SLC12A8[gene] - ClinVar

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Items: 77

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154258	GRCh38/hg38 3q11.1-24(chr3:93800620-145695381)x3	LOC129937446, LOC129937447 +1343 more	Copy number gain	See cases	GPathogenic
Select item 145614	GRCh38/hg38 3q13.11-29(chr3:103426882-198110178)x3	LOC129937268, LOC129937269 +2645 more	Copy number gain	See cases	GPathogenic
Select item 150138	GRCh38/hg38 3q13.2-21.3(chr3:112620977-128734134)x1	ABTB1, ADCY5 +570 more	Copy number loss	See cases	GPathogenic
Select item 155628	GRCh38/hg38 3q13.32-21.3(chr3:118673898-126540730)x1	ADCY5, ADPRH +326 more	Copy number loss	See cases	GPathogenic
Select item 57806	GRCh38/hg38 3q13.32-21.2(chr3:119117166-125920734)x1	LOC126806792, LOC126806793 +291 more	Copy number loss	See cases	GPathogenic
Select item 57829	GRCh38/hg38 3q13.33-21.2(chr3:121644209-125676353)x1	ADCY5, CASR +182 more	Copy number loss	See cases	GPathogenic
Select item 152210	GRCh38/hg38 3q13.33-21.3(chr3:121925147-126782249)x1	ADCY5, ALDH1L1 +214 more	Copy number loss	See cases	GPathogenic
Select item 3162905	NM_024628.6(SLC12A8):c.2120G>A (p.Arg707Gln)	SLC12A8 (R707Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2535591	NM_024628.6(SLC12A8):c.2093G>C (p.Arg698Pro)	SLC12A8 (R698P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2409775	NM_024628.6(SLC12A8):c.2080G>A (p.Ala694Thr)	SLC12A8 (A694T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2281156	NM_024628.6(SLC12A8):c.2048T>A (p.Met683Lys)	SLC12A8 (M683K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2525001	NM_024628.6(SLC12A8):c.2044G>C (p.Glu682Gln)	SLC12A8 (E682Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2385510	NM_024628.6(SLC12A8):c.2018C>T (p.Ala673Val)	SLC12A8 (A673V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2293820	NM_024628.6(SLC12A8):c.2006A>T (p.Gln669Leu)	SLC12A8 (Q669L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2221748	NM_024628.6(SLC12A8):c.1949G>A (p.Arg650Gln)	SLC12A8 (R650Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3162904	NM_024628.6(SLC12A8):c.1909G>C (p.Gly637Arg)	SLC12A8 (G637R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2476958	NM_024628.6(SLC12A8):c.1900G>A (p.Ala634Thr)	SLC12A8 (A634T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2398635	NM_024628.6(SLC12A8):c.1897C>T (p.Arg633Trp)	SLC12A8 (R633W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2257396	NM_024628.6(SLC12A8):c.1850C>A (p.Thr617Asn)	SLC12A8 (T617N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2335271	NM_024628.6(SLC12A8):c.1789G>A (p.Val597Ile)	SLC12A8 (V597I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2526388	NM_024628.6(SLC12A8):c.1763T>C (p.Phe588Ser)	SLC12A8 (F588S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2331302	NM_024628.6(SLC12A8):c.1757C>T (p.Thr586Ile)	SLC12A8 (T586I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2532862	NM_024628.6(SLC12A8):c.1734A>T (p.Glu578Asp)	SLC12A8 (E578D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2233558	NM_024628.6(SLC12A8):c.1697G>A (p.Ser566Asn)	SLC12A8 (S566N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2602699	NM_024628.6(SLC12A8):c.1688C>T (p.Ser563Leu)	SLC12A8 (S563L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2517059	NM_024628.6(SLC12A8):c.1627G>A (p.Glu543Lys)	SLC12A8 (E543K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2487581	NM_024628.6(SLC12A8):c.1606A>G (p.Asn536Asp)	SLC12A8 (N536D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2616018	NM_024628.6(SLC12A8):c.1563C>G (p.Asp521Glu)	SLC12A8 (D521E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2291581	NM_024628.6(SLC12A8):c.1532C>A (p.Ser511Tyr)	SLC12A8 (S511Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2551881	NM_024628.6(SLC12A8):c.1522G>A (p.Asp508Asn)	SLC12A8 (D508N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2324757	NM_024628.6(SLC12A8):c.1346G>A (p.Arg449Lys)	SLC12A8 (R449K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2292729	NM_024628.6(SLC12A8):c.1342C>A (p.Gln448Lys)	SLC12A8 (Q448K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2271552	NM_024628.6(SLC12A8):c.1291G>A (p.Glu431Lys)	SLC12A8 (E431K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3162902	NM_024628.6(SLC12A8):c.1270G>A (p.Ala424Thr)	SLC12A8 (A424T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2456666	NM_024628.6(SLC12A8):c.1186G>A (p.Val396Ile)	SLC12A8 (V396I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2348328	NM_024628.6(SLC12A8):c.1081G>A (p.Val361Met)	SLC12A8 (V361M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3162901	NM_024628.6(SLC12A8):c.1012A>G (p.Ile338Val)	SLC12A8 (I338V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2461027	NM_024628.6(SLC12A8):c.998G>A (p.Arg333His)	SLC12A8 (R333H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2552540	NM_024628.6(SLC12A8):c.980G>A (p.Gly327Glu)	SLC12A8 (G327E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3162913	NM_024628.6(SLC12A8):c.903A>G (p.Ile301Met)	SLC12A8 (I301M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2305655	NM_024628.6(SLC12A8):c.883C>T (p.Leu295Phe)	SLC12A8 (L295F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3162911	NM_024628.6(SLC12A8):c.748G>A (p.Gly250Ser)	SLC12A8 (G250S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3162910	NM_024628.6(SLC12A8):c.686C>T (p.Pro229Leu)	SLC12A8 (P229L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2360734	NM_024628.6(SLC12A8):c.580A>C (p.Thr194Pro)	SLC12A8 (T194P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2292493	NM_024628.6(SLC12A8):c.574G>C (p.Val192Leu)	SLC12A8 (V192L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2408053	NM_024628.6(SLC12A8):c.542G>A (p.Arg181His)	SLC12A8 (R181H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2592739	NM_024628.6(SLC12A8):c.488C>T (p.Ala163Val)	SLC12A8 (A163V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2407763	NM_024628.6(SLC12A8):c.484G>C (p.Val162Leu)	SLC12A8 (V162L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3162909	NM_024628.6(SLC12A8):c.473G>A (p.Arg158Gln)	SLC12A8 (R158Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2592841	NM_024628.6(SLC12A8):c.454G>A (p.Gly152Arg)	SLC12A8 (G152R)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2593720	NM_024628.6(SLC12A8):c.362C>T (p.Thr121Ile)	SLC12A8 (T121I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2461350	NM_024628.6(SLC12A8):c.362C>A (p.Thr121Asn)	SLC12A8 (T121N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3162908	NM_024628.6(SLC12A8):c.347G>C (p.Gly116Ala)	SLC12A8 (G116A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2395955	NM_024628.6(SLC12A8):c.335C>T (p.Ser112Leu)	SLC12A8 (S112L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2212255	NM_024628.6(SLC12A8):c.325A>G (p.Met109Val)	SLC12A8 (M109V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2240261	NM_024628.6(SLC12A8):c.316G>T (p.Val106Phe)	SLC12A8 (V106F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3162907	NM_024628.6(SLC12A8):c.310G>A (p.Gly104Ser)	SLC12A8 (G104S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3162906	NM_024628.6(SLC12A8):c.309C>A (p.Ser103Arg)	SLC12A8 (S103R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2362527	NM_024628.6(SLC12A8):c.293G>A (p.Arg98His)	SLC12A8 (R98H)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2408381	NM_024628.6(SLC12A8):c.263C>T (p.Thr88Met)	SLC12A8 (T88M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2401265	NM_024628.6(SLC12A8):c.251T>C (p.Val84Ala)	SLC12A8 (V84A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2382256	NM_024628.6(SLC12A8):c.175T>G (p.Phe59Val)	SLC12A8 (F59V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2385176	NM_024628.6(SLC12A8):c.136T>A (p.Phe46Ile)	SLC12A8 (F46I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2399167	NM_024628.6(SLC12A8):c.100T>A (p.Trp34Arg)	SLC12A8 (W34R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3162912	NM_024628.6(SLC12A8):c.77G>T (p.Trp26Leu)	SLC12A8 (W26L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2232331	NM_024628.6(SLC12A8):c.62C>G (p.Ala21Gly)	SLC12A8 (A21G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062736	GRCh37/hg19 3q21.2-21.3(chr3:124119718-127457671)x1	ABTB1, ALDH1L1 +26 more	Copy number loss	not specified	GUncertain significance
Select item 2427161	NC_000003.11:g.(?_123003455)_(125313644_?)dup	ADCY5, CCDC14 +12 more	Duplication	Aortic aneurysm, familial thoracic 7	GUncertain significance
Select item 2423002	NC_000003.11:g.(?_121489192)_(125313644_?)dup	ADCY5, CASR +32 more	Duplication	Autosomal dominant hypocalcemia 1 +1 more	GUncertain significance
Select item 1807815	GRCh37/hg19 3q13.31-26.31(chr3:116620308-172042292)x3	A4GNT, AADAC +303 more	Copy number gain	not provided	GPathogenic
Select item 1452099	NC_000003.11:g.(?_120365818)_(133465047_?)del	KALRN, KBTBD12 +109 more	Deletion	Alkaptonuria	GPathogenic
Select item 1183991	Single allele	ABTB1, ACAD9 +59 more	Deletion	Deafness-lymphedema-leukemia syndrome +1 more	GPathogenic
Select item 1183989	Single allele	ABTB1, ADCY5 +69 more	Deletion	Deafness-lymphedema-leukemia syndrome +1 more	GPathogenic
Select item 625698	GRCh37/hg19 3q21.2-21.3(chr3:124369671-126423192)	ALDH1L1, C3orf22 +19 more	Copy number loss	not provided	GLikely pathogenic
Select item 562814	GRCh37/hg19 3q21.1-21.2(chr3:122698091-125036994)x1	HEG1, SEMA5B +13 more	Copy number loss	not provided	GUncertain significance
Select item 442401	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3	A4GNT, AADAC +1054 more	Copy number gain	See cases	GPathogenic
Select item 442400	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)	CMTM6, CMTM7 +1054 more	Copy number gain	See cases	GPathogenic

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Items: 77