4556[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58787	GRCh38/hg38 19p13.3(chr19:233565-4699472)x3	LOC116276498, LOC121627842 +687 more	Copy number gain	See cases	GPathogenic
Select item 154560	GRCh38/hg38 19p13.3(chr19:259395-6795611)x3	ABCA7, ABHD17A +903 more	Copy number gain	See cases	GPathogenic
Select item 146110	GRCh38/hg38 19p13.3(chr19:259395-2068507)x3	LOC130062818, LOC130062819 +332 more	Copy number gain	See cases	GPathogenic
Select item 59078	GRCh38/hg38 19p13.3(chr19:259395-1952650)x3	ABCA7, ABHD17A +321 more	Copy number gain	See cases	GPathogenic
Select item 57357	GRCh38/hg38 19p13.3(chr19:259395-2555149)x3	ABCA7, ABHD17A +429 more	Copy number gain	See cases	GPathogenic
Select item 152851	GRCh38/hg38 19p13.3(chr19:275925-1892276)x3	ABCA7, ABHD17A +301 more	Copy number gain	See cases	GPathogenic
Select item 145542	GRCh38/hg38 19p13.3(chr19:421537-2897921)x3	ABCA7, ABHD17A +453 more	Copy number gain	See cases	GLikely pathogenic
Select item 59080	GRCh38/hg38 19p13.3(chr19:591812-1358152)x3	ABCA7, ARHGAP45 +168 more	Copy number gain	See cases	GPathogenic
Select item 147565	GRCh38/hg38 19p13.3(chr19:786550-1297500)x1	ABCA7, ARHGAP45 +136 more	Copy number loss	See cases	GPathogenic
Select item 60066	GRCh38/hg38 19p13.3(chr19:945098-1972299)x1	LOC130062906, LOC130062907 +222 more	Copy number loss	See cases	GPathogenic
Select item 151474	GRCh38/hg38 19p13.3(chr19:1039558-1161676)x3	ABCA7, ARHGAP45 +25 more	Copy number gain	See cases	GLikely benign
Select item 152546	GRCh38/hg38 19p13.3(chr19:1102684-1161676)x3	GPX4, LOC130062883 +5 more	Copy number gain	See cases	GBenign
Select item 151453	GRCh38/hg38 19p13.3(chr19:1102684-1144297)x3	GPX4, LOC130062883 +5 more	Copy number gain	See cases	GBenign
Select item 1182823	NC_000019.10:g.1103631dup	GPX4	Duplication	not provided	GBenign
Select item 1266818	NC_000019.10:g.1103769A>T	GPX4, LOC130062886	Single nucleotide variant	not provided	GBenign
Select item 1293614	NC_000019.10:g.1103783A>G	GPX4, LOC130062886	Single nucleotide variant	not provided	GBenign
Select item 1250296	NC_000019.10:g.1103786C>T	GPX4, LOC130062886	Single nucleotide variant	not provided	GBenign
Select item 1326222	NC_000019.10:g.1103866C>T	GPX4, LOC130062887	Single nucleotide variant	not provided	GLikely benign
Select item 1326145	NC_000019.10:g.1103972C>T	GPX4, LOC130062887	Single nucleotide variant	not provided	GLikely benign
Select item 3050529	NM_002085.5(GPX4):c.-6G>A	GPX4, LOC130062887	Single nucleotide variant (5 prime UTR variant)	GPX4-related disorder	GLikely benign
Select item 2360311	NM_002085.5(GPX4):c.10G>T (p.Gly4Cys)	GPX4, LOC130062887 (G4C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1258000	NM_002085.5(GPX4):c.36G>A (p.Pro12=)	GPX4, LOC130062887	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign
Select item 2322470	NM_002085.5(GPX4):c.61G>A (p.Ala21Thr)	GPX4, LOC130062887 (A21T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2319488	NM_002085.5(GPX4):c.73G>C (p.Ala25Pro)	GPX4, LOC130062887 (A25P)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1174251	NM_002085.5(GPX4):c.84+312G>C	GPX4, LOC130062887	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1241253	NM_002085.5(GPX4):c.84+401C>G	GPX4, LOC130062887	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1231737	NM_002085.5(GPX4):c.84+437G>T	GPX4, LOC130062887	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2699319	NM_002085.5(GPX4):c.85-440G>T	GPX4, LOC130062887	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3102110	NM_002085.5(GPX4):c.85-433G>A	GPX4, LOC130062887 (G7S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1939835	NM_002085.5(GPX4):c.85-429C>T	GPX4, LOC130062887 (S8F)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1347118	NM_002085.5(GPX4):c.85-427C>T	GPX4, LOC130062887 (P9S)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1470379	NM_002085.5(GPX4):c.85-426C>T	GPX4, LOC130062887 (P9L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1658628	NM_002085.5(GPX4):c.85-425C>T	LOC130062887, GPX4	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1897086	NM_002085.5(GPX4):c.85-420G>A	GPX4, LOC130062887 (R11H)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1523088	NM_002085.5(GPX4):c.85-408G>C	GPX4, LOC130062887 (R15P)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2193296	NM_002085.5(GPX4):c.85-403C>T	GPX4, LOC130062887 (Q17*)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 2049132	NM_002085.5(GPX4):c.85-401G>T	GPX4, LOC130062887 (Q17H)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2891326	NM_002085.5(GPX4):c.85-350G>A	GPX4	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2056682	NM_002085.5(GPX4):c.85-346dup	GPX4 (R36fs)	Duplication (frameshift variant +1 more)	not provided	GPathogenic
Select item 3102109	NM_002085.5(GPX4):c.85-342G>C	GPX4 (R37P)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2959737	NM_002085.5(GPX4):c.85-341C>A	GPX4	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1958723	NM_002085.5(GPX4):c.85-333C>A	GPX4 (A40E)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2072413	NM_002085.5(GPX4):c.85-324G>A	GPX4 (R43Q)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1028980	NM_002085.5(GPX4):c.85-321G>A	GPX4 (R44Q)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2962307	NM_002085.5(GPX4):c.85-314G>A	GPX4	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1225880	NM_002085.5(GPX4):c.85-311C>T	GPX4	Single nucleotide variant (intron variant +1 more)	not provided	GBenign
Select item 1482360	NM_002085.5(GPX4):c.85-307C>T	GPX4 (P49S)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2302746	NM_002085.5(GPX4):c.85-294G>T	GPX4 (R53L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 717573	NM_002085.5(GPX4):c.85-284C>G	GPX4 (I56M)	Single nucleotide variant (intron variant +1 more)	not provided	GBenign
Select item 2217520	NM_002085.5(GPX4):c.85-282A>G	GPX4 (H57R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 745961	NM_002085.5(GPX4):c.85-281C>G	GPX4 (H57Q)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2395385	NM_002085.5(GPX4):c.85-280G>C	GPX4 (E58Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 730424	NM_002085.5(GPX4):c.85-260C>T	GPX4	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1895663	NM_002085.5(GPX4):c.85-258C>T	GPX4 (P65L)	Single nucleotide variant (intron variant +1 more)	not provided	GUncertain significance
Select item 2168389	NM_002085.5(GPX4):c.85-250G>C	GPX4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1674106	NM_002085.5(GPX4):c.85-14C>T	GPX4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1536870	NM_002085.5(GPX4):c.85-9G>C	GPX4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2963233	NM_002085.5(GPX4):c.85-4G>A	GPX4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2705523	NM_002085.5(GPX4):c.85-1G>A	GPX4	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 2134752	NM_002085.5(GPX4):c.93C>G (p.Ser31=)	GPX4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1970460	NM_002085.5(GPX4):c.94C>T (p.Arg32Trp)	GPX4 (R5W +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2383682	NM_002085.5(GPX4):c.106C>T (p.Arg36Cys)	GPX4 (R73C +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2251198	NM_002085.5(GPX4):c.116G>A (p.Arg39His)	GPX4 (R12H +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1941233	NM_002085.5(GPX4):c.125A>G (p.His42Arg)	GPX4 (H79R +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1661361	NM_002085.5(GPX4):c.135C>T (p.Ser45=)	GPX4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1421686	NM_002085.5(GPX4):c.151G>A (p.Gly51Arg)	GPX4 (G88R +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 808416	NM_002085.5(GPX4):c.153_160del (p.Gly51_His52insTer)	GPX4	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 1350093	NM_002085.5(GPX4):c.157A>G (p.Met53Val)	GPX4 (M26V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1501500	NM_002085.5(GPX4):c.167T>C (p.Leu56Pro)	GPX4 (L29P +2 more)	Single nucleotide variant (missense variant)	GPX4-related disorder +1 more	GUncertain significance
Select item 1644237	NM_002085.5(GPX4):c.179+8C>T	GPX4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1461224	NM_002085.5(GPX4):c.179+15G>A	GPX4	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1237937	NM_002085.5(GPX4):c.179+31T>C	GPX4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3006965	NM_002085.5(GPX4):c.180-18C>T	GPX4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2973833	NM_002085.5(GPX4):c.180-7C>T	GPX4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1345750	NM_002085.5(GPX4):c.180-5C>G	GPX4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1404555	NM_002085.5(GPX4):c.180-3C>A	GPX4	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1361096	NM_002085.5(GPX4):c.181G>A (p.Gly61Ser)	GPX4 (G61S +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2900800	NM_002085.5(GPX4):c.198C>T (p.Val66=)	GPX4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2524155	NM_002085.5(GPX4):c.199A>C (p.Thr67Pro)	GPX4 (T67P +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1444732	NM_002085.5(GPX4):c.200C>G (p.Thr67Ser)	GPX4 (T104S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 746275	NM_002085.5(GPX4):c.201C>G (p.Thr67=)	GPX4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2895224	NM_002085.5(GPX4):c.228C>T (p.Thr76=)	GPX4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2026627	NM_002085.5(GPX4):c.249C>T (p.Leu83=)	GPX4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1408080	NM_002085.5(GPX4):c.250G>A (p.Val84Ile)	GPX4 (V57I +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1469463	NM_002085.5(GPX4):c.253G>C (p.Asp85His)	GPX4 (D122H +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1540443	NM_002085.5(GPX4):c.264C>T (p.Ala88=)	GPX4	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 140617	NM_002085.5(GPX4):c.270C>A (p.Tyr90Ter)	GPX4 (Y127* +2 more)	Single nucleotide variant (nonsense)	Spondylometaphyseal dysplasia, Sedaghatian type	GPathogenic
Select item 1418302	NM_002085.5(GPX4):c.287G>A (p.Arg96Gln)	GPX4 (R69Q +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1427390	NM_002085.5(GPX4):c.302C>G (p.Pro101Arg)	GPX4 (P101R +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2478683	NM_002085.5(GPX4):c.307A>G (p.Asn103Asp)	GPX4 (N103D +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2185638	NM_002085.5(GPX4):c.324+5G>A	GPX4	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1908891	NM_002085.5(GPX4):c.324+11G>C	GPX4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1600902	NM_002085.5(GPX4):c.324+12C>A	GPX4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2874151	NM_002085.5(GPX4):c.324+15C>A	GPX4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1631573	NM_002085.5(GPX4):c.324+15C>T	GPX4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1613560	NM_002085.5(GPX4):c.324+22dup	GPX4	Duplication (intron variant)	not provided	GBenign
Select item 2975028	NM_002085.5(GPX4):c.325-14C>T	GPX4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1594514	NM_002085.5(GPX4):c.325-10G>A	GPX4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2717358	NM_002085.5(GPX4):c.325-5C>T	GPX4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1644191	NM_002085.5(GPX4):c.333G>A (p.Gly111=)	GPX4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign

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