1294[geneid] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Result Filters

Search results

Items: 1 to 100 of 3777

<< First< Prev

Page of 38

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 1441681.	GRCh38/hg38 3p21.31-21.2(chr3:45879883-50749922)x4 GRCh37: Chr3:45921375-50787353 GRCh38: Chr3:45879883-50749922	ALS2CL, AMIGO3, AMT, APEH, ARIH2, ARIH2OS, ATRIP, ATRIP-TREX1, BSN, BSN-DT, C3orf18, C3orf62, C3orf84, CACNA2D2, CAMKV, CAMP, CCDC12, CCDC51, CCDC71, CCR1, CCR2, CCR3, CCR5, CCR5AS, CCR9, CCRL2, CDC25A, CDHR4, CELSR3, CISH, COL7A1, CRIPTO, CSPG5, CXCR6, CYB561D2, DAG1, DALRD3, DHX30, DOCK3, ELP6, FAM240A, FBXW12, FYCO1, GMPPB, GNAI2, GNAT1, GPX1, HEMK1, HYAL1, HYAL2, HYAL3, IFRD2, IHO1, IMPDH2, INKA1, IP6K1, IP6K2, KIF9, KIF9-AS1, KLHDC8B, KLHL18, LAMB2, LINC02009, LINC02019, LINC02585, LOC101928965, LOC110121200, LOC111591507, LOC112935943, LOC112935944, LOC112935945, LOC112935946, LOC115995510, LOC119086083, LOC121009664, LOC121009665, LOC121009666, LOC121009667, LOC121009668, LOC121009669, LOC121009670, LOC121009671, LOC121725144, LOC122889078, LOC122889079, LOC122889080, LOC122889081, LOC122889082, LOC122889083, LOC122889084, LOC122889085, LOC122889086, LOC122889087, LOC122889088, LOC126806671, LOC126806672, LOC126806673, LOC126806674, LOC126806675, LOC126806676, LOC127898564, LOC129389065, LOC129389066, LOC129389067, LOC129389068, LOC129389069, LOC129389070, LOC129389071, LOC129389072, LOC129389073, LOC129389074, LOC129389075, LOC129389076, LOC129389077, LOC129936634, LOC129936635, LOC129936636, LOC129936637, LOC129936638, LOC129936639, LOC129936640, LOC129936641, LOC129936642, LOC129936643, LOC129936644, LOC129936645, LOC129936646, LOC129936647, LOC129936648, LOC129936649, LOC129936650, LOC129936651, LOC129936652, LOC129936653, LOC129936654, LOC129936655, LOC129936656, LOC129936657, LOC129936658, LOC129936659, LOC129936660, LOC129936661, LOC129936662, LOC129936663, LOC129936664, LOC129936665, LOC129936666, LOC129936667, LOC129936668, LOC129936669, LOC129936670, LOC129936671, LOC129936672, LOC129936673, LOC129936674, LOC129936675, LOC129936676, LOC129936677, LOC129936678, LOC129936679, LOC129936680, LOC129936681, LOC129936682, LOC129936683, LOC129936684, LOC129936685, LOC129936686, LOC129936687, LOC129936688, LOC129936689, LOC129936690, LOC129936691, LOC129936692, LOC129936693, LOC129936694, LOC129936695, LOC129936696, LOC129936697, LOC129936698, LOC129936699, LOC129936700, LOC129936701, LOC129936702, LOC129936703, LOC129936704, LOC129936705, LOC129936706, LOC129936707, LOC129936708, LOC129936709, LOC129936710, LOC129936711, LOC129936712, LOC129936713, LOC129936714, LOC129936715, LOC129936716, LOC129936717, LOC129936718, LOC129936719, LOC129936720, LOC129936721, LOC129936722, LOC129936723, LOC129936724, LOC129936725, LOC129936726, LOC129936727, LOC129936728, LOC129936729, LOC129936730, LOC129936731, LOC129936732, LOC129936733, LOC129936734, LOC129936735, LOC129936736, LOC129936737, LOC129936738, LOC129936739, LOC129936740, LOC129936741, LOC129936742, LOC129936743, LOC129936744, LOC129936745, LOC129936746, LOC129936747, LOC129936748, LOC129936749, LOC129936750, LOC129936751, LOC129936752, LOC129936753, LOC129936754, LOC129936755, LOC129936756, LOC129936757, LOC129936758, LOC129936759, LOC129936760, LOC129936761, LOC129936762, LOC129936763, LOC129936764, LOC129936765, LOC129936766, LOC129936767, LOC129936768, LOC129936769, LOC129936770, LOC129936771, LOC129936772, LOC129936773, LOC129936774, LOC129936775, LOC129936776, LOC129936777, LOC129936778, LOC129936779, LOC129936780, LOC129936781, LOC129936782, LOC129936783, LOC129936784, LOC129936785, LOC129936786, LOC129936787, LOC129936788, LOC129936789, LOC129936790, LOC129936791, LOC129936792, LOC129936793, LOC129936794, LOC129936795, LOC129936796, LOC129936797, LOC129936798, LOC129936799, LOC129936800, LOC129936801, LOC129936802, LOC129936803, LOC129936804, LOC129936805, LOC129936806, LOC129936807, LOC129936808, LOC129936809, LOC129936810, LOC129936811, LOC132088966, LOC132088967, LOC132088968, LOC132088969, LOC132088970, LRRC2, LRRC2-AS1, LSMEM2, LTF, LZTFL1, MAP4, MAPKAPK3, MIR1226, MIR191, MIR2115, MIR425, MIR4271, MIR4443, MIR4787, MIR4793, MIR5193, MIR5787, MIR6823, MIR6824, MIR6872, MIR6890, MIR711, MON1A, MST1, MST1R, MYL3, NAA80, NBEAL2, NCKIPSD, NDUFAF3, NICN1, NME6, NPRL2, P4HTM, PFKFB4, PLXNB1, PRKAR2A, PRKAR2A-AS1, PRSS50, PTH1R, PTPN23, PTPN23-DT, QARS1, QRICH1, RASSF1, RASSF1-AS1, RBM5, RBM5-AS1, RBM6, RHOA, RNF123, RTP3, SCAP, SEMA3B, SEMA3B-AS1, SEMA3F, SEMA3F-AS1, SETD2, SHISA5, SLC25A20, SLC26A6, SLC38A3, SMARCC1, SNORA94, SNORD13J, SNORD146, SPINK8, TCTA, TMA7, TMEM115, TMEM89, TMIE, TRAIP, TREX1, TUSC2, UBA7, UCN2, UQCRC1, USP19, USP4, WDR6, XCR1, ZMYND10, ZNF589		See cases	Pathogenic (Sep 23, 2013)	no assertion criteria provided
Select item 2213822.	GRCh38/hg38 3p21.31(chr3:48562955-48587488)x1 GRCh37: Chr3:48600388-48624921 GRCh38: Chr3:48562955-48587488	UCN2, PFKFB4, COL7A1, MIR711		Ductal breast carcinoma	Uncertain significance (Jul 20, 2015)	no assertion criteria provided
Select item 9030693.	NM_000094.4(COL7A1):c.*270G>T GRCh37: Chr3:48601569 GRCh38: Chr3:48564136	COL7A1		Epidermolysis bullosa dystrophica	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 9030704.	NM_000094.4(COL7A1):c.*216G>C GRCh37: Chr3:48601623 GRCh38: Chr3:48564190	COL7A1		Epidermolysis bullosa dystrophica	Benign (Jan 12, 2018)	criteria provided, single submitter
Select item 8994465.	NM_000094.4(COL7A1):c.*162C>A GRCh37: Chr3:48601677 GRCh38: Chr3:48564244	COL7A1		Epidermolysis bullosa dystrophica	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 8994456.	NM_000094.4(COL7A1):c.*162C>T GRCh37: Chr3:48601677 GRCh38: Chr3:48564244	COL7A1		Epidermolysis bullosa dystrophica	Likely benign (Jan 13, 2018)	criteria provided, single submitter
Select item 3457877.	NM_000094.4(COL7A1):c.*105C>T GRCh37: Chr3:48601734 GRCh38: Chr3:48564301	COL7A1		Epidermolysis bullosa dystrophica	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 8994478.	NM_000094.4(COL7A1):c.*87G>A GRCh37: Chr3:48601752 GRCh38: Chr3:48564319	COL7A1		Epidermolysis bullosa dystrophica	Uncertain significance (Apr 27, 2017)	criteria provided, single submitter
Select item 3457889.	NM_000094.4(COL7A1):c.*65T>C GRCh37: Chr3:48601774 GRCh38: Chr3:48564341	COL7A1		Epidermolysis bullosa dystrophica	Benign (Jan 13, 2018)	criteria provided, single submitter
Select item 34578910.	NM_000094.4(COL7A1):c.*40A>T GRCh37: Chr3:48601799 GRCh38: Chr3:48564366	COL7A1		Epidermolysis bullosa dystrophica	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 141531111.	NM_000094.4(COL7A1):c.8824G>T (p.Ala2942Ser) GRCh37: Chr3:48601850 GRCh38: Chr3:48564417	COL7A1	A2942S	not provided	Uncertain significance (Oct 28, 2021)	criteria provided, single submitter
Select item 72971412.	NM_000094.4(COL7A1):c.8819-3C>T GRCh37: Chr3:48601858 GRCh38: Chr3:48564425	COL7A1		not provided	Likely benign (Oct 23, 2022)	criteria provided, single submitter
Select item 164030613.	NM_000094.4(COL7A1):c.8819-6C>T GRCh37: Chr3:48601861 GRCh38: Chr3:48564428	COL7A1		not provided	Likely benign (Jun 15, 2022)	criteria provided, single submitter
Select item 219130914.	NM_000094.4(COL7A1):c.8819-18C>A GRCh37: Chr3:48601873 GRCh38: Chr3:48564440	COL7A1		not provided	Likely benign (Jan 16, 2022)	criteria provided, single submitter
Select item 241581015.	NM_000094.4(COL7A1):c.8818+20C>T GRCh37: Chr3:48602196 GRCh38: Chr3:48564763	COL7A1		not provided	Likely benign (May 8, 2022)	criteria provided, single submitter
Select item 109640516.	NM_000094.4(COL7A1):c.8818+10G>T GRCh37: Chr3:48602206 GRCh38: Chr3:48564773	COL7A1		not provided	Likely benign (Mar 8, 2022)	criteria provided, single submitter
Select item 210013717.	NM_000094.4(COL7A1):c.8818+9T>C GRCh37: Chr3:48602207 GRCh38: Chr3:48564774	COL7A1		not provided	Likely benign (Feb 20, 2022)	criteria provided, single submitter
Select item 215781818.	NM_000094.4(COL7A1):c.8818+4T>G GRCh37: Chr3:48602212 GRCh38: Chr3:48564779	COL7A1		not provided	Uncertain significance (Aug 24, 2022)	criteria provided, single submitter
Select item 144036619.	NM_000094.4(COL7A1):c.8818+2T>A GRCh37: Chr3:48602214 GRCh38: Chr3:48564781	COL7A1		not provided	Uncertain significance (Jul 14, 2021)	criteria provided, single submitter
Select item 98969120.	NM_000094.4(COL7A1):c.8817A>G (p.Thr2939=) GRCh37: Chr3:48602217 GRCh38: Chr3:48564784	COL7A1		Epidermolysis bullosa dystrophica inversa, autosomal recessive	Uncertain significance (Nov 14, 2020)	no assertion criteria provided
Select item 158936921.	NM_000094.4(COL7A1):c.8814G>A (p.Gly2938=) GRCh37: Chr3:48602220 GRCh38: Chr3:48564787	COL7A1		not provided	Likely benign (Aug 12, 2021)	criteria provided, single submitter
Select item 190788822.	NM_000094.4(COL7A1):c.8809C>G (p.Gln2937Glu) GRCh37: Chr3:48602225 GRCh38: Chr3:48564792	COL7A1	Q2937E	not provided	Uncertain significance (Aug 29, 2022)	criteria provided, single submitter
Select item 214997823.	NM_000094.4(COL7A1):c.8808C>G (p.Ser2936Arg) GRCh37: Chr3:48602226 GRCh38: Chr3:48564793	COL7A1	S2936R	not provided	Benign (Sep 10, 2022)	criteria provided, single submitter
Select item 99808524.	NM_000094.4(COL7A1):c.8803C>T (p.Gln2935Ter) GRCh37: Chr3:48602231 GRCh38: Chr3:48564798	COL7A1	Q2935*	not provided, Epidermolysis bullosa pruriginosa	Conflicting interpretations of pathogenicity (Aug 28, 2022)	criteria provided, conflicting interpretations
Select item 98969225.	NM_000094.4(COL7A1):c.8800G>T (p.Val2934Phe) GRCh37: Chr3:48602234 GRCh38: Chr3:48564801	COL7A1	V2934F	not specified	Uncertain significance (Aug 9, 2023)	criteria provided, single submitter
Select item 208441126.	NM_000094.4(COL7A1):c.8797G>C (p.Val2933Leu) GRCh37: Chr3:48602237 GRCh38: Chr3:48564804	COL7A1	V2933L	not provided	Uncertain significance (May 22, 2022)	criteria provided, single submitter
Select item 212017027.	NM_000094.4(COL7A1):c.8796G>T (p.Arg2932=) GRCh37: Chr3:48602238 GRCh38: Chr3:48564805	COL7A1		not provided	Likely benign (Jul 20, 2022)	criteria provided, single submitter
Select item 215573528.	NM_000094.4(COL7A1):c.8794C>T (p.Arg2932Trp) GRCh37: Chr3:48602240 GRCh38: Chr3:48564807	COL7A1	R2932W	not provided	Likely benign (Aug 19, 2022)	criteria provided, single submitter
Select item 215330029.	NM_000094.4(COL7A1):c.8793C>T (p.Pro2931=) GRCh37: Chr3:48602241 GRCh38: Chr3:48564808	COL7A1		not provided	Likely benign (Sep 14, 2022)	criteria provided, single submitter
Select item 72161430.	NM_000094.4(COL7A1):c.8791C>T (p.Pro2931Ser) GRCh37: Chr3:48602243 GRCh38: Chr3:48564810	COL7A1	P2931S	not provided	Likely benign (Oct 11, 2022)	criteria provided, single submitter
Select item 212571731.	NM_000094.4(COL7A1):c.8790A>T (p.Pro2930=) GRCh37: Chr3:48602244 GRCh38: Chr3:48564811	COL7A1		not provided	Likely benign (Apr 24, 2022)	criteria provided, single submitter
Select item 89944832.	NM_000094.4(COL7A1):c.8783G>A (p.Arg2928His) GRCh37: Chr3:48602251 GRCh38: Chr3:48564818	COL7A1	R2928H	not provided, Epidermolysis bullosa dystrophica	Conflicting interpretations of pathogenicity (May 10, 2023)	criteria provided, conflicting interpretations
Select item 242440733.	NM_000094.4(COL7A1):c.8782C>T (p.Arg2928Cys) GRCh37: Chr3:48602252 GRCh38: Chr3:48564819	COL7A1	R2928C	not provided	Uncertain significance (Mar 29, 2022)	criteria provided, single submitter
Select item 168765334.	NM_000094.4(COL7A1):c.8780G>A (p.Arg2927His) GRCh37: Chr3:48602254 GRCh38: Chr3:48564821	COL7A1	R2927H	Nonsyndromic congenital nail disorder 8, Pretibial blistering, Epidermolysis bullosa pruriginosa, Dominant dystrophic epidermolysis bullosa with absence of skin, Recessive dystrophic epidermolysis bullosa, Generalized dominant dystrophic epidermolysis bullosa, Transient bullous dermolysis of the newborn, not provided	Conflicting interpretations of pathogenicity (Oct 26, 2022)	criteria provided, conflicting interpretations
Select item 89944935.	NM_000094.4(COL7A1):c.8779C>T (p.Arg2927Cys) GRCh37: Chr3:48602255 GRCh38: Chr3:48564822	COL7A1	R2927C	not provided, Epidermolysis bullosa dystrophica	Conflicting interpretations of pathogenicity (Jun 23, 2022)	criteria provided, conflicting interpretations
Select item 265379336.	NM_000094.4(COL7A1):c.8770G>A (p.Ala2924Thr) GRCh37: Chr3:48602264 GRCh38: Chr3:48564831	COL7A1	A2924T	not provided	Uncertain significance (Aug 1, 2023)	criteria provided, single submitter
Select item 156429537.	NM_000094.4(COL7A1):c.8769G>A (p.Glu2923=) GRCh37: Chr3:48602265 GRCh38: Chr3:48564832	COL7A1		not provided	Likely benign (Apr 14, 2022)	criteria provided, single submitter
Select item 153416938.	NM_000094.4(COL7A1):c.8763C>G (p.Thr2921=) GRCh37: Chr3:48602271 GRCh38: Chr3:48564838	COL7A1		not provided	Likely benign (Feb 16, 2021)	criteria provided, single submitter
Select item 194859239.	NM_000094.4(COL7A1):c.8761A>G (p.Thr2921Ala) GRCh37: Chr3:48602273 GRCh38: Chr3:48564840	COL7A1	T2921A	not provided	Uncertain significance (May 7, 2021)	criteria provided, single submitter
Select item 114353140.	NM_000094.4(COL7A1):c.8760G>A (p.Gly2920=) GRCh37: Chr3:48602274 GRCh38: Chr3:48564841	COL7A1		not provided	Likely benign (Jul 23, 2020)	criteria provided, single submitter
Select item 217969741.	NM_000094.4(COL7A1):c.8759G>A (p.Gly2920Glu) GRCh37: Chr3:48602275 GRCh38: Chr3:48564842	COL7A1	G2920E	not provided	Uncertain significance (Jul 7, 2021)	criteria provided, single submitter
Select item 215469042.	NM_000094.4(COL7A1):c.8752C>T (p.Arg2918Cys) GRCh37: Chr3:48602282 GRCh38: Chr3:48564849	COL7A1	R2918C	not provided	Uncertain significance (Apr 1, 2022)	criteria provided, single submitter
Select item 189945743.	NM_000094.4(COL7A1):c.8748C>T (p.Ala2916=) GRCh37: Chr3:48602286 GRCh38: Chr3:48564853	COL7A1		not provided	Likely benign (Aug 24, 2022)	criteria provided, single submitter
Select item 191066744.	NM_000094.4(COL7A1):c.8747C>T (p.Ala2916Val) GRCh37: Chr3:48602287 GRCh38: Chr3:48564854	COL7A1	A2916V	not provided	Uncertain significance (Nov 23, 2020)	criteria provided, single submitter
Select item 146641045.	NM_000094.4(COL7A1):c.8726A>G (p.Tyr2909Cys) GRCh37: Chr3:48602308 GRCh38: Chr3:48564875	COL7A1	Y2909C	not provided	Uncertain significance (Jul 6, 2022)	criteria provided, single submitter
Select item 104795446.	NM_000094.4(COL7A1):c.8717del (p.Pro2906fs) GRCh37: Chr3:48602317 GRCh38: Chr3:48564884	COL7A1	P2906fs	Epidermolysis bullosa dystrophica	Pathogenic (Nov 26, 2018)	criteria provided, single submitter
Select item 208631847.	NM_000094.4(COL7A1):c.8716C>G (p.Pro2906Ala) GRCh37: Chr3:48602318 GRCh38: Chr3:48564885	COL7A1	P2906A	not provided	Uncertain significance (Mar 12, 2022)	criteria provided, single submitter
Select item 114657948.	NM_000094.4(COL7A1):c.8709C>T (p.Ala2903=) GRCh37: Chr3:48602325 GRCh38: Chr3:48564892	COL7A1		not provided	Likely benign (Jul 11, 2022)	criteria provided, single submitter
Select item 111424149.	NM_000094.4(COL7A1):c.8709C>G (p.Ala2903=) GRCh37: Chr3:48602325 GRCh38: Chr3:48564892	COL7A1		not provided	Likely benign (Feb 19, 2022)	criteria provided, single submitter
Select item 220335150.	NM_000094.4(COL7A1):c.8698_8708del (p.Ser2900fs) GRCh37: Chr3:48602326-48602336 GRCh38: Chr3:48564893-48564903	COL7A1	S2900fs	not provided	Pathogenic (Sep 3, 2022)	criteria provided, single submitter
Select item 217683251.	NM_000094.4(COL7A1):c.8707G>A (p.Ala2903Thr) GRCh37: Chr3:48602327 GRCh38: Chr3:48564894	COL7A1	A2903T	not provided	Likely benign (Nov 1, 2022)	criteria provided, single submitter
Select item 145261452.	NM_000094.4(COL7A1):c.8707del (p.Ala2903fs) GRCh37: Chr3:48602327 GRCh38: Chr3:48564894	COL7A1	A2903fs	not provided	Pathogenic (Mar 17, 2022)	criteria provided, single submitter
Select item 201339053.	NM_000094.4(COL7A1):c.8685G>A (p.Arg2895=) GRCh37: Chr3:48602349 GRCh38: Chr3:48564916	COL7A1		not provided	Likely benign (Jul 3, 2022)	criteria provided, single submitter
Select item 160909454.	NM_000094.4(COL7A1):c.8685G>T (p.Arg2895=) GRCh37: Chr3:48602349 GRCh38: Chr3:48564916	COL7A1		not provided	Likely benign (Feb 9, 2022)	criteria provided, single submitter
Select item 148154355.	NM_000094.4(COL7A1):c.8684G>C (p.Arg2895Pro) GRCh37: Chr3:48602350 GRCh38: Chr3:48564917	COL7A1	R2895P	not provided	Uncertain significance (Nov 13, 2021)	criteria provided, single submitter
Select item 117751256.	NM_000094.4(COL7A1):c.8684G>A (p.Arg2895Gln) GRCh37: Chr3:48602350 GRCh38: Chr3:48564917	COL7A1	R2895Q	not provided	Uncertain significance (Feb 2, 2022)	criteria provided, single submitter
Select item 93325157.	NM_000094.4(COL7A1):c.8679C>G (p.Tyr2893Ter) GRCh37: Chr3:48602355 GRCh38: Chr3:48564922	COL7A1	Y2893*	not provided	Pathogenic (Aug 24, 2019)	criteria provided, single submitter
Select item 141901958.	NM_000094.4(COL7A1):c.8676G>T (p.Trp2892Cys) GRCh37: Chr3:48602358 GRCh38: Chr3:48564925	COL7A1	W2892C	not provided	Uncertain significance (May 12, 2022)	criteria provided, single submitter
Select item 203333159.	NM_000094.4(COL7A1):c.8673C>T (p.Arg2891=) GRCh37: Chr3:48602361 GRCh38: Chr3:48564928	COL7A1		not provided	Likely benign (Sep 29, 2022)	criteria provided, single submitter
Select item 241810060.	NM_000094.4(COL7A1):c.8671C>T (p.Arg2891Cys) GRCh37: Chr3:48602363 GRCh38: Chr3:48564930	COL7A1	R2891C	not provided	Uncertain significance (Feb 25, 2022)	criteria provided, single submitter
Select item 153557061.	NM_000094.4(COL7A1):c.8668C>T (p.Leu2890=) GRCh37: Chr3:48602366 GRCh38: Chr3:48564933	COL7A1		not provided	Likely benign (Sep 14, 2022)	criteria provided, single submitter
Select item 203593062.	NM_000094.4(COL7A1):c.8667C>T (p.Thr2889=) GRCh37: Chr3:48602367 GRCh38: Chr3:48564934	COL7A1		not provided	Likely benign (Oct 17, 2022)	criteria provided, single submitter
Select item 159199663.	NM_000094.4(COL7A1):c.8667C>G (p.Thr2889=) GRCh37: Chr3:48602367 GRCh38: Chr3:48564934	COL7A1		not provided	Likely benign (Sep 22, 2021)	criteria provided, single submitter
Select item 217970664.	NM_000094.4(COL7A1):c.8666C>T (p.Thr2889Ile) GRCh37: Chr3:48602368 GRCh38: Chr3:48564935	COL7A1	T2889I	not provided	Uncertain significance (Feb 6, 2022)	criteria provided, single submitter
Select item 202884065.	NM_000094.4(COL7A1):c.8664del (p.Ala2887_Tyr2888insTer) GRCh37: Chr3:48602370 GRCh38: Chr3:48564937	COL7A1		not provided	Pathogenic (Sep 3, 2022)	criteria provided, single submitter
Select item 108356866.	NM_000094.4(COL7A1):c.8664C>T (p.Tyr2888=) GRCh37: Chr3:48602370 GRCh38: Chr3:48564937	COL7A1		not provided	Likely benign (Aug 21, 2022)	criteria provided, single submitter
Select item 109943167.	NM_000094.4(COL7A1):c.8661C>T (p.Ala2887=) GRCh37: Chr3:48602373 GRCh38: Chr3:48564940	COL7A1		not provided	Likely benign (Sep 25, 2022)	criteria provided, single submitter
Select item 150779368.	NM_000094.4(COL7A1):c.8657C>T (p.Thr2886Ile) GRCh37: Chr3:48602377 GRCh38: Chr3:48564944	COL7A1	T2886I	not provided	Uncertain significance (Aug 27, 2021)	criteria provided, single submitter
Select item 149697269.	NM_000094.4(COL7A1):c.8654G>A (p.Cys2885Tyr) GRCh37: Chr3:48602380 GRCh38: Chr3:48564947	COL7A1	C2885Y	not provided	Pathogenic (Aug 1, 2022)	criteria provided, single submitter
Select item 195254970.	NM_000094.4(COL7A1):c.8647G>A (p.Gly2883Ser) GRCh37: Chr3:48602387 GRCh38: Chr3:48564954	COL7A1	G2883S	not provided	Uncertain significance (May 31, 2021)	criteria provided, single submitter
Select item 106202871.	NM_000094.4(COL7A1):c.8635C>T (p.Pro2879Ser) GRCh37: Chr3:48602399 GRCh38: Chr3:48564966	COL7A1	P2879S	not provided	Uncertain significance (Jul 13, 2022)	criteria provided, single submitter
Select item 34579072.	NM_000094.4(COL7A1):c.8631C>A (p.Ser2877=) GRCh37: Chr3:48602403 GRCh38: Chr3:48564970	COL7A1		Epidermolysis bullosa dystrophica	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 214336473.	NM_000094.4(COL7A1):c.8626T>C (p.Cys2876Arg) GRCh37: Chr3:48602408 GRCh38: Chr3:48564975	COL7A1	C2876R	not provided	Likely pathogenic (Sep 13, 2022)	criteria provided, single submitter
Select item 161973174.	NM_000094.4(COL7A1):c.8621-5C>A GRCh37: Chr3:48602418 GRCh38: Chr3:48564985	COL7A1		not provided	Likely benign (Nov 30, 2021)	criteria provided, single submitter
Select item 159124575.	NM_000094.4(COL7A1):c.8621-5C>T GRCh37: Chr3:48602418 GRCh38: Chr3:48564985	COL7A1		not provided	Likely benign (Aug 7, 2021)	criteria provided, single submitter
Select item 156691976.	NM_000094.4(COL7A1):c.8621-9T>C GRCh37: Chr3:48602422 GRCh38: Chr3:48564989	COL7A1		not provided	Likely benign (Jun 18, 2021)	criteria provided, single submitter
Select item 220335277.	NM_000094.4(COL7A1):c.8620+26G>A GRCh37: Chr3:48602516 GRCh38: Chr3:48565083	COL7A1		not provided	Likely benign (Jun 3, 2022)	criteria provided, single submitter
Select item 129198778.	NM_000094.4(COL7A1):c.8620+23G>A GRCh37: Chr3:48602519 GRCh38: Chr3:48565086	COL7A1		not provided	Benign (Mar 8, 2019)	criteria provided, single submitter
Select item 159438079.	NM_000094.4(COL7A1):c.8620+18_8620+19insCTC GRCh37: Chr3:48602523-48602524 GRCh38: Chr3:48565090-48565091	COL7A1		not provided	Likely benign (Aug 16, 2022)	criteria provided, single submitter
Select item 25511580.	NM_000094.4(COL7A1):c.8620+18_8620+19insCGC GRCh37: Chr3:48602523-48602524 GRCh38: Chr3:48565090-48565091	COL7A1		not provided, not specified	Benign/Likely benign (Nov 4, 2022)	criteria provided, multiple submitters, no conflicts
Select item 160044981.	NM_000094.4(COL7A1):c.8620+17_8620+18insTGC GRCh37: Chr3:48602524-48602525 GRCh38: Chr3:48565091-48565092	COL7A1		not provided	Benign (Jun 13, 2022)	criteria provided, single submitter
Select item 156288282.	NM_000094.4(COL7A1):c.8620+10G>A GRCh37: Chr3:48602532 GRCh38: Chr3:48565099	COL7A1		not provided	Likely benign (Jun 6, 2021)	criteria provided, single submitter
Select item 160572983.	NM_000094.4(COL7A1):c.8620+8T>C GRCh37: Chr3:48602534 GRCh38: Chr3:48565101	COL7A1		not provided	Likely benign (Sep 19, 2021)	criteria provided, single submitter
Select item 189697784.	NM_000094.4(COL7A1):c.8612A>G (p.Asp2871Gly) GRCh37: Chr3:48602550 GRCh38: Chr3:48565117	COL7A1	D2871G	not provided	Uncertain significance (Oct 2, 2020)	criteria provided, single submitter
Select item 90057485.	NM_000094.4(COL7A1):c.8611G>A (p.Asp2871Asn) GRCh37: Chr3:48602551 GRCh38: Chr3:48565118	COL7A1	D2871N	not provided, Epidermolysis bullosa dystrophica	Conflicting interpretations of pathogenicity (Sep 20, 2022)	criteria provided, conflicting interpretations
Select item 171871486.	NM_000094.4(COL7A1):c.8610G>C (p.Trp2870Cys) GRCh37: Chr3:48602552 GRCh38: Chr3:48565119	COL7A1	W2870C	not provided	Uncertain significance (Sep 2, 2022)	criteria provided, single submitter
Select item 204292687.	NM_000094.4(COL7A1):c.8601A>G (p.Glu2867=) GRCh37: Chr3:48602561 GRCh38: Chr3:48565128	COL7A1		not provided	Likely benign (Mar 18, 2022)	criteria provided, single submitter
Select item 114281088.	NM_000094.4(COL7A1):c.8589C>T (p.Tyr2863=) GRCh37: Chr3:48602573 GRCh38: Chr3:48565140	COL7A1		not provided	Likely benign (Sep 30, 2020)	criteria provided, single submitter
Select item 155730489.	NM_000094.4(COL7A1):c.8586G>A (p.Glu2862=) GRCh37: Chr3:48602576 GRCh38: Chr3:48565143	COL7A1		not provided	Likely benign (Nov 16, 2021)	criteria provided, single submitter
Select item 107491690.	NM_000094.4(COL7A1):c.8584G>T (p.Glu2862Ter) GRCh37: Chr3:48602578 GRCh38: Chr3:48565145	COL7A1	E2862*	not provided	Pathogenic (Oct 27, 2020)	criteria provided, single submitter
Select item 72042191.	NM_000094.4(COL7A1):c.8583G>A (p.Glu2861=) GRCh37: Chr3:48602579 GRCh38: Chr3:48565146	COL7A1		not provided	Likely benign (Dec 15, 2021)	criteria provided, single submitter
Select item 200964692.	NM_000094.4(COL7A1):c.8581G>C (p.Glu2861Gln) GRCh37: Chr3:48602581 GRCh38: Chr3:48565148	COL7A1	E2861Q	not provided	Uncertain significance (Jun 23, 2022)	criteria provided, single submitter
Select item 202833693.	NM_000094.4(COL7A1):c.8574T>G (p.Tyr2858Ter) GRCh37: Chr3:48602588 GRCh38: Chr3:48565155	COL7A1	Y2858*	not provided	Pathogenic (Sep 1, 2022)	criteria provided, single submitter
Select item 104795394.	NM_000094.4(COL7A1):c.8572T>C (p.Tyr2858His) GRCh37: Chr3:48602590 GRCh38: Chr3:48565157	COL7A1	Y2858H	Epidermolysis bullosa dystrophica	Pathogenic (Nov 26, 2018)	criteria provided, single submitter
Select item 133905395.	NM_000094.4(COL7A1):c.8569G>T (p.Glu2857Ter) GRCh37: Chr3:48602593 GRCh38: Chr3:48565160	COL7A1	E2857*	Recessive dystrophic epidermolysis bullosa	Likely pathogenic	criteria provided, single submitter
Select item 98969396.	NM_000094.4(COL7A1):c.8569G>A (p.Glu2857Lys) GRCh37: Chr3:48602593 GRCh38: Chr3:48565160	COL7A1	E2857K	Inborn genetic diseases, not provided	Conflicting interpretations of pathogenicity (Jan 11, 2023)	criteria provided, conflicting interpretations
Select item 93362297.	NM_000094.4(COL7A1):c.8558_8568del (p.Tyr2852_Ser2853insTer) GRCh37: Chr3:48602594-48602604 GRCh38: Chr3:48565161-48565171	COL7A1		not provided	Pathogenic (May 20, 2019)	criteria provided, single submitter
Select item 34579198.	NM_000094.4(COL7A1):c.8568C>T (p.Ser2856=) GRCh37: Chr3:48602594 GRCh38: Chr3:48565161	COL7A1		not provided, Epidermolysis bullosa dystrophica	Conflicting interpretations of pathogenicity (Oct 27, 2022)	criteria provided, conflicting interpretations
Select item 104795299.	NM_000094.4(COL7A1):c.8537_8565del (p.Pro2846fs) GRCh37: Chr3:48602597-48602625 GRCh38: Chr3:48565164-48565192	COL7A1	P2846fs	Epidermolysis bullosa dystrophica	Pathogenic (Feb 26, 2018)	criteria provided, single submitter
Select item 1422271100.	NM_000094.4(COL7A1):c.8542G>A (p.Glu2848Lys) GRCh37: Chr3:48602620 GRCh38: Chr3:48565187	COL7A1	E2848K	not provided	Uncertain significance (Aug 27, 2021)	criteria provided, single submitter

<< First< Prev

Page of 38