"GeneDx"[submitter] AND "PYROXD1"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1194082	NC_000012.12:g.21437267G>C	PYROXD1	Single nucleotide variant	not provided	GLikely benign
Select item 1241924	NC_000012.12:g.21437292A>G	PYROXD1	Single nucleotide variant	not provided	GBenign
Select item 1229961	NC_000012.12:g.21437311T>C	PYROXD1	Single nucleotide variant	not provided	GBenign
Select item 1225491	NC_000012.12:g.21437463T>C	PYROXD1	Single nucleotide variant	not provided	GBenign
Select item 1271382	NC_000012.12:g.21437556G>A	LOC130007526, PYROXD1	Single nucleotide variant	not provided	GBenign
Select item 1190155	NC_000012.12:g.21437613A>T	PYROXD1	Single nucleotide variant	not provided	GLikely benign
Select item 1228725	NC_000012.12:g.21437623A>C	LOC130007527, PYROXD1	Single nucleotide variant	not provided	GBenign
Select item 1199668	NM_024854.5(PYROXD1):c.-65C>T	LOC130007527, PYROXD1	Single nucleotide variant (5 prime UTR variant)	not provided	GLikely benign
Select item 1301018	NM_024854.5(PYROXD1):c.-54_-53del	LOC130007527, PYROXD1	Deletion (5 prime UTR variant)	not provided	GLikely benign
Select item 1277227	NM_024854.5(PYROXD1):c.-44T>C	LOC130007527, PYROXD1	Single nucleotide variant (5 prime UTR variant)	Myofibrillar myopathy 8 +1 more	GBenign
Select item 1253388	NM_024854.5(PYROXD1):c.84+40C>A	PYROXD1	Single nucleotide variant (intron variant)	Myofibrillar myopathy 8 +1 more	GBenign
Select item 1183822	NM_024854.5(PYROXD1):c.84+281G>C	PYROXD1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1203918	NM_024854.5(PYROXD1):c.85-295G>C	PYROXD1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1265652	NM_024854.5(PYROXD1):c.85-265T>C	PYROXD1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1706359	NM_024854.5(PYROXD1):c.154A>T (p.Asn52Tyr)	PYROXD1 (N52Y)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1262420	NM_024854.5(PYROXD1):c.165+22G>C	PYROXD1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1273804	NM_024854.5(PYROXD1):c.165+143A>G	PYROXD1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1236868	NM_024854.5(PYROXD1):c.165+219del	PYROXD1	Deletion (intron variant)	not provided	GBenign
Select item 1297819	NM_024854.5(PYROXD1):c.166-86G>A	PYROXD1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1289390	NM_024854.5(PYROXD1):c.166-17C>T	PYROXD1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 372278	NM_024854.5(PYROXD1):c.285+1G>A	PYROXD1	Single nucleotide variant (splice donor variant)	Myofibrillar myopathy 8 +1 more	GPathogenic/Likely pathogenic
Select item 1278774	NM_024854.5(PYROXD1):c.285+74C>G	PYROXD1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1301017	NM_024854.5(PYROXD1):c.285+92C>G	PYROXD1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1280892	NM_024854.5(PYROXD1):c.285+126A>G	PYROXD1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1288703	NM_024854.5(PYROXD1):c.285+301T>C	PYROXD1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1203678	NM_024854.5(PYROXD1):c.286-260T>C	PYROXD1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1272776	NM_024854.5(PYROXD1):c.286-196del	PYROXD1	Deletion (intron variant)	not provided	GBenign
Select item 1190527	NM_024854.5(PYROXD1):c.286-60A>G	PYROXD1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2498275	NM_024854.5(PYROXD1):c.334_337del (p.Leu112fs)	PYROXD1 (L112fs +1 more)	Microsatellite (frameshift variant +1 more)	not provided	GPathogenic
Select item 1327287	NM_024854.5(PYROXD1):c.365G>A (p.Cys122Tyr)	PYROXD1 (C122Y +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 1404407	NM_024854.5(PYROXD1):c.367G>A (p.Glu123Lys)	PYROXD1 (E123K +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1228569	NM_024854.5(PYROXD1):c.414+173_414+184del	PYROXD1	Deletion (intron variant)	not provided	GBenign
Select item 1265602	NM_024854.5(PYROXD1):c.414+171T>C	PYROXD1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1246523	NM_024854.5(PYROXD1):c.414+190G>A	PYROXD1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1191580	NM_024854.5(PYROXD1):c.414+235C>T	PYROXD1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1190236	NM_024854.5(PYROXD1):c.414+236G>A	PYROXD1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1236813	NM_024854.5(PYROXD1):c.414+318C>T	PYROXD1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1281637	NM_024854.5(PYROXD1):c.414+330C>T	PYROXD1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1247247	NM_024854.5(PYROXD1):c.415-275C>T	PYROXD1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1283711	NM_024854.5(PYROXD1):c.415-236A>G	PYROXD1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1300364	NM_024854.5(PYROXD1):c.415-208A>T	PYROXD1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 372280	NM_024854.5(PYROXD1):c.464A>G (p.Asn155Ser)	PYROXD1 (N155S +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GPathogenic
Select item 1234045	NM_024854.5(PYROXD1):c.488+29_488+30dup	PYROXD1	Duplication (intron variant)	not provided	GBenign
Select item 1279492	NM_024854.5(PYROXD1):c.488+46A>G	PYROXD1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1269520	NM_024854.5(PYROXD1):c.488+69A>C	PYROXD1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1309055	NM_024854.5(PYROXD1):c.488+172C>T	PYROXD1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1261647	NM_024854.5(PYROXD1):c.488+231A>G	PYROXD1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1279963	NM_024854.5(PYROXD1):c.488+278G>T	PYROXD1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1208676	NM_024854.5(PYROXD1):c.489-276T>C	PYROXD1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1226573	NM_024854.5(PYROXD1):c.489-267C>T	PYROXD1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1263409	NM_024854.5(PYROXD1):c.489-163C>T	PYROXD1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1244862	NM_024854.5(PYROXD1):c.489-55G>T	PYROXD1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1278368	NM_024854.5(PYROXD1):c.489-23A>G	PYROXD1	Single nucleotide variant (intron variant)	Myofibrillar myopathy 8 +1 more	GBenign
Select item 1301016	NM_024854.5(PYROXD1):c.649+146_649+164dup	PYROXD1	Duplication (intron variant)	not provided	GLikely benign
Select item 1241395	NM_024854.5(PYROXD1):c.649+166T>C	PYROXD1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1236420	NM_024854.5(PYROXD1):c.649+171TA[7]	PYROXD1	Microsatellite (intron variant)	not provided	GBenign
Select item 1288724	NM_024854.5(PYROXD1):c.649+293G>A	PYROXD1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1244113	NM_024854.5(PYROXD1):c.650-344T>C	PYROXD1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1194609	NM_024854.5(PYROXD1):c.650-332_650-329del	PYROXD1	Deletion (intron variant)	not provided	GLikely benign
Select item 1279685	NM_024854.5(PYROXD1):c.650-296T>G	PYROXD1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1178200	NM_024854.5(PYROXD1):c.650-197C>T	PYROXD1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1182978	NM_024854.5(PYROXD1):c.650-38T>C	PYROXD1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1384648	NM_024854.5(PYROXD1):c.723A>C (p.Glu241Asp)	PYROXD1 (E170D +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2574704	NM_024854.5(PYROXD1):c.740G>A (p.Gly247Glu)	PYROXD1 (G176E +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely pathogenic
Select item 1236872	NM_024854.5(PYROXD1):c.750+98T>C	PYROXD1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1238461	NM_024854.5(PYROXD1):c.750+151T>G	PYROXD1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1283273	NM_024854.5(PYROXD1):c.750+193G>T	PYROXD1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1182666	NM_024854.5(PYROXD1):c.750+251C>A	PYROXD1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1254092	NM_024854.5(PYROXD1):c.750+259C>T	PYROXD1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1283096	NM_024854.5(PYROXD1):c.750+294C>A	PYROXD1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1258338	NM_024854.5(PYROXD1):c.751-280A>T	PYROXD1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1259038	NM_024854.5(PYROXD1):c.751-92A>G	PYROXD1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1260059	NM_024854.5(PYROXD1):c.751-36T>C	PYROXD1	Single nucleotide variant (intron variant)	Myofibrillar myopathy 8 +1 more	GBenign
Select item 1231504	NM_024854.5(PYROXD1):c.880+57_880+61del	PYROXD1	Deletion (intron variant)	not provided	GBenign
Select item 1183723	NM_024854.5(PYROXD1):c.880+170_880+173del	PYROXD1	Microsatellite (intron variant)	not provided	GBenign
Select item 1279647	NM_024854.5(PYROXD1):c.880+168G>A	PYROXD1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1268048	NM_024854.5(PYROXD1):c.881-341A>G	PYROXD1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1237631	NM_024854.5(PYROXD1):c.881-39A>G	PYROXD1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1254445	NM_024854.5(PYROXD1):c.881-17G>T	PYROXD1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 708210	NM_024854.5(PYROXD1):c.881-6T>G	PYROXD1	Single nucleotide variant (intron variant)	not provided	GBenign/Likely benign
Select item 1221103	NM_024854.5(PYROXD1):c.993+153A>G	PYROXD1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1234117	NM_024854.5(PYROXD1):c.993+194T>G	PYROXD1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1186253	NM_024854.5(PYROXD1):c.993+195G>T	PYROXD1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1260124	NM_024854.5(PYROXD1):c.993+203G>A	PYROXD1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1236349	NM_024854.5(PYROXD1):c.993+214T>C	PYROXD1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1288055	NM_024854.5(PYROXD1):c.993+264C>T	PYROXD1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1279319	NM_024854.5(PYROXD1):c.994-268_994-267del	PYROXD1	Deletion (intron variant)	not provided	GBenign
Select item 1265003	NM_024854.5(PYROXD1):c.994-267del	PYROXD1	Deletion (intron variant)	not provided	GBenign
Select item 1183477	NM_024854.5(PYROXD1):c.994-10T>C	PYROXD1	Single nucleotide variant (intron variant)	Myofibrillar myopathy 8 +1 more	GBenign
Select item 1216654	NM_024854.5(PYROXD1):c.1116+98T>G	PYROXD1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1281831	NM_024854.5(PYROXD1):c.1116+122_1116+123dup	PYROXD1	Duplication (intron variant)	not provided	GBenign
Select item 1239657	NM_024854.5(PYROXD1):c.1116+139A>T	PYROXD1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1245544	NM_024854.5(PYROXD1):c.1116+273_1116+275del	PYROXD1	Deletion (intron variant)	not provided	GBenign
Select item 1175495	NM_024854.5(PYROXD1):c.1116+309C>T	PYROXD1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1220425	NM_024854.5(PYROXD1):c.1254+1del	PYROXD1	Deletion (splice donor variant)	not provided	GLikely pathogenic
Select item 1331144	NM_024854.5(PYROXD1):c.1255-176T>C	PYROXD1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1288584	NM_024854.5(PYROXD1):c.1255-75C>T	PYROXD1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1244568	NM_024854.5(PYROXD1):c.1255-21C>A	PYROXD1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1707879	NC_000012.12:g.21468736AGA[1]	PYROXD1, RECQL (E237del +2 more)	Microsatellite (inframe_deletion)	not provided	GLikely pathogenic
Select item 1252658	NM_024854.5(PYROXD1):c.*49A>G	PYROXD1	Single nucleotide variant (3 prime UTR variant)	Myofibrillar myopathy 8 +1 more	GBenign

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