ClinVar for MedGen (Select 41678) - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 24412131.	NM_003640.5(ELP1):c.605G>A (p.Gly202Glu) GRCh37: Chr9:111681577 GRCh38: Chr9:108919297	ELP1	G202E, G88E	Familial dysautonomia	Uncertain significance (Sep 13, 2022)	criteria provided, single submitter
Select item 17269092.	NM_003640.5(ELP1):c.1780A>T (p.Lys594Ter) GRCh37: Chr9:111665193 GRCh38: Chr9:108902913	ELP1	K245, K480, K594*	Familial dysautonomia	Likely pathogenic (Jan 2, 2022)	criteria provided, single submitter
Select item 17268813.	NM_003640.5(ELP1):c.1113T>A (p.Tyr371Ter) GRCh37: Chr9:111674620 GRCh38: Chr9:108912340	ELP1	Y22, Y257, Y371*	Familial dysautonomia	Likely pathogenic (Jan 2, 2022)	criteria provided, single submitter
Select item 17268004.	NM_003640.5(ELP1):c.812del (p.Asn271fs) GRCh37: Chr9:111679879 GRCh38: Chr9:108917599	ELP1	N157fs, N271fs	Familial dysautonomia	Likely pathogenic (Jan 2, 2022)	criteria provided, single submitter
Select item 17267995.	NM_003640.5(ELP1):c.3316_3317insCACGACGA (p.Glu1106fs) GRCh37: Chr9:111644014-111644015 GRCh38: Chr9:108881734-108881735	ELP1	E1106fs, E757fs, E992fs	Familial dysautonomia	Likely pathogenic (Jan 2, 2022)	criteria provided, single submitter
Select item 17267286.	NM_003640.5(ELP1):c.1955T>A (p.Leu652Ter) GRCh37: Chr9:111663764 GRCh38: Chr9:108901484	ELP1	L303, L538, L652*	Familial dysautonomia	Likely pathogenic (Dec 31, 2021)	criteria provided, single submitter
Select item 17263817.	NM_003640.5(ELP1):c.2699_2700insGAGGGGC (p.Phe900fs) GRCh37: Chr9:111658812-111658813 GRCh38: Chr9:108896532-108896533	ELP1	F551fs, F786fs, F900fs	Familial dysautonomia	Likely pathogenic (Dec 16, 2021)	criteria provided, single submitter
Select item 17263428.	NM_003640.5(ELP1):c.3115_3116del (p.Asn1039fs) GRCh37: Chr9:111653527-111653528 GRCh38: Chr9:108891247-108891248	ELP1	N690fs, N925fs, N1039fs	Familial dysautonomia	Likely pathogenic (Dec 16, 2021)	criteria provided, single submitter
Select item 17263149.	NM_003640.5(ELP1):c.1027A>T (p.Lys343Ter) GRCh37: Chr9:111674706 GRCh38: Chr9:108912426	ELP1	K229, K343	Familial dysautonomia	Likely pathogenic (Dec 16, 2021)	criteria provided, single submitter
Select item 172631210.	NM_003640.5(ELP1):c.2562del (p.Leu855fs) GRCh37: Chr9:111659258 GRCh38: Chr9:108896978	ELP1	L506fs, L741fs, L855fs	Familial dysautonomia	Likely pathogenic (Dec 16, 2021)	criteria provided, single submitter
Select item 172629811.	NM_003640.5(ELP1):c.2779del (p.Met927fs) GRCh37: Chr9:111656304 GRCh38: Chr9:108894024	ELP1	M578fs, M813fs, M927fs	Familial dysautonomia	Likely pathogenic (Dec 13, 2021)	criteria provided, single submitter
Select item 172610512.	NM_003640.5(ELP1):c.3363_3366del (p.Met1121fs) GRCh37: Chr9:111642426-111642429 GRCh38: Chr9:108880146-108880149	ELP1	M1007fs, M1121fs, M772fs	Familial dysautonomia	Likely pathogenic (May 18, 2022)	criteria provided, single submitter
Select item 172604613.	NM_003640.5(ELP1):c.2474dup (p.Val826fs) GRCh37: Chr9:111659454-111659455 GRCh38: Chr9:108897174-108897175	ELP1	V477fs, V712fs, V826fs	Familial dysautonomia	Likely pathogenic (May 12, 2022)	criteria provided, single submitter
Select item 172602714.	NM_003640.5(ELP1):c.3719T>G (p.Leu1240Ter) GRCh37: Chr9:111640411 GRCh38: Chr9:108878131	ELP1	L1126, L1240, L891*	Familial dysautonomia	Likely pathogenic (May 7, 2022)	criteria provided, single submitter
Select item 172598415.	NM_003640.5(ELP1):c.3514_3516delinsTT (p.Val1172fs) GRCh37: Chr9:111641782-111641784 GRCh38: Chr9:108879502-108879504	ELP1	V1058fs, V1172fs, V823fs	Familial dysautonomia	Likely pathogenic (Apr 29, 2022)	criteria provided, single submitter
Select item 172566716.	NM_003640.5(ELP1):c.252_255del (p.Cys84fs) GRCh37: Chr9:111692097-111692100 GRCh38: Chr9:108929817-108929820	ELP1	C84fs	not provided, Familial dysautonomia	Pathogenic/Likely pathogenic (Apr 8, 2022)	criteria provided, multiple submitters, no conflicts
Select item 172565817.	NM_003640.5(ELP1):c.1934del (p.Ala645fs) GRCh37: Chr9:111663785 GRCh38: Chr9:108901505	ELP1	A296fs, A531fs, A645fs	Familial dysautonomia	Likely pathogenic (Mar 30, 2022)	criteria provided, single submitter
Select item 172565418.	NM_003640.5(ELP1):c.574del (p.Asp192fs) GRCh37: Chr9:111681608 GRCh38: Chr9:108919328	ELP1	D192fs, D78fs	Familial dysautonomia	Likely pathogenic (Mar 30, 2022)	criteria provided, single submitter
Select item 172562019.	NM_003640.5(ELP1):c.2911_2913delinsA (p.Tyr971fs) GRCh37: Chr9:111655311-111655313 GRCh38: Chr9:108893031-108893033	ELP1	Y622fs, Y857fs, Y971fs	Familial dysautonomia	Likely pathogenic (Mar 30, 2022)	criteria provided, single submitter
Select item 172561920.	NM_003640.5(ELP1):c.2731_2732del (p.Gln911fs) GRCh37: Chr9:111658780-111658781 GRCh38: Chr9:108896500-108896501	ELP1	Q562fs, Q797fs, Q911fs	Familial dysautonomia	Likely pathogenic (Mar 30, 2022)	criteria provided, single submitter
Select item 172555121.	NM_003640.5(ELP1):c.2281A>T (p.Lys761Ter) GRCh37: Chr9:111660953 GRCh38: Chr9:108898673	ELP1	K412, K647, K761*	Familial dysautonomia	Likely pathogenic (Mar 30, 2022)	criteria provided, single submitter
Select item 172553522.	NM_003640.5(ELP1):c.1202_1203del (p.Val401fs) GRCh37: Chr9:111673447-111673448 GRCh38: Chr9:108911167-108911168	ELP1	V287fs, V401fs, V52fs	Familial dysautonomia	Likely pathogenic (Mar 30, 2022)	criteria provided, single submitter
Select item 172549823.	NM_003640.5(ELP1):c.639C>A (p.Cys213Ter) GRCh37: Chr9:111681543 GRCh38: Chr9:108919263	ELP1	C213, C99	Familial dysautonomia	Likely pathogenic (Mar 29, 2022)	criteria provided, single submitter
Select item 172542224.	NM_003640.5(ELP1):c.3510del (p.Ser1170fs) GRCh37: Chr9:111641788 GRCh38: Chr9:108879508	ELP1	S1056fs, S1170fs, S821fs	Familial dysautonomia	Likely pathogenic (Mar 20, 2022)	criteria provided, single submitter
Select item 172526625.	NM_003640.5(ELP1):c.3535delinsTC (p.Gly1180fs) GRCh37: Chr9:111641763 GRCh38: Chr9:108879483	ELP1	G1066fs, G1180fs, G831fs	Familial dysautonomia	Likely pathogenic (Mar 15, 2022)	criteria provided, single submitter
Select item 172519126.	NM_003640.5(ELP1):c.3069_3070del (p.Thr1024fs) GRCh37: Chr9:111653573-111653574 GRCh38: Chr9:108891293-108891294	ELP1	T1024fs, T675fs, T910fs	Familial dysautonomia	Likely pathogenic (Mar 14, 2022)	criteria provided, single submitter
Select item 172503327.	NM_003640.5(ELP1):c.529C>T (p.Gln177Ter) GRCh37: Chr9:111685145 GRCh38: Chr9:108922865	ELP1	Q177, Q63	Familial dysautonomia	Likely pathogenic (Mar 5, 2022)	criteria provided, single submitter
Select item 172501128.	NM_003640.5(ELP1):c.3219_3220del (p.Gln1074fs) GRCh37: Chr9:111651614-111651615 GRCh38: Chr9:108889334-108889335	ELP1	Q1074fs, Q725fs, Q960fs	Familial dysautonomia	Likely pathogenic (Mar 4, 2022)	criteria provided, single submitter
Select item 172500129.	NM_003640.5(ELP1):c.2623_2624del (p.Glu875fs) GRCh37: Chr9:111658888-111658889 GRCh38: Chr9:108896608-108896609	ELP1	E526fs, E761fs, E875fs	Familial dysautonomia	Likely pathogenic (Mar 4, 2022)	criteria provided, single submitter
Select item 172483430.	NM_003640.5(ELP1):c.2677del (p.His893fs) GRCh37: Chr9:111658835 GRCh38: Chr9:108896555	ELP1	H544fs, H779fs, H893fs	Familial dysautonomia	Likely pathogenic (Mar 1, 2022)	criteria provided, single submitter
Select item 172483331.	NM_003640.5(ELP1):c.2795del (p.Gln932fs) GRCh37: Chr9:111656288 GRCh38: Chr9:108894008	ELP1	Q583fs, Q818fs, Q932fs	Familial dysautonomia	Likely pathogenic (Nov 23, 2021)	criteria provided, single submitter
Select item 172472632.	NM_003640.5(ELP1):c.3688_3689del (p.Glu1230fs) GRCh37: Chr9:111640914-111640915 GRCh38: Chr9:108878634-108878635	ELP1	E1116fs, E1230fs, E881fs	Familial dysautonomia	Likely pathogenic (Feb 25, 2022)	criteria provided, single submitter
Select item 172469933.	NM_003640.5(ELP1):c.496A>T (p.Lys166Ter) GRCh37: Chr9:111685178 GRCh38: Chr9:108922898	ELP1	K166, K52	Familial dysautonomia	Likely pathogenic (Feb 25, 2022)	criteria provided, single submitter
Select item 172436234.	NM_003640.5(ELP1):c.1192_1193del (p.Arg398fs) GRCh37: Chr9:111673457-111673458 GRCh38: Chr9:108911177-108911178	ELP1	R284fs, R398fs, R49fs	Familial dysautonomia	Likely pathogenic (Nov 10, 2021)	criteria provided, single submitter
Select item 172435035.	NM_003640.5(ELP1):c.2584C>T (p.Gln862Ter) GRCh37: Chr9:111659236 GRCh38: Chr9:108896956	ELP1	Q513, Q748, Q862*	Familial dysautonomia	Likely pathogenic (Feb 7, 2022)	criteria provided, single submitter
Select item 172432736.	NM_003640.5(ELP1):c.2894_2901del (p.Ile965fs) GRCh37: Chr9:111655323-111655330 GRCh38: Chr9:108893043-108893050	ELP1	I616fs, I851fs, I965fs	Familial dysautonomia	Likely pathogenic (Feb 5, 2022)	criteria provided, single submitter
Select item 172424937.	NM_003640.5(ELP1):c.1619_1620insT (p.Glu540fs) GRCh37: Chr9:111668606-111668607 GRCh38: Chr9:108906326-108906327	ELP1	E191fs, E426fs, E540fs	Familial dysautonomia	Likely pathogenic (Feb 2, 2022)	criteria provided, single submitter
Select item 172424838.	NM_003640.5(ELP1):c.1835T>A (p.Leu612Ter) GRCh37: Chr9:111665138 GRCh38: Chr9:108902858	ELP1	L263, L498, L612*	Familial dysautonomia	Likely pathogenic (Feb 2, 2022)	criteria provided, single submitter
Select item 172421939.	NM_003640.5(ELP1):c.3624del (p.Glu1209fs) GRCh37: Chr9:111640979 GRCh38: Chr9:108878699	ELP1	E1095fs, E1209fs, E860fs	Familial dysautonomia	Likely pathogenic (Feb 2, 2022)	criteria provided, single submitter
Select item 172417640.	NM_003640.5(ELP1):c.1419_1431del (p.Phe473fs) GRCh37: Chr9:111670614-111670626 GRCh38: Chr9:108908334-108908346	ELP1	F124fs, F359fs, F473fs	Familial dysautonomia	Likely pathogenic (Jan 30, 2022)	criteria provided, single submitter
Select item 172417341.	NM_003640.5(ELP1):c.984T>A (p.Tyr328Ter) GRCh37: Chr9:111674749 GRCh38: Chr9:108912469	ELP1	Y214, Y328	Familial dysautonomia	Likely pathogenic (Jan 28, 2022)	criteria provided, single submitter
Select item 172416342.	NM_003640.5(ELP1):c.2867_2868del (p.Glu956fs) GRCh37: Chr9:111655356-111655357 GRCh38: Chr9:108893076-108893077	ELP1	E607fs, E842fs, E956fs	Familial dysautonomia	Likely pathogenic (Jan 28, 2022)	criteria provided, single submitter
Select item 172414443.	NM_003640.5(ELP1):c.343_344del (p.Met115fs) GRCh37: Chr9:111689693-111689694 GRCh38: Chr9:108927413-108927414	ELP1	M115fs, M1fs	Familial dysautonomia	Likely pathogenic (Jan 27, 2022)	criteria provided, single submitter
Select item 172408944.	NM_003640.5(ELP1):c.555delinsATGAAGACA (p.His185delinsGlnTer) GRCh37: Chr9:111681627 GRCh38: Chr9:108919347	ELP1		Familial dysautonomia	Likely pathogenic (Jan 25, 2022)	criteria provided, single submitter
Select item 172405045.	NM_003640.5(ELP1):c.3502G>T (p.Glu1168Ter) GRCh37: Chr9:111641796 GRCh38: Chr9:108879516	ELP1	E1054, E1168, E819*	Familial dysautonomia	Likely pathogenic (Jan 24, 2022)	criteria provided, single submitter
Select item 172401446.	NM_003640.5(ELP1):c.882G>A (p.Trp294Ter) GRCh37: Chr9:111678560 GRCh38: Chr9:108916280	ELP1	W180, W294	Inborn genetic diseases, Familial dysautonomia	Pathogenic/Likely pathogenic (Jan 23, 2022)	criteria provided, multiple submitters, no conflicts
Select item 172396447.	NM_003640.5(ELP1):c.2930T>A (p.Leu977Ter) GRCh37: Chr9:111655294 GRCh38: Chr9:108893014	ELP1	L628, L863, L977*	Familial dysautonomia	Likely pathogenic (Jan 17, 2022)	criteria provided, single submitter
Select item 172238848.	NM_003640.5(ELP1):c.740+1G>T GRCh37: Chr9:111681090 GRCh38: Chr9:108918810	ELP1		Familial dysautonomia	Likely pathogenic (Sep 28, 2022)	criteria provided, single submitter
Select item 170518749.	NC_000009.11:g.(111644468_111651611)_(111696613_?)del GRCh37: Chr9:111644468-111696613	ELP1		Familial dysautonomia	Pathogenic (Aug 24, 2022)	criteria provided, single submitter
Select item 165676050.	NM_003640.5(ELP1):c.3855+18C>T GRCh37: Chr9:111640257 GRCh38: Chr9:108877977	ELP1		not provided, Familial dysautonomia, Medulloblastoma	Benign/Likely benign (Sep 17, 2022)	criteria provided, multiple submitters, no conflicts
Select item 163730851.	NM_003640.5(ELP1):c.958+20C>T GRCh37: Chr9:111678464 GRCh38: Chr9:108916184	ELP1		Familial dysautonomia, Medulloblastoma, not provided	Likely benign (Jan 10, 2022)	criteria provided, multiple submitters, no conflicts
Select item 162501852.	NM_003640.5(ELP1):c.1909-17C>G GRCh37: Chr9:111663827 GRCh38: Chr9:108901547	ELP1		not provided, Medulloblastoma, Familial dysautonomia	Likely benign (Oct 18, 2022)	criteria provided, multiple submitters, no conflicts
Select item 162242353.	NM_003640.5(ELP1):c.958+19_958+20delinsAT GRCh37: Chr9:111678464-111678465 GRCh38: Chr9:108916184-108916185	ELP1		not provided, Familial dysautonomia, Medulloblastoma	Likely benign (Jan 10, 2022)	criteria provided, multiple submitters, no conflicts
Select item 160465954.	NM_003640.5(ELP1):c.3205T>C (p.Leu1069=) GRCh37: Chr9:111651629 GRCh38: Chr9:108889349	ELP1		not provided, Medulloblastoma, Familial dysautonomia	Likely benign (Apr 26, 2022)	criteria provided, multiple submitters, no conflicts
Select item 156219055.	NM_003640.5(ELP1):c.3932-18T>G GRCh37: Chr9:111631480 GRCh38: Chr9:108869200	ELP1		Medulloblastoma, Familial dysautonomia, not provided	Likely benign (Oct 24, 2022)	criteria provided, multiple submitters, no conflicts
Select item 154837056.	NM_003640.5(ELP1):c.3855+19G>A GRCh37: Chr9:111640256 GRCh38: Chr9:108877976	ELP1		not provided, Medulloblastoma, Familial dysautonomia	Likely benign (Jul 5, 2022)	criteria provided, multiple submitters, no conflicts
Select item 150074357.	NM_003640.5(ELP1):c.484G>C (p.Gly162Arg) GRCh37: Chr9:111685190 GRCh38: Chr9:108922910	ELP1	G48R, G162R	not provided, Familial dysautonomia, Medulloblastoma, Inborn genetic diseases	Uncertain significance (Sep 6, 2022)	criteria provided, multiple submitters, no conflicts
Select item 149261058.	NM_003640.5(ELP1):c.116A>G (p.His39Arg) GRCh37: Chr9:111693311 GRCh38: Chr9:108931031	ELP1	H39R	Inborn genetic diseases, Familial dysautonomia, Medulloblastoma, not provided	Uncertain significance (Sep 17, 2021)	criteria provided, multiple submitters, no conflicts
Select item 148267059.	NM_003640.5(ELP1):c.2932T>C (p.Tyr978His) GRCh37: Chr9:111655292 GRCh38: Chr9:108893012	ELP1	Y864H, Y629H, Y978H	not provided, Familial dysautonomia, Medulloblastoma	Uncertain significance (Mar 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 147531160.	NM_003640.5(ELP1):c.3026T>C (p.Phe1009Ser) GRCh37: Chr9:111653617 GRCh38: Chr9:108891337	ELP1	F895S, F1009S, F660S	not provided, Familial dysautonomia, Medulloblastoma	Uncertain significance (Aug 9, 2022)	criteria provided, multiple submitters, no conflicts
Select item 147250861.	NM_003640.5(ELP1):c.1166C>T (p.Ser389Phe) GRCh37: Chr9:111674567 GRCh38: Chr9:108912287	ELP1	S40F, S389F, S275F	Inborn genetic diseases, not provided, Familial dysautonomia, Medulloblastoma	Uncertain significance (Jan 14, 2022)	criteria provided, multiple submitters, no conflicts
Select item 146734762.	NM_003640.5(ELP1):c.3188T>C (p.Ile1063Thr) GRCh37: Chr9:111651646 GRCh38: Chr9:108889366	ELP1	I1063T, I949T, I714T	not provided, Medulloblastoma, Familial dysautonomia	Uncertain significance (Mar 21, 2022)	criteria provided, multiple submitters, no conflicts
Select item 146016463.	NM_003640.5(ELP1):c.1361-1G>T GRCh37: Chr9:111670685 GRCh38: Chr9:108908405	ELP1		not provided, Medulloblastoma, Familial dysautonomia	Pathogenic/Likely pathogenic (Dec 2, 2021)	criteria provided, multiple submitters, no conflicts
Select item 145413264.	NM_003640.5(ELP1):c.3595A>T (p.Lys1199Ter) GRCh37: Chr9:111641008 GRCh38: Chr9:108878728	ELP1	K1085, K1199, K850*	not provided, Medulloblastoma, Familial dysautonomia	Pathogenic/Likely pathogenic (Sep 17, 2021)	criteria provided, multiple submitters, no conflicts
Select item 145400565.	NM_003640.5(ELP1):c.2283+11_2283+15del GRCh37: Chr9:111660936-111660940 GRCh38: Chr9:108898656-108898660	ELP1		Medulloblastoma, Familial dysautonomia, not provided	Likely benign (Apr 14, 2022)	criteria provided, multiple submitters, no conflicts
Select item 145189366.	NM_003640.5(ELP1):c.2322_2325del (p.Asp775fs) GRCh37: Chr9:111660820-111660823 GRCh38: Chr9:108898540-108898543	ELP1	D426fs, D661fs, D775fs	not provided, Medulloblastoma, Familial dysautonomia, Inborn genetic diseases	Pathogenic/Likely pathogenic (Aug 20, 2022)	criteria provided, multiple submitters, no conflicts
Select item 143828467.	NM_003640.5(ELP1):c.2295A>T (p.Gly765=) GRCh37: Chr9:111660850 GRCh38: Chr9:108898570	ELP1		Medulloblastoma, Familial dysautonomia, not provided	Conflicting interpretations of pathogenicity (Aug 23, 2022)	criteria provided, conflicting interpretations
Select item 143099068.	NM_003640.5(ELP1):c.3343G>T (p.Glu1115Ter) GRCh37: Chr9:111643988 GRCh38: Chr9:108881708	ELP1	E1115, E766, E1001*	Familial dysautonomia, not provided	Pathogenic/Likely pathogenic (Jun 30, 2022)	criteria provided, multiple submitters, no conflicts
Select item 142520369.	NM_003640.5(ELP1):c.1990T>C (p.Cys664Arg) GRCh37: Chr9:111663729 GRCh38: Chr9:108901449	ELP1	C550R, C315R, C664R	Medulloblastoma, Familial dysautonomia, not provided	Uncertain significance (Mar 18, 2022)	criteria provided, multiple submitters, no conflicts
Select item 140325070.	NM_003640.5(ELP1):c.3542A>G (p.Lys1181Arg) GRCh37: Chr9:111641756 GRCh38: Chr9:108879476	ELP1	K832R, K1067R, K1181R	Inborn genetic diseases, not provided, not specified, Medulloblastoma, Familial dysautonomia	Conflicting interpretations of pathogenicity (Jul 27, 2023)	criteria provided, conflicting interpretations
Select item 138065971.	NM_003640.5(ELP1):c.983A>C (p.Tyr328Ser) GRCh37: Chr9:111674750 GRCh38: Chr9:108912470	ELP1	Y328S, Y214S	not provided, Medulloblastoma, Familial dysautonomia	Uncertain significance (Apr 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 135378772.	NM_003640.5(ELP1):c.3382_3385del (p.Thr1128fs) GRCh37: Chr9:111642407-111642410 GRCh38: Chr9:108880127-108880130	ELP1	T779fs, T1128fs, T1014fs	not provided, Medulloblastoma, Familial dysautonomia	Pathogenic/Likely pathogenic (May 12, 2022)	criteria provided, multiple submitters, no conflicts
Select item 133095973.	NM_003640.5(ELP1):c.3322A>G (p.Asn1108Asp) GRCh37: Chr9:111644009 GRCh38: Chr9:108881729	ELP1	N1108D, N759D, N994D	Familial dysautonomia	Uncertain significance (Jan 13, 2021)	criteria provided, single submitter
Select item 132028874.	NM_003640.5(ELP1):c.85G>A (p.Glu29Lys) GRCh37: Chr9:111693342 GRCh38: Chr9:108931062	ELP1	E29K	Medulloblastoma, Medulloblastoma, Familial dysautonomia	Uncertain significance (Feb 2, 2022)	criteria provided, multiple submitters, no conflicts
Select item 132028175.	NM_003640.5(ELP1):c.3889A>G (p.Met1297Val) GRCh37: Chr9:111637217 GRCh38: Chr9:108874937	ELP1	M1183V, M1297V, M948V	Medulloblastoma, Familial dysautonomia, not provided, Medulloblastoma	Uncertain significance (Feb 9, 2022)	criteria provided, multiple submitters, no conflicts
Select item 121042576.	NM_003640.5(ELP1):c.3956del (p.Lys1319fs) GRCh37: Chr9:111631438 GRCh38: Chr9:108869158	ELP1	K1205fs, K1319fs, K970fs	Familial dysautonomia	Likely pathogenic (Jul 22, 2021)	criteria provided, single submitter
Select item 120499377.	NM_003640.5(ELP1):c.410C>A (p.Thr137Lys) GRCh37: Chr9:111688859 GRCh38: Chr9:108926579	ELP1	T137K, T23K	Inborn genetic diseases, not provided, Familial dysautonomia, Medulloblastoma	Uncertain significance (Nov 11, 2021)	criteria provided, multiple submitters, no conflicts
Select item 120094678.	NM_003640.5(ELP1):c.1644-13T>C GRCh37: Chr9:111665962 GRCh38: Chr9:108903682	ELP1		Medulloblastoma, Familial dysautonomia, not provided	Likely benign (Oct 8, 2022)	criteria provided, multiple submitters, no conflicts
Select item 119931779.	NM_003640.5(ELP1):c.755T>G (p.Leu252Trp) GRCh37: Chr9:111679936 GRCh38: Chr9:108917656	ELP1	L138W, L252W	Familial dysautonomia	Uncertain significance (Jul 14, 2021)	criteria provided, single submitter
Select item 119931680.	NM_003640.5(ELP1):c.1831G>A (p.Glu611Lys) GRCh37: Chr9:111665142 GRCh38: Chr9:108902862	ELP1	E262K, E497K, E611K	not provided, Familial dysautonomia	Uncertain significance (Jan 26, 2022)	criteria provided, multiple submitters, no conflicts
Select item 119193581.	NM_003640.5(ELP1):c.3593G>C (p.Arg1198Pro) GRCh37: Chr9:111641010 GRCh38: Chr9:108878730	ELP1	R1084P, R1198P, R849P	not provided	Uncertain significance (Jan 28, 2020)	criteria provided, single submitter
Select item 117704982.	NM_003640.5(ELP1):c.1750+124C>T GRCh37: Chr9:111665719 GRCh38: Chr9:108903439	ELP1		not provided, Familial dysautonomia	Benign (Jul 1, 2021)	criteria provided, multiple submitters, no conflicts
Select item 115978183.	NM_003640.5(ELP1):c.2908T>C (p.Leu970=) GRCh37: Chr9:111655316 GRCh38: Chr9:108893036	ELP1		not provided, Familial dysautonomia, Medulloblastoma	Likely benign (Sep 14, 2022)	criteria provided, multiple submitters, no conflicts
Select item 115218684.	NM_003640.5(ELP1):c.1830C>T (p.Thr610=) GRCh37: Chr9:111665143 GRCh38: Chr9:108902863	ELP1		not provided	Likely benign (Sep 18, 2022)	criteria provided, single submitter
Select item 114917485.	NM_003640.5(ELP1):c.2847C>T (p.His949=) GRCh37: Chr9:111656236 GRCh38: Chr9:108893956	ELP1		not provided, Medulloblastoma, Familial dysautonomia	Likely benign (Mar 18, 2022)	criteria provided, multiple submitters, no conflicts
Select item 114716486.	NM_003640.5(ELP1):c.2916C>T (p.Asn972=) GRCh37: Chr9:111655308 GRCh38: Chr9:108893028	ELP1		not provided	Likely benign (Sep 11, 2022)	criteria provided, single submitter
Select item 114561987.	NM_003640.5(ELP1):c.3975G>A (p.Gln1325=) GRCh37: Chr9:111631419 GRCh38: Chr9:108869139	ELP1		not provided	Likely benign (Nov 24, 2020)	criteria provided, single submitter
Select item 114224288.	NM_003640.5(ELP1):c.1834T>C (p.Leu612=) GRCh37: Chr9:111665139 GRCh38: Chr9:108902859	ELP1		not provided, Inborn genetic diseases	Likely benign (Oct 14, 2021)	criteria provided, multiple submitters, no conflicts
Select item 113153889.	NM_003640.5(ELP1):c.1284A>T (p.Thr428=) GRCh37: Chr9:111673366 GRCh38: Chr9:108911086	ELP1		not provided	Likely benign (Sep 12, 2022)	criteria provided, single submitter
Select item 112822390.	NM_003640.5(ELP1):c.1190-4G>A GRCh37: Chr9:111673464 GRCh38: Chr9:108911184	ELP1		Medulloblastoma, Familial dysautonomia, not provided	Likely benign (Jul 31, 2022)	criteria provided, multiple submitters, no conflicts
Select item 111081291.	NM_003640.5(ELP1):c.2097T>C (p.Thr699=) GRCh37: Chr9:111662573 GRCh38: Chr9:108900293	ELP1		not provided	Likely benign (Nov 4, 2022)	criteria provided, single submitter
Select item 111048492.	NM_003640.5(ELP1):c.1536C>T (p.Asp512=) GRCh37: Chr9:111668690 GRCh38: Chr9:108906410	ELP1		Medulloblastoma, Familial dysautonomia, not provided	Likely benign (Sep 7, 2022)	criteria provided, multiple submitters, no conflicts
Select item 110787793.	NM_003640.5(ELP1):c.3045C>T (p.His1015=) GRCh37: Chr9:111653598 GRCh38: Chr9:108891318	ELP1		not provided	Likely benign (Sep 28, 2022)	criteria provided, single submitter
Select item 109906394.	NM_003640.5(ELP1):c.3819T>C (p.Ile1273=) GRCh37: Chr9:111640311 GRCh38: Chr9:108878031	ELP1		not provided, Medulloblastoma, Familial dysautonomia	Likely benign (Dec 28, 2021)	criteria provided, multiple submitters, no conflicts
Select item 109067195.	NM_003640.5(ELP1):c.2031G>C (p.Leu677=) GRCh37: Chr9:111662639 GRCh38: Chr9:108900359	ELP1		not provided	Likely benign (Jun 2, 2022)	criteria provided, single submitter
Select item 109043796.	NM_003640.5(ELP1):c.78C>T (p.Leu26=) GRCh37: Chr9:111693349 GRCh38: Chr9:108931069	ELP1		not provided	Likely benign (Apr 8, 2022)	criteria provided, single submitter
Select item 108484597.	NM_003640.5(ELP1):c.3711C>T (p.Tyr1237=) GRCh37: Chr9:111640419 GRCh38: Chr9:108878139	ELP1		not provided	Likely benign (Mar 8, 2019)	criteria provided, single submitter
Select item 108214798.	NM_003640.5(ELP1):c.3219C>A (p.Ala1073=) GRCh37: Chr9:111651615 GRCh38: Chr9:108889335	ELP1		not provided	Likely benign (Aug 10, 2022)	criteria provided, single submitter
Select item 106953899.	NM_003640.5(ELP1):c.572G>A (p.Trp191Ter) GRCh37: Chr9:111681610 GRCh38: Chr9:108919330	ELP1	W191, W77	not provided, Familial dysautonomia	Pathogenic/Likely pathogenic (Jul 23, 2022)	criteria provided, multiple submitters, no conflicts
Select item 1068271100.	NM_003640.5(ELP1):c.3855+2T>G GRCh37: Chr9:111640273 GRCh38: Chr9:108877993	ELP1		not provided	Likely pathogenic (Apr 18, 2020)	criteria provided, single submitter

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