C0265274[trait identifier] AND "Illumina Laboratory Services, Illumina - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 1 to 100 of 148

<< First< Prev

Page of 2

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 907995	NM_000112.3(SLC26A2):c.-264C>T	LOC129994976, SLC26A2	Single nucleotide variant	Sulfate transporter-related osteochondrodysplasia +4 more	GUncertain significance
Select item 352012	NM_000112.3(SLC26A2):c.-256G>A	LOC129994976, SLC26A2	Single nucleotide variant	Atelosteogenesis type II +4 more	GUncertain significance
Select item 352013	NM_000112.4(SLC26A2):c.-238G>A	LOC129994976, SLC26A2	Single nucleotide variant (5 prime UTR variant)	Sulfate transporter-related osteochondrodysplasia +4 more	GUncertain significance
Select item 352014	NM_000112.4(SLC26A2):c.-235T>C	LOC129994976, SLC26A2	Single nucleotide variant (5 prime UTR variant)	Sulfate transporter-related osteochondrodysplasia +4 more	GUncertain significance
Select item 905477	NM_000112.4(SLC26A2):c.-229T>C	LOC129994976, SLC26A2	Single nucleotide variant (5 prime UTR variant)	Sulfate transporter-related osteochondrodysplasia +4 more	GUncertain significance
Select item 352015	NM_000112.4(SLC26A2):c.-223A>G	LOC129994976, SLC26A2	Single nucleotide variant (5 prime UTR variant)	Sulfate transporter-related osteochondrodysplasia +4 more	GUncertain significance
Select item 352016	NM_000112.4(SLC26A2):c.-206T>A	LOC129994976, SLC26A2	Single nucleotide variant (5 prime UTR variant)	Sulfate transporter-related osteochondrodysplasia +4 more	GUncertain significance
Select item 352017	NM_000112.4(SLC26A2):c.-183G>C	SLC26A2	Single nucleotide variant (5 prime UTR variant)	Sulfate transporter-related osteochondrodysplasia +4 more	GConflicting classifications of pathogenicity
Select item 352018	NM_000112.4(SLC26A2):c.-163T>C	SLC26A2	Single nucleotide variant (5 prime UTR variant)	Multiple epiphyseal dysplasia type 4 +4 more	GUncertain significance
Select item 352019	NM_000112.4(SLC26A2):c.-162T>C	SLC26A2	Single nucleotide variant (5 prime UTR variant)	Sulfate transporter-related osteochondrodysplasia +4 more	GUncertain significance
Select item 352020	NM_000112.4(SLC26A2):c.-40G>A	SLC26A2	Single nucleotide variant (5 prime UTR variant)	Multiple epiphyseal dysplasia type 4 +4 more	GUncertain significance
Select item 4097	NM_000112.4(SLC26A2):c.-26+2T>C	SLC26A2	Single nucleotide variant (splice donor variant)	SLC26A2-Related Disorders +7 more	GPathogenic
Select item 281118	NM_000112.4(SLC26A2):c.229A>C (p.Asn77His)	SLC26A2 (N77H)	Single nucleotide variant (missense variant)	not specified +6 more	GConflicting classifications of pathogenicity
Select item 906062	NM_000112.4(SLC26A2):c.280C>T (p.Pro94Ser)	SLC26A2 (P94S)	Single nucleotide variant (missense variant)	Sulfate transporter-related osteochondrodysplasia +4 more	GUncertain significance
Select item 4092	NM_000112.4(SLC26A2):c.532C>T (p.Arg178Ter)	SLC26A2 (R178*)	Single nucleotide variant (nonsense)	Multiple epiphyseal dysplasia type 4 +7 more	GPathogenic
Select item 352021	NM_000112.4(SLC26A2):c.655A>G (p.Ile219Val)	SLC26A2 (I219V)	Single nucleotide variant (missense variant)	Diastrophic dysplasia +7 more	GBenign/Likely benign
Select item 903691	NM_000112.4(SLC26A2):c.695A>T (p.Tyr232Phe)	SLC26A2 (Y232F)	Single nucleotide variant (missense variant)	Atelosteogenesis type II +4 more	GConflicting classifications of pathogenicity
Select item 352022	NM_000112.4(SLC26A2):c.699+13G>T	SLC26A2	Single nucleotide variant (intron variant)	Multiple epiphyseal dysplasia type 4 +4 more	GUncertain significance
Select item 905610	NM_000112.4(SLC26A2):c.710G>T (p.Gly237Val)	SLC26A2 (G237V)	Single nucleotide variant (missense variant)	Sulfate transporter-related osteochondrodysplasia +4 more	GUncertain significance
Select item 426387	NM_000112.4(SLC26A2):c.782C>G (p.Ser261Cys)	SLC26A2 (S261C)	Single nucleotide variant (missense variant)	not specified +6 more	GUncertain significance
Select item 352023	NM_000112.4(SLC26A2):c.793C>T (p.Leu265Phe)	SLC26A2 (L265F)	Single nucleotide variant (missense variant)	Multiple epiphyseal dysplasia type 4 +4 more	GUncertain significance
Select item 4089	NM_000112.4(SLC26A2):c.835C>T (p.Arg279Trp)	SLC26A2 (R279W)	Single nucleotide variant (missense variant)	3MC syndrome 2 +10 more	GPathogenic/Likely pathogenic
Select item 906128	NM_000112.4(SLC26A2):c.837G>T (p.Arg279=)	SLC26A2	Single nucleotide variant (synonymous variant)	Achondrogenesis, type IB +4 more	GConflicting classifications of pathogenicity
Select item 903770	NM_000112.4(SLC26A2):c.841A>C (p.Asn281His)	SLC26A2 (N281H)	Single nucleotide variant (missense variant)	Achondrogenesis, type IB +4 more	GUncertain significance
Select item 903771	NM_000112.4(SLC26A2):c.844G>T (p.Gly282Cys)	SLC26A2 (G282C)	Single nucleotide variant (missense variant)	Sulfate transporter-related osteochondrodysplasia +5 more	GUncertain significance
Select item 196211	NM_000112.4(SLC26A2):c.987T>C (p.Leu329=)	SLC26A2	Single nucleotide variant (synonymous variant)	Connective tissue disorder +7 more	GConflicting classifications of pathogenicity
Select item 352024	NM_000112.4(SLC26A2):c.993A>C (p.Ala331=)	SLC26A2	Single nucleotide variant (synonymous variant)	Atelosteogenesis type II +4 more	GConflicting classifications of pathogenicity
Select item 352025	NM_000112.4(SLC26A2):c.1046T>A (p.Phe349Tyr)	SLC26A2 (F349Y)	Single nucleotide variant (missense variant)	Diastrophic dysplasia +5 more	GConflicting classifications of pathogenicity
Select item 290033	NM_000112.4(SLC26A2):c.1081G>A (p.Ala361Thr)	SLC26A2 (A361T)	Single nucleotide variant (missense variant)	not provided +6 more	GConflicting classifications of pathogenicity
Select item 255130	NM_000112.4(SLC26A2):c.1194A>T (p.Val398=)	SLC26A2	Single nucleotide variant (synonymous variant)	not provided +6 more	GConflicting classifications of pathogenicity
Select item 352026	NM_000112.4(SLC26A2):c.1252A>G (p.Met418Val)	SLC26A2 (M418V)	Single nucleotide variant (missense variant)	Diastrophic dysplasia +4 more	GUncertain significance
Select item 352027	NM_000112.4(SLC26A2):c.1402C>T (p.Leu468Phe)	SLC26A2 (L468F)	Single nucleotide variant (missense variant)	Multiple epiphyseal dysplasia type 4 +4 more	GUncertain significance
Select item 281117	NM_000112.4(SLC26A2):c.1410A>G (p.Val470=)	SLC26A2	Single nucleotide variant (synonymous variant)	not provided +6 more	GBenign/Likely benign
Select item 65559	NM_000112.4(SLC26A2):c.1474C>T (p.Arg492Trp)	SLC26A2 (R492W)	Single nucleotide variant (missense variant)	Connective tissue disorder +7 more	GBenign/Likely benign
Select item 282910	NM_000112.4(SLC26A2):c.1512G>A (p.Met504Ile)	SLC26A2 (M504I)	Single nucleotide variant (missense variant)	Multiple epiphyseal dysplasia type 4 +5 more	GConflicting classifications of pathogenicity
Select item 907255	NM_000112.4(SLC26A2):c.1609T>C (p.Phe537Leu)	SLC26A2 (F537L)	Single nucleotide variant (missense variant)	Sulfate transporter-related osteochondrodysplasia +4 more	GUncertain significance
Select item 903908	NM_000112.4(SLC26A2):c.1633C>T (p.Arg545Cys)	SLC26A2 (R545C)	Single nucleotide variant (missense variant)	Achondrogenesis, type IB +4 more	GUncertain significance
Select item 56016	NM_000112.4(SLC26A2):c.1650del (p.Ser551fs)	SLC26A2 (S551fs)	Deletion (frameshift variant)	Achondrogenesis, type IB +6 more	GConflicting classifications of pathogenicity
Select item 196209	NM_000112.4(SLC26A2):c.1721T>C (p.Ile574Thr)	SLC26A2 (I574T)	Single nucleotide variant (missense variant)	not specified +7 more	GBenign
Select item 352028	NM_000112.4(SLC26A2):c.1744C>T (p.Arg582Cys)	SLC26A2 (R582C)	Single nucleotide variant (missense variant)	Achondrogenesis, type IB +4 more	GUncertain significance
Select item 906305	NM_000112.4(SLC26A2):c.1745G>A (p.Arg582His)	SLC26A2 (R582H)	Single nucleotide variant (missense variant)	Achondrogenesis, type IB +4 more	GUncertain significance
Select item 352029	NM_000112.4(SLC26A2):c.1761C>G (p.Leu587=)	SLC26A2	Single nucleotide variant (synonymous variant)	Achondrogenesis, type IB +4 more	GConflicting classifications of pathogenicity
Select item 255131	NM_000112.4(SLC26A2):c.1761C>T (p.Leu587=)	SLC26A2	Single nucleotide variant (synonymous variant)	Achondrogenesis, type IB +5 more	GConflicting classifications of pathogenicity
Select item 903979	NM_000112.4(SLC26A2):c.1786A>G (p.Lys596Glu)	SLC26A2 (K596E)	Single nucleotide variant (missense variant)	Achondrogenesis, type IB +4 more	GUncertain significance
Select item 550616	NM_000112.4(SLC26A2):c.1987G>A (p.Gly663Arg)	SLC26A2 (G663R)	Single nucleotide variant (missense variant)	SLC26A2-Related Disorders +5 more	GConflicting classifications of pathogenicity
Select item 352030	NM_000112.4(SLC26A2):c.2021A>G (p.Tyr674Cys)	SLC26A2 (Y674C)	Single nucleotide variant (missense variant)	Diastrophic dysplasia +5 more	GUncertain significance
Select item 255132	NM_000112.4(SLC26A2):c.2046G>A (p.Leu682=)	SLC26A2	Single nucleotide variant (synonymous variant)	Achondrogenesis, type IB +5 more	GConflicting classifications of pathogenicity
Select item 65560	NM_000112.4(SLC26A2):c.2065A>T (p.Thr689Ser)	SLC26A2 (T689S)	Single nucleotide variant (missense variant)	Connective tissue disorder +7 more	GBenign/Likely benign
Select item 352031	NM_000112.4(SLC26A2):c.2129A>G (p.Tyr710Cys)	SLC26A2 (Y710C)	Single nucleotide variant (missense variant)	Diastrophic dysplasia +4 more	GConflicting classifications of pathogenicity
Select item 352032	NM_000112.4(SLC26A2):c.2145G>A (p.Ala715=)	SLC26A2	Single nucleotide variant (synonymous variant)	Atelosteogenesis type II +4 more	GConflicting classifications of pathogenicity
Select item 904046	NM_000112.4(SLC26A2):c.2181A>T (p.Gly727=)	SLC26A2	Single nucleotide variant (synonymous variant)	Multiple epiphyseal dysplasia type 4 +4 more	GConflicting classifications of pathogenicity
Select item 255133	NM_000112.4(SLC26A2):c.2220A>G (p.Ter740=)	SLC26A2	Single nucleotide variant (synonymous variant)	not specified +7 more	GBenign/Likely benign
Select item 352033	NM_000112.4(SLC26A2):c.*53C>G	SLC26A2	Single nucleotide variant (3 prime UTR variant)	Multiple epiphyseal dysplasia type 4 +4 more	GUncertain significance
Select item 904825	NM_000112.4(SLC26A2):c.*182C>G	SLC26A2	Single nucleotide variant (3 prime UTR variant)	Multiple epiphyseal dysplasia type 4 +4 more	GUncertain significance
Select item 906435	NM_000112.4(SLC26A2):c.*204C>T	SLC26A2	Single nucleotide variant (3 prime UTR variant)	Sulfate transporter-related osteochondrodysplasia +4 more	GUncertain significance
Select item 352034	NM_000112.4(SLC26A2):c.*205G>A	SLC26A2	Single nucleotide variant (3 prime UTR variant)	Sulfate transporter-related osteochondrodysplasia +4 more	GConflicting classifications of pathogenicity
Select item 352035	NM_000112.4(SLC26A2):c.*216T>G	SLC26A2	Single nucleotide variant (3 prime UTR variant)	Multiple epiphyseal dysplasia type 4 +4 more	GUncertain significance
Select item 904112	NM_000112.4(SLC26A2):c.*220T>A	SLC26A2	Single nucleotide variant (3 prime UTR variant)	Achondrogenesis, type IB +4 more	GUncertain significance
Select item 352036	NM_000112.4(SLC26A2):c.*264C>G	SLC26A2	Single nucleotide variant (3 prime UTR variant)	Sulfate transporter-related osteochondrodysplasia +4 more	GUncertain significance
Select item 352037	NM_000112.4(SLC26A2):c.*300C>T	SLC26A2	Single nucleotide variant (3 prime UTR variant)	Achondrogenesis, type IB +4 more	GUncertain significance
Select item 352038	NM_000112.4(SLC26A2):c.*330G>T	SLC26A2	Single nucleotide variant (3 prime UTR variant)	Atelosteogenesis type II +5 more	GConflicting classifications of pathogenicity
Select item 352039	NM_000112.4(SLC26A2):c.*394T>A	SLC26A2	Single nucleotide variant (3 prime UTR variant)	Achondrogenesis, type IB +4 more	GBenign/Likely benign
Select item 907497	NM_000112.4(SLC26A2):c.*443T>C	SLC26A2	Single nucleotide variant (3 prime UTR variant)	Sulfate transporter-related osteochondrodysplasia +4 more	GConflicting classifications of pathogenicity
Select item 352040	NM_000112.4(SLC26A2):c.*453G>A	SLC26A2	Single nucleotide variant (3 prime UTR variant)	Diastrophic dysplasia +4 more	GUncertain significance
Select item 352041	NM_000112.4(SLC26A2):c.*590C>T	SLC26A2	Single nucleotide variant (3 prime UTR variant)	Atelosteogenesis type II +5 more	GBenign
Select item 352042	NM_000112.4(SLC26A2):c.*600G>T	SLC26A2	Single nucleotide variant (3 prime UTR variant)	Diastrophic dysplasia +5 more	GBenign/Likely benign
Select item 904950	NM_000112.4(SLC26A2):c.*693G>T	SLC26A2	Single nucleotide variant (3 prime UTR variant)	Multiple epiphyseal dysplasia type 4 +4 more	GUncertain significance
Select item 906544	NM_000112.4(SLC26A2):c.*834T>C	SLC26A2	Single nucleotide variant (3 prime UTR variant)	Sulfate transporter-related osteochondrodysplasia +4 more	GUncertain significance
Select item 352043	NM_000112.4(SLC26A2):c.*896A>G	SLC26A2	Single nucleotide variant (3 prime UTR variant)	Sulfate transporter-related osteochondrodysplasia +4 more	GUncertain significance
Select item 352044	NM_000112.4(SLC26A2):c.*938T>C	SLC26A2	Single nucleotide variant (3 prime UTR variant)	Atelosteogenesis type II +4 more	GBenign/Likely benign
Select item 352045	NM_000112.4(SLC26A2):c.*974C>G	SLC26A2	Single nucleotide variant (3 prime UTR variant)	Diastrophic dysplasia +4 more	GUncertain significance
Select item 352046	NM_000112.4(SLC26A2):c.*1024T>G	SLC26A2	Single nucleotide variant (3 prime UTR variant)	Sulfate transporter-related osteochondrodysplasia +4 more	GBenign
Select item 905016	NM_000112.4(SLC26A2):c.*1032G>T	SLC26A2	Single nucleotide variant (3 prime UTR variant)	Diastrophic dysplasia +4 more	GUncertain significance
Select item 906598	NM_000112.4(SLC26A2):c.*1040T>C	SLC26A2	Single nucleotide variant (3 prime UTR variant)	Sulfate transporter-related osteochondrodysplasia +4 more	GUncertain significance
Select item 906599	NM_000112.4(SLC26A2):c.*1071G>A	SLC26A2	Single nucleotide variant (3 prime UTR variant)	Sulfate transporter-related osteochondrodysplasia +4 more	GUncertain significance
Select item 352047	NM_000112.4(SLC26A2):c.*1146G>T	SLC26A2	Single nucleotide variant (3 prime UTR variant)	Diastrophic dysplasia +4 more	GUncertain significance
Select item 904284	NM_000112.4(SLC26A2):c.*1260C>T	SLC26A2	Single nucleotide variant (3 prime UTR variant)	Diastrophic dysplasia +4 more	GUncertain significance
Select item 904285	NM_000112.4(SLC26A2):c.*1376T>G	SLC26A2	Single nucleotide variant (3 prime UTR variant)	Achondrogenesis, type IB +4 more	GUncertain significance
Select item 352050	NM_000112.4(SLC26A2):c.*1427G>A	SLC26A2	Single nucleotide variant (3 prime UTR variant)	Diastrophic dysplasia +4 more	GUncertain significance
Select item 352051	NM_000112.4(SLC26A2):c.*1543C>T	SLC26A2	Single nucleotide variant (3 prime UTR variant)	Diastrophic dysplasia +4 more	GUncertain significance
Select item 352052	NM_000112.4(SLC26A2):c.*1552G>C	SLC26A2	Single nucleotide variant (3 prime UTR variant)	Sulfate transporter-related osteochondrodysplasia +4 more	GBenign/Likely benign
Select item 907698	NM_000112.4(SLC26A2):c.*1588T>C	SLC26A2	Single nucleotide variant (3 prime UTR variant)	Sulfate transporter-related osteochondrodysplasia +4 more	GUncertain significance
Select item 352053	NM_000112.4(SLC26A2):c.*1631C>T	SLC26A2	Single nucleotide variant (3 prime UTR variant)	Sulfate transporter-related osteochondrodysplasia +4 more	GBenign
Select item 904362	NM_000112.4(SLC26A2):c.*1935T>A	SLC26A2	Single nucleotide variant (3 prime UTR variant)	Atelosteogenesis type II +4 more	GUncertain significance
Select item 352055	NM_000112.4(SLC26A2):c.*1970G>T	SLC26A2	Single nucleotide variant (3 prime UTR variant)	Atelosteogenesis type II +4 more	GConflicting classifications of pathogenicity
Select item 352056	NM_000112.4(SLC26A2):c.*2003A>G	SLC26A2	Single nucleotide variant (3 prime UTR variant)	Diastrophic dysplasia +4 more	GUncertain significance
Select item 352057	NM_000112.4(SLC26A2):c.*2176A>G	SLC26A2	Single nucleotide variant (3 prime UTR variant)	Achondrogenesis, type IB +4 more	GUncertain significance
Select item 906750	NM_000112.4(SLC26A2):c.*2212T>G	SLC26A2	Single nucleotide variant (3 prime UTR variant)	Sulfate transporter-related osteochondrodysplasia +4 more	GUncertain significance
Select item 352058	NM_000112.4(SLC26A2):c.*2226C>T	SLC26A2	Single nucleotide variant (3 prime UTR variant)	Diastrophic dysplasia +5 more	GBenign
Select item 904422	NM_000112.4(SLC26A2):c.*2232A>T	SLC26A2	Single nucleotide variant (3 prime UTR variant)	Multiple epiphyseal dysplasia type 4 +4 more	GUncertain significance
Select item 904423	NM_000112.4(SLC26A2):c.*2265C>T	SLC26A2	Single nucleotide variant (3 prime UTR variant)	Multiple epiphyseal dysplasia type 4 +4 more	GUncertain significance
Select item 352059	NM_000112.4(SLC26A2):c.*2289T>C	SLC26A2	Single nucleotide variant (3 prime UTR variant)	Achondrogenesis, type IB +4 more	GUncertain significance
Select item 352060	NM_000112.4(SLC26A2):c.*2330C>T	SLC26A2	Single nucleotide variant (3 prime UTR variant)	Achondrogenesis, type IB +4 more	GUncertain significance
Select item 352061	NM_000112.4(SLC26A2):c.*2357T>C	SLC26A2	Single nucleotide variant (3 prime UTR variant)	Achondrogenesis, type IB +4 more	GUncertain significance
Select item 352062	NM_000112.4(SLC26A2):c.*2443A>G	SLC26A2	Single nucleotide variant (3 prime UTR variant)	Achondrogenesis, type IB +4 more	GUncertain significance
Select item 352063	NM_000112.4(SLC26A2):c.*2470T>G	SLC26A2	Single nucleotide variant (3 prime UTR variant)	Atelosteogenesis type II +4 more	GUncertain significance
Select item 904488	NM_000112.4(SLC26A2):c.*2476T>C	SLC26A2	Single nucleotide variant (3 prime UTR variant)	Diastrophic dysplasia +4 more	GConflicting classifications of pathogenicity
Select item 352064	NM_000112.4(SLC26A2):c.*2603T>C	SLC26A2	Single nucleotide variant (3 prime UTR variant)	Achondrogenesis, type IB +4 more	GUncertain significance
Select item 352065	NM_000112.4(SLC26A2):c.*2612C>T	SLC26A2	Single nucleotide variant (3 prime UTR variant)	Atelosteogenesis type II +5 more	GBenign/Likely benign
Select item 352066	NM_000112.4(SLC26A2):c.*2617C>T	SLC26A2	Single nucleotide variant (3 prime UTR variant)	Atelosteogenesis type II +5 more	GBenign/Likely benign

<< First< Prev

Page of 2