26A3):c.1307A>G (p.Gln436Arg)	SLC26A3 (Q436R)	Single nucleotide variant (missense variant)	Congenital secretory diarrhea, chloride type	GLikely pathogenic
Select item 1071195	NM_000111.3(SLC26A3):c.614del (p.Leu205fs)	SLC26A3 (L205fs)	Deletion (frameshift variant)	Congenital secretory diarrhea, chloride type +2 more	GPathogenic
Select item 912260	NM_000111.3(SLC26A3):c.1865C>T (p.Thr622Ile)	SLC26A3 (T622I)	Single nucleotide variant (missense variant)	Congenital secretory diarrhea, chloride type +1 more	GUncertain significance
Select item 912259	NM_000111.3(SLC26A3):c.1916T>A (p.Ile639Asn)	SLC26A3 (I639N)	Single nucleotide variant (missense variant)	Congenital secretory diarrhea, chloride type	GUncertain significance
Select item 912258	NM_000111.3(SLC26A3):c.2013G>C (p.Leu671Phe)	SLC26A3 (L671F)	Single nucleotide variant (missense variant)	Congenital secretory diarrhea, chloride type	GUncertain significance
Select item 911311	NM_000111.3(SLC26A3):c.404T>C (p.Met135Thr)	SLC26A3 (M135T)	Single nucleotide variant (missense variant)	Congenital secretory diarrhea, chloride type	GUncertain significance
Select item 911310	NM_000111.3(SLC26A3):c.455G>A (p.Arg152His)	SLC26A3 (R152H)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 911309	NM_000111.3(SLC26A3):c.529G>A (p.Ala177Thr)	SLC26A3 (A177T)	Single nucleotide variant (missense variant)	Congenital secretory diarrhea, chloride type +1 more	GUncertain significance
Select item 911308	NM_000111.3(SLC26A3):c.623C>A (p.Ser208Tyr)	SLC26A3 (S208Y)	Single nucleotide variant (missense variant)	Congenital secretory diarrhea, chloride type	GUncertain significance
Select item 911076	NM_000111.3(SLC26A3):c.736-9T>C	SLC26A3	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 911075	NM_000111.3(SLC26A3):c.888+5T>C	SLC26A3	Single nucleotide variant (intron variant)	Congenital secretory diarrhea, chloride type	GUncertain significance
Select item 911074	NM_000111.3(SLC26A3):c.915C>T (p.Tyr305=)	SLC26A3	Single nucleotide variant (synonymous variant)	SLC26A3-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 911014	NM_000111.3(SLC26A3):c.*113T>C	SLC26A3	Single nucleotide variant (3 prime UTR variant)	Congenital secretory diarrhea, chloride type	GLikely benign
Select item 911013	NM_000111.3(SLC26A3):c.*227A>G	SLC26A3	Single nucleotide variant (3 prime UTR variant)	Congenital secretory diarrhea, chloride type	GUncertain significance
Select item 910200	NM_000111.3(SLC26A3):c.972-14A>C	SLC26A3	Single nucleotide variant (intron variant)	Congenital secretory diarrhea, chloride type +1 more	GBenign/Likely benign
Select item 910199	NM_000111.3(SLC26A3):c.1232A>T (p.Gln411Leu)	SLC26A3 (Q411L)	Single nucleotide variant (missense variant)	Congenital secretory diarrhea, chloride type	GUncertain significance
Select item 910198	NM_000111.3(SLC26A3):c.1234-9T>A	SLC26A3	Single nucleotide variant (intron variant)	SLC26A3-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 909172	NM_000111.3(SLC26A3):c.-169C>T	SLC26A3	Single nucleotide variant (5 prime UTR variant)	Congenital secretory diarrhea, chloride type	GUncertain significance
Select item 909171	NM_000111.3(SLC26A3):c.-90A>G	SLC26A3	Single nucleotide variant (5 prime UTR variant)	Congenital secretory diarrhea, chloride type	GUncertain significance
Select item 909170	NM_000111.3(SLC26A3):c.-89+12A>G	SLC26A3	Single nucleotide variant (intron variant)	Congenital secretory diarrhea, chloride type	GUncertain significance
Select item 909169	NM_000111.3(SLC26A3):c.58G>A (p.Ala20Thr)	SLC26A3 (A20T)	Single nucleotide variant (missense variant)	Congenital secretory diarrhea, chloride type	GUncertain significance
Select item 908326	NM_000111.3(SLC26A3):c.261C>A (p.Ala87=)	SLC26A3	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 908325	NM_000111.3(SLC26A3):c.295G>A (p.Asp99Asn)	SLC26A3 (D99N)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 908259	NM_000111.3(SLC26A3):c.1388G>A (p.Arg463Gln)	SLC26A3 (R463Q)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 908258	NM_000111.3(SLC26A3):c.1482T>C (p.Phe494=)	SLC26A3	Single nucleotide variant (synonymous variant)	Congenital secretory diarrhea, chloride type	GUncertain significance
Select item 908257	NM_000111.3(SLC26A3):c.1661G>A (p.Arg554Gln)	SLC26A3 (R554Q)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 804405	NM_000111.3(SLC26A3):c.1652del (p.Phe551fs)	SLC26A3 (F551fs)	Deletion (frameshift variant)	Congenital secretory diarrhea, chloride type	GLikely pathogenic
Select item 802343	NM_000111.3(SLC26A3):c.1696C>T (p.Arg566Ter)	SLC26A3 (R566*)	Single nucleotide variant (nonsense)	Congenital secretory diarrhea, chloride type +1 more	GPathogenic
Select item 789518	NM_000111.3(SLC26A3):c.1314C>T (p.Ser438=)	SLC26A3	Single nucleotide variant (synonymous variant)	Congenital secretory diarrhea, chloride type +2 more	GBenign/Likely benign
Select item 782026	NM_000111.3(SLC26A3):c.1802T>C (p.Ile601Thr)	SLC26A3 (I601T)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 776252	NM_000111.3(SLC26A3):c.357C>T (p.Phe119=)	SLC26A3	Single nucleotide variant (synonymous variant)	Congenital secretory diarrhea, chloride type +1 more	GBenign
Select item 773217	NM_000111.3(SLC26A3):c.378C>T (p.Ser126=)	SLC26A3	Single nucleotide variant (synonymous variant)	Congenital secretory diarrhea, chloride type +1 more	GBenign/Likely benign
Select item 718251	NM_000111.3(SLC26A3):c.2169G>C (p.Lys723Asn)	SLC26A3 (K723N)	Single nucleotide variant (missense variant)	SLC26A3-related disorder +2 more	GLikely benign
Select item 711005	NM_000111.3(SLC26A3):c.1273G>A (p.Val425Ile)	SLC26A3 (V425I)	Single nucleotide variant (missense variant)	SLC26A3-related disorder +2 more	GLikely benign
Select item 635425	NM_000111.3(SLC26A3):c.1082A>G (p.Tyr361Cys)	SLC26A3 (Y361C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 378598	NM_000111.3(SLC26A3):c.357C>A (p.Phe119Leu)	SLC26A3 (F119L)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 358562	NM_000111.3(SLC26A3):c.-88-9T>G	SLC26A3	Single nucleotide variant (intron variant)	Congenital secretory diarrhea, chloride type	GUncertain significance
Select item 358561	NM_000111.3(SLC26A3):c.-40C>T	SLC26A3	Single nucleotide variant (5 prime UTR variant)	Congenital secretory diarrhea, chloride type	GUncertain significance
Select item 358560	NM_000111.3(SLC26A3):c.203G>A (p.Arg68Gln)	SLC26A3 (R68Q)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 358559	NM_000111.3(SLC26A3):c.241A>G (p.Ile81Val)	SLC26A3 (I81V)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 358558	NM_000111.3(SLC26A3):c.271+7T>A	SLC26A3	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 358557	NM_000111.3(SLC26A3):c.510T>G (p.Asp170Glu)	SLC26A3 (D170E)	Single nucleotide variant (missense variant)	Congenital secretory diarrhea, chloride type	GUncertain significance
Select item 358556	NM_000111.3(SLC26A3):c.570+8C>T	SLC26A3	Single nucleotide variant (intron variant)	Congenital secretory diarrhea, chloride type	GUncertain significance
Select item 358555	NM_000111.3(SLC26A3):c.571-9T>C	SLC26A3	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 358554	NM_000111.3(SLC26A3):c.590G>A (p.Arg197Gln)	SLC26A3 (R197Q)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 358553	NM_000111.3(SLC26A3):c.711C>G (p.His237Gln)	SLC26A3 (H237Q)	Single nucleotide variant (missense variant)	Congenital secretory diarrhea, chloride type +2 more	GConflicting classifications of pathogenicity
Select item 358552	NM_000111.3(SLC26A3):c.738A>G (p.Val246=)	SLC26A3	Single nucleotide variant (synonymous variant)	Congenital secretory diarrhea, chloride type	GUncertain significance
Select item 358551	NM_000111.3(SLC26A3):c.741A>G (p.Leu247=)	SLC26A3	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 358550	NM_000111.3(SLC26A3):c.889-6T>C	SLC26A3	Single nucleotide variant (intron variant)	Congenital secretory diarrhea, chloride type +2 more	GBenign/Likely benign
Select item 358549	NM_000111.3(SLC26A3):c.891C>T (p.Thr297=)	SLC26A3	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 358548	NM_000111.3(SLC26A3):c.921T>G (p.Cys307Trp)	SLC26A3 (C307W)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 358547	NM_000111.3(SLC26A3):c.996C>T (p.Asp332=)	SLC26A3	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 358546	NM_000111.3(SLC26A3):c.1234-17dup	SLC26A3	Duplication (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 358545	NM_000111.3(SLC26A3):c.1299G>A (p.Ala433=)	SLC26A3	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 358544	NM_000111.3(SLC26A3):c.1402G>A (p.Asp468Asn)	SLC26A3 (D468N)	Single nucleotide variant (missense variant)	Congenital secretory diarrhea, chloride type	GUncertain significance
Select item 358543	NM_000111.3(SLC26A3):c.1529C>T (p.Thr510Met)	SLC26A3 (T510M)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 358542	NM_000111.3(SLC26A3):c.1675G>C (p.Ala559Pro)	SLC26A3 (A559P)	Single nucleotide variant (missense variant)	Congenital secretory diarrhea, chloride type	GUncertain significance
Select item 358541	NM_000111.3(SLC26A3):c.1677+10G>A	SLC26A3	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 358540	NM_000111.3(SLC26A3):c.1744C>G (p.Gln582Glu)	SLC26A3 (Q582E)	Single nucleotide variant (missense variant)	Congenital secretory diarrhea, chloride type +1 more	GUncertain significance
Select item 358539	NM_000111.3(SLC26A3):c.1786T>G (p.Cys596Gly)	SLC26A3 (C596G)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 358538	NM_000111.3(SLC26A3):c.1953T>C (p.Leu651=)	SLC26A3	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 358537	NM_000111.3(SLC26A3):c.2092G>C (p.Glu698Gln)	SLC26A3 (E698Q)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 358536	NM_000111.3(SLC26A3):c.2155C>T (p.His719Tyr)	SLC26A3 (H719Y)	Single nucleotide variant (missense variant)	Congenital secretory diarrhea, chloride type	GUncertain significance
Select item 358535	NM_000111.3(SLC26A3):c.2258A>G (p.Asn753Ser)	SLC26A3 (N753S)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 358534	NM_000111.3(SLC26A3):c.2272-3del	SLC26A3	Deletion (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 358533	NM_000111.3(SLC26A3):c.*130C>T	SLC26A3	Single nucleotide variant (3 prime UTR variant)	Congenital secretory diarrhea, chloride type	GUncertain significance
Select item 358532	NM_000111.3(SLC26A3):c.*196T>C	SLC26A3	Single nucleotide variant (3 prime UTR variant)	Congenital secretory diarrhea, chloride type	GUncertain significance
Select item 358531	NM_000111.3(SLC26A3):c.*205G>C	SLC26A3	Single nucleotide variant (3 prime UTR variant)	Congenital secretory diarrhea, chloride type	GUncertain significance
Select item 358530	NM_000111.3(SLC26A3):c.*386G>A	SLC26A3	Single nucleotide variant (3 prime UTR variant)	Congenital secretory diarrhea, chloride type	GBenign
Select item 56009	NM_000111.3(SLC26A3):c.915C>A (p.Tyr305Ter)	SLC26A3 (Y305*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
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 56005	NM_000111.3(SLC26A3):c.571-2A>G	SLC26A3	Single nucleotide variant (splice acceptor variant)	SLC26A3-related disorder +1 more	GPathogenic/Likely pathogenic
Select item 56004	NM_000111.3(SLC26A3):c.571-1G>T	SLC26A3	Single nucleotide variant (splice acceptor variant)	Congenital secretory diarrhea, chloride type +1 more	GPathogenic
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 56000	NM_000111.3(SLC26A3):c.392C>T (p.Pro131Leu)	SLC26A3 (P131L)	Single nucleotide variant (missense variant)	Congenital secretory diarrhea, chloride type +1 more	GPathogenic
Select item 55999	NM_000111.3(SLC26A3):c.392C>G (p.Pro131Arg)	SLC26A3 (P131R)	Single nucleotide variant (missense variant)	Congenital secretory diarrhea, chloride type +1 more	GConflicting classifications of pathogenicity
Select item 55998	NM_000111.3(SLC26A3):c.386C>T (p.Pro129Leu)	SLC26A3 (P129L)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 55997	NM_000111.3(SLC26A3):c.358G>A (p.Gly120Ser)	SLC26A3 (G120S)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 55996	NM_000111.3(SLC26A3):c.344del (p.Ile115fs)	SLC26A3 (I115fs)	Deletion (frameshift variant)	not provided	GPathogenic
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 55994	NM_000111.3(SLC26A3):c.269_270dup (p.Gly91fs)	SLC26A3 (G91fs)	Duplication (frameshift variant)	Polyhydramnios +3 more	GPathogenic
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

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