"Color Diagnostics, LLC DBA Color Health"[submitter] AND "RPL36A-HNRNP - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 558790	NM_000169.3(GLA):c.1290A>G (p.Ter430=)	GLA, RPL36A-HNRNPH2	Single nucleotide variant (synonymous variant +2 more)	Fabry disease	GLikely benign
Select item 10772	NM_000169.3(GLA):c.1277_1278del (p.Lys426fs)	GLA, RPL36A-HNRNPH2 (K426fs +1 more)	Deletion (frameshift variant +2 more)	Fabry disease +1 more	GConflicting classifications of pathogenicity
Select item 926860	NM_000169.3(GLA):c.1265A>T (p.Gln422Leu)	GLA, RPL36A-HNRNPH2 (Q422L +1 more)	Single nucleotide variant (missense variant +2 more)	Fabry disease	GUncertain significance
Select item 928968	NM_000169.3(GLA):c.1233C>T (p.Gly411=)	GLA, RPL36A-HNRNPH2	Single nucleotide variant (synonymous variant +2 more)	Fabry disease +1 more	GLikely benign
Select item 222160	NM_000169.3(GLA):c.1207T>C (p.Leu403=)	GLA, RPL36A-HNRNPH2	Single nucleotide variant (synonymous variant +2 more)	Cardiovascular phenotype +2 more	GLikely benign
Select item 217414	NM_000169.3(GLA):c.1196G>C (p.Trp399Ser)	GLA, RPL36A-HNRNPH2 (W399S +1 more)	Single nucleotide variant (missense variant +2 more)	See cases +4 more	GUncertain significance
Select item 446069	NM_000169.3(GLA):c.1192G>A (p.Glu398Lys)	GLA, RPL36A-HNRNPH2 (E398K +1 more)	Single nucleotide variant (missense variant +2 more)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 405511	NM_000169.3(GLA):c.1184G>C (p.Gly395Ala)	GLA, RPL36A-HNRNPH2 (G395A +1 more)	Single nucleotide variant (missense variant +2 more)	Fabry disease +1 more	GUncertain significance
Select item 281678	NM_000169.3(GLA):c.1181T>C (p.Leu394Pro)	GLA, RPL36A-HNRNPH2 (L394P +1 more)	Single nucleotide variant (missense variant +2 more)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 42452	NM_000169.3(GLA):c.1153A>G (p.Thr385Ala)	GLA, RPL36A-HNRNPH2 (T385A +1 more)	Single nucleotide variant (missense variant +2 more)	Fabry disease +2 more	GBenign/Likely benign
Select item 918966	NM_000169.3(GLA):c.1135A>C (p.Asn379His)	GLA, RPL36A-HNRNPH2 (N379H +1 more)	Single nucleotide variant (missense variant +2 more)	Fabry disease	GUncertain significance
Select item 1171811	NM_000169.3(GLA):c.1109C>T (p.Ala370Val)	GLA, RPL36A-HNRNPH2 (A370V +1 more)	Single nucleotide variant (missense variant +2 more)	Fabry disease	GUncertain significance
Select item 379288	NM_000169.3(GLA):c.1102G>C (p.Ala368Pro)	GLA, RPL36A-HNRNPH2 (A368P +1 more)	Single nucleotide variant (missense variant +2 more)	Fabry disease +2 more	GConflicting classifications of pathogenicity
Select item 42451	NM_000169.3(GLA):c.1102G>A (p.Ala368Thr)	GLA, RPL36A-HNRNPH2 (A368T +1 more)	Single nucleotide variant (missense variant +2 more)	Fabry disease +3 more	GConflicting classifications of pathogenicity
Select item 222143	NM_000169.3(GLA):c.1095T>C (p.Tyr365=)	GLA, RPL36A-HNRNPH2	Single nucleotide variant (synonymous variant +2 more)	Fabry disease +1 more	GLikely benign
Select item 920461	NM_000169.3(GLA):c.1093T>G (p.Tyr365Asp)	GLA, RPL36A-HNRNPH2 (Y365D +1 more)	Single nucleotide variant (missense variant +2 more)	Fabry disease	GUncertain significance
Select item 449838	NM_000169.3(GLA):c.1093T>A (p.Tyr365Asn)	RPL36A-HNRNPH2, GLA (Y365N +1 more)	Single nucleotide variant (missense variant +2 more)	not specified +3 more	GUncertain significance
Select item 222141	NM_000169.3(GLA):c.1088G>A (p.Arg363His)	GLA, RPL36A-HNRNPH2 (R363H +1 more)	Single nucleotide variant (missense variant +2 more)	Fabry disease +1 more	GPathogenic/Likely pathogenic
Select item 198401	NM_000169.3(GLA):c.1087C>T (p.Arg363Cys)	GLA, RPL36A-HNRNPH2 (R363C +1 more)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 222135	NM_000169.3(GLA):c.1067G>A (p.Arg356Gln)	GLA, RPL36A-HNRNPH2 (R356Q +1 more)	Single nucleotide variant (missense variant +2 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 918688	NM_000169.3(GLA):c.1066C>A (p.Arg356=)	RPL36A-HNRNPH2, GLA	Single nucleotide variant (synonymous variant +2 more)	Fabry disease	GLikely benign
Select item 992454	NM_000169.3(GLA):c.1061T>A (p.Ile354Lys)	GLA, RPL36A-HNRNPH2 (I354K +1 more)	Single nucleotide variant (missense variant +2 more)	Fabry disease	GPathogenic
Select item 1172376	NM_000169.3(GLA):c.1060A>G (p.Ile354Val)	GLA, RPL36A-HNRNPH2 (I354V +1 more)	Single nucleotide variant (missense variant +2 more)	Fabry disease	GLikely benign
Select item 217410	NM_000169.3(GLA):c.1055C>G (p.Ala352Gly)	RPL36A-HNRNPH2, GLA (A352G +1 more)	Single nucleotide variant (missense variant +2 more)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 1324471	NM_000169.3(GLA):c.1028C>T (p.Pro343Leu)	GLA, RPL36A-HNRNPH2 (P343L +1 more)	Single nucleotide variant (non-coding transcript variant +2 more)	Fabry disease +1 more	GConflicting classifications of pathogenicity
Select item 222122	NM_000169.3(GLA):c.1016T>C (p.Val339Ala)	GLA, RPL36A-HNRNPH2 (V339A +1 more)	Single nucleotide variant (missense variant +2 more)	Fabry disease	GUncertain significance
Select item 516472	NM_000169.3(GLA):c.1008C>T (p.Asn336=)	GLA, RPL36A-HNRNPH2	Single nucleotide variant (synonymous variant +2 more)	not specified +2 more	GLikely benign
Select item 373666	NM_000169.3(GLA):c.994_995delinsGA (p.Arg332Glu)	RPL36A-HNRNPH2, GLA (R332E +1 more)	Indel (missense variant +2 more)	not provided +3 more	GUncertain significance
Select item 180828	NM_000169.3(GLA):c.991C>T (p.Leu331Phe)	GLA, RPL36A-HNRNPH2 (L331F +1 more)	Single nucleotide variant (missense variant +2 more)	Cardiovascular phenotype +2 more	GConflicting classifications of pathogenicity
Select item 42466	NM_000169.3(GLA):c.978G>A (p.Lys326=)	GLA, RPL36A-HNRNPH2	Single nucleotide variant (synonymous variant +2 more)	Fabry disease +3 more	GBenign/Likely benign
Select item 2773412	NM_000169.3(GLA):c.970T>G (p.Leu324Val)	GLA, RPL36A-HNRNPH2 (L324V +1 more)	Single nucleotide variant (missense variant +2 more)	Fabry disease	GUncertain significance
Select item 217406	NM_000169.3(GLA):c.968C>G (p.Pro323Arg)	GLA, RPL36A-HNRNPH2 (P323R +1 more)	Single nucleotide variant (missense variant +2 more)	Fabry disease +1 more	GUncertain significance
Select item 1171619	NM_000169.3(GLA):c.963G>A (p.Gln321=)	GLA, RPL36A-HNRNPH2	Single nucleotide variant (synonymous variant +2 more)	Fabry disease	GLikely benign
Select item 42465	NM_000169.3(GLA):c.945C>T (p.Asp315=)	GLA, RPL36A-HNRNPH2	Single nucleotide variant (synonymous variant +2 more)	Fabry disease +3 more	GConflicting classifications of pathogenicity
Select item 10738	NM_000169.3(GLA):c.937G>T (p.Asp313Tyr)	GLA, RPL36A-HNRNPH2 (D313Y +1 more)	Single nucleotide variant (missense variant +2 more)	not specified +6 more	GConflicting classifications of pathogenicity; other
Select item 923906	NM_000169.3(GLA):c.915T>C (p.Pro305=)	GLA, RPL36A-HNRNPH2	Single nucleotide variant (synonymous variant +2 more)	Fabry disease	GLikely benign
Select item 629461	NM_000169.3(GLA):c.914C>T (p.Pro305Leu)	GLA, RPL36A-HNRNPH2 (P305L +1 more)	Single nucleotide variant (missense variant +2 more)	Fabry disease	GUncertain significance
Select item 925874	NM_000169.3(GLA):c.911G>C (p.Ser304Thr)	GLA, RPL36A-HNRNPH2 (S304T +1 more)	Single nucleotide variant (missense variant +2 more)	Fabry disease	GUncertain significance
Select item 926900	NM_000169.3(GLA):c.906C>T (p.His302=)	GLA, RPL36A-HNRNPH2	Single nucleotide variant (synonymous variant +2 more)	Fabry disease	GLikely benign
Select item 222444	NM_000169.3(GLA):c.894T>C (p.Asn298=)	GLA, RPL36A-HNRNPH2	Single nucleotide variant (synonymous variant +2 more)	Fabry disease	GLikely benign
Select item 703448	NM_000169.3(GLA):c.891T>C (p.Ser297=)	RPL36A-HNRNPH2, GLA	Single nucleotide variant (synonymous variant +2 more)	Fabry disease	GLikely benign
Select item 10717	NM_000169.3(GLA):c.886A>G (p.Met296Val)	GLA, RPL36A-HNRNPH2 (M296V +1 more)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 222434	NM_000169.3(GLA):c.868A>C (p.Met290Leu)	GLA, RPL36A-HNRNPH2 (M290L +1 more)	Single nucleotide variant (missense variant +2 more)	Fabry disease +2 more	GPathogenic/Likely pathogenic
Select item 217400	NM_000169.3(GLA):c.865A>G (p.Ile289Val)	GLA, RPL36A-HNRNPH2 (I289V +1 more)	Single nucleotide variant (missense variant +2 more)	Cardiovascular phenotype +3 more	GConflicting classifications of pathogenicity
Select item 222422	NM_000169.3(GLA):c.858C>T (p.Leu286=)	GLA, RPL36A-HNRNPH2	Single nucleotide variant (synonymous variant +2 more)	Fabry disease	GLikely benign
Select item 923999	NM_000169.3(GLA):c.822C>T (p.Gly274=)	GLA, RPL36A-HNRNPH2	Single nucleotide variant (synonymous variant +2 more)	Fabry disease	GLikely benign
Select item 2748478	NM_000169.3(GLA):c.819T>C (p.Phe273=)	GLA, RPL36A-HNRNPH2	Single nucleotide variant (synonymous variant +2 more)	Fabry disease	GLikely benign
Select item 918787	NM_000169.3(GLA):c.802-6T>G	GLA, RPL36A-HNRNPH2	Single nucleotide variant (intron variant)	Fabry disease	GLikely benign
Select item 925372	NM_000169.3(GLA):c.802-10T>G	GLA, RPL36A-HNRNPH2	Single nucleotide variant (intron variant)	Fabry disease	GConflicting classifications of pathogenicity
Select item 222380	NM_000169.3(GLA):c.755G>C (p.Arg252Thr)	GLA, RPL36A-HNRNPH2 (R252T +1 more)	Single nucleotide variant (missense variant +2 more)	Cardiovascular phenotype +2 more	GConflicting classifications of pathogenicity
Select item 217396	NM_000169.3(GLA):c.724A>G (p.Ile242Val)	GLA, RPL36A-HNRNPH2 (I242V +1 more)	Single nucleotide variant (missense variant +2 more)	Fabry disease +2 more	GUncertain significance
Select item 180829	NM_000169.3(GLA):c.721A>G (p.Ser241Gly)	GLA, RPL36A-HNRNPH2 (S241G +1 more)	Single nucleotide variant (missense variant +2 more)	Fabry disease +1 more	GConflicting classifications of pathogenicity
Select item 925251	NM_000169.3(GLA):c.717A>G (p.Ile239Met)	GLA, RPL36A-HNRNPH2 (I239M +1 more)	Single nucleotide variant (missense variant +2 more)	Fabry disease	GConflicting classifications of pathogenicity
Select item 42460	NM_000169.3(GLA):c.714T>C (p.Ser238=)	GLA, RPL36A-HNRNPH2	Single nucleotide variant (synonymous variant +2 more)	Cardiovascular phenotype +4 more	GConflicting classifications of pathogenicity
Select item 918689	NM_000169.3(GLA):c.679C>A (p.Arg227=)	GLA, RPL36A-HNRNPH2	Single nucleotide variant (synonymous variant +2 more)	Fabry disease	GLikely benign
Select item 1332305	NM_000169.3(GLA):c.673C>T (p.His225Tyr)	GLA, RPL36A-HNRNPH2 (H225Y +1 more)	Single nucleotide variant (missense variant +2 more)	Fabry disease	GUncertain significance
Select item 222360	NM_000169.3(GLA):c.659G>A (p.Arg220Gln)	GLA, RPL36A-HNRNPH2 (R220Q +1 more)	Single nucleotide variant (missense variant +2 more)	Cardiomyopathy +1 more	GUncertain significance
Select item 10730	NM_000169.3(GLA):c.644A>G (p.Asn215Ser)	GLA, RPL36A-HNRNPH2 (N215S +1 more)	Single nucleotide variant (missense variant +2 more)	not provided +4 more	GPathogenic
Select item 237124	NM_000169.3(GLA):c.640-11T>C	GLA, RPL36A-HNRNPH2	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 10768	NM_000169.3(GLA):c.640-801G>A	GLA, RPL36A-HNRNPH2	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +4 more	GPathogenic
Select item 42457	NM_000169.3(GLA):c.639+6A>C	GLA, RPL36A-HNRNPH2	Single nucleotide variant (intron variant)	Fabry disease +1 more	GConflicting classifications of pathogenicity
Select item 1332431	NM_000169.3(GLA):c.624G>T (p.Met208Ile)	GLA, RPL36A-HNRNPH2 (M208I +1 more)	Single nucleotide variant (missense variant +2 more)	Fabry disease	GUncertain significance
Select item 167141	NM_000169.3(GLA):c.619T>C (p.Tyr207His)	GLA, RPL36A-HNRNPH2 (Y248H)	Single nucleotide variant (missense variant +2 more)	Fabry disease +4 more	GConflicting classifications of pathogenicity
Select item 520522	NM_000169.3(GLA):c.616C>T (p.Leu206Phe)	GLA, RPL36A-HNRNPH2 (L206F +1 more)	Single nucleotide variant (missense variant +2 more)	Primary familial hypertrophic cardiomyopathy +2 more	GUncertain significance
Select item 927590	NM_000169.3(GLA):c.601T>G (p.Ser201Ala)	GLA, RPL36A-HNRNPH2 (S201A +1 more)	Single nucleotide variant (missense variant +2 more)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 919354	NM_000169.3(GLA):c.597G>A (p.Val199=)	GLA, RPL36A-HNRNPH2	Single nucleotide variant (synonymous variant +2 more)	Fabry disease +1 more	GLikely benign
Select item 167142	NM_000169.3(GLA):c.593T>C (p.Ile198Thr)	GLA, RPL36A-HNRNPH2 (I239T)	Single nucleotide variant (missense variant +2 more)	Fabry disease +2 more	GConflicting classifications of pathogenicity
Select item 413443	NM_000169.3(GLA):c.591C>T (p.Ser197=)	GLA, RPL36A-HNRNPH2	Single nucleotide variant (synonymous variant +2 more)	Cardiovascular phenotype +2 more	GLikely benign
Select item 928445	NM_000169.3(GLA):c.585C>T (p.Gly195=)	GLA, RPL36A-HNRNPH2	Single nucleotide variant (synonymous variant +2 more)	Fabry disease	GConflicting classifications of pathogenicity
Select item 1171867	NM_000169.3(GLA):c.566T>G (p.Leu189Trp)	GLA, RPL36A-HNRNPH2 (L189W +1 more)	Single nucleotide variant (missense variant +2 more)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 1171503	NM_000169.3(GLA):c.544G>A (p.Asp182Asn)	RPL36A-HNRNPH2, GLA (D182N +1 more)	Single nucleotide variant (missense variant +2 more)	Fabry disease	GUncertain significance
Select item 920472	NM_000169.3(GLA):c.526A>G (p.Ser176Gly)	RPL36A-HNRNPH2, GLA (S176G +1 more)	Single nucleotide variant (missense variant +2 more)	Fabry disease	GUncertain significance
Select item 835100	NM_000169.3(GLA):c.525C>A (p.Asp175Glu)	GLA, RPL36A-HNRNPH2 (D175E +1 more)	Single nucleotide variant (missense variant +2 more)	Fabry disease +2 more	GUncertain significance
Select item 573833	NM_000169.3(GLA):c.525C>G (p.Asp175Glu)	GLA, RPL36A-HNRNPH2 (D175E +1 more)	Single nucleotide variant (missense variant +2 more)	GLA-related disorder +3 more	GConflicting classifications of pathogenicity
Select item 924167	NM_000169.3(GLA):c.475T>C (p.Phe159Leu)	GLA, RPL36A-HNRNPH2 (F159L +1 more)	Single nucleotide variant (missense variant +2 more)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 922724	NM_000169.3(GLA):c.475T>G (p.Phe159Val)	GLA, RPL36A-HNRNPH2 (F159V +1 more)	Single nucleotide variant (missense variant +2 more)	Fabry disease	GUncertain significance
Select item 222261	NM_000169.3(GLA):c.465T>C (p.Asp155=)	GLA, RPL36A-HNRNPH2	Single nucleotide variant (synonymous variant +2 more)	Cardiovascular phenotype +1 more	GLikely benign
Select item 920780	NM_000169.3(GLA):c.427G>T (p.Ala143Ser)	GLA, RPL36A-HNRNPH2 (A143S +1 more)	Single nucleotide variant (missense variant +2 more)	Fabry disease	GUncertain significance
Select item 10748	NM_000169.3(GLA):c.427G>A (p.Ala143Thr)	GLA, RPL36A-HNRNPH2 (A143T +1 more)	Single nucleotide variant (missense variant +2 more)	not specified +5 more	GConflicting classifications of pathogenicity
Select item 222253	NM_000169.3(GLA):c.416A>G (p.Asn139Ser)	GLA, RPL36A-HNRNPH2 (N139S +1 more)	Single nucleotide variant (missense variant +2 more)	Cardiovascular phenotype +2 more	GLikely benign
Select item 453316	NM_000169.3(GLA):c.402T>C (p.Tyr134=)	GLA, RPL36A-HNRNPH2	Single nucleotide variant (synonymous variant +2 more)	Fabry disease +1 more	GLikely benign
Select item 163547	NM_000169.3(GLA):c.376A>G (p.Ser126Gly)	GLA, RPL36A-HNRNPH2 (S126G +1 more)	Single nucleotide variant (missense variant +2 more)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 1332260	NM_000169.3(GLA):c.375C>T (p.His125=)	GLA, RPL36A-HNRNPH2	Single nucleotide variant (synonymous variant +2 more)	Fabry disease	GLikely benign
Select item 222224	NM_000169.3(GLA):c.369T>C (p.Tyr123=)	GLA, RPL36A-HNRNPH2	Single nucleotide variant (synonymous variant +2 more)	Fabry disease	GLikely benign
Select item 222219	NM_000169.3(GLA):c.353G>A (p.Arg118His)	GLA, RPL36A-HNRNPH2 (R118H +1 more)	Single nucleotide variant (missense variant +2 more)	Fabry disease	GUncertain significance
Select item 42454	NM_000169.3(GLA):c.352C>T (p.Arg118Cys)	GLA, RPL36A-HNRNPH2 (R118C +1 more)	Single nucleotide variant (missense variant +2 more)	Cardiovascular phenotype +4 more	GConflicting classifications of pathogenicity
Select item 386328	NM_000169.3(GLA):c.345T>C (p.His115=)	GLA, RPL36A-HNRNPH2	Single nucleotide variant (synonymous variant +2 more)	Fabry disease +1 more	GLikely benign
Select item 195028	NM_000169.3(GLA):c.335G>A (p.Arg112His)	GLA, HNRNPH2 +1 more (R112H +1 more)	Single nucleotide variant (missense variant +2 more)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 222215	NM_000169.3(GLA):c.330T>G (p.Pro110=)	GLA, RPL36A-HNRNPH2	Single nucleotide variant (synonymous variant +2 more)	Fabry disease	GLikely benign
Select item 179696	NM_000169.3(GLA):c.320A>G (p.Gln107Arg)	GLA, RPL36A-HNRNPH2 (Q107R +1 more)	Single nucleotide variant (missense variant +2 more)	Fabry disease +2 more	GConflicting classifications of pathogenicity
Select item 923554	NM_000169.3(GLA):c.259G>A (p.Glu87Lys)	RPL36A-HNRNPH2, GLA (E87K +1 more)	Single nucleotide variant (missense variant +2 more)	Fabry disease	GUncertain significance
Select item 222202	NM_000169.3(GLA):c.247G>A (p.Asp83Asn)	GLA, RPL36A-HNRNPH2 (D83N +1 more)	Single nucleotide variant (missense variant +2 more)	Cardiovascular phenotype +2 more	GConflicting classifications of pathogenicity
Select item 217380	NM_000169.3(GLA):c.239G>A (p.Gly80Asp)	GLA, RPL36A-HNRNPH2 (G80D +1 more)	Single nucleotide variant (missense variant +2 more)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 2773413	NM_000169.3(GLA):c.209T>C (p.Met70Thr)	GLA, RPL36A-HNRNPH2 (M70T +1 more)	Single nucleotide variant (missense variant +2 more)	Fabry disease	GUncertain significance
Select item 1172250	NM_000169.3(GLA):c.208A>G (p.Met70Val)	GLA, RPL36A-HNRNPH2 (M70V +1 more)	Single nucleotide variant (missense variant +2 more)	Fabry disease +1 more	GUncertain significance
Select item 163548	NM_000169.3(GLA):c.196G>C (p.Glu66Gln)	GLA, RPL36A-HNRNPH2 (E66Q +1 more)	Single nucleotide variant (missense variant +2 more)	Cardiovascular phenotype +3 more	GConflicting classifications of pathogenicity
Select item 222195	NM_000169.3(GLA):c.195T>C (p.Ser65=)	GLA, RPL36A-HNRNPH2	Single nucleotide variant (synonymous variant +2 more)	Cardiovascular phenotype +2 more	GLikely benign
Select item 927692	NM_000169.3(GLA):c.194+6A>G	GLA, RPL36A-HNRNPH2	Single nucleotide variant (intron variant)	Fabry disease	GConflicting classifications of pathogenicity
Select item 918798	NM_000169.3(GLA):c.181G>A (p.Asp61Asn)	GLA, RPL36A-HNRNPH2 (D61N)	Single nucleotide variant (missense variant +2 more)	Fabry disease	GUncertain significance
Select item 923266	NM_000169.3(GLA):c.177G>A (p.Glu59=)	GLA, RPL36A-HNRNPH2	Single nucleotide variant (synonymous variant +2 more)	Cardiovascular phenotype +1 more	GLikely benign

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