2067[geneid] - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 1473831.	GRCh38/hg38 19q13.32-13.33(chr19:44971420-48257402)x3 GRCh37: Chr19:45474677-48760659 GRCh38: Chr19:44971420-48257402	AP2S1, ARHGAP35, BBC3, BICRA, BICRA-AS2, BLOC1S3, BSPH1, C5AR1, C5AR2, CABP5, CALM3, CARD8, CARD8-AS1, CCDC61, CCDC8, CCDC9, CKM, CLASRP, CLPTM1, CRX, DACT3, DACT3-AS1, DHX34, DM1-AS, DMPK, DMWD, EHD2, ELSPBP1, EML2, EML2-AS1, ERCC1, ERCC2, EXOC3L2, FBXO46, FKRP, FOSB, FOXA3, GEMIN7, GEMIN7-AS1, GIPR, GNG8, GPR4, HIF3A, IGFL1, IGFL2, IGFL2-AS1, IGFL3, IGFL4, INAFM1, IRF2BP1, KLC3, KPTN, LIG1, LINC01595, LOC105372421, LOC105372424, LOC107075317, LOC108004523, LOC109461477, LOC111365212, LOC111413034, LOC112552159, LOC112552160, LOC112552161, LOC112552162, LOC112552164, LOC112552165, LOC112552166, LOC112552167, LOC116286190, LOC116286191, LOC121627879, LOC121627880, LOC121627881, LOC121627882, LOC121627883, LOC121852989, LOC121852990, LOC125371527, LOC125371528, LOC125371529, LOC125371530, LOC125371531, LOC125371532, LOC125371533, LOC125371534, LOC125371535, LOC125371536, LOC125371537, LOC125371538, LOC125371539, LOC125371540, LOC126862913, LOC126862914, LOC126862915, LOC126862916, LOC126862917, LOC126862918, LOC126862919, LOC126862920, LOC129391124, LOC129391125, LOC129391126, LOC129391127, LOC129391128, LOC129391129, LOC129391130, LOC129456125, LOC129664478, LOC129929037, LOC129929038, LOC129929039, LOC129929040, LOC129929041, LOC129929042, LOC130064659, LOC130064660, LOC130064661, LOC130064662, LOC130064663, LOC130064664, LOC130064665, LOC130064666, LOC130064667, LOC130064668, LOC130064669, LOC130064670, LOC130064671, LOC130064672, LOC130064673, LOC130064674, LOC130064675, LOC130064676, LOC130064677, LOC130064678, LOC130064679, LOC130064680, LOC130064681, LOC130064682, LOC130064683, LOC130064684, LOC130064685, LOC130064686, LOC130064687, LOC130064688, LOC130064689, LOC130064690, LOC130064691, LOC130064692, LOC130064693, LOC130064694, LOC130064695, LOC130064696, LOC130064697, LOC130064698, LOC130064699, LOC130064700, LOC130064701, LOC130064702, LOC130064703, LOC130064704, LOC130064705, LOC130064706, LOC130064707, LOC130064708, LOC130064709, LOC130064710, LOC130064711, LOC130064712, LOC130064713, LOC130064714, LOC130064715, LOC130064716, LOC130064717, LOC130064718, LOC130064719, LOC130064720, LOC130064721, LOC130064722, LOC130064723, LOC130064724, LOC130064725, LOC130064726, LOC130064727, LOC130064728, LOC130064729, LOC130064730, LOC130064731, LOC130064732, LOC130064733, LOC130064734, LOC130064735, LOC130064736, LOC130064737, LOC130064738, LOC130064739, LOC130064740, LOC130064741, LOC130064742, LOC130064743, LOC130064744, LOC130064745, LOC130064746, LOC130064747, LOC130064748, LOC130064749, LOC130064750, LOC130064751, LOC130064752, LOC130064753, LOC130064754, LOC130064755, LOC130064756, LOC130064757, LOC130064758, LOC130064759, LOC130064760, LOC130064761, LOC130064762, LOC130064763, LOC130064764, LOC130064765, LOC130064766, LOC130064767, LOC130064768, LOC130064769, LOC130064770, LOC130064771, LOC130064772, LOC130064773, LOC130064774, LOC130064775, LOC130064776, LOC130064777, LOC130064778, LOC130064779, LOC130064780, LOC130064781, LOC130064782, LOC130064783, LOC130064784, LOC130064785, LOC130064786, LOC130064787, LOC130064788, LOC130064789, LOC130064790, LOC130064791, LOC130064792, LOC130064793, LOC130064794, LOC130064795, LOC130064796, LOC130064797, LOC130064798, LOC130064799, LOC130064800, LOC130064801, LOC130064802, LOC130064803, LOC130064804, LOC130064805, LOC130064806, LOC130064807, LOC130064808, LOC130064809, LOC130064810, LOC130064811, LOC130064812, LOC130064813, LOC130064814, LOC130064815, LOC130064816, LOC130064817, LOC130064818, LOC130064819, LOC130064820, LOC130064821, LOC130064822, LOC130064823, LOC130064824, LOC130064825, LOC130064826, LOC130064827, LOC130064828, LOC130064829, LOC130064830, LOC130064831, LOC130064832, LOC130064833, LOC130064834, LOC130064835, LOC130064836, LOC130064837, LOC93429, MARK4, MEIOSIN, MEIS3, MIR3190, MIR3191, MIR320E, MIR330, MIR6088, MIR642A, MIR642B, MIR769, MYPOP, NANOS2, NAPA, NAPA-AS1, NKPD1, NOP53, NOP53-AS1, NOVA2, NPAS1, OPA3, PGLYRP1, PLA2G4C, PLA2G4C-AS1, PNMA8A, PNMA8B, PNMA8C, POLR1G, PPM1N, PPP1R13L, PPP1R37, PPP5C, PPP5D1, PRKD2, PTGIR, QPCTL, RELB, RSPH6A, RTN2, SAE1, SELENOW, SIX5, SLC1A5, SLC8A2, SNAR-A1, SNAR-A12, SNAR-A13, SNAR-A2, SNAR-A3, SNAR-C1, SNAR-C2, SNAR-C3, SNAR-C4, SNAR-C5, SNAR-E, SNORD23, SNRPD2, STRN4, SULT2A1, SYMPK, TMEM160, TPRX1, TPRX2, TRAPPC6A, TRU-TCA1-1, VASP, ZC3H4, ZNF296, ZNF541, ZSWIM9		See cases	Pathogenic (Dec 22, 2010)	no assertion criteria provided
Select item 602782.	GRCh38/hg38 19q13.32(chr19:45287256-45734078)x3 GRCh37: Chr19:45790514-46237336 GRCh38: Chr19:45287256-45734078	CKM, EML2, EML2-AS1, ERCC1, ERCC2, FBXO46, FOSB, GIPR, GPR4, KLC3, LOC108004523, LOC112552159, LOC121627880, LOC125371530, LOC125371531, LOC125371532, LOC130064685, LOC130064686, LOC130064687, LOC130064688, LOC130064689, LOC130064690, LOC130064691, LOC130064692, LOC130064693, LOC130064694, LOC130064695, LOC130064696, LOC130064697, LOC130064698, LOC130064699, LOC130064700, LOC130064701, LOC130064702, LOC130064703, LOC130064704, LOC130064705, LOC130064706, LOC130064707, LOC130064708, LOC130064709, LOC130064710, LOC130064711, LOC130064712, LOC130064713, LOC130064714, LOC130064715, LOC130064716, LOC130064717, LOC130064718, LOC130064719, LOC130064720, LOC130064721, LOC130064722, LOC130064723, LOC130064724, MARK4, MEIOSIN, MIR330, MIR6088, MIR642A, MIR642B, OPA3, POLR1G, PPM1N, PPP1R13L, QPCTL, RTN2, SNRPD2, TRU-TCA1-1, VASP		See cases	Uncertain significance (Aug 12, 2011)	criteria provided, single submitter
Select item 1487663.	GRCh38/hg38 19q13.32(chr19:45387389-46831000)x1 GRCh37: Chr19:45890647-47334257 GRCh38: Chr19:45387389-46831000	CALM3, CCDC61, CCDC8, DACT3, DACT3-AS1, DM1-AS, DMPK, DMWD, EML2, EML2-AS1, ERCC1, FBXO46, FKRP, FOSB, FOXA3, GIPR, GNG8, GPR4, HIF3A, IGFL1, IGFL2, IGFL2-AS1, IGFL3, IGFL4, IRF2BP1, LOC105372421, LOC105372424, LOC107075317, LOC109461477, LOC111365212, LOC111413034, LOC112552159, LOC112552160, LOC112552161, LOC112552162, LOC121627880, LOC121627881, LOC125371531, LOC125371532, LOC125371533, LOC125371534, LOC125371535, LOC125371536, LOC126862913, LOC126862914, LOC126862915, LOC126862916, LOC126862917, LOC126862918, LOC129391125, LOC129391126, LOC129391127, LOC129391128, LOC129456125, LOC129664478, LOC129929037, LOC129929038, LOC129929039, LOC129929040, LOC129929041, LOC129929042, LOC130064687, LOC130064688, LOC130064689, LOC130064690, LOC130064691, LOC130064692, LOC130064693, LOC130064694, LOC130064695, LOC130064696, LOC130064697, LOC130064698, LOC130064699, LOC130064700, LOC130064701, LOC130064702, LOC130064703, LOC130064704, LOC130064705, LOC130064706, LOC130064707, LOC130064708, LOC130064709, LOC130064710, LOC130064711, LOC130064712, LOC130064713, LOC130064714, LOC130064715, LOC130064716, LOC130064717, LOC130064718, LOC130064719, LOC130064720, LOC130064721, LOC130064722, LOC130064723, LOC130064724, LOC130064725, LOC130064726, LOC130064727, LOC130064728, LOC130064729, LOC130064730, LOC130064731, LOC130064732, LOC130064733, LOC130064734, LOC130064735, LOC130064736, LOC130064737, LOC130064738, LOC130064739, LOC130064740, LOC130064741, LOC130064742, LOC130064743, LOC130064744, LOC130064745, LOC130064746, LOC130064747, LOC130064748, LOC130064749, LOC130064750, LOC130064751, LOC130064752, LOC130064753, LOC130064754, LOC130064755, LOC130064756, LOC130064757, LOC130064758, LOC130064759, LOC130064760, LOC130064761, LOC130064762, LOC130064763, LOC130064764, LOC130064765, LOC130064766, LOC130064767, LOC130064768, LOC130064769, LOC130064770, LOC130064771, LOC130064772, LOC130064773, LOC130064774, LOC130064775, LOC130064776, LOC130064777, LOC130064778, LOC130064779, LOC130064780, LOC130064781, LOC130064782, LOC130064783, LOC93429, MEIOSIN, MIR320E, MIR330, MIR6088, MIR642A, MIR642B, MIR769, MYPOP, NANOS2, NOVA2, OPA3, PGLYRP1, PNMA8A, PNMA8B, PNMA8C, POLR1G, PPM1N, PPP1R13L, PPP5C, PPP5D1, PRKD2, PTGIR, QPCTL, RSPH6A, RTN2, SIX5, SLC1A5, SNAR-E, SNRPD2, STRN4, SYMPK, TRU-TCA1-1, VASP		See cases	Likely pathogenic (Jan 13, 2012)	no assertion criteria provided
Select item 24669894.	NM_012099.3(POLR1G):c.230G>A (p.Arg77Gln) GRCh37: Chr19:45911456 GRCh38: Chr19:45408198	ERCC1, POLR1G	R77Q, R79Q	Inborn genetic diseases	Uncertain significance (Jan 26, 2023)	criteria provided, single submitter
Select item 25701475.	NM_012099.3(POLR1G):c.275C>T (p.Ala92Val) GRCh37: Chr19:45911501 GRCh38: Chr19:45408243	ERCC1, POLR1G	A94V, A92V	Inborn genetic diseases	Uncertain significance (Apr 7, 2023)	criteria provided, single submitter
Select item 25144606.	NM_012099.3(POLR1G):c.287C>T (p.Ala96Val) GRCh37: Chr19:45911513 GRCh38: Chr19:45408255	ERCC1, POLR1G	A96V, A98V	Inborn genetic diseases	Uncertain significance (Mar 28, 2023)	criteria provided, single submitter
Select item 25180317.	NM_012099.3(POLR1G):c.409C>T (p.Pro137Ser) GRCh37: Chr19:45911635 GRCh38: Chr19:45408377	ERCC1, POLR1G	P137S, P139S	Inborn genetic diseases	Uncertain significance (May 23, 2023)	criteria provided, single submitter
Select item 24631118.	NM_012099.3(POLR1G):c.476C>T (p.Thr159Ile) GRCh37: Chr19:45911702 GRCh38: Chr19:45408444	ERCC1, POLR1G	T159I, T161I	Inborn genetic diseases	Uncertain significance (Mar 2, 2023)	criteria provided, single submitter
Select item 12482629.	NM_001983.4(ERCC1):c.*931T>G GRCh37: Chr19:45912002 GRCh38: Chr19:45408744	ERCC1, POLR1G	K259T, K261T	not provided	Benign (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 23548010.	NM_012099.3(POLR1G):c.844A>G (p.Thr282Ala) GRCh37: Chr19:45912070 GRCh38: Chr19:45408812	ERCC1, POLR1G	T282A, T284A	not provided, not specified	Conflicting interpretations of pathogenicity (Oct 28, 2020)	criteria provided, conflicting interpretations
Select item 256885911.	NM_012099.3(POLR1G):c.883G>C (p.Gly295Arg) GRCh37: Chr19:45912109 GRCh38: Chr19:45408851	ERCC1, POLR1G	G295R, G297R	Inborn genetic diseases	Uncertain significance (Apr 4, 2023)	criteria provided, single submitter
Select item 246598312.	NM_012099.3(POLR1G):c.992A>G (p.Lys331Arg) GRCh37: Chr19:45912218 GRCh38: Chr19:45408960	POLR1G, ERCC1	K331R, K333R	Inborn genetic diseases	Uncertain significance (Jan 31, 2023)	criteria provided, single submitter
Select item 127797413.	NM_012099.3(POLR1G):c.1117A>G (p.Lys373Glu) GRCh37: Chr19:45912343 GRCh38: Chr19:45409085	ERCC1, POLR1G	K373E, K375E	not provided	Benign (Jun 14, 2019)	criteria provided, single submitter
Select item 261085414.	NM_012099.3(POLR1G):c.1497C>G (p.Asp499Glu) GRCh37: Chr19:45912723 GRCh38: Chr19:45409465	ERCC1, POLR1G	D499E, D501E	Inborn genetic diseases	Likely benign (Jul 12, 2023)	criteria provided, single submitter
Select item 22598715.	NM_012099.3(POLR1G):c.1510C>A (p.Gln504Lys) GRCh37: Chr19:45912736 GRCh38: Chr19:45409478	ERCC1, POLR1G	Q504K, Q506K	not provided	Benign (Oct 22, 2022)	criteria provided, multiple submitters, no conflicts
Select item 120363916.	NM_012099.3(POLR1G):c.1524G>A (p.Gln508=) GRCh37: Chr19:45912750 GRCh38: Chr19:45409492	ERCC1, POLR1G		not provided	Likely benign (Mar 10, 2019)	criteria provided, single submitter
Select item 117872117.	NM_012099.3(POLR1G):c.*90del GRCh37: Chr19:45912849 GRCh38: Chr19:45409591	ERCC1, POLR1G		not provided	Likely benign (Jun 10, 2019)	criteria provided, single submitter
Select item 265011018.	NM_001983.4(ERCC1):c.870C>T (p.His290=) GRCh37: Chr19:45912957 GRCh38: Chr19:45409699	ERCC1, POLR1G		not provided	Likely benign (Aug 1, 2023)	criteria provided, single submitter
Select item 123668019.	NM_012099.3(POLR1G):c.*327C>G GRCh37: Chr19:45913086 GRCh38: Chr19:45409828	ERCC1, POLR1G		not provided	Benign (Nov 11, 2018)	criteria provided, single submitter
Select item 127555520.	NM_012099.3(POLR1G):c.*334T>C GRCh37: Chr19:45913093 GRCh38: Chr19:45409835	ERCC1, POLR1G		not provided	Benign (Nov 11, 2018)	criteria provided, single submitter
Select item 134302221.	NM_012099.3(POLR1G):c.*379ATT[5] GRCh37: Chr19:45913136-45913138 GRCh38: Chr19:45409878-45409880	ERCC1, POLR1G		not provided	Likely benign (Sep 7, 2021)	criteria provided, single submitter
Select item 129444322.	NM_012099.3(POLR1G):c.*379ATT[4] GRCh37: Chr19:45913136-45913141 GRCh38: Chr19:45409878-45409883	ERCC1, POLR1G		not provided	Benign (Nov 14, 2019)	criteria provided, single submitter
Select item 129171423.	NM_012099.3(POLR1G):c.393_394insTTTTTTTT GRCh37: Chr19:45913150-45913151 GRCh38: Chr19:45409892-45409893	ERCC1, POLR1G		not provided	Benign (Aug 7, 2019)	criteria provided, single submitter
Select item 129445224.	NM_012099.3(POLR1G):c.396_397insATTAT GRCh37: Chr19:45913154-45913155 GRCh38: Chr19:45409896-45409897	POLR1G, ERCC1		not provided	Benign (Sep 6, 2019)	criteria provided, single submitter
Select item 126023125.	NM_012099.3(POLR1G):c.396_397insATTA GRCh37: Chr19:45913155-45913156 GRCh38: Chr19:45409897-45409898	ERCC1, POLR1G		not provided	Benign (Aug 15, 2019)	criteria provided, single submitter
Select item 124265226.	NM_012099.3(POLR1G):c.396_397insA GRCh37: Chr19:45913155-45913156 GRCh38: Chr19:45409897-45409898	ERCC1, POLR1G		not provided	Benign (Aug 19, 2019)	criteria provided, single submitter
Select item 118238927.	NM_012099.3(POLR1G):c.396_397insATTATTA GRCh37: Chr19:45913155-45913156 GRCh38: Chr19:45409897-45409898	ERCC1, POLR1G		not provided	Likely benign (Aug 15, 2019)	criteria provided, single submitter
Select item 126826828.	NM_012099.3(POLR1G):c.*397T>A GRCh37: Chr19:45913156 GRCh38: Chr19:45409898	ERCC1, POLR1G		not provided	Benign (Aug 15, 2019)	criteria provided, single submitter
Select item 125412429.	NM_012099.3(POLR1G):c.397_398insA GRCh37: Chr19:45913156-45913157 GRCh38: Chr19:45409898-45409899	ERCC1, POLR1G		not provided	Benign (Sep 6, 2021)	criteria provided, single submitter
Select item 127461330.	NM_012099.3(POLR1G):c.399_400insATTA GRCh37: Chr19:45913158-45913159 GRCh38: Chr19:45409900-45409901	ERCC1, POLR1G		not provided	Benign (Jun 17, 2021)	criteria provided, single submitter
Select item 120347031.	NM_012099.3(POLR1G):c.*400T>A GRCh37: Chr19:45913159 GRCh38: Chr19:45409901	ERCC1, POLR1G		not provided	Likely benign (Aug 15, 2019)	criteria provided, single submitter
Select item 134206632.	NM_012099.3(POLR1G):c.*403T>A GRCh37: Chr19:45913162 GRCh38: Chr19:45409904	ERCC1, POLR1G		not provided	Likely benign (Aug 16, 2019)	criteria provided, single submitter
Select item 120052133.	NM_012099.3(POLR1G):c.*491C>T GRCh37: Chr19:45913250 GRCh38: Chr19:45409992	ERCC1, POLR1G		not provided	Likely benign (Apr 16, 2019)	criteria provided, single submitter
Select item 12706034.	NM_001983.4(ERCC1):c.843+357C>T GRCh37: Chr19:45916578 GRCh38: Chr19:45413320	ERCC1		not provided	not provided	no assertion provided
Select item 127678435.	NM_001983.4(ERCC1):c.843+348A>G GRCh37: Chr19:45916587 GRCh38: Chr19:45413329	ERCC1		not provided	Benign (Nov 11, 2018)	criteria provided, single submitter
Select item 206938936.	NM_001983.4(ERCC1):c.843+121C>T GRCh37: Chr19:45916814 GRCh38: Chr19:45413556	ERCC1	R298C, R322C	not provided	Uncertain significance (Apr 29, 2022)	criteria provided, single submitter
Select item 74403837.	NM_001983.4(ERCC1):c.843+117C>T GRCh37: Chr19:45916818 GRCh38: Chr19:45413560	ERCC1		not provided	Likely benign (Mar 1, 2023)	criteria provided, multiple submitters, no conflicts
Select item 265011138.	NM_001983.4(ERCC1):c.843+105C>G GRCh37: Chr19:45916830 GRCh38: Chr19:45413572	ERCC1		not provided	Likely benign (Jun 1, 2023)	criteria provided, single submitter
Select item 131044239.	NM_001983.4(ERCC1):c.843+52A>G GRCh37: Chr19:45916883 GRCh38: Chr19:45413625	ERCC1	N275D, N299D	not provided	Uncertain significance (Aug 23, 2022)	criteria provided, multiple submitters, no conflicts
Select item 72547240.	NM_001983.4(ERCC1):c.843+48C>A GRCh37: Chr19:45916887 GRCh38: Chr19:45413629	ERCC1		not provided	Likely benign (Nov 14, 2017)	criteria provided, single submitter
Select item 32953441.	NM_001983.4(ERCC1):c.843+32G>A GRCh37: Chr19:45916903 GRCh38: Chr19:45413645	ERCC1	W292, W268	not provided, Cerebrooculofacioskeletal syndrome 4	Benign (Aug 1, 2023)	criteria provided, multiple submitters, no conflicts
Select item 71624242.	NM_001983.4(ERCC1):c.843+6A>G GRCh37: Chr19:45916929 GRCh38: Chr19:45413671	ERCC1		not provided	Benign (Oct 17, 2022)	criteria provided, single submitter
Select item 63852343.	NM_001983.4(ERCC1):c.799T>C (p.Ser267Pro) GRCh37: Chr19:45916979 GRCh38: Chr19:45413721	ERCC1	S267P, S243P	not provided, Cerebrooculofacioskeletal syndrome 4	Uncertain significance (May 3, 2022)	criteria provided, multiple submitters, no conflicts
Select item 192248344.	NM_001983.4(ERCC1):c.798A>G (p.Ala266=) GRCh37: Chr19:45916980 GRCh38: Chr19:45413722	ERCC1		not provided	Likely benign (Jun 14, 2022)	criteria provided, single submitter
Select item 59214745.	NM_001983.4(ERCC1):c.796G>A (p.Ala266Thr) GRCh37: Chr19:45916982 GRCh38: Chr19:45413724	ERCC1	A266T, A242T	not provided	Conflicting interpretations of pathogenicity (Sep 1, 2022)	criteria provided, conflicting interpretations
Select item 44447446.	NM_001983.4(ERCC1):c.796G>C (p.Ala266Pro) GRCh37: Chr19:45916982 GRCh38: Chr19:45413724	ERCC1	A266P, A242P	not provided	Uncertain significance (Jun 1, 2017)	criteria provided, single submitter
Select item 265011247.	NM_001983.4(ERCC1):c.795C>T (p.Ala265=) GRCh37: Chr19:45916983 GRCh38: Chr19:45413725	ERCC1		not provided	Likely benign (Jul 1, 2022)	criteria provided, single submitter
Select item 131177448.	NM_001983.4(ERCC1):c.793G>A (p.Ala265Thr) GRCh37: Chr19:45916985 GRCh38: Chr19:45413727	ERCC1	A241T, A265T	not provided	Uncertain significance (Jul 3, 2022)	criteria provided, multiple submitters, no conflicts
Select item 71316949.	NM_001983.4(ERCC1):c.792C>T (p.Ile264=) GRCh37: Chr19:45916986 GRCh38: Chr19:45413728	ERCC1		not provided	Benign/Likely benign (Sep 20, 2022)	criteria provided, multiple submitters, no conflicts
Select item 194915850.	NM_001983.4(ERCC1):c.775-14C>T GRCh37: Chr19:45917017 GRCh38: Chr19:45413759	ERCC1		not provided	Likely benign (Jul 11, 2022)	criteria provided, single submitter
Select item 190419051.	NM_001983.4(ERCC1):c.775-15G>A GRCh37: Chr19:45917018 GRCh38: Chr19:45413760	ERCC1		not provided	Likely benign (Aug 28, 2022)	criteria provided, single submitter
Select item 198754352.	NM_001983.4(ERCC1):c.775-16C>T GRCh37: Chr19:45917019 GRCh38: Chr19:45413761	ERCC1		not provided	Likely benign (Oct 25, 2022)	criteria provided, single submitter
Select item 192550953.	NM_001983.4(ERCC1):c.775-20C>T GRCh37: Chr19:45917023 GRCh38: Chr19:45413765	ERCC1		not provided	Likely benign (Aug 19, 2022)	criteria provided, single submitter
Select item 12706154.	NM_001983.4(ERCC1):c.774+64C>T GRCh37: Chr19:45917157 GRCh38: Chr19:45413899	ERCC1		not provided	not provided	no assertion provided
Select item 254730155.	NM_001983.4(ERCC1):c.758T>G (p.Leu253Arg) GRCh37: Chr19:45917237 GRCh38: Chr19:45413979	ERCC1	L253R	Inborn genetic diseases	Uncertain significance (May 17, 2023)	criteria provided, single submitter
Select item 191461656.	NM_001983.4(ERCC1):c.723C>T (p.Thr241=) GRCh37: Chr19:45917272 GRCh38: Chr19:45414014	ERCC1		not provided	Likely benign (Mar 26, 2022)	criteria provided, single submitter
Select item 120824957.	NM_001983.4(ERCC1):c.703-2A>G GRCh37: Chr19:45917294 GRCh38: Chr19:45414036	ERCC1		not provided	Likely pathogenic (Aug 12, 2021)	criteria provided, single submitter
Select item 119406158.	NM_001983.4(ERCC1):c.703-292T>G GRCh37: Chr19:45917584 GRCh38: Chr19:45414326	ERCC1		not provided	Likely benign (Jun 10, 2019)	criteria provided, single submitter
Select item 1677859.	NM_001983.4(ERCC1):c.693C>G (p.Phe231Leu) GRCh37: Chr19:45918128 GRCh38: Chr19:45414870	ERCC1	F231L	Cerebrooculofacioskeletal syndrome 4	Pathogenic (May 2, 2013)	no assertion criteria provided
Select item 26467860.	NM_001983.4(ERCC1):c.676A>T (p.Lys226Ter) GRCh37: Chr19:45918145 GRCh38: Chr19:45414887	ERCC1	K226*	Cockayne syndrome	not provided	no assertion provided
Select item 218011261.	NM_001983.4(ERCC1):c.619C>T (p.Arg207Trp) GRCh37: Chr19:45918202 GRCh38: Chr19:45414944	ERCC1	R207W	not provided	Uncertain significance (Nov 30, 2022)	criteria provided, multiple submitters, no conflicts
Select item 72819662.	NM_001983.4(ERCC1):c.603-6T>C GRCh37: Chr19:45918224 GRCh38: Chr19:45414966	ERCC1		not provided	Likely benign (Mar 13, 2018)	criteria provided, single submitter
Select item 121473363.	NM_001983.4(ERCC1):c.603-27C>T GRCh37: Chr19:45918245 GRCh38: Chr19:45414987	ERCC1		not provided	Likely benign (Mar 10, 2019)	criteria provided, single submitter
Select item 121509564.	NM_001983.4(ERCC1):c.603-170A>G GRCh37: Chr19:45918388 GRCh38: Chr19:45415130	ERCC1		not provided	Likely benign (Mar 16, 2019)	criteria provided, single submitter
Select item 126407065.	NM_001983.4(ERCC1):c.603-318A>C GRCh37: Chr19:45918536 GRCh38: Chr19:45415278	ERCC1		not provided	Benign (Nov 11, 2018)	criteria provided, single submitter
Select item 120312966.	NM_001983.4(ERCC1):c.602+276C>G GRCh37: Chr19:45919803 GRCh38: Chr19:45416545	ERCC1		not provided	Likely benign (Apr 24, 2019)	criteria provided, single submitter
Select item 123855967.	NM_001983.4(ERCC1):c.602+183del GRCh37: Chr19:45919896 GRCh38: Chr19:45416638	ERCC1		not provided	Benign (Aug 19, 2019)	criteria provided, single submitter
Select item 123765168.	NM_001983.4(ERCC1):c.602+182_602+183del GRCh37: Chr19:45919896-45919897 GRCh38: Chr19:45416638-45416639	ERCC1		not provided	Benign (Aug 19, 2019)	criteria provided, single submitter
Select item 124581669.	NM_001983.4(ERCC1):c.602+124C>G GRCh37: Chr19:45919955 GRCh38: Chr19:45416697	ERCC1		not provided	Benign (Nov 11, 2018)	criteria provided, single submitter
Select item 74513870.	NM_001983.4(ERCC1):c.597C>T (p.Ala199=) GRCh37: Chr19:45920084 GRCh38: Chr19:45416826	ERCC1		not provided	Likely benign (Jun 12, 2022)	criteria provided, single submitter
Select item 72620171.	NM_001983.4(ERCC1):c.594C>T (p.Leu198=) GRCh37: Chr19:45920087 GRCh38: Chr19:45416829	ERCC1		not provided	Likely benign (May 1, 2023)	criteria provided, multiple submitters, no conflicts
Select item 199213272.	NM_001983.4(ERCC1):c.577G>A (p.Asp193Asn) GRCh37: Chr19:45920104 GRCh38: Chr19:45416846	ERCC1	D193N	not provided	Uncertain significance (Oct 13, 2022)	criteria provided, single submitter
Select item 218522573.	NM_001983.4(ERCC1):c.576C>T (p.Ala192=) GRCh37: Chr19:45920105 GRCh38: Chr19:45416847	ERCC1		not provided	Likely benign (Feb 20, 2022)	criteria provided, single submitter
Select item 150165974.	NM_001983.4(ERCC1):c.526-1G>A GRCh37: Chr19:45920156 GRCh38: Chr19:45416898	ERCC1		not provided	Likely pathogenic (Aug 30, 2022)	criteria provided, single submitter
Select item 125771875.	NM_001983.4(ERCC1):c.526-109C>T GRCh37: Chr19:45920264 GRCh38: Chr19:45417006	ERCC1		not provided	Benign (Nov 11, 2018)	criteria provided, single submitter
Select item 122494376.	NM_001983.4(ERCC1):c.525+256TTTG[7] GRCh37: Chr19:45922080-45922081 GRCh38: Chr19:45418822-45418823	ERCC1		not provided	Benign (Aug 7, 2019)	criteria provided, single submitter
Select item 98124577.	NM_001983.4(ERCC1):c.321+61_525+132del GRCh37: Chr19:45922224-45924375 GRCh38: Chr19:45418966-45421117	ERCC1		Premature ovarian insufficiency, Cholestatic liver disease, Cutaneous photosensitivity, Failure to thrive, Global proximal tubulopathy	Pathogenic (Sep 10, 2018)	no assertion criteria provided
Select item 122863878.	NM_001983.4(ERCC1):c.525+33C>A GRCh37: Chr19:45922323 GRCh38: Chr19:45419065	ERCC1		not provided	Benign (Nov 11, 2018)	criteria provided, single submitter
Select item 48938379.	NM_001983.4(ERCC1):c.525+2T>C GRCh37: Chr19:45922354 GRCh38: Chr19:45419096	ERCC1		not provided	Pathogenic (Jan 29, 2018)	criteria provided, single submitter
Select item 191681880.	NM_001983.4(ERCC1):c.523G>T (p.Val175Leu) GRCh37: Chr19:45922358 GRCh38: Chr19:45419100	ERCC1	V175L	not provided	Uncertain significance (Jul 2, 2022)	criteria provided, single submitter
Select item 202504981.	NM_001983.4(ERCC1):c.502G>T (p.Val168Phe) GRCh37: Chr19:45922379 GRCh38: Chr19:45419121	ERCC1	V168F	not provided	Uncertain significance (Aug 19, 2022)	criteria provided, single submitter
Select item 201817082.	NM_001983.4(ERCC1):c.502G>A (p.Val168Ile) GRCh37: Chr19:45922379 GRCh38: Chr19:45419121	ERCC1	V168I	not provided	Uncertain significance (Jul 19, 2022)	criteria provided, single submitter
Select item 131134583.	NM_001983.4(ERCC1):c.482G>A (p.Gly161Glu) GRCh37: Chr19:45922399 GRCh38: Chr19:45419141	ERCC1	G161E	not provided	Uncertain significance (Dec 26, 2019)	criteria provided, single submitter
Select item 1677784.	NM_001983.4(ERCC1):c.472C>T (p.Gln158Ter) GRCh37: Chr19:45922409 GRCh38: Chr19:45419151	ERCC1	Q158*	Cerebrooculofacioskeletal syndrome 4	Pathogenic (Mar 1, 2007)	no assertion criteria provided
Select item 244200685.	NM_001983.4(ERCC1):c.467G>A (p.Arg156Gln) GRCh37: Chr19:45922414 GRCh38: Chr19:45419156	ERCC1	R156Q	Cerebrooculofacioskeletal syndrome 4	Uncertain significance (May 28, 2021)	criteria provided, single submitter
Select item 97847286.	NM_001983.4(ERCC1):c.466C>T (p.Arg156Trp) GRCh37: Chr19:45922415 GRCh38: Chr19:45419157	ERCC1	R156W	not provided, Cutaneous photosensitivity, Global proximal tubulopathy, Premature ovarian insufficiency, Failure to thrive, Cholestatic liver disease	Conflicting interpretations of pathogenicity (Oct 13, 2022)	criteria provided, conflicting interpretations
Select item 240192987.	NM_001983.4(ERCC1):c.442C>G (p.Leu148Val) GRCh37: Chr19:45922439 GRCh38: Chr19:45419181	ERCC1	L148V	Inborn genetic diseases	Uncertain significance (Jun 18, 2021)	criteria provided, single submitter
Select item 198202688.	NM_001983.4(ERCC1):c.426-6del GRCh37: Chr19:45922461 GRCh38: Chr19:45419203	ERCC1		not provided	Benign (Sep 9, 2022)	criteria provided, single submitter
Select item 73802489.	NM_001983.4(ERCC1):c.426-6C>T GRCh37: Chr19:45922461 GRCh38: Chr19:45419203	ERCC1		not provided	Likely benign (Mar 29, 2018)	criteria provided, single submitter
Select item 74665390.	NM_001983.4(ERCC1):c.426-7C>T GRCh37: Chr19:45922462 GRCh38: Chr19:45419204	ERCC1		not provided	Likely benign (Mar 30, 2018)	criteria provided, single submitter
Select item 190496991.	NM_001983.4(ERCC1):c.426-9C>T GRCh37: Chr19:45922464 GRCh38: Chr19:45419206	ERCC1		not provided	Likely benign (Aug 9, 2022)	criteria provided, single submitter
Select item 12706292.	NM_001983.4(ERCC1):c.426-11G>A GRCh37: Chr19:45922466 GRCh38: Chr19:45419208	ERCC1		not provided	not provided	no assertion provided
Select item 191111893.	NM_001983.4(ERCC1):c.426-19C>T GRCh37: Chr19:45922474 GRCh38: Chr19:45419216	ERCC1		not provided	Likely benign (Jul 15, 2022)	criteria provided, single submitter
Select item 119533394.	NM_001983.4(ERCC1):c.426-98C>T GRCh37: Chr19:45922553 GRCh38: Chr19:45419295	ERCC1		not provided	Likely benign (Jun 12, 2019)	criteria provided, single submitter
Select item 180456095.	NM_001983.4(ERCC1):c.426-168C>G GRCh37: Chr19:45922623 GRCh38: Chr19:45419365	ERCC1		not provided	Likely benign (Jun 12, 2019)	criteria provided, single submitter
Select item 128623496.	NM_001983.4(ERCC1):c.425+86A>G GRCh37: Chr19:45923496 GRCh38: Chr19:45420238	ERCC1		not provided	Benign (Nov 11, 2018)	criteria provided, single submitter
Select item 118222997.	NM_001983.4(ERCC1):c.425+35G>C GRCh37: Chr19:45923547 GRCh38: Chr19:45420289	ERCC1		not provided	Benign (Mar 24, 2019)	criteria provided, single submitter
Select item 63231498.	NM_001983.4(ERCC1):c.422del (p.Leu141fs) GRCh37: Chr19:45923585 GRCh38: Chr19:45420327	ERCC1	L141fs	Xeroderma pigmentosum, group D	Uncertain significance (Sep 6, 2017)	criteria provided, single submitter
Select item 32953699.	NM_001983.4(ERCC1):c.390T>C (p.Tyr130=) GRCh37: Chr19:45923617 GRCh38: Chr19:45420359	ERCC1		not provided	Benign/Likely benign (Oct 25, 2022)	criteria provided, multiple submitters, no conflicts
Select item 709100100.	NM_001983.4(ERCC1):c.384C>T (p.Pro128=) GRCh37: Chr19:45923623 GRCh38: Chr19:45420365	ERCC1		not provided	Likely benign (Jun 1, 2023)	criteria provided, multiple submitters, no conflicts

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