ClinVar for MedGen (Select 462490) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3242529	NM_016955.4(SEPSECS):c.440G>A (p.Ser147Asn)	SEPSECS (S147N +1 more)	Single nucleotide variant (missense variant)	Pontocerebellar hypoplasia type 2D	GLikely pathogenic
Select item 3024394	NM_016955.4(SEPSECS):c.238G>A (p.Ala80Thr)	SEPSECS (A165T +1 more)	Single nucleotide variant (missense variant)	Pontocerebellar hypoplasia type 2D	GUncertain significance
Select item 3024393	NM_016955.4(SEPSECS):c.437T>C (p.Met146Thr)	SEPSECS (M146T +1 more)	Single nucleotide variant (missense variant)	Pontocerebellar hypoplasia type 2D	GUncertain significance
Select item 2435812	NM_016955.4(SEPSECS):c.1067C>T (p.Ser356Leu)	SEPSECS (S356L +1 more)	Single nucleotide variant (missense variant)	Pontocerebellar hypoplasia type 2D	GUncertain significance
Select item 1878596	NM_016955.4(SEPSECS):c.1178C>T (p.Ser393Leu)	SEPSECS (S393L +1 more)	Single nucleotide variant (missense variant)	Pontocerebellar hypoplasia type 2D +1 more	GUncertain significance
Select item 1356091	NM_016955.4(SEPSECS):c.1023_1026del (p.Glu343fs)	SEPSECS (E343fs)	Microsatellite (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1329502	NM_016955.4(SEPSECS):c.467G>A (p.Arg156Gln)	SEPSECS (R156Q)	Single nucleotide variant (missense variant)	Pontocerebellar hypoplasia type 2D	GUncertain significance
Select item 1298330	NM_016955.4(SEPSECS):c.1A>T (p.Met1Leu)	SEPSECS (M1L)	Single nucleotide variant (missense variant +1 more)	Pontocerebellar hypoplasia type 2D	GPathogenic
Select item 1296157	NM_016955.4(SEPSECS):c.115-4del	SEPSECS	Deletion (intron variant)	not provided	GBenign
Select item 1223757	NM_016955.4(SEPSECS):c.1A>G (p.Met1Val)	SEPSECS (M1V)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1209835	NM_016955.4(SEPSECS):c.823A>G (p.Ile275Val)	SEPSECS (I275V)	Single nucleotide variant (missense variant)	Pontocerebellar hypoplasia type 2D	GUncertain significance
Select item 1141687	NM_016955.4(SEPSECS):c.84T>C (p.His28=)	LOC129992330, SEPSECS	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1075426	NM_016955.4(SEPSECS):c.811C>T (p.Arg271Ter)	SEPSECS (R271*)	Single nucleotide variant (nonsense)	Inborn genetic diseases +2 more	GPathogenic/Likely pathogenic
Select item 1072923	NM_016955.4(SEPSECS):c.1148dup (p.His383fs)	SEPSECS (H383fs)	Duplication (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1072606	NM_016955.4(SEPSECS):c.466C>T (p.Arg156Ter)	SEPSECS (R156*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1066471	NM_016955.4(SEPSECS):c.389-1G>A	SEPSECS	Single nucleotide variant (splice acceptor variant)	not provided +1 more	GLikely pathogenic
Select item 1028038	NM_016955.4(SEPSECS):c.256C>T (p.Arg86Cys)	SEPSECS (R86C)	Single nucleotide variant (missense variant)	Pontocerebellar hypoplasia type 2D	GUncertain significance
Select item 990319	NM_016955.4(SEPSECS):c.264T>A (p.His88Gln)	SEPSECS (H88Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 990318	NM_016955.4(SEPSECS):c.499T>C (p.Trp167Arg)	SEPSECS (W167R)	Single nucleotide variant (missense variant)	Pontocerebellar hypoplasia type 2D	GUncertain significance
Select item 990317	NM_016955.4(SEPSECS):c.804+4A>T	SEPSECS	Single nucleotide variant (intron variant)	Pontocerebellar hypoplasia type 2D	GUncertain significance
Select item 990316	NM_016955.4(SEPSECS):c.960A>G (p.Leu320=)	SEPSECS	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 990315	NM_016955.4(SEPSECS):c.1120G>A (p.Ala374Thr)	SEPSECS (A374T)	Single nucleotide variant (missense variant)	Pontocerebellar hypoplasia type 2D	GUncertain significance
Select item 989884	NM_016955.4(SEPSECS):c.1222C>T (p.Leu408Phe)	SEPSECS (L408F)	Single nucleotide variant (missense variant)	Pontocerebellar hypoplasia type 2D	GUncertain significance
Select item 989883	NM_016955.4(SEPSECS):c.1250A>G (p.Tyr417Cys)	SEPSECS (Y417C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 989882	NM_016955.4(SEPSECS):c.1320C>T (p.Ile440=)	SEPSECS	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 989881	NM_016955.4(SEPSECS):c.1351A>G (p.Ile451Val)	SEPSECS (I451V)	Single nucleotide variant (missense variant)	Pontocerebellar hypoplasia type 2D	GUncertain significance
Select item 989880	NM_016955.4(SEPSECS):c.1390G>T (p.Glu464Ter)	SEPSECS (E464*)	Single nucleotide variant (nonsense)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 989879	NM_016955.4(SEPSECS):c.1453G>A (p.Ala485Thr)	SEPSECS (A485T)	Single nucleotide variant (missense variant)	Pontocerebellar hypoplasia type 2D	GUncertain significance
Select item 989878	NM_016955.4(SEPSECS):c.1461A>C (p.Lys487Asn)	SEPSECS (K487N)	Single nucleotide variant (missense variant)	Pontocerebellar hypoplasia type 2D	GUncertain significance
Select item 989877	NM_016955.4(SEPSECS):c.*6G>A	SEPSECS	Single nucleotide variant (3 prime UTR variant)	Pontocerebellar hypoplasia type 2D	GUncertain significance
Select item 984624	NM_016955.4(SEPSECS):c.114+3A>G	LOC129992330, SEPSECS	Single nucleotide variant (intron variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 983266	NM_016955.4(SEPSECS):c.812G>T (p.Arg271Leu)	SEPSECS (R271L)	Single nucleotide variant (missense variant)	Pontocerebellar hypoplasia type 2D	GUncertain significance
Select item 917830	NM_016955.4(SEPSECS):c.95T>G (p.Ile32Arg)	SEPSECS, LOC129992330 (I32R)	Single nucleotide variant (missense variant)	Pontocerebellar hypoplasia type 2D	GUncertain significance
Select item 902753	NM_016955.4(SEPSECS):c.*223G>A	SEPSECS	Single nucleotide variant (3 prime UTR variant)	Pontocerebellar hypoplasia type 2D	GBenign
Select item 902752	NM_016955.4(SEPSECS):c.*327G>A	SEPSECS	Single nucleotide variant (3 prime UTR variant)	Pontocerebellar hypoplasia type 2D	GUncertain significance
Select item 902751	NM_016955.4(SEPSECS):c.*328A>T	SEPSECS	Single nucleotide variant (3 prime UTR variant)	Pontocerebellar hypoplasia type 2D	GUncertain significance
Select item 902750	NM_016955.4(SEPSECS):c.*352A>G	SEPSECS	Single nucleotide variant (3 prime UTR variant)	Pontocerebellar hypoplasia type 2D	GUncertain significance
Select item 902680	NM_016955.4(SEPSECS):c.*2480T>G	SEPSECS	Single nucleotide variant (3 prime UTR variant)	Pontocerebellar hypoplasia type 2D	GUncertain significance
Select item 902679	NM_016955.4(SEPSECS):c.*2618C>A	SEPSECS	Single nucleotide variant (3 prime UTR variant)	Pontocerebellar hypoplasia type 2D	GUncertain significance
Select item 901903	NM_016955.4(SEPSECS):c.389-10T>C	SEPSECS	Single nucleotide variant (intron variant)	Pontocerebellar hypoplasia type 2D +1 more	GConflicting classifications of pathogenicity
Select item 901902	NM_016955.4(SEPSECS):c.389-8A>C	SEPSECS	Single nucleotide variant (intron variant)	Pontocerebellar hypoplasia type 2D +1 more	GConflicting classifications of pathogenicity
Select item 901773	NM_016955.4(SEPSECS):c.*2871T>C	SEPSECS	Single nucleotide variant (3 prime UTR variant)	Pontocerebellar hypoplasia type 2D	GUncertain significance
Select item 901772	NM_016955.4(SEPSECS):c.*2916A>G	SEPSECS	Single nucleotide variant (3 prime UTR variant)	Pontocerebellar hypoplasia type 2D	GUncertain significance
Select item 901771	NM_016955.4(SEPSECS):c.*2921A>G	SEPSECS	Single nucleotide variant (3 prime UTR variant)	Pontocerebellar hypoplasia type 2D	GUncertain significance
Select item 901770	NM_016955.4(SEPSECS):c.*2966A>G	SEPSECS	Single nucleotide variant (3 prime UTR variant)	Pontocerebellar hypoplasia type 2D	GBenign
Select item 901353	NM_016955.4(SEPSECS):c.634C>G (p.Leu212Val)	SEPSECS (L212V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 901352	NM_016955.4(SEPSECS):c.1120+8C>A	SEPSECS	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 901351	NM_016955.4(SEPSECS):c.1181T>C (p.Met394Thr)	SEPSECS (M394T)	Single nucleotide variant (missense variant)	Pontocerebellar hypoplasia type 2D	GUncertain significance
Select item 901290	NM_016955.4(SEPSECS):c.*1008T>C	SEPSECS	Single nucleotide variant (3 prime UTR variant)	Pontocerebellar hypoplasia type 2D	GUncertain significance
Select item 901289	NM_016955.4(SEPSECS):c.*1031G>A	SEPSECS	Single nucleotide variant (3 prime UTR variant)	Pontocerebellar hypoplasia type 2D	GUncertain significance
Select item 901288	NM_016955.4(SEPSECS):c.*1122C>T	SEPSECS	Single nucleotide variant (3 prime UTR variant)	Pontocerebellar hypoplasia type 2D	GUncertain significance
Select item 901287	NM_016955.4(SEPSECS):c.*1591G>A	SEPSECS	Single nucleotide variant (3 prime UTR variant)	Pontocerebellar hypoplasia type 2D	GUncertain significance
Select item 901221	NM_016955.4(SEPSECS):c.*3870A>T	SEPSECS	Single nucleotide variant (3 prime UTR variant)	Pontocerebellar hypoplasia type 2D	GUncertain significance
Select item 900190	NM_016955.4(SEPSECS):c.1257C>G (p.Phe419Leu)	SEPSECS (F419L)	Single nucleotide variant (missense variant)	Pontocerebellar hypoplasia type 2D	GUncertain significance
Select item 900189	NM_016955.4(SEPSECS):c.1326G>A (p.Met442Ile)	SEPSECS (M442I)	Single nucleotide variant (missense variant)	Pontocerebellar hypoplasia type 2D	GUncertain significance
Select item 900188	NM_016955.4(SEPSECS):c.1505G>A (p.Ter502=)	SEPSECS	Single nucleotide variant (synonymous variant)	Pontocerebellar hypoplasia type 2D	GUncertain significance
Select item 900129	NM_016955.4(SEPSECS):c.*1637G>A	SEPSECS	Single nucleotide variant (3 prime UTR variant)	Pontocerebellar hypoplasia type 2D	GUncertain significance
Select item 900128	NM_016955.4(SEPSECS):c.*1648G>A	SEPSECS	Single nucleotide variant (3 prime UTR variant)	Pontocerebellar hypoplasia type 2D	GUncertain significance
Select item 900127	NM_016955.4(SEPSECS):c.*1659C>A	SEPSECS	Single nucleotide variant (3 prime UTR variant)	Pontocerebellar hypoplasia type 2D	GUncertain significance
Select item 810638	NM_016955.4(SEPSECS):c.181A>G (p.Met61Val)	SEPSECS (M61V)	Single nucleotide variant (missense variant)	Pontocerebellar hypoplasia type 2D	GUncertain significance
Select item 800530	NM_016955.4(SEPSECS):c.1000T>C (p.Tyr334His)	SEPSECS (Y334H)	Single nucleotide variant (missense variant)	Pontocerebellar hypoplasia type 2D	GUncertain significance
Select item 794196	NM_016955.4(SEPSECS):c.1212-10C>G	SEPSECS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 761884	NM_016955.4(SEPSECS):c.45G>A (p.Pro15=)	SEPSECS	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 750868	NM_016955.4(SEPSECS):c.1027-9T>C	SEPSECS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 734701	NM_016955.4(SEPSECS):c.1291T>G (p.Cys431Gly)	SEPSECS (C431G)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 695730	NM_016955.4(SEPSECS):c.388+10G>A	SEPSECS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 695674	NM_016955.4(SEPSECS):c.1023A>G (p.Arg341=)	SEPSECS	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 695635	NM_016955.4(SEPSECS):c.919A>G (p.Ser307Gly)	SEPSECS (S307G)	Single nucleotide variant (missense variant)	SEPSECS-related disorder +2 more	GLikely benign
Select item 695409	NM_016955.4(SEPSECS):c.1027-7G>A	SEPSECS	Single nucleotide variant (intron variant)	Pontocerebellar hypoplasia type 2D +2 more	GConflicting classifications of pathogenicity
Select item 695294	NM_016955.4(SEPSECS):c.1128A>G (p.Thr376=)	SEPSECS	Single nucleotide variant (synonymous variant)	Pontocerebellar hypoplasia type 2D +2 more	GBenign/Likely benign
Select item 645393	NM_016955.4(SEPSECS):c.289C>T (p.Arg97Ter)	SEPSECS (R97*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 638522	NM_016955.4(SEPSECS):c.1274A>G (p.His425Arg)	SEPSECS (H425R)	Single nucleotide variant (missense variant)	Pontocerebellar hypoplasia type 2D	GUncertain significance
Select item 638521	NM_006493.4(CLN5):c.208T>C (p.Cys70Arg)	CLN5 (C70R)	Single nucleotide variant (missense variant)	Pontocerebellar hypoplasia type 2D +1 more	GConflicting classifications of pathogenicity
Select item 632438	NM_016955.4(SEPSECS):c.1393C>T (p.Arg465Ter)	SEPSECS (R465*)	Single nucleotide variant (nonsense)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 620464	NM_016955.4(SEPSECS):c.766G>T (p.Gly256Ter)	SEPSECS (G256*)	Single nucleotide variant (nonsense)	not provided	GPathogenic/Likely pathogenic
Select item 546218	NM_016955.4(SEPSECS):c.389G>A (p.Gly130Asp)	SEPSECS (G130D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 522806	NM_016955.4(SEPSECS):c.846G>A (p.Leu282=)	SEPSECS	Single nucleotide variant (synonymous variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 451511	NM_016955.4(SEPSECS):c.491A>G (p.Tyr164Cys)	SEPSECS (Y164C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 432393	NM_016955.4(SEPSECS):c.584G>A (p.Gly195Asp)	SEPSECS (G195D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 432373	NM_016955.4(SEPSECS):c.548-1G>A	SEPSECS	Single nucleotide variant (splice acceptor variant)	not provided	GConflicting classifications of pathogenicity
Select item 423999	NM_016955.4(SEPSECS):c.1022G>A (p.Arg341Lys)	SEPSECS (R341K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 378569	NM_016955.4(SEPSECS):c.388+3A>G	SEPSECS	Single nucleotide variant (intron variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 374085	NM_016955.4(SEPSECS):c.388+5G>A	SEPSECS	Single nucleotide variant (intron variant)	Congenital cerebellar hypoplasia +7 more	GLikely pathogenic
Select item 348553	NM_016955.4(SEPSECS):c.1120+12T>C	SEPSECS	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 348552	NM_016955.4(SEPSECS):c.1276A>G (p.Thr426Ala)	SEPSECS (T426A)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 348551	NM_016955.4(SEPSECS):c.*112T>C	SEPSECS	Single nucleotide variant (3 prime UTR variant)	Pontocerebellar hypoplasia type 2D	GUncertain significance
Select item 348549	NM_016955.4(SEPSECS):c.*253A>G	SEPSECS	Single nucleotide variant (3 prime UTR variant)	Pontocerebellar hypoplasia type 2D	GUncertain significance
Select item 348547	NM_016955.4(SEPSECS):c.*271G>A	SEPSECS	Single nucleotide variant (3 prime UTR variant)	Pontocerebellar hypoplasia type 2D	GUncertain significance
Select item 348546	NM_016955.4(SEPSECS):c.*354C>T	SEPSECS	Single nucleotide variant (3 prime UTR variant)	Pontocerebellar hypoplasia type 2D	GUncertain significance
Select item 348544	NM_016955.4(SEPSECS):c.*420G>C	SEPSECS	Single nucleotide variant (3 prime UTR variant)	Pontocerebellar hypoplasia type 2D	GUncertain significance
Select item 348543	NM_016955.4(SEPSECS):c.*454C>T	SEPSECS	Single nucleotide variant (3 prime UTR variant)	Pontocerebellar hypoplasia type 2D	GBenign
Select item 348542	NM_016955.4(SEPSECS):c.*455C>T	SEPSECS	Single nucleotide variant (3 prime UTR variant)	Pontocerebellar hypoplasia type 2D	GLikely benign
Select item 348541	NM_016955.4(SEPSECS):c.*470T>G	SEPSECS	Single nucleotide variant (3 prime UTR variant)	Pontocerebellar hypoplasia type 2D	GUncertain significance
Select item 348540	NM_016955.4(SEPSECS):c.*610G>A	SEPSECS	Single nucleotide variant (3 prime UTR variant)	Pontocerebellar hypoplasia type 2D	GUncertain significance
Select item 348539	NM_016955.4(SEPSECS):c.*612G>T	SEPSECS	Single nucleotide variant (3 prime UTR variant)	Pontocerebellar hypoplasia type 2D	GUncertain significance
Select item 348538	NM_016955.4(SEPSECS):c.*638G>C	SEPSECS	Single nucleotide variant (3 prime UTR variant)	Pontocerebellar hypoplasia type 2D	GLikely benign
Select item 348537	NM_016955.4(SEPSECS):c.*681A>C	SEPSECS	Single nucleotide variant (3 prime UTR variant)	Pontocerebellar hypoplasia type 2D	GBenign
Select item 348536	NM_016955.4(SEPSECS):c.*807A>G	SEPSECS	Single nucleotide variant (3 prime UTR variant)	Pontocerebellar hypoplasia type 2D	GBenign
Select item 348535	NM_016955.4(SEPSECS):c.*1041T>C	SEPSECS	Single nucleotide variant (3 prime UTR variant)	Pontocerebellar hypoplasia type 2D	GLikely benign
Select item 348534	NM_016955.4(SEPSECS):c.*1574T>C	SEPSECS	Single nucleotide variant (3 prime UTR variant)	Pontocerebellar hypoplasia type 2D	GUncertain significance

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