Related gene-specific medical variations for Gene (Select 59336) - ClinVar

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Items: 81

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3060623	NC_000006.12:g.99598936A>C	PRDM13	Single nucleotide variant	PRDM13-related disorder	GLikely benign
Select item 2993096	NM_021620.4(PRDM13):c.957G>A (p.Lys319=)	LOC129996881, PRDM13	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2973986	NM_021620.4(PRDM13):c.1886C>G (p.Pro629Arg)	LOC129996882, PRDM13 (P629R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2898920	NM_021620.4(PRDM13):c.1917T>A (p.Leu639=)	LOC129996882, PRDM13	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2881917	NM_021620.4(PRDM13):c.981C>G (p.Gly327=)	LOC129996881, PRDM13	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2865035	NM_021620.4(PRDM13):c.1072G>A (p.Ala358Thr)	LOC129996881, PRDM13 (A358T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2817112	NM_021620.4(PRDM13):c.1098C>A (p.Cys366Ter)	LOC129996881, PRDM13 (C366*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2813771	NM_021620.4(PRDM13):c.1885C>A (p.Pro629Thr)	LOC129996882, PRDM13 (P629T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2810963	NM_021620.4(PRDM13):c.1056CCA[3] (p.His357_Ala358insHis)	LOC129996881, PRDM13	Microsatellite (inframe_insertion)	not provided	GUncertain significance
Select item 2786462	NM_021620.4(PRDM13):c.956A>C (p.Lys319Thr)	LOC129996881, PRDM13 (K319T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2781287	NM_021620.4(PRDM13):c.982A>T (p.Arg328Trp)	LOC129996881, PRDM13 (R328W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2779889	NM_021620.4(PRDM13):c.1121_1122insACC (p.Pro378_Gly379insPro)	LOC129996881, PRDM13	Insertion (inframe_insertion)	not provided	GUncertain significance
Select item 2705432	NM_021620.4(PRDM13):c.1000C>T (p.Arg334Trp)	LOC129996881, PRDM13 (R334W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2334866	NM_021620.4(PRDM13):c.1105G>T (p.Ala369Ser)	PRDM13, LOC129996881 (A369S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2257869	NM_021620.4(PRDM13):c.967G>A (p.Gly323Ser)	LOC129996881, PRDM13 (G323S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2183756	NM_021620.4(PRDM13):c.974C>T (p.Ala325Val)	LOC129996881, PRDM13 (A325V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2167487	NM_021620.4(PRDM13):c.1119G>A (p.Pro373=)	LOC129996881, PRDM13	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2081040	NM_021620.4(PRDM13):c.1012C>A (p.Arg338Ser)	LOC129996881, PRDM13 (R338S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2078019	NM_021620.4(PRDM13):c.1124C>T (p.Pro375Leu)	LOC129996881, PRDM13 (P375L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2055585	NM_021620.4(PRDM13):c.1116GCC[3] (p.Pro376_Pro378del)	LOC129996881, PRDM13	Microsatellite (inframe_deletion)	not provided	GUncertain significance
Select item 2045842	NM_021620.4(PRDM13):c.1072_1083dup (p.His361_His362insAlaHisHisHis)	LOC129996881, PRDM13	Duplication (inframe_insertion)	not provided	GUncertain significance
Select item 2037342	NM_021620.4(PRDM13):c.1068_1088del (p.His357_His363del)	LOC129996881, PRDM13	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 2018693	NM_021620.4(PRDM13):c.1026G>C (p.Gly342=)	LOC129996881, PRDM13	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1995279	NM_021620.4(PRDM13):c.1061A>G (p.His354Arg)	LOC129996881, PRDM13 (H354R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1994314	NM_021620.4(PRDM13):c.1070_1090del (p.His357_His363del)	LOC129996881, PRDM13	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 1956581	NM_021620.4(PRDM13):c.1072_1083del (p.Ala358_His361del)	LOC129996881, PRDM13	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 1933908	NM_021620.4(PRDM13):c.1044_1052dup (p.Gly351_His352insGlyAlaGly)	LOC129996881, PRDM13	Duplication (inframe_insertion)	not provided	GUncertain significance
Select item 1908808	NM_021620.4(PRDM13):c.1077CCA[5] (p.His363_Pro364insHis)	LOC129996881, PRDM13	Microsatellite (inframe_insertion)	not provided	GUncertain significance
Select item 1654245	NM_021620.4(PRDM13):c.1167C>T (p.Phe389=)	LOC129996881, PRDM13	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1638949	NM_021620.4(PRDM13):c.1014C>G (p.Arg338=)	LOC129996881, PRDM13	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1579266	NM_021620.4(PRDM13):c.1905C>T (p.Cys635=)	LOC129996882, PRDM13	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1576372	NM_021620.4(PRDM13):c.1017C>G (p.Pro339=)	LOC129996881, PRDM13	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1564001	NM_021620.4(PRDM13):c.966C>T (p.Ala322=)	LOC129996881, PRDM13	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1559213	NM_021620.4(PRDM13):c.996G>A (p.Gly332=)	PRDM13, LOC129996881	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1537834	NM_021620.4(PRDM13):c.1138C>T (p.Leu380=)	LOC129996881, PRDM13	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1524798	NM_021620.4(PRDM13):c.1053TCACCACCA[1] (p.His355_His357del)	PRDM13, LOC129996881	Microsatellite (inframe_deletion)	not provided	GUncertain significance
Select item 1512373	NM_021620.4(PRDM13):c.1012C>G (p.Arg338Gly)	LOC129996881, PRDM13 (R338G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1498919	NM_021620.4(PRDM13):c.1163G>A (p.Gly388Asp)	LOC129996881, PRDM13 (G388D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1479252	NM_021620.4(PRDM13):c.991G>A (p.Gly331Ser)	LOC129996881, PRDM13 (G331S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1478767	NM_021620.4(PRDM13):c.1108G>A (p.Gly370Arg)	LOC129996881, PRDM13 (G370R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1448197	NM_021620.4(PRDM13):c.1064_1090del (p.His355_His363del)	LOC129996881, PRDM13	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 1446828	NM_021620.4(PRDM13):c.964G>A (p.Ala322Thr)	LOC129996881, PRDM13 (A322T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1426384	NM_021620.4(PRDM13):c.1017C>A (p.Pro339=)	LOC129996881, PRDM13	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1402217	NM_021620.4(PRDM13):c.1116GCC[5] (p.Pro378del)	LOC129996881, PRDM13 (P378del)	Microsatellite (inframe_deletion)	not provided	GUncertain significance
Select item 1384131	NM_021620.4(PRDM13):c.1029G>C (p.Glu343Asp)	LOC129996881, PRDM13 (E343D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1378657	NM_021620.4(PRDM13):c.1025G>T (p.Gly342Val)	LOC129996881, PRDM13 (G342V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1371226	NM_021620.4(PRDM13):c.979G>A (p.Gly327Ser)	PRDM13, LOC129996881 (G327S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1364270	NM_021620.4(PRDM13):c.992G>A (p.Gly331Asp)	PRDM13, LOC129996881 (G331D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1346758	NM_021620.4(PRDM13):c.1135G>A (p.Gly379Ser)	LOC129996881, PRDM13 (G379S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1170211	NM_021620.4(PRDM13):c.994G>A (p.Gly332Arg)	LOC129996881, PRDM13 (G332R)	Single nucleotide variant (missense variant)	not provided	GBenign/Likely benign
Select item 1167894	NM_021620.4(PRDM13):c.1116GCC[4] (p.Pro377_Pro378del)	LOC129996881, PRDM13	Microsatellite (inframe_deletion)	not provided	GBenign
Select item 1165053	NM_021620.4(PRDM13):c.1116GCC[7] (p.Pro378dup)	LOC129996881, PRDM13	Microsatellite (inframe_insertion)	not provided	GBenign
Select item 1157345	NM_021620.4(PRDM13):c.1124_1125insACC (p.Pro378dup)	LOC129996881, PRDM13	Insertion (inframe_insertion)	not provided	GLikely benign
Select item 1148324	NM_021620.4(PRDM13):c.1153G>A (p.Ala385Thr)	LOC129996881, PRDM13 (A385T)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1142965	NM_021620.4(PRDM13):c.1105G>A (p.Ala369Thr)	LOC129996881, PRDM13 (A369T)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1138559	NM_021620.4(PRDM13):c.1133_1134insACC (p.Pro378dup)	LOC129996881, PRDM13	Insertion (inframe_insertion)	not provided	GLikely benign
Select item 1118054	NM_021620.4(PRDM13):c.1074G>T (p.Ala358=)	LOC129996881, PRDM13	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1103241	NM_021620.4(PRDM13):c.1155C>T (p.Ala385=)	LOC129996881, PRDM13	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1091407	NM_021620.4(PRDM13):c.972C>G (p.Leu324=)	LOC129996881, PRDM13	Single nucleotide variant (synonymous variant)	PRDM13-related disorder +1 more	GLikely benign
Select item 1080251	NM_021620.4(PRDM13):c.1104C>T (p.Leu368=)	LOC129996881, PRDM13	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1059144	NM_021620.4(PRDM13):c.1105G>C (p.Ala369Pro)	LOC129996881, PRDM13 (A369P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1053220	NM_021620.4(PRDM13):c.1045G>A (p.Gly349Ser)	LOC129996881, PRDM13 (G349S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1040367	NM_021620.4(PRDM13):c.1116GCC[10] (p.Pro375_Pro378dup)	LOC129996881, PRDM13	Microsatellite (inframe_insertion)	not provided	GUncertain significance
Select item 1037548	NM_021620.4(PRDM13):c.1159C>T (p.Arg387Cys)	LOC129996881, PRDM13 (R387C)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1022794	NM_021620.4(PRDM13):c.1136G>A (p.Gly379Asp)	LOC129996881, PRDM13 (G379D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1005136	NM_021620.4(PRDM13):c.1147T>C (p.Ser383Pro)	LOC129996881, PRDM13 (S383P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 971437	NM_021620.4(PRDM13):c.1027G>A (p.Glu343Lys)	PRDM13, LOC129996881 (E343K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 966801	NM_021620.4(PRDM13):c.1116GCC[8] (p.Pro377_Pro378dup)	LOC129996881, PRDM13	Microsatellite (inframe_insertion)	not provided	GUncertain significance
Select item 954745	NM_021620.4(PRDM13):c.1909A>G (p.Lys637Glu)	LOC129996882, PRDM13 (K637E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 935301	NM_021620.4(PRDM13):c.1077CCA[6] (p.His362_His363dup)	LOC129996881, PRDM13	Microsatellite (inframe_insertion)	not provided	GUncertain significance
Select item 867056	NM_021620.4(PRDM13):c.1099C>G (p.Leu367Val)	LOC129996881, PRDM13 (L367V)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 866342	NM_021620.4(PRDM13):c.761A>C (p.Gln254Pro)	PRDM13 (Q254P)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 853775	NM_021620.4(PRDM13):c.1151G>C (p.Gly384Ala)	LOC129996881, PRDM13 (G384A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 853056	NM_021620.4(PRDM13):c.1116GCC[9] (p.Pro376_Pro378dup)	LOC129996881, PRDM13	Microsatellite (inframe_insertion)	not provided	GUncertain significance
Select item 852905	NM_021620.4(PRDM13):c.1133_1134insGCCGCT (p.Pro378_Gly379insProLeu)	LOC129996881, PRDM13	Insertion (inframe_insertion)	not provided	GUncertain significance
Select item 844015	NM_021620.4(PRDM13):c.1024G>T (p.Gly342Trp)	LOC129996881, PRDM13 (G342W)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 812377	NC_000006.12:g.99593098A>C	LOC111365204, PRDM13	Single nucleotide variant	North Carolina macular dystrophy +1 more	GPathogenic/Likely pathogenic
Select item 778246	NM_021620.4(PRDM13):c.1087C>A (p.His363Asn)	LOC129996881, PRDM13 (H363N)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 446241	NC_000006.12:g.99593164C>T	LOC111365204, PRDM13	Single nucleotide variant	not provided	GUncertain significance
Select item 446240	NC_000006.12:g.99593111G>C	LOC111365204, PRDM13	Single nucleotide variant	not provided	GPathogenic
Select item 446239	NC_000006.12:g.99593030G>T	LOC111365204, PRDM13	Single nucleotide variant	not provided	GPathogenic

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Links from Gene

Items: 81