SLC26A7[gene] - ClinVar

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Items: 86

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 153413	GRCh38/hg38 8p23.3-q24.3(chr8:208048-145070385)x3	LOC126860438, LOC126860439 +3663 more	Copy number gain	See cases	GPathogenic
Select item 154791	GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3	AARD, ABRA +3663 more	Copy number gain	See cases	GPathogenic
Select item 59738	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3	AARD, ABRA +3661 more	Copy number gain	See cases	GPathogenic
Select item 57496	GRCh38/hg38 8p23.3-q24.3(chr8:241530-145049449)x3	LOC105379224, LOC105379230 +3657 more	Copy number gain	See cases	GPathogenic
Select item 149660	GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3	AARD, ABRA +3661 more	Copy number gain	See cases	GPathogenic
Select item 153737	GRCh38/hg38 8p21.3-q24.3(chr8:21291522-145070385)x3	LOC129999966, LOC129999967 +3111 more	Copy number gain	See cases	GPathogenic
Select item 150723	GRCh38/hg38 8q11.1-24.3(chr8:46031340-139285494)x3	LOC126860489, LOC126860490 +1963 more	Copy number gain	See cases	GPathogenic
Select item 147946	GRCh38/hg38 8q13.1-22.1(chr8:66171669-93505509)x3	LOC130000591, LOC130000592 +470 more	Copy number gain	See cases	GPathogenic
Select item 150141	GRCh38/hg38 8q21.13-24.3(chr8:77480050-145068712)x3	AARD, ABRA +1691 more	Copy number gain	See cases	GPathogenic
Select item 60379	GRCh38/hg38 8q21.13-21.3(chr8:77765431-91839285)x1	ATP6V0D2, C8orf88 +217 more	Copy number loss	See cases	GPathogenic
Select item 154530	GRCh38/hg38 8q21.13-24.3(chr8:78614077-145054634)x3	LOC126860535, LOC126860536 +1687 more	Copy number gain	See cases	GPathogenic
Select item 60380	GRCh38/hg38 8q21.13-22.1(chr8:78672463-95366868)x1	LOC130000705, LOC130000706 +327 more	Copy number loss	See cases	GPathogenic
Select item 155592	GRCh38/hg38 8q21.2-24.3(chr8:85765999-145070385)x3	LOC105375713, LOC105375742 +1553 more	Copy number gain	See cases	GPathogenic
Select item 146316	GRCh38/hg38 8q21.3-24.23(chr8:86300584-137022587)x3	AARD, ABRA +1153 more	Copy number gain	See cases	GPathogenic
Select item 149554	GRCh38/hg38 8q21.3-24.3(chr8:87931152-145068712)x3	LOC130001109, LOC130001110 +1532 more	Copy number gain	See cases	GPathogenic
Select item 60381	GRCh38/hg38 8q21.3-22.1(chr8:90940996-94538343)x1	C8orf88, CDH17 +72 more	Copy number loss	See cases	GPathogenic
Select item 2487749	NM_001129890.2(LRRC69):c.964G>A (p.Val322Met)	LRRC69, SLC26A7 (V166M +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3291723	NM_001129890.2(LRRC69):c.1009C>T (p.Arg337Cys)	LRRC69, SLC26A7 (R337C +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2557119	NM_001129890.2(LRRC69):c.1037A>C (p.Gln346Pro)	LRRC69, SLC26A7 (Q190P +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2292225	NM_001129890.2(LRRC69):c.1037A>G (p.Gln346Arg)	LRRC69, SLC26A7 (Q346R +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2483901	NM_052832.4(SLC26A7):c.32T>C (p.Met11Thr)	SLC26A7 (M11T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2359537	NM_052832.4(SLC26A7):c.71T>C (p.Ile24Thr)	SLC26A7 (I24T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3319331	NM_052832.4(SLC26A7):c.92G>A (p.Arg31Gln)	SLC26A7 (R31Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2242318	NM_052832.4(SLC26A7):c.172G>A (p.Ala58Thr)	SLC26A7 (A58T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 157125	Single allele	SLC26A7	Deletion	Small for gestational age	Gnot provided
Select item 3163879	NM_052832.4(SLC26A7):c.200C>T (p.Ala67Val)	SLC26A7 (A67V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3163880	NM_052832.4(SLC26A7):c.257C>T (p.Pro86Leu)	SLC26A7 (P86L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2476803	NM_052832.4(SLC26A7):c.289C>T (p.His97Tyr)	SLC26A7 (H97Y)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1330444	NM_052832.4(SLC26A7):c.299C>T (p.Ala100Val)	SLC26A7 (A100V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3163881	NM_052832.4(SLC26A7):c.387G>T (p.Gln129His)	SLC26A7 (Q129H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2362274	NM_052832.4(SLC26A7):c.399C>A (p.Ser133Arg)	SLC26A7 (S133R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3163883	NM_052832.4(SLC26A7):c.413C>T (p.Ser138Phe)	SLC26A7 (S138F)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3043926	NM_052832.4(SLC26A7):c.512C>T (p.Thr171Ile)	SLC26A7 (T171I)	Single nucleotide variant (missense variant +1 more)	SLC26A7-related disorder	GLikely benign
Select item 2355490	NM_052832.4(SLC26A7):c.562A>G (p.Thr188Ala)	SLC26A7 (T188A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3163884	NM_052832.4(SLC26A7):c.625C>T (p.Pro209Ser)	SLC26A7 (P209S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3319329	NM_052832.4(SLC26A7):c.680G>A (p.Arg227Gln)	SLC26A7 (R227Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2486637	NM_052832.4(SLC26A7):c.700T>A (p.Ser234Thr)	SLC26A7 (S234T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2396623	NM_052832.4(SLC26A7):c.704T>C (p.Leu235Ser)	SLC26A7 (L235S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3163885	NM_052832.4(SLC26A7):c.713T>C (p.Ile238Thr)	SLC26A7 (I238T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2394045	NM_052832.4(SLC26A7):c.766A>G (p.Lys256Glu)	SLC26A7 (K256E)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2502381	NM_052832.4(SLC26A7):c.809C>A (p.Ser270Ter)	SLC26A7 (S270*)	Single nucleotide variant (nonsense +1 more)	Hyperoxaluria	GUncertain significance
Select item 2256672	NM_052832.4(SLC26A7):c.824G>T (p.Cys275Phe)	SLC26A7 (C275F)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3163886	NM_052832.4(SLC26A7):c.829A>C (p.Asn277His)	SLC26A7 (N277H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3163887	NM_052832.4(SLC26A7):c.884C>T (p.Pro295Leu)	SLC26A7 (P295L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2532330	NM_052832.4(SLC26A7):c.920C>T (p.Ala307Val)	SLC26A7 (A307V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2138395	NM_052832.4(SLC26A7):c.1026+1G>A	SLC26A7	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 770947	NM_052832.4(SLC26A7):c.1045C>T (p.Leu349Phe)	SLC26A7 (L349F +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2511735	NM_052832.4(SLC26A7):c.1168G>A (p.Val390Ile)	SLC26A7 (V390I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 810301	NM_052832.4(SLC26A7):c.1247G>C (p.Gly416Ala)	SLC26A7 (G115A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2623823	NM_052832.4(SLC26A7):c.1281A>C (p.Leu427Phe)	SLC26A7 (L126F +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2264643	NM_052832.4(SLC26A7):c.1325T>C (p.Val442Ala)	SLC26A7 (V442A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2355489	NM_052832.4(SLC26A7):c.1343C>T (p.Thr448Ile)	SLC26A7 (T147I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 774883	NM_052832.4(SLC26A7):c.1363G>A (p.Val455Met)	SLC26A7 (V154M +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign/Likely benign
Select item 2269058	NM_052832.4(SLC26A7):c.1391C>T (p.Thr464Ile)	SLC26A7 (T163I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 828176	NM_052832.4(SLC26A7):c.1498C>T (p.Gln500Ter)	SLC26A7 (Q199* +1 more)	Single nucleotide variant (nonsense)	Congenital hypothyroidism	GLikely pathogenic
Select item 2357350	NM_052832.4(SLC26A7):c.1510A>C (p.Ile504Leu)	SLC26A7 (I504L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2164580	NM_052832.4(SLC26A7):c.1554dup (p.Phe519fs)	SLC26A7 (F218fs +1 more)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 2556650	NM_052832.4(SLC26A7):c.1672A>C (p.Asn558His)	SLC26A7 (N257H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2461448	NM_052832.4(SLC26A7):c.1730G>C (p.Ser577Thr)	SLC26A7 (S276T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2543642	NM_052832.4(SLC26A7):c.1765A>G (p.Met589Val)	SLC26A7 (M288V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3319330	NM_052832.4(SLC26A7):c.1808A>T (p.Asp603Val)	SLC26A7 (D302V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2330069	NM_052832.4(SLC26A7):c.1932T>A (p.Asn644Lys)	SLC26A7 (N644K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 729019	NM_052832.4(SLC26A7):c.1935+196_1935+198del	SLC26A7 (L651del)	Microsatellite (inframe_deletion +1 more)	not provided	GLikely benign
Select item 2606093	NM_052832.4(SLC26A7):c.1935+197T>C	SLC26A7 (F652L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3063013	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3	AARD, ABRA +665 more	Copy number gain	not specified	GPathogenic
Select item 2685316	GRCh37/hg19 8q21.3-22.1(chr8:86955187-94955826)x1	ATP6V0D2, CALB1 +26 more	Copy number loss	not provided	GUncertain significance
Select item 2685315	GRCh37/hg19 8q21.13-22.1(chr8:84127576-98263585)x1	ATP6V0D2, CA1 +53 more	Copy number loss	not provided	GPathogenic
Select item 2684546	GRCh37/hg19 8q21.12-22.3(chr8:79046933-102008860)x3	ANKRD46, ATP6V0D2 +96 more	Copy number gain	not provided	GPathogenic
Select item 2506527	GRCh37/hg19 8q21.3-22.1(chr8:89179899-97978274)	LINC02906, LRRC69 +36 more	Copy number loss	not provided	GPathogenic
Select item 1808681	GRCh37/hg19 8q21.12-24.11(chr8:79409349-119040631)x3	AARD, ABRA +141 more	Copy number gain	not provided	GPathogenic
Select item 1711167	GRCh37/hg19 8q13.2-24.3(chr8:68912432-146295771)x2	AARD, ABRA +335 more	Copy number gain	See cases	GPathogenic
Select item 1706511	GRCh37/hg19 8q21.2-24.3(chr8:84712253-146295771)x3	AARD, ABRA +285 more	Copy number gain	See cases	GPathogenic
Select item 1703544	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)	AARD, ABRA +665 more	Copy number gain	Polydactyly	GPathogenic
Select item 1527440	GRCh37/hg19 8q13.2-24.3(chr8:70382990-146295771)	DCAF4L2, DCSTAMP +333 more	Copy number gain	not specified	GPathogenic
Select item 1340584	GRCh37/hg19 8q21.3(chr8:92350684-92426454)x1	SLC26A7	Copy number loss	not provided	GUncertain significance
Select item 687787	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3	BAALC, CNOT7 +665 more	Copy number gain	not provided	GPathogenic
Select item 687493	GRCh37/hg19 8p12-q24.3(chr8:31936551-146295771)x3	HSF1, HTRA4 +474 more	Copy number gain	not provided	GPathogenic
Select item 563556	GRCh37/hg19 8q21.2-23.3(chr8:86841154-116518125)x3	DCAF13, CNGB3 +105 more	Copy number gain	not provided	GPathogenic
Select item 563522	GRCh37/hg19 8q21.3-22.1(chr8:91914994-93365750)x1	RUNX1T1, OTUD6B +4 more	Copy number loss	not provided	GUncertain significance
Select item 563506	GRCh37/hg19 8q21.3(chr8:92378841-93053423)x1	RUNX1T1, SLC26A7	Copy number loss	not provided	GUncertain significance
Select item 443924	GRCh37/hg19 8q21.2-24.3(chr8:86841154-146295771)x3	AARD, ABRA +277 more	Copy number gain	See cases	GPathogenic
Select item 443619	GRCh37/hg19 8p23.1-q24.3(chr8:12490999-146295771)x3	AARD, ABRA +593 more	Copy number gain	See cases	GPathogenic
Select item 442201	GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771)x3	AARD, ABRA +665 more	Copy number gain	See cases	GPathogenic
Select item 442200	GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771)	FGF20, FGFR1 +665 more	Copy number gain	See cases	GPathogenic
Select item 441594	GRCh37/hg19 8q21.2-24.3(chr8:86841228-142689874)x3	SLC45A4, SLC7A13 +189 more	Copy number gain	See cases	GPathogenic
Select item 394884	GRCh37/hg19 8p23.3-q24.3(chr8:158991-146280828)x3	SCRT1, SCX +665 more	Copy number gain	See cases	GPathogenic

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Items: 86