C1847593[trait identifier] AND "Counsyl"[submitter] - ClinVar

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Items: 64

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 550984	NM_000112.4(SLC26A2):c.3G>T (p.Met1Ile)	SLC26A2 (M1I)	Single nucleotide variant (missense variant +1 more)	Multiple epiphyseal dysplasia type 4	GLikely pathogenic
Select item 555480	NM_000112.4(SLC26A2):c.63_64del (p.Asp21fs)	SLC26A2 (D21fs)	Deletion (frameshift variant)	Multiple epiphyseal dysplasia type 4	GLikely 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 371736	NM_000112.4(SLC26A2):c.188del (p.Asp63fs)	SLC26A2 (D63fs)	Deletion (frameshift variant)	Atelosteogenesis type II +3 more	GLikely pathogenic
Select item 371687	NM_000112.4(SLC26A2):c.207del (p.Phe69fs)	SLC26A2 (F69fs)	Deletion (frameshift variant)	Atelosteogenesis type II +3 more	GLikely pathogenic
Select item 371749	NM_000112.4(SLC26A2):c.239_243dup (p.Pro82fs)	SLC26A2 (P82fs)	Duplication (frameshift variant)	Diastrophic dysplasia +3 more	GPathogenic/Likely pathogenic
Select item 550569	NM_000112.4(SLC26A2):c.247GCCAAA[1] (p.83AK[1])	SLC26A2	Microsatellite (inframe_deletion)	Multiple epiphyseal dysplasia type 4	GUncertain significance
Select item 557364	NM_000112.4(SLC26A2):c.325_326del (p.Leu109fs)	SLC26A2 (L109fs)	Deletion (frameshift variant)	Multiple epiphyseal dysplasia type 4	GLikely pathogenic
Select item 557539	NM_000112.4(SLC26A2):c.326_331dup (p.Gly110_Asp111insValGly)	SLC26A2	Duplication (inframe_insertion)	Multiple epiphyseal dysplasia type 4	GUncertain significance
Select item 553337	NM_000112.4(SLC26A2):c.387T>G (p.Tyr129Ter)	SLC26A2 (Y129*)	Single nucleotide variant (nonsense)	Multiple epiphyseal dysplasia type 4	GLikely pathogenic
Select item 4088	NM_000112.4(SLC26A2):c.391del (p.Leu131fs)	SLC26A2 (L131fs)	Deletion (frameshift variant)	Achondrogenesis, type IB +3 more	GPathogenic/Likely pathogenic
Select item 557601	NM_000112.4(SLC26A2):c.438del (p.Phe146fs)	SLC26A2 (F146fs)	Deletion (frameshift variant)	Achondrogenesis, type IB +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 553875	NM_000112.4(SLC26A2):c.499del (p.Val167fs)	SLC26A2 (V167fs)	Deletion (frameshift variant)	Multiple epiphyseal dysplasia type 4	GLikely 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 371719	NM_000112.4(SLC26A2):c.541C>T (p.Gln181Ter)	SLC26A2 (Q181*)	Single nucleotide variant (nonsense)	Atelosteogenesis type II +3 more	GLikely pathogenic
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 557257	NM_000112.4(SLC26A2):c.611T>G (p.Leu204Ter)	SLC26A2 (L204*)	Single nucleotide variant (nonsense)	Multiple epiphyseal dysplasia type 4	GLikely pathogenic
Select item 558639	NM_000112.4(SLC26A2):c.642_643del (p.Ser215fs)	SLC26A2 (S215fs)	Deletion (frameshift variant)	Achondrogenesis, type IB +1 more	GLikely pathogenic
Select item 371684	NM_000112.4(SLC26A2):c.699+2T>C	SLC26A2	Single nucleotide variant (splice donor variant)	Achondrogenesis, type IB +3 more	GPathogenic
Select item 552971	NM_000112.4(SLC26A2):c.700-2A>G	SLC26A2	Single nucleotide variant (splice acceptor variant)	Multiple epiphyseal dysplasia type 4	GLikely 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 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 4090	NM_000112.4(SLC26A2):c.764G>A (p.Gly255Glu)	SLC26A2 (G255E)	Single nucleotide variant (missense variant)	Atelosteogenesis type II +4 more	GConflicting classifications of pathogenicity
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 555871	NM_000112.4(SLC26A2):c.776G>T (p.Gly259Val)	SLC26A2 (G259V)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 550140	NM_000112.4(SLC26A2):c.797C>T (p.Thr266Ile)	SLC26A2 (T266I)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 551189	NM_000112.4(SLC26A2):c.870del (p.Thr289_Trp290insTer)	SLC26A2	Deletion (nonsense)	Multiple epiphyseal dysplasia type 4	GLikely pathogenic
Select item 371776	NM_000112.4(SLC26A2):c.918del (p.Thr307fs)	SLC26A2 (T307fs)	Deletion (frameshift variant)	Diastrophic dysplasia +3 more	GLikely pathogenic
Select item 371735	NM_000112.4(SLC26A2):c.922del (p.Ser308fs)	SLC26A2 (S308fs)	Deletion (frameshift variant)	Atelosteogenesis type II +4 more	GPathogenic/Likely pathogenic
Select item 556756	NM_000112.4(SLC26A2):c.925del (p.Leu309fs)	SLC26A2 (L309fs)	Deletion (frameshift variant)	Achondrogenesis, type IB +3 more	GPathogenic/Likely pathogenic
Select item 550392	NM_000112.4(SLC26A2):c.1023AGC[3] (p.Ala343dup)	SLC26A2	Microsatellite (inframe_insertion)	Multiple epiphyseal dysplasia type 4	GUncertain significance
Select item 371786	NM_000112.4(SLC26A2):c.1060G>T (p.Glu354Ter)	SLC26A2 (E354*)	Single nucleotide variant (nonsense)	Diastrophic dysplasia +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 371745	NM_000112.4(SLC26A2):c.1338del (p.Glu447fs)	SLC26A2 (E447fs)	Deletion (frameshift variant)	Atelosteogenesis type II +3 more	GLikely pathogenic
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 557077	NM_000112.4(SLC26A2):c.1441del (p.Ser481fs)	SLC26A2 (S481fs)	Deletion (frameshift variant)	Achondrogenesis, type IB +3 more	GPathogenic/Likely pathogenic
Select item 65559	NM_000112.4(SLC26A2):c.1474C>T (p.Arg492Trp)	SLC26A2 (R492W)	Single nucleotide variant (missense variant)	Sulfate transporter-related osteochondrodysplasia +7 more	GBenign/Likely benign
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 550730	NM_000112.4(SLC26A2):c.1596del (p.Val533fs)	SLC26A2 (V533fs)	Deletion (frameshift variant)	Multiple epiphyseal dysplasia type 4	GLikely pathogenic
Select item 551917	NM_000112.4(SLC26A2):c.1607_1610del (p.Cys536fs)	SLC26A2 (C536fs)	Microsatellite (frameshift variant)	Multiple epiphyseal dysplasia type 4	GLikely 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 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 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 558414	NM_000112.4(SLC26A2):c.1859del (p.Lys620fs)	SLC26A2 (K620fs)	Deletion (frameshift variant)	Multiple epiphyseal dysplasia type 4	GLikely pathogenic
Select item 550585	NM_000112.4(SLC26A2):c.1922A>G (p.His641Arg)	SLC26A2 (H641R)	Single nucleotide variant (missense variant)	Multiple epiphyseal dysplasia type 4	GUncertain significance
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 371708	NM_000112.4(SLC26A2):c.1955_1958del (p.Asp652fs)	SLC26A2 (D652fs)	Deletion (frameshift variant)	Diastrophic dysplasia +3 more	GPathogenic/Likely pathogenic
Select item 551472	NM_000112.4(SLC26A2):c.1956_1957dup (p.Cys653fs)	SLC26A2 (C653fs)	Duplication (frameshift variant)	Multiple epiphyseal dysplasia type 4	GLikely 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 56018	NM_000112.4(SLC26A2):c.1976del (p.Phe658_Leu659insTer)	SLC26A2	Deletion (nonsense)	Multiple epiphyseal dysplasia type 4 +3 more	GLikely 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 371760	NM_000112.4(SLC26A2):c.1998_1999del (p.Leu667fs)	SLC26A2 (L667fs)	Microsatellite (frameshift variant)	Atelosteogenesis type II +3 more	GLikely pathogenic
Select item 555846	NM_000112.4(SLC26A2):c.1994A>C (p.His665Pro)	SLC26A2 (H665P)	Single nucleotide variant (missense variant)	Achondrogenesis, type IB +3 more	GConflicting classifications of pathogenicity
Select item 4094	NM_000112.4(SLC26A2):c.2033G>T (p.Gly678Val)	SLC26A2 (G678V)	Single nucleotide variant (missense variant)	Osteochondrodysplasia +1 more	GLikely pathogenic
Select item 555059	NM_000112.4(SLC26A2):c.2097T>A (p.Tyr699Ter)	SLC26A2 (Y699*)	Single nucleotide variant (nonsense)	Achondrogenesis, type IB +3 more	GConflicting classifications of pathogenicity
Select item 550819	NM_000112.4(SLC26A2):c.2121_2123del (p.Leu708del)	SLC26A2 (L708del)	Deletion (inframe_deletion)	Multiple epiphyseal dysplasia type 4	GUncertain significance
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
Select item 551693	NM_000112.4(SLC26A2):c.2218T>A (p.Ter740Lys)	SLC26A2	Single nucleotide variant (stop lost)	Multiple epiphyseal dysplasia type 4	GUncertain significance

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Items: 64