ClinVar for MedGen (Select 338072) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2953745	NM_000112.4(SLC26A2):c.1720_1721insCTAAGCCAGGCATCAAGATTTTCCGCTTTGTAGCCCCTCTCTACTACAGA (p.Ile574fs)	SLC26A2 (I574fs)	Insertion (frameshift variant)	Achondrogenesis, type IB +3 more	GPathogenic
Select item 2953582	NM_000112.4(SLC26A2):c.1398G>A (p.Leu466=)	SLC26A2	Single nucleotide variant (synonymous variant)	Achondrogenesis, type IB +3 more	GLikely benign
Select item 2953075	NM_000112.4(SLC26A2):c.1458C>A (p.Ile486=)	SLC26A2	Single nucleotide variant (synonymous variant)	Achondrogenesis, type IB +3 more	GLikely benign
Select item 2952891	NM_000112.4(SLC26A2):c.1514G>A (p.Trp505Ter)	SLC26A2 (W505*)	Single nucleotide variant (nonsense)	Achondrogenesis, type IB +3 more	GPathogenic
Select item 2952815	NM_000112.4(SLC26A2):c.1386G>T (p.Leu462=)	SLC26A2	Single nucleotide variant (synonymous variant)	Achondrogenesis, type IB +3 more	GLikely benign
Select item 2952648	NM_000112.4(SLC26A2):c.2034A>G (p.Gly678=)	SLC26A2	Single nucleotide variant (synonymous variant)	Achondrogenesis, type IB +3 more	GLikely benign
Select item 2952647	NM_000112.4(SLC26A2):c.1992C>T (p.Ile664=)	SLC26A2	Single nucleotide variant (synonymous variant)	Achondrogenesis, type IB +3 more	GLikely benign
Select item 2951898	NM_000112.4(SLC26A2):c.1796T>A (p.Leu599Ter)	SLC26A2 (L599*)	Single nucleotide variant (nonsense)	Achondrogenesis, type IB +3 more	GPathogenic
Select item 2950779	NM_000112.4(SLC26A2):c.1053A>G (p.Lys351=)	SLC26A2	Single nucleotide variant (synonymous variant)	Atelosteogenesis type II +3 more	GLikely benign
Select item 2950713	NM_000112.4(SLC26A2):c.309_327del (p.Asp103fs)	SLC26A2 (D103fs)	Deletion (frameshift variant)	Atelosteogenesis type II +3 more	GPathogenic
Select item 2950465	NM_000112.4(SLC26A2):c.984G>A (p.Lys328=)	SLC26A2	Single nucleotide variant (synonymous variant)	Atelosteogenesis type II +3 more	GLikely benign
Select item 2950408	NM_000112.4(SLC26A2):c.1473A>G (p.Leu491=)	SLC26A2	Single nucleotide variant (synonymous variant)	Atelosteogenesis type II +3 more	GLikely benign
Select item 2950062	NM_000112.4(SLC26A2):c.372C>G (p.Pro124=)	SLC26A2	Single nucleotide variant (synonymous variant)	Atelosteogenesis type II +3 more	GLikely benign
Select item 2949971	NM_000112.4(SLC26A2):c.1908A>G (p.Ser636=)	SLC26A2	Single nucleotide variant (synonymous variant)	Atelosteogenesis type II +3 more	GLikely benign
Select item 2949970	NM_000112.4(SLC26A2):c.1483dup (p.Leu495fs)	SLC26A2 (L495fs)	Duplication (frameshift variant)	Atelosteogenesis type II +3 more	GPathogenic
Select item 2949896	NM_000112.4(SLC26A2):c.1257T>C (p.Tyr419=)	SLC26A2	Single nucleotide variant (synonymous variant)	Atelosteogenesis type II +3 more	GLikely benign
Select item 2949871	NM_000112.4(SLC26A2):c.1423T>C (p.Phe475Leu)	SLC26A2 (F475L)	Single nucleotide variant (missense variant)	Atelosteogenesis type II +3 more	GUncertain significance
Select item 2949560	NM_000112.4(SLC26A2):c.795T>C (p.Leu265=)	SLC26A2	Single nucleotide variant (synonymous variant)	Achondrogenesis, type IB +3 more	GLikely benign
Select item 2949019	NM_000112.4(SLC26A2):c.1305T>C (p.Thr435=)	SLC26A2	Single nucleotide variant (synonymous variant)	Achondrogenesis, type IB +3 more	GLikely benign
Select item 2948074	NM_000112.4(SLC26A2):c.540A>G (p.Leu180=)	SLC26A2	Single nucleotide variant (synonymous variant)	Achondrogenesis, type IB +3 more	GLikely benign
Select item 2947877	NM_000112.4(SLC26A2):c.276C>T (p.Phe92=)	SLC26A2	Single nucleotide variant (synonymous variant)	Achondrogenesis, type IB +3 more	GLikely benign
Select item 2947626	NM_000112.4(SLC26A2):c.700-18C>T	SLC26A2	Single nucleotide variant (intron variant)	Achondrogenesis, type IB +3 more	GLikely benign
Select item 2947558	NM_000112.4(SLC26A2):c.1968del (p.Gln657fs)	SLC26A2 (Q657fs)	Deletion (frameshift variant)	Achondrogenesis, type IB +3 more	GPathogenic
Select item 2947415	NM_000112.4(SLC26A2):c.277del (p.Leu93fs)	SLC26A2 (L93fs)	Deletion (frameshift variant)	Achondrogenesis, type IB +3 more	GPathogenic
Select item 2947392	NM_000112.4(SLC26A2):c.93T>A (p.Leu31=)	SLC26A2	Single nucleotide variant (synonymous variant)	Achondrogenesis, type IB +3 more	GLikely benign
Select item 2947304	NM_000112.4(SLC26A2):c.1806A>G (p.Gln602=)	SLC26A2	Single nucleotide variant (synonymous variant)	Achondrogenesis, type IB +3 more	GLikely benign
Select item 2947052	NM_000112.4(SLC26A2):c.700-14A>G	SLC26A2	Single nucleotide variant (intron variant)	Achondrogenesis, type IB +3 more	GLikely benign
Select item 2946896	NM_000112.4(SLC26A2):c.399_402dup (p.Gln135fs)	SLC26A2 (Q135fs)	Microsatellite (frameshift variant)	Achondrogenesis, type IB +3 more	GPathogenic
Select item 2946538	NM_000112.4(SLC26A2):c.1020T>C (p.Val340=)	SLC26A2	Single nucleotide variant (synonymous variant)	Achondrogenesis, type IB +3 more	GLikely benign
Select item 2946444	NM_000112.4(SLC26A2):c.1731C>T (p.Gly577=)	SLC26A2	Single nucleotide variant (synonymous variant)	Achondrogenesis, type IB +3 more	GLikely benign
Select item 2946123	NM_000112.4(SLC26A2):c.961del (p.Leu321fs)	SLC26A2 (L321fs)	Deletion (frameshift variant)	Achondrogenesis, type IB +3 more	GPathogenic
Select item 2946071	NM_000112.4(SLC26A2):c.2127C>T (p.Phe709=)	SLC26A2	Single nucleotide variant (synonymous variant)	Achondrogenesis, type IB +3 more	GLikely benign
Select item 2945812	NM_000112.4(SLC26A2):c.1575A>G (p.Leu525=)	SLC26A2	Single nucleotide variant (synonymous variant)	Achondrogenesis, type IB +3 more	GLikely benign
Select item 2945655	NM_000112.4(SLC26A2):c.441C>G (p.Ala147=)	SLC26A2	Single nucleotide variant (synonymous variant)	Achondrogenesis, type IB +3 more	GLikely benign
Select item 2945621	NM_000112.4(SLC26A2):c.426C>A (p.Tyr142Ter)	SLC26A2 (Y142*)	Single nucleotide variant (nonsense)	Achondrogenesis, type IB +3 more	GPathogenic
Select item 2945503	NM_000112.4(SLC26A2):c.725G>T (p.Gly242Val)	SLC26A2 (G242V)	Single nucleotide variant (missense variant)	Diastrophic dysplasia +3 more	GUncertain significance
Select item 2944759	NM_000112.4(SLC26A2):c.2064C>G (p.Pro688=)	SLC26A2	Single nucleotide variant (synonymous variant)	Diastrophic dysplasia +3 more	GLikely benign
Select item 2944497	NM_000112.4(SLC26A2):c.1384C>T (p.Leu462=)	SLC26A2	Single nucleotide variant (synonymous variant)	Diastrophic dysplasia +3 more	GLikely benign
Select item 2944422	NM_000112.4(SLC26A2):c.75T>A (p.Ser25=)	SLC26A2	Single nucleotide variant (synonymous variant)	Diastrophic dysplasia +3 more	GLikely benign
Select item 2944010	NM_000112.4(SLC26A2):c.1632C>A (p.Leu544=)	SLC26A2	Single nucleotide variant (synonymous variant)	Diastrophic dysplasia +3 more	GLikely benign
Select item 2943944	NM_000112.4(SLC26A2):c.1818A>C (p.Pro606=)	SLC26A2	Single nucleotide variant (synonymous variant)	Diastrophic dysplasia +3 more	GLikely benign
Select item 2943796	NM_000112.4(SLC26A2):c.1509_1514del (p.Met504_Trp505del)	SLC26A2	Deletion (inframe_deletion)	Diastrophic dysplasia +3 more	GPathogenic
Select item 2943452	NM_000112.4(SLC26A2):c.2085del (p.Asn696fs)	SLC26A2 (N696fs)	Deletion (frameshift variant)	Atelosteogenesis type II +3 more	GPathogenic
Select item 2943405	NM_000112.4(SLC26A2):c.695dup (p.Tyr232Ter)	SLC26A2 (Y232*)	Duplication (nonsense)	Atelosteogenesis type II +3 more	GPathogenic
Select item 2943345	NM_000112.4(SLC26A2):c.402C>T (p.Gly134=)	SLC26A2	Single nucleotide variant (synonymous variant)	Atelosteogenesis type II +3 more	GLikely benign
Select item 2943217	NM_000112.4(SLC26A2):c.1341A>G (p.Glu447=)	SLC26A2	Single nucleotide variant (synonymous variant)	Atelosteogenesis type II +3 more	GLikely benign
Select item 2943006	NM_000112.4(SLC26A2):c.858C>A (p.Leu286=)	SLC26A2	Single nucleotide variant (synonymous variant)	Atelosteogenesis type II +3 more	GLikely benign
Select item 2942660	NM_000112.4(SLC26A2):c.1506C>G (p.Pro502=)	SLC26A2	Single nucleotide variant (synonymous variant)	Atelosteogenesis type II +3 more	GLikely benign
Select item 2942616	NM_000112.4(SLC26A2):c.1446C>T (p.Val482=)	SLC26A2	Single nucleotide variant (synonymous variant)	Atelosteogenesis type II +3 more	GLikely benign
Select item 2942420	NM_000112.4(SLC26A2):c.90A>G (p.Glu30=)	SLC26A2	Single nucleotide variant (synonymous variant)	Atelosteogenesis type II +3 more	GLikely benign
Select item 2942312	NM_000112.4(SLC26A2):c.1818A>G (p.Pro606=)	SLC26A2	Single nucleotide variant (synonymous variant)	Atelosteogenesis type II +3 more	GLikely benign
Select item 2941804	NM_000112.4(SLC26A2):c.144C>T (p.Cys48=)	SLC26A2	Single nucleotide variant (synonymous variant)	Atelosteogenesis type II +3 more	GLikely benign
Select item 2941593	NM_000112.4(SLC26A2):c.2080C>T (p.Leu694=)	SLC26A2	Single nucleotide variant (synonymous variant)	Achondrogenesis, type IB +3 more	GLikely benign
Select item 2940581	NM_000112.4(SLC26A2):c.846T>C (p.Gly282=)	SLC26A2	Single nucleotide variant (synonymous variant)	Achondrogenesis, type IB +3 more	GLikely benign
Select item 2940579	NM_000112.4(SLC26A2):c.1809T>C (p.Thr603=)	SLC26A2	Single nucleotide variant (synonymous variant)	Achondrogenesis, type IB +3 more	GLikely benign
Select item 2940488	NM_000112.4(SLC26A2):c.1542C>T (p.Ile514=)	SLC26A2	Single nucleotide variant (synonymous variant)	Achondrogenesis, type IB +3 more	GLikely benign
Select item 2940412	NM_000112.4(SLC26A2):c.1728A>G (p.Pro576=)	SLC26A2	Single nucleotide variant (synonymous variant)	Achondrogenesis, type IB +3 more	GLikely benign
Select item 2940135	NM_000112.4(SLC26A2):c.1995C>T (p.His665=)	SLC26A2	Single nucleotide variant (synonymous variant)	Achondrogenesis, type IB +3 more	GLikely benign
Select item 2939909	NM_000112.4(SLC26A2):c.687T>G (p.Ala229=)	SLC26A2	Single nucleotide variant (synonymous variant)	Achondrogenesis, type IB +3 more	GLikely benign
Select item 2939871	NM_000112.4(SLC26A2):c.699+17C>T	SLC26A2	Single nucleotide variant (intron variant)	Achondrogenesis, type IB +3 more	GLikely benign
Select item 2939718	NM_000112.4(SLC26A2):c.373C>T (p.Gln125Ter)	SLC26A2 (Q125*)	Single nucleotide variant (nonsense)	Achondrogenesis, type IB +3 more	GPathogenic
Select item 2939536	NM_000112.4(SLC26A2):c.700-12C>A	SLC26A2	Single nucleotide variant (intron variant)	Diastrophic dysplasia +3 more	GLikely benign
Select item 2939053	NM_000112.4(SLC26A2):c.1569A>G (p.Ala523=)	SLC26A2	Single nucleotide variant (synonymous variant)	Diastrophic dysplasia +3 more	GLikely benign
Select item 2938646	NM_000112.4(SLC26A2):c.1494T>C (p.Phe498=)	SLC26A2	Single nucleotide variant (synonymous variant)	Diastrophic dysplasia +3 more	GLikely benign
Select item 2938589	NM_000112.4(SLC26A2):c.69T>C (p.Tyr23=)	SLC26A2	Single nucleotide variant (synonymous variant)	Diastrophic dysplasia +3 more	GLikely benign
Select item 2937372	NM_000112.4(SLC26A2):c.241del (p.Ser81fs)	SLC26A2 (S81fs)	Deletion (frameshift variant)	Achondrogenesis, type IB +3 more	GPathogenic
Select item 2937269	NM_000112.4(SLC26A2):c.384T>A (p.Ala128=)	SLC26A2	Single nucleotide variant (synonymous variant)	Achondrogenesis, type IB +3 more	GLikely benign
Select item 2936605	NM_000112.4(SLC26A2):c.327A>G (p.Leu109=)	SLC26A2	Single nucleotide variant (synonymous variant)	Achondrogenesis, type IB +3 more	GLikely benign
Select item 2936471	NM_000112.4(SLC26A2):c.1785T>C (p.Phe595=)	SLC26A2	Single nucleotide variant (synonymous variant)	Achondrogenesis, type IB +3 more	GLikely benign
Select item 2936402	NM_000112.4(SLC26A2):c.888C>T (p.Asn296=)	SLC26A2	Single nucleotide variant (synonymous variant)	Achondrogenesis, type IB +3 more	GLikely benign
Select item 2936121	NM_000112.4(SLC26A2):c.78G>T (p.Gly26=)	SLC26A2	Single nucleotide variant (synonymous variant)	Achondrogenesis, type IB +3 more	GLikely benign
Select item 2936002	NM_000112.4(SLC26A2):c.951A>G (p.Pro317=)	SLC26A2	Single nucleotide variant (synonymous variant)	Achondrogenesis, type IB +3 more	GLikely benign
Select item 2934791	NM_000112.4(SLC26A2):c.480C>A (p.Ile160=)	SLC26A2	Single nucleotide variant (synonymous variant)	Diastrophic dysplasia +3 more	GLikely benign
Select item 2934457	NM_000112.4(SLC26A2):c.627C>T (p.Asp209=)	SLC26A2	Single nucleotide variant (synonymous variant)	Diastrophic dysplasia +3 more	GLikely benign
Select item 2934455	NM_000112.4(SLC26A2):c.916_929dup (p.Cys311fs)	SLC26A2 (C311fs)	Duplication (frameshift variant)	Diastrophic dysplasia +3 more	GPathogenic
Select item 2934429	NM_000112.4(SLC26A2):c.2130T>C (p.Tyr710=)	SLC26A2	Single nucleotide variant (synonymous variant)	Diastrophic dysplasia +3 more	GLikely benign
Select item 2934288	NM_000112.4(SLC26A2):c.699+15A>G	SLC26A2	Single nucleotide variant (intron variant)	Diastrophic dysplasia +3 more	GLikely benign
Select item 2933597	NM_000112.4(SLC26A2):c.700-16A>G	SLC26A2	Single nucleotide variant (intron variant)	Achondrogenesis, type IB +3 more	GLikely benign
Select item 2933524	NM_000112.4(SLC26A2):c.963C>T (p.Leu321=)	SLC26A2	Single nucleotide variant (synonymous variant)	Achondrogenesis, type IB +3 more	GLikely benign
Select item 2933359	NM_000112.4(SLC26A2):c.1381G>T (p.Ala461Ser)	SLC26A2 (A461S)	Single nucleotide variant (missense variant)	Achondrogenesis, type IB +3 more	GUncertain significance
Select item 2932852	NM_000112.4(SLC26A2):c.1629C>T (p.Ile543=)	SLC26A2	Single nucleotide variant (synonymous variant)	Achondrogenesis, type IB +3 more	GLikely benign
Select item 2932549	NM_000112.4(SLC26A2):c.1054C>T (p.Leu352=)	SLC26A2	Single nucleotide variant (synonymous variant)	Achondrogenesis, type IB +3 more	GLikely benign
Select item 2932483	NM_000112.4(SLC26A2):c.672T>C (p.Thr224=)	SLC26A2	Single nucleotide variant (synonymous variant)	Achondrogenesis, type IB +3 more	GLikely benign
Select item 2932137	NM_000112.4(SLC26A2):c.1971A>G (p.Gln657=)	SLC26A2	Single nucleotide variant (synonymous variant)	Achondrogenesis, type IB +3 more	GLikely benign
Select item 2930956	NM_000112.4(SLC26A2):c.1086A>G (p.Gly362=)	SLC26A2	Single nucleotide variant (synonymous variant)	Atelosteogenesis type II +3 more	GLikely benign
Select item 2930248	NM_000112.4(SLC26A2):c.414C>A (p.Val138=)	SLC26A2	Single nucleotide variant (synonymous variant)	Atelosteogenesis type II +3 more	GLikely benign
Select item 2930247	NM_000112.4(SLC26A2):c.1944T>C (p.Thr648=)	SLC26A2	Single nucleotide variant (synonymous variant)	Atelosteogenesis type II +3 more	GLikely benign
Select item 2930018	NM_000112.4(SLC26A2):c.630G>A (p.Arg210=)	SLC26A2	Single nucleotide variant (synonymous variant)	Atelosteogenesis type II +3 more	GLikely benign
Select item 2929921	NM_000112.4(SLC26A2):c.1851A>G (p.Ala617=)	SLC26A2	Single nucleotide variant (synonymous variant)	Atelosteogenesis type II +3 more	GLikely benign
Select item 2926055	NM_000112.4(SLC26A2):c.1558C>T (p.Leu520=)	SLC26A2	Single nucleotide variant (synonymous variant)	Achondrogenesis, type IB +3 more	GLikely benign
Select item 2924639	NM_000112.4(SLC26A2):c.1011T>G (p.Leu337=)	SLC26A2	Single nucleotide variant (synonymous variant)	Achondrogenesis, type IB +3 more	GLikely benign
Select item 2924534	NM_000112.4(SLC26A2):c.2088_2089delinsGT (p.Asn696_Gly697delinsLysTer)	SLC26A2	Indel (nonsense)	Achondrogenesis, type IB +3 more	GPathogenic
Select item 2923197	NM_000112.4(SLC26A2):c.375G>A (p.Gln125=)	SLC26A2	Single nucleotide variant (synonymous variant)	Achondrogenesis, type IB +3 more	GLikely benign
Select item 2922642	NM_000112.4(SLC26A2):c.136_137insTT (p.Asp46fs)	SLC26A2 (D46fs)	Insertion (frameshift variant)	Achondrogenesis, type IB +3 more	GPathogenic
Select item 2922565	NM_000112.4(SLC26A2):c.1959C>T (p.Cys653=)	SLC26A2	Single nucleotide variant (synonymous variant)	Achondrogenesis, type IB +3 more	GLikely benign
Select item 2922456	NM_000112.4(SLC26A2):c.354G>T (p.Val118=)	SLC26A2	Single nucleotide variant (synonymous variant)	Achondrogenesis, type IB +3 more	GLikely benign
Select item 2922352	NM_000112.4(SLC26A2):c.567dup (p.Ser190Ter)	SLC26A2 (S190*)	Duplication (nonsense)	Achondrogenesis, type IB +3 more	GPathogenic
Select item 2922164	NM_000112.4(SLC26A2):c.243T>C (p.Ser81=)	SLC26A2	Single nucleotide variant (synonymous variant)	Achondrogenesis, type IB +3 more	GLikely benign
Select item 2921981	NM_000112.4(SLC26A2):c.378C>G (p.Ser126=)	SLC26A2	Single nucleotide variant (synonymous variant)	Achondrogenesis, type IB +3 more	GLikely benign
Select item 2921904	NM_000112.4(SLC26A2):c.429A>T (p.Thr143=)	SLC26A2	Single nucleotide variant (synonymous variant)	Achondrogenesis, type IB +3 more	GLikely benign

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