"GeneDx"[submitter] AND "GLA"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 145168	GRCh38/hg38 Xq21.1-28(chrX:78605009-156016560)x1	LOC125467786, LOC125467787 +1203 more	Copy number loss	See cases	GPathogenic
Select item 58661	GRCh38/hg38 Xq21.1-25(chrX:81261589-126519353)x3	LOC126863293, LOC126863294 +478 more	Copy number gain	See cases	GPathogenic
Select item 57972	GRCh38/hg38 Xq22.1(chrX:101323599-101596196)x1	ARMCX1, ARMCX4 +10 more	Copy number loss	See cases	GPathogenic
Select item 60352	GRCh38/hg38 Xq22.1(chrX:101359634-101641294)x2	ARMCX1, ARMCX3 +12 more	Copy number gain	See cases	GUncertain significance
Select item 1178497	NC_000023.11:g.101397534C>T	GLA, RPL36A-HNRNPH2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1202191	NC_000023.11:g.101397549C>T	GLA, RPL36A-HNRNPH2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1293345	NC_000023.11:g.101397570dup	GLA, RPL36A-HNRNPH2	Duplication (intron variant)	not provided	GBenign
Select item 1241572	NC_000023.11:g.101397655C>T	GLA, RPL36A-HNRNPH2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1187221	NC_000023.11:g.101397760T>C	GLA, RPL36A-HNRNPH2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1268269	NC_000023.11:g.101397776C>T	GLA, RPL36A-HNRNPH2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 451478	NM_000169.3(GLA):c.1285del (p.Leu429fs)	RPL36A-HNRNPH2, GLA (L429fs +1 more)	Deletion (frameshift variant +2 more)	Fabry disease	GLikely pathogenic
Select item 515170	NM_000169.3(GLA):c.1261A>G (p.Met421Val)	GLA, RPL36A-HNRNPH2 (M421V +1 more)	Single nucleotide variant (missense variant +2 more)	Cardiovascular phenotype +2 more	GConflicting classifications of pathogenicity
Select item 246044	NM_000169.3(GLA):c.1255A>G (p.Asn419Asp)	GLA, RPL36A-HNRNPH2 (N419D +1 more)	Single nucleotide variant (missense variant +2 more)	not provided +3 more	GUncertain significance
Select item 419956	NM_000169.3(GLA):c.1241T>C (p.Leu414Ser)	GLA, RPL36A-HNRNPH2 (L414S +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GLikely pathogenic
Select item 222156	NM_000169.3(GLA):c.1191T>C (p.Tyr397=)	GLA, RPL36A-HNRNPH2	Single nucleotide variant (synonymous variant +2 more)	not specified +1 more	GLikely benign
Select item 245806	NM_000169.3(GLA):c.1188del (p.Tyr397fs)	GLA, RPL36A-HNRNPH2 (Y397fs +1 more)	Deletion (frameshift variant +2 more)	not provided +1 more	GPathogenic
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 2502039	NM_000169.3(GLA):c.1156C>T (p.Gln386Ter)	GLA, RPL36A-HNRNPH2 (Q386* +1 more)	Single nucleotide variant (nonsense +2 more)	not provided	GLikely pathogenic
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 234993	NM_000169.3(GLA):c.1125_1140del (p.Val376fs)	GLA, RPL36A-HNRNPH2 (V417fs)	Deletion (frameshift variant +2 more)	Fabry disease +1 more	GPathogenic
Select item 450427	NM_000169.3(GLA):c.1127T>A (p.Val376Glu)	GLA, RPL36A-HNRNPH2 (V376E +1 more)	Single nucleotide variant (missense variant +2 more)	Fabry disease +1 more	GUncertain significance
Select item 222145	NM_000169.3(GLA):c.1118G>A (p.Gly373Asp)	GLA, RPL36A-HNRNPH2 (G373D +1 more)	Single nucleotide variant (missense variant +2 more)	Fabry disease +1 more	GPathogenic
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 449838	NM_000169.3(GLA):c.1093T>A (p.Tyr365Asn)	GLA, RPL36A-HNRNPH2 (Y365N +1 more)	Single nucleotide variant (missense variant +2 more)	not specified +3 more	GUncertain significance
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 180832	NM_000169.3(GLA):c.1085C>T (p.Pro362Leu)	GLA, RPL36A-HNRNPH2 (P362L +1 more)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 245750	NM_000169.3(GLA):c.1081G>A (p.Gly361Arg)	GLA, RPL36A-HNRNPH2 (G361R +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GPathogenic
Select item 180844	NM_000169.3(GLA):c.1072_1074del (p.Glu358del)	GLA, RPL36A-HNRNPH2 (E358del +1 more)	Deletion (inframe_indel +3 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 10713	NM_000169.3(GLA):c.1066C>T (p.Arg356Trp)	GLA, RPL36A-HNRNPH2 (R356W +1 more)	Single nucleotide variant (missense variant +2 more)	not provided +2 more	GPathogenic
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 992222	NM_000169.3(GLA):c.1046G>A (p.Trp349Ter)	GLA, RPL36A-HNRNPH2 (W349* +1 more)	Single nucleotide variant (nonsense +2 more)	Fabry disease +1 more	GPathogenic
Select item 245896	NM_000169.3(GLA):c.1037del (p.Gly346fs)	RPL36A-HNRNPH2, GLA (G346fs +1 more)	Deletion (frameshift variant +2 more)	not provided	GPathogenic
Select item 92538	NM_000169.3(GLA):c.1033_1034del (p.Ser345fs)	GLA, RPL36A-HNRNPH2 (S345fs +1 more)	Microsatellite (frameshift variant +2 more)	not provided +1 more	GPathogenic
Select item 10743	NM_000169.3(GLA):c.1024C>T (p.Arg342Ter)	GLA, RPL36A-HNRNPH2 (R342* +1 more)	Single nucleotide variant (nonsense +2 more)	not provided +2 more	GPathogenic
Select item 92537	NM_000169.3(GLA):c.1019_1020insA (p.Trp340Ter)	GLA, RPL36A-HNRNPH2 (W340* +1 more)	Insertion (nonsense +2 more)	Fabry disease +1 more	GPathogenic/Likely pathogenic
Select item 546086	NM_000169.3(GLA):c.1018T>C (p.Trp340Arg)	RPL36A-HNRNPH2, GLA (W340R +1 more)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GPathogenic/Likely pathogenic
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 222112	NM_000169.3(GLA):c.1000-22C>T	GLA, RPL36A-HNRNPH2	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 1263704	NM_000169.3(GLA):c.1000-67del	GLA, RPL36A-HNRNPH2	Deletion (intron variant)	not provided	GBenign
Select item 1263236	NM_000169.3(GLA):c.999+67del	GLA, RPL36A-HNRNPH2 (S356fs)	Deletion (frameshift variant +1 more)	not provided	GBenign
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 386764	NM_000169.3(GLA):c.984G>T (p.Gly328=)	GLA, RPL36A-HNRNPH2	Single nucleotide variant (synonymous variant +2 more)	Fabry disease +2 more	GLikely benign
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 92574	NM_000169.3(GLA):c.974G>A (p.Gly325Asp)	GLA, RPL36A-HNRNPH2 (G366D)	Single nucleotide variant (missense variant +2 more)	Fabry disease +1 more	GPathogenic/Likely pathogenic
Select item 222460	NM_000169.3(GLA):c.967C>A (p.Pro323Thr)	GLA, RPL36A-HNRNPH2 (P323T +1 more)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GUncertain significance
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 217402	NM_000169.3(GLA):c.937G>A (p.Asp313Asn)	GLA, RPL36A-HNRNPH2 (D313N +1 more)	Single nucleotide variant (missense variant +2 more)	Cardiovascular phenotype +2 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)	Hypertrophic cardiomyopathy +6 more	GConflicting classifications of pathogenicity; other
Select item 217401	NM_000169.3(GLA):c.926C>T (p.Ala309Val)	GLA, RPL36A-HNRNPH2 (A309V +1 more)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GUncertain significance
Select item 10715	NM_000169.3(GLA):c.902G>A (p.Arg301Gln)	RPL36A-HNRNPH2, GLA (R301Q +1 more)	Single nucleotide variant (missense variant +2 more)	Primary familial hypertrophic cardiomyopathy +3 more	GPathogenic
Select item 92570	NM_000169.3(GLA):c.901C>T (p.Arg301Ter)	GLA, RPL36A-HNRNPH2 (R301* +1 more)	Single nucleotide variant (nonsense +2 more)	not provided +1 more	GPathogenic
Select item 839647	NM_000169.3(GLA):c.889T>C (p.Ser297Pro)	GLA, RPL36A-HNRNPH2 (S297P +1 more)	Single nucleotide variant (missense variant +2 more)	Fabry disease +1 more	GPathogenic/Likely pathogenic
Select item 2737313	NM_000169.3(GLA):c.886A>T (p.Met296Leu)	GLA, RPL36A-HNRNPH2 (M296L +1 more)	Single nucleotide variant (missense variant +2 more)	Fabry disease +1 more	GPathogenic/Likely pathogenic
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 222436	NM_000169.3(GLA):c.870G>C (p.Met290Ile)	GLA, RPL36A-HNRNPH2 (M290I +1 more)	Single nucleotide variant (missense variant +2 more)	Fabry disease +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 180843	NM_000169.3(GLA):c.847C>T (p.Gln283Ter)	GLA, RPL36A-HNRNPH2 (Q283* +1 more)	Single nucleotide variant (nonsense +2 more)	Fabry disease +1 more	GPathogenic
Select item 524215	NM_000169.3(GLA):c.828C>A (p.Ser276Arg)	GLA, RPL36A-HNRNPH2 (S276R +1 more)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GLikely pathogenic
Select item 1261020	NM_000169.3(GLA):c.802-18T>A	GLA, RPL36A-HNRNPH2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 42463	NM_000169.3(GLA):c.801+14C>T	GLA, RPL36A-HNRNPH2	Single nucleotide variant (intron variant)	Fabry disease +1 more	GConflicting classifications of pathogenicity
Select item 197639	NM_000169.3(GLA):c.801+3A>G	GLA, RPL36A-HNRNPH2	Single nucleotide variant (intron variant)	Fabry disease +1 more	GPathogenic/Likely pathogenic
Select item 180842	NM_000169.3(GLA):c.801G>A (p.Met267Ile)	GLA, RPL36A-HNRNPH2 (M267I +1 more)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GPathogenic
Select item 92565	NM_000169.3(GLA):c.734G>T (p.Trp245Leu)	GLA, RPL36A-HNRNPH2 (W286L)	Single nucleotide variant (missense variant +2 more)	Fabry disease +1 more	GUncertain significance
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 222371	NM_000169.3(GLA):c.718_719del (p.Lys240fs)	GLA, RPL36A-HNRNPH2 (K240fs +1 more)	Deletion (frameshift variant +2 more)	Fabry disease +1 more	GPathogenic
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 180841	NM_000169.3(GLA):c.713G>A (p.Ser238Asn)	GLA, RPL36A-HNRNPH2 (S238N +1 more)	Single nucleotide variant (missense variant +2 more)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 245967	NM_000169.3(GLA):c.707G>A (p.Trp236Ter)	GLA, RPL36A-HNRNPH2 (W236* +1 more)	Single nucleotide variant (nonsense +2 more)	Fabry disease +1 more	GPathogenic
Select item 928486	NM_000169.3(GLA):c.706T>C (p.Trp236Arg)	GLA, RPL36A-HNRNPH2 (W236R +1 more)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 392607	NM_000169.3(GLA):c.700G>A (p.Asp234Asn)	GLA, RPL36A-HNRNPH2 (D234N +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 197640	NM_000169.3(GLA):c.695T>G (p.Ile232Ser)	GLA, RPL36A-HNRNPH2 (I232S +1 more)	Single nucleotide variant (missense variant +2 more)	Fabry disease +1 more	GUncertain significance
Select item 10732	NM_000169.3(GLA):c.680G>A (p.Arg227Gln)	GLA, RPL36A-HNRNPH2 (R268Q)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GPathogenic
Select item 10733	NM_000169.3(GLA):c.679C>T (p.Arg227Ter)	GLA, RPL36A-HNRNPH2 (R227* +1 more)	Single nucleotide variant (nonsense +2 more)	Fabry disease +1 more	GPathogenic
Select item 962893	NM_000169.3(GLA):c.646T>G (p.Tyr216Asp)	GLA, RPL36A-HNRNPH2 (Y216D +1 more)	Single nucleotide variant (missense variant +2 more)	Fabry disease +1 more	GPathogenic
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)	Cardiomyopathy +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 92559	NM_000169.3(GLA):c.640-16A>G	GLA, RPL36A-HNRNPH2	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 1250122	NM_000169.3(GLA):c.640-133G>A	GLA, RPL36A-HNRNPH2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 674581	NM_000169.3(GLA):c.640-136T>C	GLA, RPL36A-HNRNPH2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 674580	NM_000169.3(GLA):c.640-201_640-196del	GLA, RPL36A-HNRNPH2	Deletion (intron variant)	not provided	GBenign
Select item 1238574	NM_000169.3(GLA):c.640-319A>G	GLA, RPL36A-HNRNPH2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3342849	NM_000169.3(GLA):c.640-394C>T	GLA, RPL36A-HNRNPH2	Single nucleotide variant (intron variant)	not provided	GLikely pathogenic
Select item 1204152	NM_000169.3(GLA):c.640-532G>A	GLA, RPL36A-HNRNPH2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1217858	NM_000169.3(GLA):c.640-607G>T	GLA, RPL36A-HNRNPH2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1252230	NM_000169.3(GLA):c.640-611_640-610del	GLA, RPL36A-HNRNPH2	Deletion (intron variant)	not provided	GBenign
Select item 385655	NM_000169.3(GLA):c.640-731G>A	GLA, RPL36A-HNRNPH2	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 679793	NM_000169.3(GLA):c.640-749C>T	GLA, RPL36A-HNRNPH2	Single nucleotide variant (intron variant)	not provided	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 42458	NM_000169.3(GLA):c.640-854_640-853del	GLA, RPL36A-HNRNPH2	Microsatellite (intron variant)	not provided +3 more	GBenign
Select item 668574	NM_000169.3(GLA):c.639+858C>G	GLA, RPL36A-HNRNPH2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 222338	NM_000169.3(GLA):c.639+796C>A	GLA, RPL36A-HNRNPH2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1235721	NM_000169.3(GLA):c.639+771C>T	GLA, RPL36A-HNRNPH2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 677281	NM_000169.3(GLA):c.639+739C>T	GLA, RPL36A-HNRNPH2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1275736	NM_000169.3(GLA):c.639+68A>G	GLA, RPL36A-HNRNPH2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1284295	NM_000169.3(GLA):c.639+18G>A	GLA, RPL36A-HNRNPH2	Single nucleotide variant (intron variant)	Fabry disease +1 more	GBenign

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