ClinVar for Gene (Select 65010) - ClinVar

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Links from Gene

Items: 87

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3319328	NM_022911.3(SLC26A6):c.659C>T (p.Thr220Ile)	SLC26A6 (T199I +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3319327	NM_022911.3(SLC26A6):c.1162C>T (p.Leu388Phe)	SLC26A6 (L367F +3 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3319325	NM_022911.3(SLC26A6):c.450G>A (p.Met150Ile)	SLC26A6 (M129I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3319324	NM_022911.3(SLC26A6):c.1520G>A (p.Arg507Gln)	SLC26A6 (R400Q +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3319323	NM_022911.3(SLC26A6):c.2206C>T (p.His736Tyr)	SLC26A6 (H736Y +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3319322	NM_022911.3(SLC26A6):c.814G>T (p.Val272Leu)	SLC26A6 (V251L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3319321	NM_022911.3(SLC26A6):c.547G>A (p.Val183Met)	SLC26A6 (V183M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3247055	NC_000003.11:g.(?_47894522)_(49060605_?)del	ARIH2, ARIH2OS +29 more	Deletion	not provided	GUncertain significance
Select item 3163878	NM_022911.3(SLC26A6):c.958G>T (p.Val320Leu)	SLC26A6 (V213L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3163877	NM_022911.3(SLC26A6):c.902C>T (p.Thr301Met)	SLC26A6 (T265M +3 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3163876	NM_022911.3(SLC26A6):c.665C>T (p.Ala222Val)	SLC26A6 (A201V +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3163875	NM_022911.3(SLC26A6):c.353C>A (p.Pro118His)	SLC26A6 (P97H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3163874	NM_022911.3(SLC26A6):c.203A>G (p.Tyr68Cys)	SLC26A6 (Y68C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3163873	NM_022911.3(SLC26A6):c.1750G>A (p.Glu584Lys)	SLC26A6 (E584K +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3163872	NM_022911.3(SLC26A6):c.1721C>A (p.Ser574Tyr)	SLC26A6 (S467Y +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3163871	NM_022911.3(SLC26A6):c.1667T>C (p.Phe556Ser)	SLC26A6 (F535S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3163870	NM_022911.3(SLC26A6):c.1613G>A (p.Arg538Gln)	SLC26A6 (R431Q +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3163869	NM_022911.3(SLC26A6):c.1415C>T (p.Ala472Val)	SLC26A6 (A436V +3 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3163868	NM_022911.3(SLC26A6):c.1131C>G (p.Asn377Lys)	SLC26A6 (N341K +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2612071	NM_022911.3(SLC26A6):c.698A>G (p.Tyr233Cys)	SLC26A6 (Y212C +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2607724	NM_022911.3(SLC26A6):c.632C>T (p.Ser211Leu)	SLC26A6 (S190L +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2606452	NM_022911.3(SLC26A6):c.2130C>A (p.Ser710Arg)	SLC26A6 (S689R +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2598262	NM_022911.3(SLC26A6):c.1595C>T (p.Ser532Leu)	SLC26A6 (S425L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2551950	NM_022911.3(SLC26A6):c.1536C>A (p.His512Gln)	SLC26A6 (H476Q +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2549807	NM_022911.3(SLC26A6):c.2255G>A (p.Ser752Asn)	SLC26A6 (S644N +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2549279	NM_022911.3(SLC26A6):c.80G>A (p.Arg27Gln)	SLC26A6 (R6Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2545576	NM_022911.3(SLC26A6):c.1964G>A (p.Gly655Glu)	SLC26A6 (G636E +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2544574	NM_022911.3(SLC26A6):c.1144G>A (p.Ala382Thr)	SLC26A6 (A382T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2540488	NM_022911.3(SLC26A6):c.2249C>A (p.Pro750His)	SLC26A6 (P642H +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2516659	NM_022911.3(SLC26A6):c.1892T>C (p.Met631Thr)	SLC26A6 (M524T +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2502383	NM_022911.3(SLC26A6):c.1693-3_1697del	SLC26A6	Deletion (splice acceptor variant)	Hyperoxaluria	GUncertain significance
Select item 2492711	NM_022911.3(SLC26A6):c.385C>T (p.Pro129Ser)	SLC26A6 (P108S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2488981	NM_022911.3(SLC26A6):c.1130A>G (p.Asn377Ser)	SLC26A6 (N341S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2481519	NM_022911.3(SLC26A6):c.2145G>T (p.Gln715His)	SLC26A6 (Q694H +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2469219	NM_022911.3(SLC26A6):c.1658A>G (p.Asn553Ser)	SLC26A6 (N446S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2425284	NC_000003.11:g.(?_45435946)_(49137751_?)dup	ALS2CL, ARIH2 +66 more	Duplication	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome	GUncertain significance
Select item 2394257	NM_022911.3(SLC26A6):c.501C>G (p.Asn167Lys)	SLC26A6 (N146K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2387155	NM_022911.3(SLC26A6):c.205G>T (p.Ala69Ser)	SLC26A6 (A48S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2379641	NM_022911.3(SLC26A6):c.799G>A (p.Val267Met)	SLC26A6 (V267M +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2378033	NM_022911.3(SLC26A6):c.2264C>T (p.Ser755Leu)	SLC26A6 (S647L +5 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2374896	NM_022911.3(SLC26A6):c.1010A>G (p.Asn337Ser)	SLC26A6 (N301S +3 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2367920	NM_022911.3(SLC26A6):c.838G>T (p.Val280Leu)	SLC26A6 (V244L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2347377	NM_022911.3(SLC26A6):c.682G>A (p.Val228Ile)	SLC26A6 (R193H +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2333124	NM_022911.3(SLC26A6):c.1095C>G (p.Ile365Met)	SLC26A6 (I258M +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2317326	NM_022911.3(SLC26A6):c.1070C>T (p.Ala357Val)	SLC26A6 (A321V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2305826	NM_022911.3(SLC26A6):c.259C>T (p.Arg87Cys)	SLC26A6 (R87C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2300282	NM_022911.3(SLC26A6):c.1388T>C (p.Met463Thr)	SLC26A6 (M442T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2285213	NM_022911.3(SLC26A6):c.997C>G (p.Pro333Ala)	SLC26A6 (P297A +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2278887	NM_022911.3(SLC26A6):c.455T>G (p.Val152Gly)	SLC26A6 (V152G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2270004	NM_022911.3(SLC26A6):c.2088C>G (p.Phe696Leu)	SLC26A6 (F675L +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2269706	NM_022911.3(SLC26A6):c.948C>A (p.His316Gln)	SLC26A6 (H209Q +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2267969	NM_022911.3(SLC26A6):c.1118G>T (p.Arg373Leu)	SLC26A6 (R373L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2256355	NM_022911.3(SLC26A6):c.983C>T (p.Ala328Val)	SLC26A6 (A221V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2255254	NM_022911.3(SLC26A6):c.73C>T (p.Arg25Trp)	SLC26A6 (R25W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2234703	NM_022911.3(SLC26A6):c.1738C>T (p.Leu580Phe)	SLC26A6 (L473F +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2221231	NM_022911.3(SLC26A6):c.1990C>A (p.Pro664Thr)	SLC26A6 (P664T +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1341974	GRCh37/hg19 3p21.31(chr3:44948482-49115809)x1	NCKIPSD, NDUFAF3 +71 more	Copy number loss	not provided	GPathogenic
Select item 1282612	NM_022911.3(SLC26A6):c.1134+32C>A	SLC26A6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1273557	NM_022911.3(SLC26A6):c.616G>A (p.Val206Met)	SLC26A6 (R171H +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 1267587	NM_022911.3(SLC26A6):c.2074-51C>G	SLC26A6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1267449	NM_022911.3(SLC26A6):c.183-4C>A	SLC26A6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1246267	NM_022911.3(SLC26A6):c.1909G>A (p.Asp637Asn)	SLC26A6 (D529N +5 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1244044	NM_022911.3(SLC26A6):c.23+78_23+110del	SLC26A6	Microsatellite (intron variant)	not provided	GBenign
Select item 1234228	NM_022911.3(SLC26A6):c.1599+152T>C	SLC26A6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1231329	NM_022911.3(SLC26A6):c.1894-41C>T	SLC26A6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1226885	NM_022911.3(SLC26A6):c.585+30C>T	SLC26A6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1181046	NM_022911.3(SLC26A6):c.1135-17G>C	SLC26A6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1068732	NC_000003.11:g.(?_48507870)_(50340407_?)del	AMIGO3, AMT +62 more	Deletion	Chilblain lupus 1 +2 more	GPathogenic
Select item 932390	NM_022911.3(SLC26A6):c.318G>A (p.Pro106=)	SLC26A6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 814442	GRCh37/hg19 3p21.31(chr3:48346677-49630228)x1	PRKAR2A, ATRIP +42 more	Copy number loss	not provided	GPathogenic
Select item 782985	NM_022911.3(SLC26A6):c.1818C>T (p.Gly606=)	SLC26A6	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 759427	NM_022911.3(SLC26A6):c.1413G>A (p.Arg471=)	SLC26A6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 625696	GRCh37/hg19 3p21.31-21.1(chr3:45153770-53878616)	APEH, HEMK1 +177 more	Copy number gain	not provided	GPathogenic
Select item 442401	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3	HHLA2, HIGD1A +1054 more	Copy number gain	See cases	GPathogenic
Select item 442400	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)	A4GNT, AADAC +1054 more	Copy number gain	See cases	GPathogenic
Select item 253356	GRCh37/hg19 3p22.2-21.31(chr3:37028313-49929220)x3	ABHD5, ACAA1 +177 more	Copy number gain	See cases	GLikely pathogenic
Select item 144168	GRCh38/hg38 3p21.31-21.2(chr3:45879883-50749922)x4	ALS2CL, AMIGO3 +379 more	Copy number gain	See cases	GPathogenic
Select item 64458	NM_022911.3(SLC26A6):c.709C>A (p.Leu237Ile)	SLC26A6 (L216I +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 64457	NM_022911.3(SLC26A6):c.682G>C (p.Val228Leu)	SLC26A6 (V207L +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 64456	NM_022911.3(SLC26A6):c.365G>A (p.Gly122Asp)	SLC26A6 (G101D +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 64455	NM_022911.3(SLC26A6):c.2081A>T (p.His694Leu)	SLC26A6 (H673L +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 64454	NM_022911.3(SLC26A6):c.1902C>T (p.Ser634=)	SLC26A6	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 64453	NM_022911.3(SLC26A6):c.1653T>A (p.Phe551Leu)	SLC26A6 (F530L +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 64452	NM_022911.3(SLC26A6):c.1631G>A (p.Arg544His)	SLC26A6 (R523H +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 64451	NM_022911.3(SLC26A6):c.1618G>C (p.Val540Leu)	SLC26A6 (V519L +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 64450	NM_022911.3(SLC26A6):c.1566G>A (p.Thr522=)	SLC26A6	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 64449	NM_022911.3(SLC26A6):c.1541C>T (p.Ser514Phe)	SLC26A6 (S493F +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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Links from Gene

Items: 87