SLC26A3[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146075	GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1	CCDC146, CCDC201 +4735 more	Copy number loss	See cases	GPathogenic
Select item 147547	GRCh38/hg38 7q21.3-36.3(chr7:97419852-158923762)x3	LOC129998995, LOC129998996 +2212 more	Copy number gain	See cases	GPathogenic
Select item 57255	GRCh38/hg38 7q22.1-31.1(chr7:101807149-112414850)x1	ALKBH4, ARMC10 +292 more	Copy number loss	See cases	GPathogenic
Select item 148448	GRCh38/hg38 7q22.1-31.31(chr7:102196924-121278641)x1	ALKBH4, ANKRD7 +474 more	Copy number loss	See cases	GPathogenic
Select item 154561	GRCh38/hg38 7q22.3-31.1(chr7:105575647-107949294)x1	ATXN7L1, BCAP29 +104 more	Copy number loss	See cases	GUncertain significance
Select item 60284	GRCh38/hg38 7q22.3-31.1(chr7:106261939-111228036)x1	DUS4L, DUS4L-BCAP29 +92 more	Copy number loss	See cases	GPathogenic
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 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 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 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 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 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 2794462	NM_000111.3(SLC26A3):c.2289A>G (p.Lys763=)	SLC26A3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2057495	NM_000111.3(SLC26A3):c.2279T>G (p.Val760Gly)	SLC26A3 (V760G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1393500	NM_000111.3(SLC26A3):c.2276C>T (p.Pro759Leu)	SLC26A3 (P759L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1020901	NM_000111.3(SLC26A3):c.2275C>T (p.Pro759Ser)	SLC26A3 (P759S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2839902	NM_000111.3(SLC26A3):c.2274G>T (p.Val758=)	SLC26A3	Single nucleotide variant (synonymous variant)	not provided	GLikely 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 2783776	NM_000111.3(SLC26A3):c.2272-4C>T	SLC26A3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2973823	NM_000111.3(SLC26A3):c.2272-12_2272-9del	SLC26A3	Deletion (intron variant)	not provided	GLikely benign
Select item 1907449	NM_000111.3(SLC26A3):c.2272-14_2272-13del	SLC26A3	Deletion (intron variant)	not provided	GLikely benign
Select item 2011177	NM_000111.3(SLC26A3):c.2272-19A>G	SLC26A3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2743338	NM_000111.3(SLC26A3):c.2271+19T>C	SLC26A3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2826505	NM_000111.3(SLC26A3):c.2271+17G>C	SLC26A3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2803109	NM_000111.3(SLC26A3):c.2271+14A>G	SLC26A3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2976605	NM_000111.3(SLC26A3):c.2271+13A>C	SLC26A3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1391610	NM_000111.3(SLC26A3):c.2260C>T (p.Arg754Trp)	SLC26A3 (R754W)	Single nucleotide variant (missense variant)	not provided	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 1439996	NM_000111.3(SLC26A3):c.2255G>A (p.Arg752His)	SLC26A3 (R752H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2195245	NM_000111.3(SLC26A3):c.2254C>T (p.Arg752Cys)	SLC26A3 (R752C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1963741	NM_000111.3(SLC26A3):c.2248G>A (p.Gly750Arg)	SLC26A3 (G750R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1490634	NM_000111.3(SLC26A3):c.2231C>T (p.Thr744Ile)	SLC26A3 (T744I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3008144	NM_000111.3(SLC26A3):c.2229T>C (p.Phe743=)	SLC26A3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1356574	NM_000111.3(SLC26A3):c.2222T>C (p.Ile741Thr)	SLC26A3 (I741T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1312770	NM_000111.3(SLC26A3):c.2211del (p.Asp738fs)	SLC26A3 (D738fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 2983807	NM_000111.3(SLC26A3):c.2206-2A>G	SLC26A3	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 2058252	NM_000111.3(SLC26A3):c.2206-8T>C	SLC26A3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2881990	NM_000111.3(SLC26A3):c.2206-9T>C	SLC26A3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2705543	NM_000111.3(SLC26A3):c.2206-11C>G	SLC26A3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2787164	NM_000111.3(SLC26A3):c.2206-15T>C	SLC26A3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2872840	NM_000111.3(SLC26A3):c.2206-20T>C	SLC26A3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2810849	NM_000111.3(SLC26A3):c.2205+12T>C	SLC26A3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2829935	NM_000111.3(SLC26A3):c.2205+11T>C	SLC26A3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2986447	NM_000111.3(SLC26A3):c.2205+10C>T	SLC26A3	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 1461129	NM_000111.3(SLC26A3):c.2193T>C (p.Phe731=)	SLC26A3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2414668	NM_000111.3(SLC26A3):c.2190G>C (p.Lys730Asn)	SLC26A3 (K730N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2772425	NM_000111.3(SLC26A3):c.2184T>A (p.Thr728=)	SLC26A3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1580910	NM_000111.3(SLC26A3):c.2184T>G (p.Thr728=)	SLC26A3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1967365	NM_000111.3(SLC26A3):c.2176T>A (p.Tyr726Asn)	SLC26A3 (Y726N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2781410	NM_000111.3(SLC26A3):c.2175T>C (p.Asp725=)	SLC26A3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1469586	NM_000111.3(SLC26A3):c.2169G>T (p.Lys723Asn)	SLC26A3 (K723N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 718251	NM_000111.3(SLC26A3):c.2169G>C (p.Lys723Asn)	SLC26A3 (K723N)	Single nucleotide variant (missense variant)	not provided +2 more	GLikely benign
Select item 1899777	NM_000111.3(SLC26A3):c.2168A>T (p.Lys723Met)	SLC26A3 (K723M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 2797438	NM_000111.3(SLC26A3):c.2145T>C (p.Asp715=)	SLC26A3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1962004	NM_000111.3(SLC26A3):c.2143G>A (p.Asp715Asn)	SLC26A3 (D715N)	Single nucleotide variant (missense variant)	not provided	GPathogenic
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 1431827	NM_000111.3(SLC26A3):c.2120C>T (p.Ser707Leu)	SLC26A3 (S707L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2901778	NM_000111.3(SLC26A3):c.2116dup (p.Ser706fs)	SLC26A3 (S706fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 1372656	NM_000111.3(SLC26A3):c.2117G>A (p.Ser706Asn)	SLC26A3 (S706N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 2777383	NM_000111.3(SLC26A3):c.2112G>T (p.Val704=)	SLC26A3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1462659	NM_000111.3(SLC26A3):c.2110G>A (p.Val704Met)	SLC26A3 (V704M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 2969547	NM_000111.3(SLC26A3):c.2100T>C (p.Phe700=)	SLC26A3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1475094	NM_000111.3(SLC26A3):c.2099T>C (p.Phe700Ser)	SLC26A3 (F700S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2745038	NM_000111.3(SLC26A3):c.2092G>T (p.Glu698Ter)	SLC26A3 (E698*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
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 2714360	NM_000111.3(SLC26A3):c.2076G>A (p.Glu692=)	SLC26A3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 55989	NM_000111.3(SLC26A3):c.2063-1G>T	SLC26A3	Single nucleotide variant (splice acceptor variant)	Congenital secretory diarrhea, chloride type +1 more	GPathogenic
Select item 1385709	NM_000111.3(SLC26A3):c.2063-4_2063-3delinsAA	SLC26A3	Indel (intron variant)	not provided	GUncertain significance
Select item 2796467	NM_000111.3(SLC26A3):c.2063-4T>C	SLC26A3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1978149	NM_000111.3(SLC26A3):c.2063-5T>C	SLC26A3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2960182	NM_000111.3(SLC26A3):c.2063-9dup	SLC26A3	Duplication (intron variant)	not provided	GBenign
Select item 2093172	NM_000111.3(SLC26A3):c.2063-10_2063-9dup	SLC26A3	Duplication (intron variant)	not provided	GBenign
Select item 2970206	NM_000111.3(SLC26A3):c.2063-9T>C	SLC26A3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2971657	NM_000111.3(SLC26A3):c.2063-10T>C	SLC26A3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2976006	NM_000111.3(SLC26A3):c.2063-15T>C	SLC26A3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2992071	NM_000111.3(SLC26A3):c.2063-18_2063-17del	SLC26A3	Deletion (intron variant)	not provided	GLikely benign
Select item 2983993	NM_000111.3(SLC26A3):c.2063-17T>C	SLC26A3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1706993	NM_000111.3(SLC26A3):c.2063-21T>G	SLC26A3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1281484	NM_000111.3(SLC26A3):c.2062+174A>T	SLC26A3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1939678	NM_000111.3(SLC26A3):c.2062+19_2062+23del	SLC26A3	Deletion (intron variant)	not provided	GLikely benign
Select item 2847815	NM_000111.3(SLC26A3):c.2062+18dup	SLC26A3	Duplication (intron variant)	not provided	GBenign
Select item 1626959	NM_000111.3(SLC26A3):c.2062+13_2062+16del	SLC26A3	Deletion (intron variant)	not provided	GLikely benign
Select item 2768379	NM_000111.3(SLC26A3):c.2062+12T>C	SLC26A3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2858045	NM_000111.3(SLC26A3):c.2062+8G>A	SLC26A3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1587442	NM_000111.3(SLC26A3):c.2062G>C (p.Asp688His)	SLC26A3 (D688H)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1916568	NM_000111.3(SLC26A3):c.2061T>A (p.Asp687Glu)	SLC26A3 (D687E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1470865	NM_000111.3(SLC26A3):c.2051T>C (p.Val684Ala)	SLC26A3 (V684A)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1466694	NM_000111.3(SLC26A3):c.2050G>A (p.Val684Ile)	SLC26A3 (V684I)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1671437	NM_000111.3(SLC26A3):c.2049C>T (p.Ile683=)	SLC26A3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1484442	NM_000111.3(SLC26A3):c.2045A>G (p.Tyr682Cys)	SLC26A3 (Y682C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2822909	NM_000111.3(SLC26A3):c.2043G>A (p.Val681=)	SLC26A3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1984003	NM_000111.3(SLC26A3):c.2043G>C (p.Val681=)	SLC26A3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2113878	NM_000111.3(SLC26A3):c.2040T>A (p.Asp680Glu)	SLC26A3 (D680E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2827735	NM_000111.3(SLC26A3):c.2034G>A (p.Lys678=)	SLC26A3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 55988	NM_000111.3(SLC26A3):c.2024_2026dup (p.Ile675dup)	SLC26A3	Duplication (inframe_insertion)	not provided +1 more	GPathogenic
Select item 1926621	NM_000111.3(SLC26A3):c.2023A>T (p.Ile675Phe)	SLC26A3 (I675F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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