ClinVar (all) for Orgtrack (Select 28338) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2506994	NM_006031.6(PCNT):c.8018dup (p.Leu2674fs)	PCNT (L2556fs +1 more)	Duplication (frameshift variant)	Microcephalic osteodysplastic primordial dwarfism type II	GLikely pathogenic
Select item 2506993	NM_006031.6(PCNT):c.6564_6565del (p.Met2188fs)	PCNT (M2070fs +1 more)	Deletion (frameshift variant)	Microcephalic osteodysplastic primordial dwarfism type II	GLikely pathogenic
Select item 2506992	NM_006031.6(PCNT):c.2812C>T (p.Gln938Ter)	PCNT (Q820* +1 more)	Single nucleotide variant (nonsense)	Microcephalic osteodysplastic primordial dwarfism type II	GLikely pathogenic
Select item 2506991	NM_006031.6(PCNT):c.6316_6325del (p.Leu2106fs)	PCNT (L1988fs +1 more)	Deletion (frameshift variant)	Microcephalic osteodysplastic primordial dwarfism type II	GLikely pathogenic
Select item 2506948	NM_020041.3(SLC2A9):c.731T>A (p.Val244Asp)	SLC2A9 (V215D +1 more)	Single nucleotide variant (missense variant)	Hypouricemia, renal, 2	GUncertain significance
Select item 2506947	NM_020041.3(SLC2A9):c.684G>A (p.Glu228=)	SLC2A9	Single nucleotide variant (synonymous variant)	Hypouricemia, renal, 2	GUncertain significance
Select item 2506946	NM_005378.6(MYCN):c.1211T>G (p.Leu404Arg)	MYCN (L193R +1 more)	Single nucleotide variant (missense variant +1 more)	Feingold syndrome type 1	GLikely pathogenic
Select item 2506945	NM_000782.5(CYP24A1):c.364G>T (p.Glu122Ter)	CYP24A1 (E122*)	Single nucleotide variant (nonsense)	Hypercalcemia, infantile, 1	GPathogenic
Select item 2506944	NM_001079668.3(NKX2-1):c.456_457delinsACGG (p.Phe152fs)	NKX2-1, SFTA3 (F122fs +1 more)	Indel (frameshift variant)	Benign hereditary chorea	GPathogenic
Select item 2506943	NM_001079668.3(NKX2-1):c.196del (p.Ala66fs)	NKX2-1, SFTA3 (A36fs +1 more)	Deletion (frameshift variant)	Brain-lung-thyroid syndrome	GPathogenic
Select item 2506942	NM_001079668.3(NKX2-1):c.336_345del (p.Val113fs)	NKX2-1, SFTA3 (V113fs +1 more)	Deletion (frameshift variant)	Brain-lung-thyroid syndrome	GPathogenic
Select item 2506941	NM_001079668.3(NKX2-1):c.1025del (p.Gly342fs)	NKX2-1, SFTA3 (G312fs +1 more)	Deletion (frameshift variant)	Benign hereditary chorea	GLikely pathogenic
Select item 2506940	NM_001079668.3(NKX2-1):c.481_485del (p.Pro161fs)	NKX2-1, SFTA3 (P131fs +1 more)	Deletion (frameshift variant)	Brain-lung-thyroid syndrome	GLikely pathogenic
Select item 2506939	NM_001079668.3(NKX2-1):c.647del (p.Leu216fs)	NKX2-1, SFTA3 (L186fs +1 more)	Deletion (frameshift variant)	Brain-lung-thyroid syndrome	GPathogenic
Select item 2506938	NM_001079668.3(NKX2-1):c.905del (p.Ala302fs)	NKX2-1, SFTA3 (A272fs +1 more)	Deletion (frameshift variant)	Brain-lung-thyroid syndrome	GLikely pathogenic
Select item 2506937	NM_001079668.3(NKX2-1):c.423del (p.Gly142fs)	NKX2-1, SFTA3 (G112fs +1 more)	Deletion (frameshift variant)	Brain-lung-thyroid syndrome	GPathogenic
Select item 2506936	NM_000782.5(CYP24A1):c.641-1G>A	CYP24A1	Single nucleotide variant (splice acceptor variant)	Hypercalcemia, infantile, 1	GPathogenic
Select item 2506935	NM_001079668.3(NKX2-1):c.605A>T (p.Gln202Leu)	NKX2-1, SFTA3 (Q172L +1 more)	Single nucleotide variant (missense variant)	Brain-lung-thyroid syndrome	GLikely pathogenic
Select item 2506934	NM_001079668.3(NKX2-1):c.622C>T (p.Arg208Ter)	NKX2-1, SFTA3 (R178* +1 more)	Single nucleotide variant (nonsense)	Brain-lung-thyroid syndrome	GPathogenic
Select item 2506933	NM_001079668.3(NKX2-1):c.711C>G (p.Ile237Met)	NKX2-1, SFTA3 (I207M +1 more)	Single nucleotide variant (missense variant)	Brain-lung-thyroid syndrome	GPathogenic
Select item 2506932	NM_001079668.3(NKX2-1):c.724C>G (p.His242Asp)	NKX2-1, SFTA3 (H212D +1 more)	Single nucleotide variant (missense variant)	Brain-lung-thyroid syndrome	GLikely pathogenic
Select item 2506931	NM_001079668.3(NKX2-1):c.701A>T (p.Gln234Leu)	NKX2-1, SFTA3 (Q204L +1 more)	Single nucleotide variant (missense variant)	Brain-lung-thyroid syndrome	GLikely pathogenic
Select item 2506930	NM_001079668.3(NKX2-1):c.348C>G (p.Tyr116Ter)	NKX2-1, SFTA3 (Y116* +1 more)	Single nucleotide variant (nonsense)	Brain-lung-thyroid syndrome	GLikely pathogenic
Select item 2506929	NM_001079668.3(NKX2-1):c.704T>C (p.Val235Ala)	NKX2-1, SFTA3 (V205A +1 more)	Single nucleotide variant (missense variant)	Brain-lung-thyroid syndrome	GLikely pathogenic
Select item 2506928	NM_001079668.3(NKX2-1):c.650C>A (p.Ser217Ter)	NKX2-1, SFTA3 (S187* +1 more)	Single nucleotide variant (nonsense)	Brain-lung-thyroid syndrome	GPathogenic
Select item 2506927	NM_001079668.3(NKX2-1):c.728G>C (p.Arg243Pro)	NKX2-1, SFTA3 (R213P +1 more)	Single nucleotide variant (missense variant)	Brain-lung-thyroid syndrome	GLikely pathogenic
Select item 2506926	NM_001079668.3(NKX2-1):c.822C>A (p.Cys274Ter)	NKX2-1, SFTA3 (C244* +1 more)	Single nucleotide variant (nonsense)	Brain-lung-thyroid syndrome	GLikely pathogenic
Select item 2506925	NM_001079668.3(NKX2-1):c.1173C>T (p.Ser391=)	NKX2-1, SFTA3	Single nucleotide variant (synonymous variant)	Brain-lung-thyroid syndrome	GUncertain significance
Select item 2506924	NM_005199.5(CHRNG):c.420G>A (p.Trp140Ter)	CHRNG (W140*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 2506923	NM_000116.5(TAFAZZIN):c.583+5G>A	TAFAZZIN	Single nucleotide variant (intron variant)	3-Methylglutaconic aciduria type 2	GUncertain significance
Select item 2506922	NM_000116.5(TAFAZZIN):c.238+2T>G	TAFAZZIN	Single nucleotide variant (splice donor variant)	3-Methylglutaconic aciduria type 2	GLikely pathogenic
Select item 2506921	NM_000116.5(TAFAZZIN):c.236G>A (p.Trp79Ter)	TAFAZZIN (W79* +1 more)	Single nucleotide variant (nonsense +1 more)	TAFAZZIN-related condition +1 more	GPathogenic
Select item 2506920	NM_000116.5(TAFAZZIN):c.699+1G>T	TAFAZZIN	Single nucleotide variant (splice donor variant)	3-Methylglutaconic aciduria type 2	GLikely pathogenic
Select item 2506919	NM_000344.4(SMN1):c.801G>A (p.Trp267Ter)	SMN1 (W235* +1 more)	Single nucleotide variant (nonsense)	Kugelberg-Welander disease	GPathogenic
Select item 2506918	NM_001079668.3(NKX2-1):c.1045dup (p.His349fs)	NKX2-1, SFTA3 (H319fs +1 more)	Duplication (frameshift variant)	Brain-lung-thyroid syndrome	GLikely pathogenic
Select item 2506917	NM_001079668.3(NKX2-1):c.583del (p.Arg195fs)	NKX2-1, SFTA3 (R165fs +1 more)	Deletion (frameshift variant)	Brain-lung-thyroid syndrome	GPathogenic
Select item 2506916	NM_001079668.3(NKX2-1):c.1040del (p.Pro347fs)	NKX2-1, SFTA3 (P317fs +1 more)	Deletion (frameshift variant)	Brain-lung-thyroid syndrome	GLikely pathogenic
Select item 2506915	NM_001079668.3(NKX2-1):c.552_556del (p.Pro185fs)	NKX2-1, SFTA3 (P155fs +1 more)	Deletion (frameshift variant)	Brain-lung-thyroid syndrome	GLikely pathogenic
Select item 2506914	NM_000116.5(TAFAZZIN):c.171del (p.Gly58fs)	TAFAZZIN (G58fs +1 more)	Deletion (frameshift variant +1 more)	3-Methylglutaconic aciduria type 2	GLikely pathogenic
Select item 2506913	NM_000116.5(TAFAZZIN):c.245T>C (p.Leu82Pro)	TAFAZZIN (L100P +1 more)	Single nucleotide variant (missense variant +1 more)	3-Methylglutaconic aciduria type 2	GUncertain significance
Select item 2506912	NM_000116.5(TAFAZZIN):c.747_748insCGGGCGCCGGCGGCTCTCC (p.Glu250fs)	TAFAZZIN (E206fs +5 more)	Insertion (frameshift variant +1 more)	3-Methylglutaconic aciduria type 2	GLikely pathogenic
Select item 2506911	NM_001079668.3(NKX2-1):c.1092_1108del (p.Ser366fs)	NKX2-1, SFTA3 (S336fs +1 more)	Deletion (frameshift variant)	Brain-lung-thyroid syndrome	GLikely pathogenic
Select item 2506910	NM_000116.5(TAFAZZIN):c.302A>T (p.Asp101Val)	TAFAZZIN (D101V +1 more)	Single nucleotide variant (missense variant +1 more)	3-Methylglutaconic aciduria type 2	GUncertain significance
Select item 2506909	NM_000116.5(TAFAZZIN):c.280C>G (p.Arg94Gly)	TAFAZZIN (R112G +1 more)	Single nucleotide variant (missense variant +1 more)	3-Methylglutaconic aciduria type 2	GLikely pathogenic
Select item 2506908	NM_000116.5(TAFAZZIN):c.222C>A (p.Asp74Glu)	TAFAZZIN (D74E +1 more)	Single nucleotide variant (missense variant +1 more)	3-Methylglutaconic aciduria type 2	GLikely pathogenic
Select item 2506907	NM_001079668.3(NKX2-1):c.216del (p.Arg72fs)	NKX2-1, SFTA3 (R42fs +1 more)	Deletion (frameshift variant)	Brain-lung-thyroid syndrome	GPathogenic
Select item 2506906	NM_000116.5(TAFAZZIN):c.211T>C (p.Ser71Pro)	TAFAZZIN (S71P +1 more)	Single nucleotide variant (missense variant +1 more)	3-Methylglutaconic aciduria type 2	GUncertain significance
Select item 2506905	NM_000116.5(TAFAZZIN):c.294delinsTTAAGGACCCCT (p.Ala98_Ala99insTer)	TAFAZZIN	Indel (nonsense +2 more)	3-Methylglutaconic aciduria type 2	GLikely pathogenic
Select item 2506904	NM_000116.5(TAFAZZIN):c.609T>A (p.Cys203Ter)	TAFAZZIN (C159* +5 more)	Single nucleotide variant (nonsense +1 more)	3-Methylglutaconic aciduria type 2	GLikely pathogenic
Select item 2506903	NM_000116.5(TAFAZZIN):c.163G>T (p.Glu55Ter)	TAFAZZIN (E55* +1 more)	Single nucleotide variant (nonsense +1 more)	3-Methylglutaconic aciduria type 2	GLikely pathogenic
Select item 2506902	NM_000116.5(TAFAZZIN):c.124del (p.His41_Leu42insTer)	DNASE1L1, TAFAZZIN	Deletion (nonsense +2 more)	3-Methylglutaconic aciduria type 2	GLikely pathogenic
Select item 2506901	NM_000116.5(TAFAZZIN):c.51G>A (p.Trp17Ter)	DNASE1L1, LOC130068869 +1 more (W17*)	Single nucleotide variant (5 prime UTR variant +2 more)	3-Methylglutaconic aciduria type 2	GLikely pathogenic
Select item 2506900	NM_000116.5(TAFAZZIN):c.748G>T (p.Glu250Ter)	TAFAZZIN (E206* +5 more)	Single nucleotide variant (nonsense +1 more)	3-Methylglutaconic aciduria type 2	GLikely pathogenic
Select item 2506899	NM_001079668.3(NKX2-1):c.611_614delinsT (p.Tyr204_Glu205delinsLeu)	NKX2-1, SFTA3	Indel (inframe_indel)	Brain-lung-thyroid syndrome	GLikely pathogenic
Select item 2506898	NM_000116.5(TAFAZZIN):c.285G>A (p.Trp95Ter)	TAFAZZIN (W113* +1 more)	Single nucleotide variant (nonsense +1 more)	3-Methylglutaconic aciduria type 2	GLikely pathogenic
Select item 2506897	NM_000116.5(TAFAZZIN):c.481G>A (p.Gly161Arg)	TAFAZZIN (G131R +3 more)	Single nucleotide variant (missense variant +1 more)	3-Methylglutaconic aciduria type 2	GUncertain significance
Select item 2506896	NM_000116.5(TAFAZZIN):c.533T>C (p.Phe178Ser)	TAFAZZIN (F148S +3 more)	Single nucleotide variant (missense variant +1 more)	3-Methylglutaconic aciduria type 2	GUncertain significance
Select item 2506895	NM_000116.5(TAFAZZIN):c.626T>A (p.Ile209Asn)	TAFAZZIN (I165N +5 more)	Single nucleotide variant (missense variant +1 more)	3-Methylglutaconic aciduria type 2	GUncertain significance
Select item 2506894	NM_000116.5(TAFAZZIN):c.868_872dup (p.Arg292fs)	TAFAZZIN (R248fs +5 more)	Duplication (frameshift variant +1 more)	3-Methylglutaconic aciduria type 2	GPathogenic
Select item 2506893	NM_000116.5(TAFAZZIN):c.54_55del (p.Leu19fs)	LOC130068869, DNASE1L1 +1 more (L19fs)	Deletion (frameshift variant +2 more)	3-Methylglutaconic aciduria type 2	GLikely pathogenic
Select item 2506892	NM_000116.5(TAFAZZIN):c.310T>G (p.Phe104Val)	TAFAZZIN (F104V +1 more)	Single nucleotide variant (missense variant +1 more)	3-Methylglutaconic aciduria type 2	GUncertain significance
Select item 2506891	NM_000116.5(TAFAZZIN):c.497T>A (p.Leu166Ter)	TAFAZZIN (L136* +3 more)	Single nucleotide variant (nonsense +1 more)	3-Methylglutaconic aciduria type 2	GPathogenic
Select item 2506890	NM_000116.5(TAFAZZIN):c.329_334del (p.Ser110_His111del)	TAFAZZIN	Deletion (inframe_deletion +1 more)	3-Methylglutaconic aciduria type 2	GLikely pathogenic
Select item 2506889	NM_000116.5(TAFAZZIN):c.149T>C (p.Leu50Pro)	TAFAZZIN (L50P +1 more)	Single nucleotide variant (missense variant +1 more)	3-Methylglutaconic aciduria type 2	GUncertain significance
Select item 2506888	NM_000116.5(TAFAZZIN):c.635T>C (p.Leu212Pro)	TAFAZZIN (L168P +5 more)	Single nucleotide variant (missense variant +1 more)	3-Methylglutaconic aciduria type 2	GUncertain significance
Select item 2506887	NM_000116.5(TAFAZZIN):c.703dup (p.Ile235fs)	TAFAZZIN (I191fs +5 more)	Duplication (frameshift variant +1 more)	3-Methylglutaconic aciduria type 2	GPathogenic
Select item 2506886	NM_000116.5(TAFAZZIN):c.370G>C (p.Gly124Arg)	TAFAZZIN (G124R +1 more)	Single nucleotide variant (missense variant +1 more)	3-Methylglutaconic aciduria type 2	GLikely pathogenic
Select item 2506885	NM_000116.5(TAFAZZIN):c.349A>G (p.Lys117Glu)	TAFAZZIN (K117E +1 more)	Single nucleotide variant (missense variant +1 more)	3-Methylglutaconic aciduria type 2	GUncertain significance
Select item 2506884	NM_001079668.3(NKX2-1):c.348C>A (p.Tyr116Ter)	NKX2-1, SFTA3 (Y116* +1 more)	Single nucleotide variant (nonsense)	Brain-lung-thyroid syndrome	GLikely pathogenic
Select item 2506883	NM_000116.5(TAFAZZIN):c.161T>A (p.Ile54Asn)	TAFAZZIN (I54N +1 more)	Single nucleotide variant (missense variant +1 more)	3-Methylglutaconic aciduria type 2	GUncertain significance
Select item 2506882	NM_000116.5(TAFAZZIN):c.541+1G>T	TAFAZZIN	Single nucleotide variant (splice donor variant)	3-Methylglutaconic aciduria type 2	GLikely pathogenic
Select item 2506881	NM_000441.2(SLC26A4):c.1154_1156delinsCAGCAACATCTTCTCAGGATTCTTCTC (p.Phe385_Ile386delinsSerAlaThrSerSerGlnAspSerSerLeu)	SLC26A4	Indel (inframe_indel)	Pendred syndrome	GPathogenic
Select item 2506880	NM_001079668.3(NKX2-1):c.997del (p.Ala333fs)	NKX2-1, SFTA3 (A303fs +1 more)	Deletion (frameshift variant)	Brain-lung-thyroid syndrome	GLikely pathogenic
Select item 2506879	NM_001079668.3(NKX2-1):c.1157_1163dup (p.Thr389fs)	NKX2-1, SFTA3 (T359fs +1 more)	Duplication (frameshift variant)	Brain-lung-thyroid syndrome	GLikely pathogenic
Select item 2506878	NM_001079668.3(NKX2-1):c.377_387del (p.Glu126fs)	NKX2-1, SFTA3 (E126fs +1 more)	Deletion (frameshift variant)	Brain-lung-thyroid syndrome	GLikely pathogenic
Select item 2506577	NM_000441.2(SLC26A4):c.633A>G (p.Ile211Met)	SLC26A4 (I211M)	Single nucleotide variant (missense variant)	Pendred syndrome	GUncertain significance
Select item 2444045	NM_001079668.3(NKX2-1):c.464-9C>A	NKX2-1, SFTA3	Single nucleotide variant (intron variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 2138792	NM_000116.5(TAFAZZIN):c.553A>G (p.Met185Val)	TAFAZZIN (M155V +2 more)	Single nucleotide variant (missense variant +2 more)	3-Methylglutaconic aciduria type 2	GConflicting classifications of pathogenicity
Select item 2013969	NM_001079668.3(NKX2-1):c.474del (p.Phe158fs)	NKX2-1, SFTA3 (F158fs +1 more)	Deletion (frameshift variant)	not provided +1 more	GPathogenic
Select item 1937688	NM_000116.5(TAFAZZIN):c.284+5G>A	TAFAZZIN	Single nucleotide variant (non-coding transcript variant +1 more)	3-Methylglutaconic aciduria type 2	GConflicting classifications of pathogenicity
Select item 1919630	NM_144585.4(SLC22A12):c.918C>T (p.Asn306=)	SLC22A12	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1801521	NM_001079668.3(NKX2-1):c.626G>C (p.Arg209Pro)	NKX2-1, SFTA3 (R179P +1 more)	Single nucleotide variant (missense variant)	Hereditary ataxia +2 more	GPathogenic/Likely pathogenic
Select item 1799618	NM_000116.5(TAFAZZIN):c.370G>A (p.Gly124Arg)	TAFAZZIN (G124R +1 more)	Single nucleotide variant (missense variant +1 more)	3-Methylglutaconic aciduria type 2 +1 more	GConflicting classifications of pathogenicity
Select item 1712809	NM_001079668.3(NKX2-1):c.612C>A (p.Tyr204Ter)	NKX2-1, SFTA3 (Y174* +1 more)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 1704478	NM_000116.5(TAFAZZIN):c.517del (p.Asp173fs)	TAFAZZIN (D143fs +2 more)	Deletion (frameshift variant +1 more)	3-Methylglutaconic aciduria type 2	GPathogenic
Select item 1073013	NM_000116.5(TAFAZZIN):c.109+5G>A	DNASE1L1, LOC130068869 +1 more	Single nucleotide variant (5 prime UTR variant +2 more)	3-Methylglutaconic aciduria type 2	GPathogenic/Likely pathogenic
Select item 928890	NM_000116.5(TAFAZZIN):c.777+1G>A	TAFAZZIN	Single nucleotide variant (splice donor variant)	3-Methylglutaconic aciduria type 2 +1 more	GPathogenic/Likely pathogenic
Select item 870856	NM_001079668.3(NKX2-1):c.432C>A (p.Tyr144Ter)	NKX2-1, SFTA3 (Y144* +1 more)	Single nucleotide variant (nonsense)	Brain-lung-thyroid syndrome +1 more	GPathogenic/Likely pathogenic
Select item 807109	NM_001079668.3(NKX2-1):c.344del (p.Gly115fs)	NKX2-1, SFTA3 (G85fs +1 more)	Deletion (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 689773	NM_001079668.3(NKX2-1):c.872C>G (p.Pro291Arg)	NKX2-1, SFTA3 (P261R +1 more)	Single nucleotide variant (missense variant)	Benign hereditary chorea +1 more	GLikely pathogenic
Select item 653322	NM_000116.5(TAFAZZIN):c.281G>A (p.Arg94His)	TAFAZZIN (R112H +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 638931	NM_000116.5(TAFAZZIN):c.370G>T (p.Gly124Ter)	TAFAZZIN (G142* +1 more)	Single nucleotide variant (nonsense +1 more)	3-Methylglutaconic aciduria type 2	GPathogenic
Select item 634950	NM_003661.4(APOL1):c.1104T>G (p.Ala368=)	APOL1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign; risk factor
Select item 634949	NM_003661.4(APOL1):c.976A>G (p.Ile326Val)	APOL1 (I342V +2 more)	Single nucleotide variant (missense variant)	Focal segmental glomerulosclerosis 4, susceptibility to	Grisk factor
Select item 634948	NM_000782.5(CYP24A1):c.470G>A (p.Arg157Gln)	CYP24A1 (R157Q)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 634947	NM_000344.4(SMN1):c.399_402del (p.Glu134fs)	SMN1 (E134fs)	Microsatellite (frameshift variant)	not provided	GPathogenic
Select item 634946	NM_000344.4(SMN1):c.*3+1G>A	SMN1	Single nucleotide variant (intron variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 634945	NM_000344.3(SMN1):c.274_284del11	SMN1	Deletion	not provided	GPathogenic
Select item 634944	NM_000344.4(SMN1):c.873T>A (p.His291Gln)	SMN1 (H291Q +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 634943	NM_000344.4(SMN1):c.866G>A (p.Cys289Tyr)	SMN1 (C289Y +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance

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