ClinVar for Gene (Select 115019) - ClinVar

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Links from Gene

Items: 89

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3319344	NM_052934.4(SLC26A9):c.679A>C (p.Thr227Pro)	SLC26A9 (T227P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3319343	NM_052934.4(SLC26A9):c.172G>A (p.Val58Met)	SLC26A9 (V58M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3319342	NM_052934.4(SLC26A9):c.103G>A (p.Glu35Lys)	SLC26A9, SLC26A9-AS1 (E35K)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3319341	NM_052934.4(SLC26A9):c.622A>T (p.Met208Leu)	SLC26A9 (M208L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3319340	NM_052934.4(SLC26A9):c.614G>A (p.Arg205Gln)	SLC26A9 (R205Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3319339	NM_052934.4(SLC26A9):c.15G>T (p.Arg5Ser)	SLC26A9, SLC26A9-AS1 (R5S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3319338	NM_052934.4(SLC26A9):c.64G>A (p.Asp22Asn)	SLC26A9, SLC26A9-AS1 (D22N)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3319336	NM_052934.4(SLC26A9):c.437C>T (p.Ser146Leu)	SLC26A9 (S146L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3319335	NM_052934.4(SLC26A9):c.1973C>T (p.Pro658Leu)	SLC26A9 (P658L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3248093	NC_000001.10:g.(?_190829412)_(216061974_?)del	RPS6KC1, SERTAD4 +185 more	Deletion	not provided	GPathogenic
Select item 3163919	NM_052934.4(SLC26A9):c.800T>A (p.Val267Glu)	SLC26A9 (V267E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3163918	NM_052934.4(SLC26A9):c.781A>C (p.Ile261Leu)	SLC26A9 (I261L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3163917	NM_052934.4(SLC26A9):c.751A>G (p.Thr251Ala)	SLC26A9 (T251A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3163916	NM_052934.4(SLC26A9):c.748C>T (p.His250Tyr)	SLC26A9 (H250Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3163915	NM_052934.4(SLC26A9):c.736A>G (p.Lys246Glu)	SLC26A9 (K246E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3163914	NM_052934.4(SLC26A9):c.514G>C (p.Val172Leu)	SLC26A9 (V172L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3163913	NM_052934.4(SLC26A9):c.*382G>A	SLC26A9 (A861T)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3163912	NM_052934.4(SLC26A9):c.*278C>T	SLC26A9 (A826V)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3163911	NM_052934.4(SLC26A9):c.2237C>A (p.Pro746Gln)	SLC26A9 (P746Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3163909	NM_052934.4(SLC26A9):c.2060G>C (p.Ser687Thr)	SLC26A9 (S687T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3163908	NM_052934.4(SLC26A9):c.1694A>G (p.Lys565Arg)	SLC26A9 (K565R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3163905	NM_052934.4(SLC26A9):c.1468G>C (p.Val490Leu)	SLC26A9 (V490L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3163904	NM_052934.4(SLC26A9):c.1315G>A (p.Ala439Thr)	SLC26A9 (A439T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3163903	NM_052934.4(SLC26A9):c.113G>T (p.Arg38Leu)	SLC26A9, SLC26A9-AS1 (R38L)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2639857	NM_052934.4(SLC26A9):c.514G>A (p.Val172Met)	SLC26A9 (V172M)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2620084	NM_052934.4(SLC26A9):c.*194G>A	SLC26A9 (G798E)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2618661	NM_052934.4(SLC26A9):c.671T>C (p.Phe224Ser)	SLC26A9 (F224S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2617409	NM_052934.4(SLC26A9):c.2153A>G (p.Asp718Gly)	SLC26A9 (D718G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2616436	NM_052934.4(SLC26A9):c.169C>T (p.Pro57Ser)	SLC26A9 (P57S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2596955	NM_052934.4(SLC26A9):c.614G>C (p.Arg205Pro)	SLC26A9 (R205P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2595472	NM_052934.4(SLC26A9):c.245G>C (p.Gly82Ala)	SLC26A9 (G82A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2590068	NM_052934.4(SLC26A9):c.2321T>C (p.Leu774Ser)	SLC26A9 (L774S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2569256	NM_052934.4(SLC26A9):c.2176G>A (p.Val726Ile)	SLC26A9 (V726I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2528510	NM_052934.4(SLC26A9):c.2305C>T (p.Arg769Cys)	SLC26A9 (R769C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2527189	NM_052934.4(SLC26A9):c.692A>T (p.Tyr231Phe)	SLC26A9 (Y231F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2521395	NM_052934.4(SLC26A9):c.1180A>G (p.Thr394Ala)	SLC26A9 (T394A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2511496	NM_052934.4(SLC26A9):c.*259G>A	SLC26A9 (A820T)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GLikely benign
Select item 2490419	NM_052934.4(SLC26A9):c.238A>G (p.Ser80Gly)	SLC26A9 (S80G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2475941	NM_052934.4(SLC26A9):c.631G>A (p.Ala211Thr)	SLC26A9 (A211T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2472761	NM_052934.4(SLC26A9):c.*176A>G	SLC26A9 (E792G)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2467054	NM_052934.4(SLC26A9):c.1198G>A (p.Ala400Thr)	SLC26A9 (A400T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2464334	NM_052934.4(SLC26A9):c.25G>A (p.Val9Met)	SLC26A9, SLC26A9-AS1 (V9M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2457972	NM_052934.4(SLC26A9):c.2034G>A (p.Met678Ile)	SLC26A9 (M678I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2456982	NM_052934.4(SLC26A9):c.1927G>A (p.Ala643Thr)	SLC26A9 (A643T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2456443	NM_052934.4(SLC26A9):c.842G>A (p.Arg281His)	SLC26A9 (R281H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2425293	NC_000001.10:g.(?_200522516)_(206945780_?)dup	ADIPOR1, ADORA1 +90 more	Duplication	Epilepsy, familial adult myoclonic, 5	GUncertain significance
Select item 2422293	NC_000001.10:g.(?_200522516)_(208391267_?)dup	ADIPOR1, ADORA1 +110 more	Duplication	not provided	GUncertain significance
Select item 2411854	NM_052934.4(SLC26A9):c.712G>A (p.Val238Ile)	SLC26A9 (V238I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2408281	NM_052934.4(SLC26A9):c.1963A>G (p.Ser655Gly)	SLC26A9 (S655G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2386001	NM_052934.4(SLC26A9):c.1495T>C (p.Phe499Leu)	SLC26A9 (F499L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2381857	NM_052934.4(SLC26A9):c.1885C>T (p.Pro629Ser)	SLC26A9 (P629S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2381377	NM_052934.4(SLC26A9):c.732T>G (p.Ile244Met)	SLC26A9 (I244M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2380877	NM_052934.4(SLC26A9):c.20G>A (p.Arg7His)	SLC26A9, SLC26A9-AS1 (R7H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2361447	NM_052934.4(SLC26A9):c.1087G>A (p.Val363Met)	SLC26A9 (V363M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2324964	NM_052934.4(SLC26A9):c.1156G>A (p.Val386Ile)	SLC26A9 (V386I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2319302	NM_052934.4(SLC26A9):c.1448C>T (p.Ala483Val)	SLC26A9 (A483V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2307208	NM_052934.4(SLC26A9):c.*232C>T	SLC26A9 (P811S)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2276908	NM_052934.4(SLC26A9):c.2104A>G (p.Ile702Val)	SLC26A9 (I702V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2269328	NM_052934.4(SLC26A9):c.*245G>A	SLC26A9 (R815H)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2267782	NM_052934.4(SLC26A9):c.241G>A (p.Gly81Arg)	SLC26A9 (G81R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2266209	NM_052934.4(SLC26A9):c.1058G>A (p.Arg353Gln)	SLC26A9 (R353Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2249124	NM_052934.4(SLC26A9):c.926T>C (p.Met309Thr)	SLC26A9 (M309T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2244787	NM_052934.4(SLC26A9):c.1319T>C (p.Val440Ala)	SLC26A9 (V440A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2241656	NM_052934.4(SLC26A9):c.1255A>C (p.Met419Leu)	SLC26A9 (M419L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2236119	NM_052934.4(SLC26A9):c.388G>A (p.Val130Ile)	SLC26A9 (V130I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2235197	NM_052934.4(SLC26A9):c.1073A>G (p.Lys358Arg)	SLC26A9 (K358R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2227737	NM_052934.4(SLC26A9):c.1528G>A (p.Asp510Asn)	SLC26A9 (D510N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2224816	NM_052934.4(SLC26A9):c.2285A>G (p.Tyr762Cys)	SLC26A9 (Y762C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2210752	NM_052934.4(SLC26A9):c.971C>T (p.Ser324Leu)	SLC26A9 (S324L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 1809264	GRCh37/hg19 1q25.3-32.3(chr1:181453460-213107248)x3	ASPM, IPO9 +211 more	Copy number gain	not provided	GPathogenic
Select item 1708464	GRCh37/hg19 1q31.3-44(chr1:197867914-249224684)x3	COA6, COG2 +381 more	Copy number gain	See cases	GPathogenic
Select item 1003645	NC_000001.10:g.(?_130980840)_(248900000_?)dup	FCGR3A, LCE3C +956 more	Duplication	Parathyroid carcinoma +2 more	GUncertain significance
Select item 972964	GRCh37/hg19 1q31.3-32.2(chr1:194356425-210988710)x3	CD34, MDM4 +145 more	Copy number gain	not provided	Gnot provided
Select item 816482	GRCh37/hg19 1q32.1-44(chr1:204045948-249218992)x3	C1orf35, C1orf74 +320 more	Copy number gain	See cases	GPathogenic
Select item 724840	NM_052934.4(SLC26A9):c.2286C>T (p.Tyr762=)	SLC26A9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 685144	GRCh37/hg19 1q25.3-44(chr1:182388773-249111240)x3	C4BPB, CACNA1S +433 more	Copy number gain	not provided	GPathogenic
Select item 545154	NC_000001.11:g.(?_204033173)_(208209798_?)del	LOC129932391, PIK3C2B +278 more	Deletion	Autism	GLikely pathogenic
Select item 523270	GRCh37/hg19 1q32.1-32.3(chr1:204682513-212815646)	CAMK1G, CD34 +75 more	Copy number loss	Global developmental delay +2 more	GPathogenic
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	CD34, CD46 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	GPATCH2, GPATCH3 +2014 more	Copy number gain	See cases	GPathogenic
Select item 403454	NM_052934.4(SLC26A9):c.2055+15A>G	SLC26A9	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 403453	NM_052934.4(SLC26A9):c.2085G>A (p.Val695=)	SLC26A9	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign
Select item 403452	NM_052934.4(SLC26A9):c.2243A>G (p.His748Arg)	SLC26A9 (H748R)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign
Select item 403451	NM_052934.4(SLC26A9):c.*211A>G	SLC26A9 (R804G)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified +1 more	GBenign
Select item 403450	NM_052934.4(SLC26A9):c.*423A>G	SLC26A9	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GBenign
Select item 394081	GRCh37/hg19 1q31.3-44(chr1:195483439-249213000)x3	AVPR1B, B3GALNT2 +393 more	Copy number gain	See cases	GPathogenic
Select item 253654	GRCh37/hg19 1q31.3-42.13(chr1:197811907-228997888)x3	ACBD3, ADIPOR1 +242 more	Copy number gain	See cases	GPathogenic
Select item 153790	GRCh38/hg38 1q32.1-42.12(chr1:204764914-225408698)x3	LOC129388734, LOC129388735 +723 more	Copy number gain	See cases	GPathogenic
Select item 58112	GRCh38/hg38 1q31.1-42.11(chr1:187143981-224299417)x3	LOC129932539, LOC129932540 +1148 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 89