116369[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155430	GRCh38/hg38 6p25.3-12.3(chr6:156974-46789291)x3	AARS2, ABCC10 +2577 more	Copy number gain	See cases	GPathogenic
Select item 730861	NM_052961.4(SLC26A8):c.2894A>G (p.Asn965Ser)	SLC26A8 (N860S +1 more)	Single nucleotide variant (missense variant)	SLC26A8-related condition +1 more	GLikely benign
Select item 50911	NM_052961.4(SLC26A8):c.2860C>T (p.Arg954Cys)	SLC26A8 (R954C +1 more)	Single nucleotide variant (missense variant)	Spermatogenic failure 3	GPathogenic
Select item 3163898	NM_052961.4(SLC26A8):c.2830C>A (p.Gln944Lys)	SLC26A8 (Q944K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2278367	NM_052961.4(SLC26A8):c.2820G>C (p.Gln940His)	SLC26A8 (Q940H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2454576	NM_052961.4(SLC26A8):c.2801C>T (p.Pro934Leu)	SLC26A8 (P934L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2656511	NM_052961.4(SLC26A8):c.2734C>T (p.Pro912Ser)	SLC26A8 (P807S +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3163897	NM_052961.4(SLC26A8):c.2681C>T (p.Thr894Ile)	SLC26A8 (T789I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2290409	NM_052961.4(SLC26A8):c.2639G>A (p.Arg880Gln)	SLC26A8 (R880Q +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3033960	NM_052961.4(SLC26A8):c.2613G>C (p.Gly871=)	SLC26A8	Single nucleotide variant (synonymous variant)	SLC26A8-related condition	GLikely benign
Select item 2287091	NM_052961.4(SLC26A8):c.2547G>T (p.Lys849Asn)	SLC26A8 (K744N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3163896	NM_052961.4(SLC26A8):c.2518C>A (p.Gln840Lys)	SLC26A8 (Q840K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2304877	NM_052961.4(SLC26A8):c.2495T>C (p.Met832Thr)	SLC26A8 (M832T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2305227	NM_052961.4(SLC26A8):c.2488T>C (p.Tyr830His)	SLC26A8 (Y725H +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 1280228	NM_052961.4(SLC26A8):c.2473-152T>C	SLC26A8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1277385	NM_052961.4(SLC26A8):c.2473-184ATT[3]	SLC26A8	Microsatellite (intron variant)	not provided	GBenign
Select item 788857	NM_052961.4(SLC26A8):c.2447G>A (p.Arg816Gln)	SLC26A8 (R816Q +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 50910	NM_052961.4(SLC26A8):c.2434G>A (p.Glu812Lys)	SLC26A8 (E812K +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 791537	NM_052961.4(SLC26A8):c.2425G>A (p.Asp809Asn)	SLC26A8 (D809N +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2456196	NM_052961.4(SLC26A8):c.2374G>A (p.Val792Met)	SLC26A8 (V687M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2508677	NM_052961.4(SLC26A8):c.2254G>A (p.Ala752Thr)	SLC26A8 (A647T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3163895	NM_052961.4(SLC26A8):c.2243C>G (p.Ala748Gly)	SLC26A8 (A748G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3044807	NM_052961.4(SLC26A8):c.2200G>A (p.Val734Met)	SLC26A8 (V629M +1 more)	Single nucleotide variant (missense variant)	SLC26A8-related condition	GLikely benign
Select item 2273470	NM_052961.4(SLC26A8):c.2200G>C (p.Val734Leu)	SLC26A8 (V629L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2287875	NM_052961.4(SLC26A8):c.2159G>A (p.Ser720Asn)	SLC26A8 (S615N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3163894	NM_052961.4(SLC26A8):c.2087G>A (p.Gly696Glu)	SLC26A8 (G696E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2287683	NM_052961.4(SLC26A8):c.2051G>C (p.Trp684Ser)	SLC26A8 (W684S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2609468	NM_052961.4(SLC26A8):c.2032G>A (p.Glu678Lys)	SLC26A8 (E678K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1709524	NM_052961.4(SLC26A8):c.2031T>G (p.Tyr677Ter)	SLC26A8 (Y572* +1 more)	Single nucleotide variant (nonsense)	Spermatogenic failure 3	GUncertain significance
Select item 3163893	NM_052961.4(SLC26A8):c.2028G>C (p.Gln676His)	SLC26A8 (Q571H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2289225	NM_052961.4(SLC26A8):c.1951A>G (p.Asn651Asp)	SLC26A8 (N651D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1234924	NM_052961.4(SLC26A8):c.1915A>G (p.Ile639Val)	SLC26A8 (I534V +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2536660	NM_052961.4(SLC26A8):c.1906G>A (p.Ala636Thr)	SLC26A8 (A531T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 719174	NM_052961.4(SLC26A8):c.1902C>T (p.Pro634=)	SLC26A8	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2570189	NM_052961.4(SLC26A8):c.1853C>T (p.Pro618Leu)	SLC26A8 (P513L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3163892	NM_052961.4(SLC26A8):c.1810G>A (p.Gly604Arg)	SLC26A8 (G499R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2407606	NM_052961.4(SLC26A8):c.1808G>A (p.Gly603Glu)	SLC26A8 (G498E +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 788534	NM_052961.4(SLC26A8):c.1733T>C (p.Val578Ala)	SLC26A8 (V473A +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 788535	NM_052961.4(SLC26A8):c.1731+8C>G	SLC26A8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2521940	NM_052961.4(SLC26A8):c.1672T>A (p.Cys558Ser)	SLC26A8 (C453S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1686929	NM_052961.4(SLC26A8):c.1664del (p.Ile555fs)	SLC26A8 (I450fs +1 more)	Deletion (frameshift variant)	Spermatogenic failure 3	GPathogenic
Select item 3163890	NM_052961.4(SLC26A8):c.1641C>G (p.Ile547Met)	SLC26A8 (I547M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1285949	NM_052961.4(SLC26A8):c.1639-195G>A	SLC26A8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2300524	NM_052961.4(SLC26A8):c.1559G>A (p.Arg520His)	SLC26A8 (R415H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3163889	NM_052961.4(SLC26A8):c.1547T>G (p.Ile516Ser)	SLC26A8 (I411S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 711975	NM_052961.4(SLC26A8):c.1492A>G (p.Ile498Val)	SLC26A8 (I393V +1 more)	Single nucleotide variant (missense variant)	SLC26A8-related condition +1 more	GBenign/Likely benign
Select item 2599929	NM_052961.4(SLC26A8):c.1484C>T (p.Ser495Leu)	SLC26A8 (S495L +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3163888	NM_052961.4(SLC26A8):c.1417A>G (p.Ile473Val)	SLC26A8 (I368V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2548659	NM_052961.4(SLC26A8):c.1363A>G (p.Asn455Asp)	SLC26A8 (N455D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3026053	NM_052961.4(SLC26A8):c.1204G>A (p.Val402Ile)	SLC26A8 (V297I +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 783458	NM_052961.4(SLC26A8):c.1174-4A>G	SLC26A8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2458868	NM_052961.4(SLC26A8):c.1163A>G (p.Asn388Ser)	SLC26A8 (N283S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2480462	NM_052961.4(SLC26A8):c.1117A>G (p.Ile373Val)	SLC26A8 (I268V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1223144	NM_052961.4(SLC26A8):c.1026-107dup	SLC26A8	Duplication (intron variant)	not provided	GBenign
Select item 1230763	NM_052961.4(SLC26A8):c.1026-215G>A	SLC26A8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2527599	NM_052961.4(SLC26A8):c.1015A>T (p.Ile339Phe)	SLC26A8 (I339F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1229876	NM_052961.4(SLC26A8):c.943-95C>G	SLC26A8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1236623	NM_052961.4(SLC26A8):c.943-230A>G	SLC26A8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1261239	NM_052961.4(SLC26A8):c.942+275C>T	SLC26A8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1183448	NM_052961.4(SLC26A8):c.942+218A>C	SLC26A8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3163902	NM_052961.4(SLC26A8):c.929T>A (p.Met310Lys)	SLC26A8 (M310K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2525158	NM_052961.4(SLC26A8):c.904A>C (p.Asn302His)	SLC26A8 (N302H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3042448	NM_052961.4(SLC26A8):c.837C>A (p.Thr279=)	SLC26A8	Single nucleotide variant (synonymous variant +1 more)	SLC26A8-related condition	GLikely benign
Select item 1695158	NM_052961.4(SLC26A8):c.827C>T (p.Ala276Val)	SLC26A8 (A276V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3163901	NM_052961.4(SLC26A8):c.772G>A (p.Gly258Ser)	SLC26A8 (G258S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2210886	NM_052961.4(SLC26A8):c.716A>G (p.His239Arg)	SLC26A8 (H239R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1243863	NM_052961.4(SLC26A8):c.689G>A (p.Ser230Asn)	SLC26A8 (S230N)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2342681	NM_052961.4(SLC26A8):c.668A>G (p.Tyr223Cys)	SLC26A8 (Y223C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3043287	NM_052961.4(SLC26A8):c.643T>C (p.Leu215=)	SLC26A8	Single nucleotide variant (synonymous variant +1 more)	SLC26A8-related condition	GLikely benign
Select item 3038455	NM_052961.4(SLC26A8):c.639C>T (p.Gly213=)	SLC26A8	Single nucleotide variant (synonymous variant +1 more)	SLC26A8-related condition	GLikely benign
Select item 1270256	NM_052961.4(SLC26A8):c.628-163G>A	SLC26A8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1274222	NM_052961.4(SLC26A8):c.627+305G>A	SLC26A8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1237358	NM_052961.4(SLC26A8):c.627+150G>A	SLC26A8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 725281	NM_052961.4(SLC26A8):c.555C>T (p.Pro185=)	SLC26A8	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2568976	NM_052961.4(SLC26A8):c.532G>A (p.Val178Ile)	SLC26A8 (V178I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 1233806	NM_052961.4(SLC26A8):c.446-114G>A	SLC26A8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1238854	NM_052961.4(SLC26A8):c.446-173A>T	SLC26A8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1229827	NM_052961.4(SLC26A8):c.442A>G (p.Ile148Val)	SLC26A8 (I148V)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3163900	NM_052961.4(SLC26A8):c.403G>A (p.Val135Ile)	SLC26A8 (V135I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2369325	NM_052961.4(SLC26A8):c.379G>A (p.Ala127Thr)	SLC26A8 (A127T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2656512	NM_052961.4(SLC26A8):c.378C>T (p.Ile126=)	SLC26A8	Single nucleotide variant (synonymous variant)	SLC26A8-related condition +1 more	GLikely benign
Select item 1279430	NM_052961.4(SLC26A8):c.329-215A>G	SLC26A8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1686928	NM_052961.4(SLC26A8):c.290T>C (p.Leu97Pro)	SLC26A8 (L97P)	Single nucleotide variant (missense variant)	Spermatogenic failure 3	GPathogenic
Select item 3037302	NM_052961.4(SLC26A8):c.285C>T (p.Asp95=)	SLC26A8	Single nucleotide variant (synonymous variant)	SLC26A8-related condition	GLikely benign
Select item 50909	NM_052961.4(SLC26A8):c.260G>A (p.Arg87Gln)	SLC26A8 (R87Q)	Single nucleotide variant (missense variant)	Spermatogenic failure 3	GPathogenic
Select item 2363827	NM_052961.4(SLC26A8):c.255G>C (p.Met85Ile)	SLC26A8 (M85I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1245672	NM_052961.4(SLC26A8):c.217G>A (p.Val73Met)	SLC26A8 (V73M)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2205566	NM_052961.4(SLC26A8):c.212G>A (p.Arg71Gln)	SLC26A8 (R71Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1686930	NM_052961.4(SLC26A8):c.212G>T (p.Arg71Leu)	SLC26A8 (R71L)	Single nucleotide variant (missense variant)	Spermatogenic failure 3	GPathogenic
Select item 1257606	NM_052961.4(SLC26A8):c.188+75T>C	SLC26A8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3163891	NM_052961.4(SLC26A8):c.178G>A (p.Val60Ile)	SLC26A8 (V60I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 785168	NM_052961.4(SLC26A8):c.60A>G (p.Ser20=)	SLC26A8	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2407547	NM_052961.4(SLC26A8):c.22G>A (p.Ala8Thr)	SLC26A8 (A8T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1269397	NM_052961.4(SLC26A8):c.-2-159A>G	SLC26A8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2685202	GRCh37/hg19 6p21.31-21.1(chr6:35562152-42003452)x1	BNIP5, APOBEC2 +67 more	Copy number loss	not provided	GPathogenic
Select item 2445505	NC_000006.11:g.(?_32148920)_(36953949_?)dup	ANKS1A, FKBP5 +94 more	Duplication	not provided	GUncertain significance
Select item 2427350	NC_000006.11:g.(?_30695893)_(36953949_?)dup	KIFC1, LEMD2 +172 more	Duplication	Proteasome-associated autoinflammatory syndrome 1	GUncertain significance
Select item 997072	GRCh37/hg19 6p21.31-21.2(chr6:34401304-38435497)	ANKS1A, ARMC12 +49 more	Copy number loss	Severe intrauterine growth retardation	GPathogenic
Select item 625706	GRCh37/hg19 6p22.1-q14.1(chr6:29455465-81447367)	LRRC1, LRRC73 +427 more	Copy number gain	not provided	GPathogenic
Select item 563171	GRCh37/hg19 6p21.31-21.2(chr6:34683518-36905281)x3	UHRF1BP1, SRSF3 +34 more	Copy number gain	not provided	GLikely pathogenic

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