SLC5A12[gene] - ClinVar

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Items: 65

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154432	GRCh38/hg38 11p15.1-13(chr11:20079474-34463996)x1	ABTB2, ANO3 +283 more	Copy number loss	See cases	GPathogenic
Select item 148783	GRCh38/hg38 11p15.1-14.2(chr11:21838014-26738627)x3	LOC126861164, LOC126861165 +49 more	Copy number gain	See cases	GUncertain significance
Select item 58858	GRCh38/hg38 11p14.3-12(chr11:22550115-38199159)x1	PAX6_HS3, PAX6_HS8 +334 more	Copy number loss	See cases	GPathogenic
Select item 148655	GRCh38/hg38 11p14.3-14.1(chr11:23024064-27978597)x1	ANO3, ANO3-AS1 +47 more	Copy number loss	See cases	GLikely pathogenic
Select item 145522	GRCh38/hg38 11p14.3-13(chr11:24595399-31096539)x3	ANO3, ANO3-AS1 +71 more	Copy number gain	See cases	GPathogenic
Select item 145969	GRCh38/hg38 11p14.2-13(chr11:26368962-35252976)x1	LOC129390275, LOC129390276 +255 more	Copy number loss	See cases	GPathogenic
Select item 149943	GRCh38/hg38 11p14.2-14.1(chr11:26555328-27307056)x1	ANO3, BBOX1 +10 more	Copy number loss	See cases	GUncertain significance
Select item 2271990	NM_178498.4(SLC5A12):c.1820G>T (p.Ser607Ile)	SLC5A12 (S607I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2459949	NM_178498.4(SLC5A12):c.1808C>T (p.Pro603Leu)	SLC5A12 (P603L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3165216	NM_178498.4(SLC5A12):c.1753G>C (p.Val585Leu)	SLC5A12 (V585L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3320038	NM_178498.4(SLC5A12):c.1693A>G (p.Ser565Gly)	SLC5A12 (S565G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2590692	NM_178498.4(SLC5A12):c.1673G>C (p.Trp558Ser)	SLC5A12 (W558S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2523071	NM_178498.4(SLC5A12):c.1619G>A (p.Arg540Lys)	SLC5A12 (R540K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2564834	NM_178498.4(SLC5A12):c.1582C>T (p.Arg528Cys)	SLC5A12 (R528C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2462039	NM_178498.4(SLC5A12):c.1573A>G (p.Ile525Val)	SLC5A12 (I525V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2247849	NM_178498.4(SLC5A12):c.1490A>G (p.Asp497Gly)	SLC5A12 (D497G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2389460	NM_178498.4(SLC5A12):c.1407G>C (p.Leu469Phe)	SLC5A12 (L469F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3165215	NM_178498.4(SLC5A12):c.1388C>G (p.Ala463Gly)	SLC5A12 (A463G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2616238	NM_178498.4(SLC5A12):c.1364G>T (p.Gly455Val)	SLC5A12 (G455V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2396628	NM_178498.4(SLC5A12):c.1361T>C (p.Ile454Thr)	SLC5A12 (I454T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3320033	NM_178498.4(SLC5A12):c.1312G>A (p.Ala438Thr)	SLC5A12 (A438T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3320035	NM_178498.4(SLC5A12):c.1277T>A (p.Leu426Gln)	SLC5A12 (L426Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2555363	NM_178498.4(SLC5A12):c.1172T>C (p.Met391Thr)	LOC126861169, SLC5A12 (M391T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3165213	NM_178498.4(SLC5A12):c.1120G>A (p.Asp374Asn)	SLC5A12 (D374N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3165212	NM_178498.4(SLC5A12):c.1013T>C (p.Val338Ala)	SLC5A12 (V338A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3320036	NM_178498.4(SLC5A12):c.869C>T (p.Ala290Val)	SLC5A12 (A290V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2348618	NM_178498.4(SLC5A12):c.829T>C (p.Tyr277His)	SLC5A12 (Y277H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3165223	NM_178498.4(SLC5A12):c.710C>G (p.Thr237Ser)	SLC5A12 (T237S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3165222	NM_178498.4(SLC5A12):c.695C>A (p.Pro232His)	SLC5A12 (P232H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2331631	NM_178498.4(SLC5A12):c.644A>C (p.Glu215Ala)	SLC5A12 (E215A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2480315	NM_178498.4(SLC5A12):c.601A>G (p.Ile201Val)	SLC5A12 (I201V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3320030	NM_178498.4(SLC5A12):c.505T>A (p.Cys169Ser)	SLC5A12 (C169S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3165221	NM_178498.4(SLC5A12):c.472C>A (p.Leu158Ile)	SLC5A12 (L158I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2600517	NM_178498.4(SLC5A12):c.452A>G (p.Asn151Ser)	SLC5A12 (N151S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3165219	NM_178498.4(SLC5A12):c.404C>T (p.Thr135Met)	SLC5A12 (T135M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3320031	NM_178498.4(SLC5A12):c.322A>G (p.Ile108Val)	SLC5A12 (I108V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2338514	NM_178498.4(SLC5A12):c.284C>T (p.Thr95Ile)	SLC5A12 (T95I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3320034	NM_178498.4(SLC5A12):c.269T>C (p.Phe90Ser)	SLC5A12 (F90S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3320029	NM_178498.4(SLC5A12):c.226C>T (p.Arg76Cys)	SLC5A12 (R76C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3165217	NM_178498.4(SLC5A12):c.193G>A (p.Val65Ile)	SLC5A12 (V65I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3165214	NM_178498.4(SLC5A12):c.133G>A (p.Gly45Arg)	SLC5A12 (G45R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3165225	NM_178498.4(SLC5A12):c.95A>C (p.Glu32Ala)	SLC5A12 (E32A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2325669	NM_178498.4(SLC5A12):c.95A>G (p.Glu32Gly)	SLC5A12 (E32G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3165224	NM_178498.4(SLC5A12):c.93G>T (p.Lys31Asn)	SLC5A12 (K31N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2332686	NM_178498.4(SLC5A12):c.76G>T (p.Val26Leu)	SLC5A12 (V26L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2396931	NM_178498.4(SLC5A12):c.43G>C (p.Ala15Pro)	SLC5A12 (A15P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3320037	NM_178498.4(SLC5A12):c.31T>C (p.Tyr11His)	SLC5A12 (Y11H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3165218	NM_178498.4(SLC5A12):c.28G>T (p.Asp10Tyr)	SLC5A12 (D10Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2685400	GRCh37/hg19 11p14.3-14.1(chr11:25454219-27238107)x1	ANO3, BBOX1 +3 more	Copy number loss	not provided	GUncertain significance
Select item 1707435	GRCh37/hg19 11p15.5-14.2(chr11:230615-26881146)x3	CYP2R1, DBX1 +308 more	Copy number gain	See cases	GPathogenic
Select item 997825	Single allele	MMP13, MMP20 +904 more	Deletion	Intellectual disability	GPathogenic
Select item 815421	GRCh37/hg19 11p14.3-14.2(chr11:24481150-26700185)x1	SLC5A12, LUZP2 +2 more	Copy number loss	not provided	GUncertain significance
Select item 815411	GRCh37/hg19 11p15.2-14.1(chr11:13970757-27565888)x3	LDHA, SLC5A12 +67 more	Copy number gain	not provided	GPathogenic
Select item 815410	GRCh37/hg19 11p15.3-13(chr11:11053978-34732891)x3	DKK3, DNAJC24 +116 more	Copy number gain	not provided	GPathogenic
Select item 815395	GRCh37/hg19 11p15.5-13(chr11:235934-33826995)x3	CALCB, CARS1 +343 more	Copy number gain	not provided	GPathogenic
Select item 688898	GRCh37/hg19 11p14.3-13(chr11:22079154-35597645)x1	ABTB2, ANO3 +55 more	Copy number loss	not provided	GPathogenic
Select item 685919	GRCh37/hg19 11p14.2(chr11:26513747-26688739)x1	ANO3, MUC15 +1 more	Copy number loss	not provided	GUncertain significance
Select item 563874	GRCh37/hg19 11p14.3-14.1(chr11:25090108-28909131)x3	BBOX1, CCDC34 +12 more	Copy number gain	not provided	GUncertain significance
Select item 441985	GRCh37/hg19 11p15.5-13(chr11:230615-31995219)x3	DEAF1, DENND2B +327 more	Copy number gain	See cases	GPathogenic
Select item 441904	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)	AAMDC, AASDHPPT +1289 more	Copy number gain	See cases	GPathogenic
Select item 441903	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3	SLC37A4, SNORD26 +1289 more	Copy number gain	See cases	GPathogenic
Select item 441893	GRCh37/hg19 11p14.3-13(chr11:25771208-35614978)x1	ABTB2, ANO3 +48 more	Copy number loss	See cases	GPathogenic
Select item 441715	GRCh37/hg19 11p15.5-12(chr11:230615-37698540)x3	ART5, CCDC34 +364 more	Copy number gain	See cases	GPathogenic
Select item 376759	GRCh37/hg19 11p15.1-13(chr11:21586131-33168232)x1	KCNA4, KIF18A +39 more	Copy number loss	Wilms tumor, aniridia, genitourinary anomalies, intellectual disability, and obesity syndrome	GPathogenic
Select item 376757	GRCh37/hg19 11p15.1-13(chr11:18536224-31923308)x1	DCDC1, DNAJC24 +44 more	Copy number loss	Aniridia 1	GPathogenic

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Items: 65