ClinVar for MedGen (Select 462490) - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 24358121.	NM_016955.4(SEPSECS):c.1067C>T (p.Ser356Leu) GRCh37: Chr4:25128939 GRCh38: Chr4:25127317	SEPSECS	S356L, S441L	Pontocerebellar hypoplasia type 2D	Uncertain significance (Oct 12, 2021)	criteria provided, single submitter
Select item 18785962.	NM_016955.4(SEPSECS):c.1178C>T (p.Ser393Leu) GRCh37: Chr4:25127349 GRCh38: Chr4:25125727	SEPSECS	S393L, S478L	Pontocerebellar hypoplasia type 2D, not provided	Uncertain significance (Oct 13, 2022)	criteria provided, multiple submitters, no conflicts
Select item 13560913.	NM_016955.4(SEPSECS):c.1023_1026del (p.Glu343fs) GRCh37: Chr4:25146396-25146399 GRCh38: Chr4:25144774-25144777	SEPSECS	E343fs	Pontocerebellar hypoplasia type 2D, not provided	Pathogenic/Likely pathogenic (Jun 29, 2022)	criteria provided, multiple submitters, no conflicts
Select item 13295024.	NM_016955.4(SEPSECS):c.467G>A (p.Arg156Gln) GRCh37: Chr4:25157739 GRCh38: Chr4:25156117	SEPSECS	R156Q	Pontocerebellar hypoplasia type 2D	Uncertain significance (Mar 24, 2022)	criteria provided, multiple submitters, no conflicts
Select item 12983305.	NM_016955.4(SEPSECS):c.1A>T (p.Met1Leu) GRCh37: Chr4:25161991 GRCh38: Chr4:25160369	SEPSECS	M1L	Pontocerebellar hypoplasia type 2D	Pathogenic (Oct 1, 2021)	criteria provided, single submitter
Select item 12961576.	NM_016955.4(SEPSECS):c.115-4del GRCh37: Chr4:25160733 GRCh38: Chr4:25159111	SEPSECS		not provided	Benign (Aug 10, 2019)	criteria provided, single submitter
Select item 12237577.	NM_016955.4(SEPSECS):c.1A>G (p.Met1Val) GRCh37: Chr4:25161991 GRCh38: Chr4:25160369	SEPSECS	M1V	not provided, Pontocerebellar hypoplasia type 2D	Pathogenic/Likely pathogenic (Apr 20, 2023)	criteria provided, multiple submitters, no conflicts
Select item 12098358.	NM_016955.4(SEPSECS):c.823A>G (p.Ile275Val) GRCh37: Chr4:25146737 GRCh38: Chr4:25145115	SEPSECS	I275V	Pontocerebellar hypoplasia type 2D	Uncertain significance (Jul 22, 2021)	criteria provided, single submitter
Select item 11416879.	NM_016955.4(SEPSECS):c.84T>C (p.His28=) GRCh37: Chr4:25161908 GRCh38: Chr4:25160286	LOC129992330, SEPSECS		not provided	Likely benign (Aug 20, 2022)	criteria provided, single submitter
Select item 107542610.	NM_016955.4(SEPSECS):c.811C>T (p.Arg271Ter) GRCh37: Chr4:25146749 GRCh38: Chr4:25145127	SEPSECS	R271*	Inborn genetic diseases, not provided, Pontocerebellar hypoplasia type 2D	Pathogenic/Likely pathogenic (Sep 19, 2022)	criteria provided, multiple submitters, no conflicts
Select item 107292311.	NM_016955.4(SEPSECS):c.1148dup (p.His383fs) GRCh37: Chr4:25127378-25127379 GRCh38: Chr4:25125756-25125757	SEPSECS	H383fs	not provided, Pontocerebellar hypoplasia type 2D	Pathogenic/Likely pathogenic (May 9, 2022)	criteria provided, multiple submitters, no conflicts
Select item 106647112.	NM_016955.4(SEPSECS):c.389-1G>A GRCh37: Chr4:25157818 GRCh38: Chr4:25156196	SEPSECS		not provided, Pontocerebellar hypoplasia type 2D	Likely pathogenic (May 9, 2022)	criteria provided, multiple submitters, no conflicts
Select item 102803813.	NM_016955.4(SEPSECS):c.256C>T (p.Arg86Cys) GRCh37: Chr4:25160588 GRCh38: Chr4:25158966	SEPSECS	R86C	Pontocerebellar hypoplasia type 2D	Uncertain significance (Jul 8, 2020)	criteria provided, single submitter
Select item 99031914.	NM_016955.4(SEPSECS):c.264T>A (p.His88Gln) GRCh37: Chr4:25160580 GRCh38: Chr4:25158958	SEPSECS	H88Q	Pontocerebellar hypoplasia type 2D	Uncertain significance (Aug 13, 2020)	no assertion criteria provided
Select item 99031815.	NM_016955.4(SEPSECS):c.499T>C (p.Trp167Arg) GRCh37: Chr4:25157707 GRCh38: Chr4:25156085	SEPSECS	W167R	Pontocerebellar hypoplasia type 2D	Uncertain significance (Aug 14, 2020)	no assertion criteria provided
Select item 99031716.	NM_016955.4(SEPSECS):c.804+4A>T GRCh37: Chr4:25153578 GRCh38: Chr4:25151956	SEPSECS		Pontocerebellar hypoplasia type 2D	Uncertain significance (Apr 21, 2020)	no assertion criteria provided
Select item 99031617.	NM_016955.4(SEPSECS):c.960A>G (p.Leu320=) GRCh37: Chr4:25146462 GRCh38: Chr4:25144840	SEPSECS		not provided	Likely benign (Sep 14, 2022)	criteria provided, single submitter
Select item 99031518.	NM_016955.4(SEPSECS):c.1120G>A (p.Ala374Thr) GRCh37: Chr4:25128886 GRCh38: Chr4:25127264	SEPSECS	A374T	Pontocerebellar hypoplasia type 2D	Uncertain significance (Apr 21, 2020)	no assertion criteria provided
Select item 98988419.	NM_016955.4(SEPSECS):c.1222C>T (p.Leu408Phe) GRCh37: Chr4:25125837 GRCh38: Chr4:25124215	SEPSECS	L408F	Pontocerebellar hypoplasia type 2D	Uncertain significance (Jan 11, 2022)	criteria provided, single submitter
Select item 98988320.	NM_016955.4(SEPSECS):c.1250A>G (p.Tyr417Cys) GRCh37: Chr4:25125809 GRCh38: Chr4:25124187	SEPSECS	Y417C	not provided	Uncertain significance (Jun 9, 2022)	criteria provided, single submitter
Select item 98988221.	NM_016955.4(SEPSECS):c.1320C>T (p.Ile440=) GRCh37: Chr4:25125739 GRCh38: Chr4:25124117	SEPSECS		not provided	Likely benign (Aug 5, 2022)	criteria provided, single submitter
Select item 98988122.	NM_016955.4(SEPSECS):c.1351A>G (p.Ile451Val) GRCh37: Chr4:25125708 GRCh38: Chr4:25124086	SEPSECS	I451V	Pontocerebellar hypoplasia type 2D	Uncertain significance (Apr 21, 2020)	no assertion criteria provided
Select item 98988023.	NM_016955.4(SEPSECS):c.1390G>T (p.Glu464Ter) GRCh37: Chr4:25125669 GRCh38: Chr4:25124047	SEPSECS	E464*	not provided, Pontocerebellar hypoplasia type 2D	Uncertain significance (Jun 13, 2022)	criteria provided, multiple submitters, no conflicts
Select item 98987924.	NM_016955.4(SEPSECS):c.1453G>A (p.Ala485Thr) GRCh37: Chr4:25125606 GRCh38: Chr4:25123984	SEPSECS	A485T	Pontocerebellar hypoplasia type 2D	Uncertain significance (Apr 21, 2020)	no assertion criteria provided
Select item 98987825.	NM_016955.4(SEPSECS):c.1461A>C (p.Lys487Asn) GRCh37: Chr4:25125598 GRCh38: Chr4:25123976	SEPSECS	K487N	Pontocerebellar hypoplasia type 2D	Uncertain significance (Apr 20, 2020)	no assertion criteria provided
Select item 98987726.	NM_016955.4(SEPSECS):c.*6G>A GRCh37: Chr4:25125547 GRCh38: Chr4:25123925	SEPSECS		Pontocerebellar hypoplasia type 2D	Uncertain significance (Apr 20, 2020)	no assertion criteria provided
Select item 98462427.	NM_016955.4(SEPSECS):c.114+3A>G GRCh37: Chr4:25161875 GRCh38: Chr4:25160253	LOC129992330, SEPSECS		Pontoneocerebellar hypoplasia, not provided, Pontocerebellar hypoplasia type 2D	Conflicting interpretations of pathogenicity (Jul 25, 2023)	criteria provided, conflicting interpretations
Select item 98326628.	NM_016955.4(SEPSECS):c.812G>T (p.Arg271Leu) GRCh37: Chr4:25146748 GRCh38: Chr4:25145126	SEPSECS	R271L	Pontocerebellar hypoplasia type 2D	Uncertain significance (Sep 30, 2020)	criteria provided, single submitter
Select item 91783029.	NM_016955.4(SEPSECS):c.95T>G (p.Ile32Arg) GRCh37: Chr4:25161897 GRCh38: Chr4:25160275	SEPSECS, LOC129992330	I32R	Pontocerebellar hypoplasia type 2D	Uncertain significance	no assertion criteria provided
Select item 90275330.	NM_016955.4(SEPSECS):c.*223G>A GRCh37: Chr4:25125330 GRCh38: Chr4:25123708	SEPSECS		Pontocerebellar hypoplasia type 2D	Benign (Apr 27, 2017)	criteria provided, single submitter
Select item 90275231.	NM_016955.4(SEPSECS):c.*327G>A GRCh37: Chr4:25125226 GRCh38: Chr4:25123604	SEPSECS		Pontocerebellar hypoplasia type 2D	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 90275132.	NM_016955.4(SEPSECS):c.*328A>T GRCh37: Chr4:25125225 GRCh38: Chr4:25123603	SEPSECS		Pontocerebellar hypoplasia type 2D	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 90275033.	NM_016955.4(SEPSECS):c.*352A>G GRCh37: Chr4:25125201 GRCh38: Chr4:25123579	SEPSECS		Pontocerebellar hypoplasia type 2D	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 90268034.	NM_016955.4(SEPSECS):c.*2480T>G GRCh37: Chr4:25123073 GRCh38: Chr4:25121451	SEPSECS		Pontocerebellar hypoplasia type 2D	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 90267935.	NM_016955.4(SEPSECS):c.*2618C>A GRCh37: Chr4:25122935 GRCh38: Chr4:25121313	SEPSECS		Pontocerebellar hypoplasia type 2D	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 90190336.	NM_016955.4(SEPSECS):c.389-10T>C GRCh37: Chr4:25157827 GRCh38: Chr4:25156205	SEPSECS		Pontocerebellar hypoplasia type 2D, not provided	Conflicting interpretations of pathogenicity (Jun 22, 2022)	criteria provided, conflicting interpretations
Select item 90190237.	NM_016955.4(SEPSECS):c.389-8A>C GRCh37: Chr4:25157825 GRCh38: Chr4:25156203	SEPSECS		Pontocerebellar hypoplasia type 2D, not provided	Conflicting interpretations of pathogenicity (Oct 19, 2022)	criteria provided, conflicting interpretations
Select item 90177338.	NM_016955.4(SEPSECS):c.*2871T>C GRCh37: Chr4:25122682 GRCh38: Chr4:25121060	SEPSECS		Pontocerebellar hypoplasia type 2D	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 90177239.	NM_016955.4(SEPSECS):c.*2916A>G GRCh37: Chr4:25122637 GRCh38: Chr4:25121015	SEPSECS		Pontocerebellar hypoplasia type 2D	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 90177140.	NM_016955.4(SEPSECS):c.*2921A>G GRCh37: Chr4:25122632 GRCh38: Chr4:25121010	SEPSECS		Pontocerebellar hypoplasia type 2D	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 90177041.	NM_016955.4(SEPSECS):c.*2966A>G GRCh37: Chr4:25122587 GRCh38: Chr4:25120965	SEPSECS		Pontocerebellar hypoplasia type 2D	Benign (Apr 27, 2017)	criteria provided, single submitter
Select item 90135342.	NM_016955.4(SEPSECS):c.634C>G (p.Leu212Val) GRCh37: Chr4:25156687 GRCh38: Chr4:25155065	SEPSECS	L212V	not provided, Pontocerebellar hypoplasia type 2D	Uncertain significance (Aug 21, 2022)	criteria provided, multiple submitters, no conflicts
Select item 90135243.	NM_016955.4(SEPSECS):c.1120+8C>A GRCh37: Chr4:25128878 GRCh38: Chr4:25127256	SEPSECS		not provided, Pontocerebellar hypoplasia type 2D	Conflicting interpretations of pathogenicity (Feb 16, 2021)	criteria provided, conflicting interpretations
Select item 90135144.	NM_016955.4(SEPSECS):c.1181T>C (p.Met394Thr) GRCh37: Chr4:25127346 GRCh38: Chr4:25125724	SEPSECS	M394T	Pontocerebellar hypoplasia type 2D	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 90129045.	NM_016955.4(SEPSECS):c.*1008T>C GRCh37: Chr4:25124545 GRCh38: Chr4:25122923	SEPSECS		Pontocerebellar hypoplasia type 2D	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 90128946.	NM_016955.4(SEPSECS):c.*1031G>A GRCh37: Chr4:25124522 GRCh38: Chr4:25122900	SEPSECS		Pontocerebellar hypoplasia type 2D	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 90128847.	NM_016955.4(SEPSECS):c.*1122C>T GRCh37: Chr4:25124431 GRCh38: Chr4:25122809	SEPSECS		Pontocerebellar hypoplasia type 2D	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 90128748.	NM_016955.4(SEPSECS):c.*1591G>A GRCh37: Chr4:25123962 GRCh38: Chr4:25122340	SEPSECS		Pontocerebellar hypoplasia type 2D	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 90122149.	NM_016955.4(SEPSECS):c.*3870A>T GRCh37: Chr4:25121683 GRCh38: Chr4:25120061	SEPSECS		Pontocerebellar hypoplasia type 2D	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 90019050.	NM_016955.4(SEPSECS):c.1257C>G (p.Phe419Leu) GRCh37: Chr4:25125802 GRCh38: Chr4:25124180	SEPSECS	F419L	Pontocerebellar hypoplasia type 2D	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 90018951.	NM_016955.4(SEPSECS):c.1326G>A (p.Met442Ile) GRCh37: Chr4:25125733 GRCh38: Chr4:25124111	SEPSECS	M442I	Pontocerebellar hypoplasia type 2D	Uncertain significance (Apr 27, 2017)	criteria provided, single submitter
Select item 90018852.	NM_016955.4(SEPSECS):c.1505G>A (p.Ter502=) GRCh37: Chr4:25125554 GRCh38: Chr4:25123932	SEPSECS		Pontocerebellar hypoplasia type 2D	Uncertain significance (Mar 2, 2018)	criteria provided, single submitter
Select item 90012953.	NM_016955.4(SEPSECS):c.*1637G>A GRCh37: Chr4:25123916 GRCh38: Chr4:25122294	SEPSECS		Pontocerebellar hypoplasia type 2D	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 90012854.	NM_016955.4(SEPSECS):c.*1648G>A GRCh37: Chr4:25123905 GRCh38: Chr4:25122283	SEPSECS		Pontocerebellar hypoplasia type 2D	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 90012755.	NM_016955.4(SEPSECS):c.*1659C>A GRCh37: Chr4:25123894 GRCh38: Chr4:25122272	SEPSECS		Pontocerebellar hypoplasia type 2D	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 81063856.	NM_016955.4(SEPSECS):c.181A>G (p.Met61Val) GRCh37: Chr4:25160663 GRCh38: Chr4:25159041	SEPSECS	M61V	Pontocerebellar hypoplasia type 2D	Uncertain significance (Aug 1, 2019)	no assertion criteria provided
Select item 80053057.	NM_016955.4(SEPSECS):c.1000T>C (p.Tyr334His) GRCh37: Chr4:25146422 GRCh38: Chr4:25144800	SEPSECS	Y334H	Pontocerebellar hypoplasia type 2D	Uncertain significance (Nov 15, 2018)	criteria provided, single submitter
Select item 79419658.	NM_016955.4(SEPSECS):c.1212-10C>G GRCh37: Chr4:25125857 GRCh38: Chr4:25124235	SEPSECS		not provided	Likely benign (Sep 29, 2022)	criteria provided, single submitter
Select item 76188459.	NM_016955.4(SEPSECS):c.45G>A (p.Pro15=) GRCh37: Chr4:25161947 GRCh38: Chr4:25160325	SEPSECS		not provided, Pontocerebellar hypoplasia type 2D	Benign/Likely benign (Nov 3, 2022)	criteria provided, multiple submitters, no conflicts
Select item 75086860.	NM_016955.4(SEPSECS):c.1027-9T>C GRCh37: Chr4:25128988 GRCh38: Chr4:25127366	SEPSECS		not provided	Likely benign (Oct 29, 2022)	criteria provided, single submitter
Select item 73470161.	NM_016955.4(SEPSECS):c.1291T>G (p.Cys431Gly) GRCh37: Chr4:25125768 GRCh38: Chr4:25124146	SEPSECS	C431G	not provided	Likely benign (Oct 21, 2022)	criteria provided, single submitter
Select item 69573062.	NM_016955.4(SEPSECS):c.388+10G>A GRCh37: Chr4:25158468 GRCh38: Chr4:25156846	SEPSECS		not provided	Likely benign (Oct 13, 2022)	criteria provided, single submitter
Select item 69567463.	NM_016955.4(SEPSECS):c.1023A>G (p.Arg341=) GRCh37: Chr4:25146399 GRCh38: Chr4:25144777	SEPSECS		not provided	Benign/Likely benign (Sep 28, 2022)	criteria provided, multiple submitters, no conflicts
Select item 69563564.	NM_016955.4(SEPSECS):c.919A>G (p.Ser307Gly) GRCh37: Chr4:25146641 GRCh38: Chr4:25145019	SEPSECS	S307G	Inborn genetic diseases, not provided	Likely benign (Dec 2, 2022)	criteria provided, multiple submitters, no conflicts
Select item 69540965.	NM_016955.4(SEPSECS):c.1027-7G>A GRCh37: Chr4:25128986 GRCh38: Chr4:25127364	SEPSECS		not provided, Pontocerebellar hypoplasia type 2D	Conflicting interpretations of pathogenicity (Oct 12, 2022)	criteria provided, conflicting interpretations
Select item 69529466.	NM_016955.4(SEPSECS):c.1128A>G (p.Thr376=) GRCh37: Chr4:25127399 GRCh38: Chr4:25125777	SEPSECS		not provided, Pontocerebellar hypoplasia type 2D	Benign/Likely benign (Nov 3, 2022)	criteria provided, multiple submitters, no conflicts
Select item 64539367.	NM_016955.4(SEPSECS):c.289C>T (p.Arg97Ter) GRCh37: Chr4:25158577 GRCh38: Chr4:25156955	SEPSECS	R97*	Pontocerebellar hypoplasia type 2D, not provided	Pathogenic/Likely pathogenic (Dec 14, 2021)	criteria provided, multiple submitters, no conflicts
Select item 63852268.	NM_016955.4(SEPSECS):c.1274A>G (p.His425Arg) GRCh37: Chr4:25125785 GRCh38: Chr4:25124163	SEPSECS	H425R	Pontocerebellar hypoplasia type 2D	Uncertain significance (Apr 27, 2019)	criteria provided, single submitter
Select item 63852169.	NM_006493.4(CLN5):c.208T>C (p.Cys70Arg) GRCh37: Chr13:77569232 GRCh38: Chr13:76995097	CLN5	C70R	Pontocerebellar hypoplasia type 2D, Neuronal ceroid lipofuscinosis 5	Conflicting interpretations of pathogenicity (May 27, 2023)	criteria provided, conflicting interpretations
Select item 63243870.	NM_016955.4(SEPSECS):c.1393C>T (p.Arg465Ter) GRCh37: Chr4:25125666 GRCh38: Chr4:25124044	SEPSECS	R465*	not provided, Pontocerebellar hypoplasia type 2D, Spastic ataxia, not specified	Conflicting interpretations of pathogenicity (Sep 2, 2022)	criteria provided, conflicting interpretations
Select item 62046471.	NM_016955.4(SEPSECS):c.766G>T (p.Gly256Ter) GRCh37: Chr4:25153620 GRCh38: Chr4:25151998	SEPSECS	G256*	not provided	Pathogenic/Likely pathogenic (May 8, 2022)	criteria provided, multiple submitters, no conflicts
Select item 54621872.	NM_016955.4(SEPSECS):c.389G>A (p.Gly130Asp) GRCh37: Chr4:25157817 GRCh38: Chr4:25156195	SEPSECS	G130D	not provided	Uncertain significance (May 9, 2018)	criteria provided, single submitter
Select item 52280673.	NM_016955.4(SEPSECS):c.846G>A (p.Leu282=) GRCh37: Chr4:25146714 GRCh38: Chr4:25145092	SEPSECS		not provided, Pontocerebellar hypoplasia type 2D, not specified	Conflicting interpretations of pathogenicity (Oct 23, 2022)	criteria provided, conflicting interpretations
Select item 45151174.	NM_016955.4(SEPSECS):c.491A>G (p.Tyr164Cys) GRCh37: Chr4:25157715 GRCh38: Chr4:25156093	SEPSECS	Y164C	not provided	Uncertain significance (Aug 21, 2017)	criteria provided, single submitter
Select item 43239375.	NM_016955.4(SEPSECS):c.584G>A (p.Gly195Asp) GRCh37: Chr4:25156737 GRCh38: Chr4:25155115	SEPSECS	G195D	not provided	Uncertain significance (Dec 3, 2021)	criteria provided, multiple submitters, no conflicts
Select item 43237376.	NM_016955.4(SEPSECS):c.548-1G>A GRCh37: Chr4:25156774 GRCh38: Chr4:25155152	SEPSECS		not provided	Conflicting interpretations of pathogenicity (Jun 9, 2022)	criteria provided, conflicting interpretations
Select item 42399977.	NM_016955.4(SEPSECS):c.1022G>A (p.Arg341Lys) GRCh37: Chr4:25146400 GRCh38: Chr4:25144778	SEPSECS	R341K	not provided	Uncertain significance (Mar 8, 2017)	criteria provided, single submitter
Select item 37856978.	NM_016955.4(SEPSECS):c.388+3A>G GRCh37: Chr4:25158475 GRCh38: Chr4:25156853	SEPSECS		not specified, Pontocerebellar hypoplasia type 2D, not provided	Conflicting interpretations of pathogenicity (Aug 19, 2023)	criteria provided, conflicting interpretations
Select item 37408579.	NM_016955.4(SEPSECS):c.388+5G>A GRCh37: Chr4:25158473 GRCh38: Chr4:25156851	SEPSECS		Congenital cerebellar hypoplasia, Arthrogryposis multiplex congenita, Kyphosis, Spinal rigidity, Severe global developmental delay, Cerebral hypoplasia, Seizure, Pontocerebellar hypoplasia type 2D	Likely pathogenic (Jan 1, 2016)	criteria provided, single submitter
Select item 34855380.	NM_016955.4(SEPSECS):c.1120+12T>C GRCh37: Chr4:25128874 GRCh38: Chr4:25127252	SEPSECS		not specified, not provided, Pontocerebellar hypoplasia type 2D	Benign (Oct 28, 2022)	criteria provided, multiple submitters, no conflicts
Select item 34855281.	NM_016955.4(SEPSECS):c.1276A>G (p.Thr426Ala) GRCh37: Chr4:25125783 GRCh38: Chr4:25124161	SEPSECS	T426A	not provided, Inborn genetic diseases, Pontocerebellar hypoplasia type 2D	Uncertain significance (Aug 9, 2022)	criteria provided, multiple submitters, no conflicts
Select item 34855182.	NM_016955.4(SEPSECS):c.*112T>C GRCh37: Chr4:25125441 GRCh38: Chr4:25123819	SEPSECS		Pontocerebellar hypoplasia type 2D	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 34854983.	NM_016955.4(SEPSECS):c.*253A>G GRCh37: Chr4:25125300 GRCh38: Chr4:25123678	SEPSECS		Pontocerebellar hypoplasia type 2D	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 34854784.	NM_016955.4(SEPSECS):c.*271G>A GRCh37: Chr4:25125282 GRCh38: Chr4:25123660	SEPSECS		Pontocerebellar hypoplasia type 2D	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 34854685.	NM_016955.4(SEPSECS):c.*354C>T GRCh37: Chr4:25125199 GRCh38: Chr4:25123577	SEPSECS		Pontocerebellar hypoplasia type 2D	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 34854486.	NM_016955.4(SEPSECS):c.*420G>C GRCh37: Chr4:25125133 GRCh38: Chr4:25123511	SEPSECS		Pontocerebellar hypoplasia type 2D	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 34854387.	NM_016955.4(SEPSECS):c.*454C>T GRCh37: Chr4:25125099 GRCh38: Chr4:25123477	SEPSECS		Pontocerebellar hypoplasia type 2D	Benign (Jan 13, 2018)	criteria provided, single submitter
Select item 34854288.	NM_016955.4(SEPSECS):c.*455C>T GRCh37: Chr4:25125098 GRCh38: Chr4:25123476	SEPSECS		Pontocerebellar hypoplasia type 2D	Likely benign (Apr 27, 2017)	criteria provided, single submitter
Select item 34854189.	NM_016955.4(SEPSECS):c.*470T>G GRCh37: Chr4:25125083 GRCh38: Chr4:25123461	SEPSECS		Pontocerebellar hypoplasia type 2D	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 34854090.	NM_016955.4(SEPSECS):c.*610G>A GRCh37: Chr4:25124943 GRCh38: Chr4:25123321	SEPSECS		Pontocerebellar hypoplasia type 2D	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 34853991.	NM_016955.4(SEPSECS):c.*612G>T GRCh37: Chr4:25124941 GRCh38: Chr4:25123319	SEPSECS		Pontocerebellar hypoplasia type 2D	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 34853892.	NM_016955.4(SEPSECS):c.*638G>C GRCh37: Chr4:25124915 GRCh38: Chr4:25123293	SEPSECS		Pontocerebellar hypoplasia type 2D	Likely benign (Apr 27, 2017)	criteria provided, single submitter
Select item 34853793.	NM_016955.4(SEPSECS):c.*681A>C GRCh37: Chr4:25124872 GRCh38: Chr4:25123250	SEPSECS		Pontocerebellar hypoplasia type 2D	Benign (Jan 12, 2018)	criteria provided, single submitter
Select item 34853694.	NM_016955.4(SEPSECS):c.*807A>G GRCh37: Chr4:25124746 GRCh38: Chr4:25123124	SEPSECS		Pontocerebellar hypoplasia type 2D	Benign (Apr 27, 2017)	criteria provided, single submitter
Select item 34853595.	NM_016955.4(SEPSECS):c.*1041T>C GRCh37: Chr4:25124512 GRCh38: Chr4:25122890	SEPSECS		Pontocerebellar hypoplasia type 2D	Likely benign (Apr 27, 2017)	criteria provided, single submitter
Select item 34853496.	NM_016955.4(SEPSECS):c.*1574T>C GRCh37: Chr4:25123979 GRCh38: Chr4:25122357	SEPSECS		Pontocerebellar hypoplasia type 2D	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 34853397.	NM_016955.4(SEPSECS):c.*1614T>C GRCh37: Chr4:25123939 GRCh38: Chr4:25122317	SEPSECS		Pontocerebellar hypoplasia type 2D	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 34853298.	NM_016955.4(SEPSECS):c.*1620C>T GRCh37: Chr4:25123933 GRCh38: Chr4:25122311	SEPSECS		Pontocerebellar hypoplasia type 2D	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 34853199.	NM_016955.4(SEPSECS):c.*1622T>C GRCh37: Chr4:25123931 GRCh38: Chr4:25122309	SEPSECS		Pontocerebellar hypoplasia type 2D	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 348530100.	NM_016955.4(SEPSECS):c.*1635G>A GRCh37: Chr4:25123918 GRCh38: Chr4:25122296	SEPSECS		Pontocerebellar hypoplasia type 2D	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter

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