C1850554[trait identifier] AND "Baylor Genetics"[submitter] - ClinVar

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Items: 58

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 4097	NM_000112.4(SLC26A2):c.-26+2T>C	SLC26A2	Single nucleotide variant (splice donor variant)	Atelosteogenesis type II +7 more	GPathogenic
Select item 56026	NM_000112.4(SLC26A2):c.55G>T (p.Gly19Ter)	SLC26A2 (G19*)	Single nucleotide variant (nonsense)	Multiple epiphyseal dysplasia type 4 +4 more	GPathogenic/Likely pathogenic
Select item 371772	NM_000112.4(SLC26A2):c.185C>G (p.Ser62Ter)	SLC26A2 (S62*)	Single nucleotide variant (nonsense)	Achondrogenesis, type IB +3 more	GLikely pathogenic
Select item 2106147	NM_000112.4(SLC26A2):c.214A>T (p.Lys72Ter)	SLC26A2 (K72*)	Single nucleotide variant (nonsense)	Achondrogenesis, type IB +3 more	GPathogenic/Likely pathogenic
Select item 976051	NM_000112.4(SLC26A2):c.235C>T (p.Gln79Ter)	SLC26A2 (Q79*)	Single nucleotide variant (nonsense)	Achondrogenesis, type IB +3 more	GPathogenic/Likely pathogenic
Select item 2678884	NM_000112.4(SLC26A2):c.294G>A (p.Trp98Ter)	SLC26A2 (W98*)	Single nucleotide variant (nonsense)	Achondrogenesis, type IB +3 more	GPathogenic/Likely pathogenic
Select item 656557	NM_000112.4(SLC26A2):c.438dup (p.Ala147fs)	SLC26A2 (A147fs)	Duplication (frameshift variant)	Atelosteogenesis type II +3 more	GPathogenic/Likely pathogenic
Select item 189077	NM_000112.4(SLC26A2):c.451del (p.Tyr151fs)	SLC26A2 (Y151fs)	Deletion (frameshift variant)	Sulfate transporter-related osteochondrodysplasia +4 more	GPathogenic/Likely pathogenic
Select item 371777	NM_000112.4(SLC26A2):c.485_486del (p.Val162fs)	SLC26A2 (V162fs)	Microsatellite (frameshift variant)	Sulfate transporter-related osteochondrodysplasia +5 more	GPathogenic/Likely pathogenic
Select item 4092	NM_000112.4(SLC26A2):c.532C>T (p.Arg178Ter)	SLC26A2 (R178*)	Single nucleotide variant (nonsense)	Diastrophic dysplasia +7 more	GPathogenic
Select item 553407	NM_000112.4(SLC26A2):c.578_581del (p.Pro192_Ser193insTer)	SLC26A2	Microsatellite (nonsense)	Achondrogenesis, type IB +3 more	GPathogenic/Likely pathogenic
Select item 655153	NM_000112.4(SLC26A2):c.697C>T (p.Gln233Ter)	SLC26A2 (Q233*)	Single nucleotide variant (nonsense)	Achondrogenesis, type IB +3 more	GPathogenic/Likely pathogenic
Select item 56027	NM_000112.4(SLC26A2):c.700-1G>C	SLC26A2	Single nucleotide variant (splice acceptor variant)	Multiple epiphyseal dysplasia type 4 +4 more	GPathogenic/Likely pathogenic
Select item 56028	NM_000112.4(SLC26A2):c.705_711del (p.Met236fs)	SLC26A2 (M236fs)	Deletion (frameshift variant)	Multiple epiphyseal dysplasia type 4 +3 more	GPathogenic/Likely pathogenic
Select item 371773	NM_000112.4(SLC26A2):c.736_739del (p.Val246fs)	SLC26A2 (V246fs)	Deletion (frameshift variant)	Multiple epiphyseal dysplasia type 4 +3 more	GPathogenic/Likely pathogenic
Select item 371761	NM_000112.4(SLC26A2):c.746C>G (p.Ser249Ter)	SLC26A2 (S249*)	Single nucleotide variant (nonsense)	Diastrophic dysplasia +3 more	GPathogenic/Likely pathogenic
Select item 552411	NM_000112.4(SLC26A2):c.767T>C (p.Phe256Ser)	SLC26A2 (F256S)	Single nucleotide variant (missense variant)	Achondrogenesis, type IB +4 more	GConflicting classifications of pathogenicity
Select item 935588	NM_000112.4(SLC26A2):c.819del (p.Leu275fs)	SLC26A2 (L275fs)	Deletion (frameshift variant)	Achondrogenesis, type IB +3 more	GPathogenic
Select item 4089	NM_000112.4(SLC26A2):c.835C>T (p.Arg279Trp)	SLC26A2 (R279W)	Single nucleotide variant (missense variant)	not specified +10 more	GPathogenic/Likely pathogenic
Select item 2678888	NM_000112.4(SLC26A2):c.854C>A (p.Ser285Ter)	SLC26A2 (S285*)	Single nucleotide variant (nonsense)	Achondrogenesis, type IB +3 more	GPathogenic/Likely pathogenic
Select item 56029	NM_000112.4(SLC26A2):c.906_907del (p.Leu302_Cys303insTer)	SLC26A2	Microsatellite (frameshift variant)	Multiple epiphyseal dysplasia type 4 +3 more	GPathogenic/Likely pathogenic
Select item 1995802	NM_000112.4(SLC26A2):c.909T>A (p.Cys303Ter)	SLC26A2 (C303*)	Single nucleotide variant (nonsense)	Achondrogenesis, type IB +3 more	GPathogenic/Likely pathogenic
Select item 65558	NM_000112.4(SLC26A2):c.1011TGT[3] (p.Val341del)	SLC26A2 (V341del)	Microsatellite (inframe_deletion)	Sulfate transporter-related osteochondrodysplasia +5 more	GPathogenic/Likely pathogenic
Select item 56012	NM_000112.4(SLC26A2):c.1157C>T (p.Ala386Val)	SLC26A2 (A386V)	Single nucleotide variant (missense variant)	Multiple epiphyseal dysplasia type 4 +3 more	GPathogenic/Likely pathogenic
Select item 1071456	NM_000112.4(SLC26A2):c.1246C>T (p.Gln416Ter)	SLC26A2 (Q416*)	Single nucleotide variant (nonsense)	Achondrogenesis, type IB +3 more	GPathogenic/Likely pathogenic
Select item 4093	NM_000112.4(SLC26A2):c.1273A>G (p.Asn425Asp)	SLC26A2 (N425D)	Single nucleotide variant (missense variant)	Achondrogenesis, type IB +3 more	GPathogenic/Likely pathogenic
Select item 371704	NM_000112.4(SLC26A2):c.1311dup (p.Ala438fs)	SLC26A2 (A438fs)	Duplication (frameshift variant)	Achondrogenesis, type IB +3 more	GLikely pathogenic
Select item 2678889	NM_000112.4(SLC26A2):c.1336A>T (p.Lys446Ter)	SLC26A2 (K446*)	Single nucleotide variant (nonsense)	Achondrogenesis, type IB +3 more	GPathogenic/Likely pathogenic
Select item 2014463	NM_000112.4(SLC26A2):c.1343C>A (p.Ser448Ter)	SLC26A2 (S448*)	Single nucleotide variant (nonsense)	Multiple epiphyseal dysplasia type 4 +3 more	GPathogenic
Select item 56014	NM_000112.4(SLC26A2):c.1394del (p.Leu465fs)	SLC26A2 (L465fs)	Deletion (frameshift variant)	Multiple epiphyseal dysplasia type 4 +3 more	GPathogenic/Likely pathogenic
Select item 1378416	NM_000112.4(SLC26A2):c.1397dup (p.Leu466fs)	SLC26A2 (L466fs)	Duplication (frameshift variant)	Achondrogenesis, type IB +3 more	GPathogenic/Likely pathogenic
Select item 960730	NM_000112.4(SLC26A2):c.1421del (p.Leu474fs)	SLC26A2 (L474fs)	Deletion (frameshift variant)	Achondrogenesis, type IB +4 more	GPathogenic/Likely pathogenic
Select item 2002215	NM_000112.4(SLC26A2):c.1428T>G (p.Tyr476Ter)	SLC26A2 (Y476*)	Single nucleotide variant (nonsense)	Achondrogenesis, type IB +3 more	GPathogenic/Likely pathogenic
Select item 1070678	NM_000112.4(SLC26A2):c.1441dup (p.Ser481fs)	SLC26A2 (S481fs)	Duplication (frameshift variant)	Atelosteogenesis type II +3 more	GPathogenic/Likely pathogenic
Select item 371758	NM_000112.4(SLC26A2):c.1537_1541dup (p.Ile514fs)	SLC26A2 (I514fs)	Duplication (frameshift variant)	Atelosteogenesis type II +3 more	GPathogenic/Likely pathogenic
Select item 2040541	NM_000112.4(SLC26A2):c.1630del (p.Leu544fs)	SLC26A2 (L544fs)	Deletion (frameshift variant)	Achondrogenesis, type IB +3 more	GPathogenic/Likely pathogenic
Select item 1458581	NM_000112.4(SLC26A2):c.1639C>T (p.Gln547Ter)	SLC26A2 (Q547*)	Single nucleotide variant (nonsense)	Achondrogenesis, type IB +3 more	GPathogenic/Likely pathogenic
Select item 371717	NM_000112.4(SLC26A2):c.1649del (p.Lys550fs)	SLC26A2 (K550fs)	Deletion (frameshift variant)	Atelosteogenesis type II +3 more	GPathogenic/Likely pathogenic
Select item 56016	NM_000112.4(SLC26A2):c.1650del (p.Ser551fs)	SLC26A2 (S551fs)	Deletion (frameshift variant)	Sulfate transporter-related osteochondrodysplasia +6 more	GConflicting classifications of pathogenicity
Select item 928888	NM_000112.4(SLC26A2):c.1655C>A (p.Ser552Ter)	SLC26A2 (S552*)	Single nucleotide variant (nonsense)	Multiple epiphyseal dysplasia type 4 +4 more	GPathogenic/Likely pathogenic
Select item 495551	NM_000112.4(SLC26A2):c.1707C>G (p.Tyr569Ter)	SLC26A2 (Y569*)	Single nucleotide variant (nonsense)	Achondrogenesis, type IB +4 more	GPathogenic/Likely pathogenic
Select item 1070109	NM_000112.4(SLC26A2):c.1714del (p.Leu572fs)	SLC26A2 (L572fs)	Deletion (frameshift variant)	Atelosteogenesis type II +3 more	GPathogenic/Likely pathogenic
Select item 4087	NM_000112.4(SLC26A2):c.1724del (p.Lys575fs)	SLC26A2 (K575fs)	Deletion (frameshift variant)	Connective tissue disorder +5 more	GPathogenic
Select item 550571	NM_000112.4(SLC26A2):c.1764C>A (p.Tyr588Ter)	SLC26A2 (Y588*)	Single nucleotide variant (nonsense)	Multiple epiphyseal dysplasia type 4 +3 more	GPathogenic/Likely pathogenic
Select item 942484	NM_000112.4(SLC26A2):c.1777G>T (p.Glu593Ter)	SLC26A2 (E593*)	Single nucleotide variant (nonsense)	Achondrogenesis, type IB +4 more	GPathogenic/Likely pathogenic
Select item 2951898	NM_000112.4(SLC26A2):c.1796T>A (p.Leu599Ter)	SLC26A2 (L599*)	Single nucleotide variant (nonsense)	Achondrogenesis, type IB +3 more	GPathogenic/Likely pathogenic
Select item 371783	NM_000112.4(SLC26A2):c.1806_1809del (p.Thr603fs)	SLC26A2 (T603fs)	Deletion (frameshift variant)	Diastrophic dysplasia +3 more	GPathogenic/Likely pathogenic
Select item 554186	NM_000112.4(SLC26A2):c.1817del (p.Pro606fs)	SLC26A2 (P606fs)	Deletion (frameshift variant)	Achondrogenesis, type IB +3 more	GPathogenic/Likely pathogenic
Select item 2678892	NM_000112.4(SLC26A2):c.1847del (p.Ala616fs)	SLC26A2 (A616fs)	Deletion (frameshift variant)	Achondrogenesis, type IB +3 more	GPathogenic/Likely pathogenic
Select item 951956	NM_000112.4(SLC26A2):c.1878del (p.Thr627fs)	SLC26A2 (T627fs)	Deletion (frameshift variant)	Achondrogenesis, type IB +3 more	GPathogenic/Likely pathogenic
Select item 558379	NM_000112.4(SLC26A2):c.1926del (p.Leu644fs)	SLC26A2 (L644fs)	Deletion (frameshift variant)	Achondrogenesis, type IB +3 more	GPathogenic/Likely pathogenic
Select item 962984	NM_000112.4(SLC26A2):c.1950del (p.Ile651fs)	SLC26A2 (I651fs)	Deletion (frameshift variant)	Achondrogenesis, type IB +3 more	GPathogenic/Likely pathogenic
Select item 4098	NM_000112.4(SLC26A2):c.1957T>A (p.Cys653Ser)	SLC26A2 (C653S)	Single nucleotide variant (missense variant)	Sulfate transporter-related osteochondrodysplasia +8 more	GPathogenic/Likely pathogenic
Select item 371722	NM_000112.4(SLC26A2):c.1982del (p.Thr661fs)	SLC26A2 (T661fs)	Deletion (frameshift variant)	Diastrophic dysplasia +3 more	GPathogenic/Likely pathogenic
Select item 550616	NM_000112.4(SLC26A2):c.1987G>A (p.Gly663Arg)	SLC26A2 (G663R)	Single nucleotide variant (missense variant)	Achondrogenesis, type IB +5 more	GConflicting classifications of pathogenicity
Select item 1285445	NM_000112.4(SLC26A2):c.1994dup (p.His665fs)	SLC26A2 (H665fs)	Duplication (frameshift variant)	Achondrogenesis, type IB +3 more	GPathogenic/Likely pathogenic
Select item 841272	NM_000112.4(SLC26A2):c.2017_2018del (p.Asp673fs)	SLC26A2 (D673fs)	Microsatellite (frameshift variant)	Achondrogenesis, type IB +3 more	GPathogenic/Likely pathogenic
Select item 4091	NM_000112.4(SLC26A2):c.2144C>T (p.Ala715Val)	SLC26A2 (A715V)	Single nucleotide variant (missense variant)	Achondrogenesis, type IB +3 more	GConflicting classifications of pathogenicity

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Items: 58