"GeneDx"[submitter] AND "GOSR2"[gene] - ClinVar

Search results

Items: 94

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1241591	NC_000017.11:g.46922868C>T	GOSR2, GOSR2-DT +1 more	Single nucleotide variant	not provided	GBenign
Select item 1230145	NC_000017.11:g.46922988C>T	GOSR2, LRRC37A2	Single nucleotide variant	not provided	GBenign
Select item 1277663	NM_001012511.3(GOSR2):c.-32_-31insCCAGAGCCAG	GOSR2, LRRC37A2	Duplication	not provided	GBenign
Select item 389335	NM_004287.4(GOSR2):c.-34C>T	GOSR2, LRRC37A2	Single nucleotide variant (genic downstream transcript variant)	not specified	GLikely benign
Select item 137487	NM_004287.5(GOSR2):c.-30G>C	GOSR2, LRRC37A2	Single nucleotide variant (5 prime UTR variant +1 more)	not specified +3 more	GBenign
Select item 377927	NM_004287.5(GOSR2):c.-29C>T	GOSR2, LRRC37A2	Single nucleotide variant (5 prime UTR variant +1 more)	not specified +1 more	GLikely benign
Select item 377928	NM_004287.5(GOSR2):c.-26G>C	GOSR2, LRRC37A2	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GBenign
Select item 205626	NM_004287.5(GOSR2):c.-23C>A	GOSR2, LRRC37A2	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GBenign
Select item 517687	NM_004287.5(GOSR2):c.-22C>G	GOSR2, LRRC37A2	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GLikely benign
Select item 1233755	NM_004287.5(GOSR2):c.-16C>G	GOSR2, LRRC37A2	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 193275	NM_004287.5(GOSR2):c.-12G>C	LRRC37A2, GOSR2	Single nucleotide variant (5 prime UTR variant +1 more)	not specified +3 more	GBenign
Select item 205632	NM_004287.5(GOSR2):c.-1C>T	GOSR2, LRRC37A2	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GUncertain significance
Select item 1061696	NM_004287.5(GOSR2):c.1A>G (p.Met1Val)	GOSR2, LRRC37A2 (M1V)	Single nucleotide variant (missense variant +3 more)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 1036487	NM_004287.5(GOSR2):c.7C>T (p.Pro3Ser)	GOSR2, LRRC37A2 (P3S)	Single nucleotide variant (missense variant +2 more)	Progressive myoclonic epilepsy +1 more	GUncertain significance
Select item 137488	NM_004287.5(GOSR2):c.7C>A (p.Pro3Thr)	GOSR2, LRRC37A2 (P3T)	Single nucleotide variant (missense variant +2 more)	not specified +3 more	GBenign/Likely benign
Select item 429688	NM_004287.5(GOSR2):c.8C>A (p.Pro3His)	LRRC37A2, GOSR2 (P3H)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GUncertain significance
Select item 405440	NM_004287.5(GOSR2):c.22dup (p.Thr8fs)	LRRC37A2, GOSR2 (T8fs)	Duplication (frameshift variant +2 more)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 265531	NM_004287.5(GOSR2):c.29+1G>A	GOSR2, LRRC37A2	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely pathogenic
Select item 137489	NM_004287.5(GOSR2):c.29+8C>T	GOSR2, LRRC37A2	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 383842	NM_004287.5(GOSR2):c.29+9C>T	GOSR2, LRRC37A2	Single nucleotide variant (5 prime UTR variant +1 more)	Progressive myoclonic epilepsy +1 more	GLikely benign
Select item 323821	NM_004287.5(GOSR2):c.29+13C>T	GOSR2, LRRC37A2	Single nucleotide variant (5 prime UTR variant +1 more)	Progressive myoclonic epilepsy type 6 +2 more	GConflicting classifications of pathogenicity
Select item 1271103	NM_004287.5(GOSR2):c.29+114A>G	GOSR2, LRRC37A2	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 1231575	NM_004287.5(GOSR2):c.29+149C>T	GOSR2, LRRC37A2	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 669369	NM_004287.5(GOSR2):c.39C>T (p.His13=)	GOSR2, LRRC37A2	Single nucleotide variant (synonymous variant +2 more)	Progressive myoclonic epilepsy +2 more	GLikely benign
Select item 205627	NM_004287.5(GOSR2):c.40G>A (p.Glu14Lys)	GOSR2, LRRC37A2 (E14K)	Single nucleotide variant (missense variant +2 more)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 1313643	NM_004287.5(GOSR2):c.53G>C (p.Cys18Ser)	GOSR2, LRRC37A2 (C18S)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 377929	NM_004287.5(GOSR2):c.72G>A (p.Thr24=)	GOSR2, LRRC37A2	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GLikely benign
Select item 983499	NM_004287.5(GOSR2):c.82C>T (p.Gln28Ter)	LRRC37A2, GOSR2 (Q10* +1 more)	Single nucleotide variant (nonsense +1 more)	Progressive myoclonic epilepsy +1 more	GPathogenic
Select item 205633	NM_004287.5(GOSR2):c.94+4A>G	GOSR2, LRRC37A2	Single nucleotide variant (intron variant)	not provided +2 more	GUncertain significance
Select item 695955	NM_004287.5(GOSR2):c.94+7A>C	GOSR2, LRRC37A2	Single nucleotide variant (intron variant)	Progressive myoclonic epilepsy type 6 +2 more	GConflicting classifications of pathogenicity
Select item 387651	NM_004287.5(GOSR2):c.94+12A>G	GOSR2, LRRC37A2	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 419969	NM_004287.5(GOSR2):c.94+16_94+17del	GOSR2, LRRC37A2	Microsatellite (intron variant)	Progressive myoclonic epilepsy +1 more	GLikely benign
Select item 1221430	NM_004287.5(GOSR2):c.94+153T>G	GOSR2, LRRC37A2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 668838	NM_004287.5(GOSR2):c.94+257C>G	GOSR2, LRRC37A2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 683278	NM_004287.5(GOSR2):c.94+263A>G	GOSR2, LRRC37A2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 385916	NM_004287.5(GOSR2):c.95-17T>C	GOSR2, LOC126862578 +1 more	Single nucleotide variant (intron variant)	Progressive myoclonic epilepsy +1 more	GBenign/Likely benign
Select item 546434	NM_004287.5(GOSR2):c.104A>G (p.Asn35Ser)	GOSR2, LOC126862578 +1 more (N35S +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 508875	NM_004287.5(GOSR2):c.105C>T (p.Asn35=)	LOC126862578, LRRC37A2 +1 more	Single nucleotide variant (synonymous variant +1 more)	not specified +1 more	GLikely benign
Select item 205628	NM_004287.5(GOSR2):c.111C>T (p.Ile37=)	GOSR2, LOC126862578 +1 more	Single nucleotide variant (synonymous variant +1 more)	not specified +4 more	GBenign/Likely benign
Select item 1810140	NM_004287.5(GOSR2):c.122T>G (p.Ile41Arg)	GOSR2, LOC126862578 +1 more (I23R +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 405441	NM_004287.5(GOSR2):c.133T>C (p.Phe45Leu)	GOSR2, LOC126862578 +1 more (F45L +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 205629	NM_004287.5(GOSR2):c.148C>T (p.Arg50Cys)	GOSR2, LRRC37A2 +1 more (R50C +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 449170	NM_004287.5(GOSR2):c.149G>A (p.Arg50His)	GOSR2, LOC126862578 +1 more (R50H +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 129165	NM_004287.5(GOSR2):c.200G>A (p.Arg67Lys)	LRRC37A2, GOSR2 +1 more (R67K +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +5 more	GBenign
Select item 379839	NM_004287.5(GOSR2):c.203+3A>G	GOSR2, LOC126862578 +1 more	Single nucleotide variant (intron variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 678183	NM_004287.5(GOSR2):c.203+153C>G	GOSR2, LOC126862578 +1 more	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 681778	NM_004287.5(GOSR2):c.203+169G>C	GOSR2, LOC126862578 +1 more	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3252675	NM_004287.5(GOSR2):c.204-22TC[6]	GOSR2, LOC126862578 +1 more	Microsatellite (intron variant)	not provided	GUncertain significance
Select item 503796	NM_004287.5(GOSR2):c.204-22TC[3]	LRRC37A2, GOSR2 +1 more	Microsatellite (intron variant)	not specified	GUncertain significance
Select item 205636	NM_004287.5(GOSR2):c.206G>A (p.Arg69Gln)	GOSR2, LOC126862578 +1 more (R69Q +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 588743	NM_004287.5(GOSR2):c.213C>A (p.Asp71Glu)	GOSR2, LOC126862578 +1 more (D71E +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 675196	NM_004287.5(GOSR2):c.231C>T (p.Val77=)	GOSR2, LOC126862578 +1 more	Single nucleotide variant (synonymous variant +1 more)	Progressive myoclonic epilepsy +1 more	GLikely benign
Select item 323822	NM_004287.5(GOSR2):c.246T>C (p.Thr82=)	LRRC37A2, GOSR2 +1 more	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 1312855	NM_004287.5(GOSR2):c.247G>A (p.Ala83Thr)	GOSR2, LOC126862578 +1 more (A65T +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 379391	NM_004287.5(GOSR2):c.249G>T (p.Ala83=)	GOSR2, LOC126862578 +1 more	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 451051	NM_004287.5(GOSR2):c.260T>C (p.Phe87Ser)	GOSR2, LOC126862578 +1 more (F87S +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 999936	NM_004287.5(GOSR2):c.268C>T (p.Arg90Trp)	LOC126862578, LRRC37A2 +1 more (R72W +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 641335	NM_004287.5(GOSR2):c.272G>A (p.Arg91His)	GOSR2, LOC126862578 +1 more (R91H +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 205634	NM_004287.5(GOSR2):c.322A>C (p.Thr108Pro)	GOSR2, LRRC37A2 (T108P +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 211092	NM_004287.5(GOSR2):c.336+1G>A	GOSR2, LRRC37A2	Single nucleotide variant (splice donor variant)	GOSR2-related disorder +4 more	GPathogenic/Likely pathogenic
Select item 323823	NM_004287.5(GOSR2):c.336+9G>A	GOSR2, LRRC37A2	Single nucleotide variant (intron variant)	Progressive myoclonic epilepsy type 6 +2 more	GConflicting classifications of pathogenicity
Select item 1223168	NM_004287.5(GOSR2):c.336+45G>A	GOSR2, LRRC37A2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 670820	NM_004287.5(GOSR2):c.336+45G>T	GOSR2, LRRC37A2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 668839	NM_004287.5(GOSR2):c.337-308A>G	GOSR2, LRRC37A2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 681357	NM_004287.5(GOSR2):c.337-147T>G	GOSR2, LRRC37A2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 589948	NM_004287.5(GOSR2):c.364G>A (p.Glu122Lys)	GOSR2, LRRC37A2 (E122K +2 more)	Single nucleotide variant (missense variant +2 more)	not provided +2 more	GUncertain significance
Select item 377930	NM_004287.5(GOSR2):c.369A>G (p.Ser123=)	GOSR2, LRRC37A2	Single nucleotide variant (synonymous variant +2 more)	not specified +2 more	GBenign/Likely benign
Select item 205630	NM_004287.5(GOSR2):c.388C>T (p.Leu130Phe)	GOSR2, LRRC37A2 (L130F +2 more)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 947451	NM_004287.5(GOSR2):c.393G>T (p.Gln131His)	GOSR2, LRRC37A2 (Q131H +2 more)	Single nucleotide variant (missense variant +2 more)	Progressive myoclonic epilepsy +1 more	GUncertain significance
Select item 259264	NM_004287.5(GOSR2):c.405C>T (p.Asn135=)	GOSR2, LRRC37A2	Single nucleotide variant (synonymous variant +2 more)	not provided +2 more	GLikely benign
Select item 30406	NM_004287.5(GOSR2):c.430G>T (p.Gly144Trp)	GOSR2, LRRC37A2 (G144W +2 more)	Single nucleotide variant (missense variant +2 more)	not provided +2 more	GPathogenic
Select item 1303937	NM_004287.5(GOSR2):c.448G>A (p.Gly150Arg)	GOSR2, LRRC37A2 (G132R +2 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1312307	NM_004287.5(GOSR2):c.463A>G (p.Arg155Gly)	GOSR2, LRRC37A2 (R137G +2 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1183104	NM_004287.5(GOSR2):c.478-130T>C	GOSR2, LRRC37A2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 205625	NM_004287.5(GOSR2):c.478-20dup	LRRC37A2, GOSR2	Duplication (intron variant)	not specified	GBenign
Select item 205631	NM_004287.5(GOSR2):c.509A>G (p.Asn170Ser)	LRRC37A2, GOSR2 (N170S +5 more)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GUncertain significance
Select item 843085	NM_004287.5(GOSR2):c.538C>T (p.Arg180Trp)	GOSR2, LRRC37A2 (R133W +5 more)	Single nucleotide variant (missense variant +1 more)	Progressive myoclonic epilepsy +1 more	GUncertain significance
Select item 323826	NM_004287.5(GOSR2):c.541C>G (p.Leu181Val)	GOSR2, LRRC37A2 (L181V +5 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 379508	NM_004287.5(GOSR2):c.546C>T (p.Ile182=)	LRRC37A2, GOSR2	Single nucleotide variant (synonymous variant +1 more)	Progressive myoclonic epilepsy +1 more	GLikely benign
Select item 1218275	NM_004287.5(GOSR2):c.547G>A (p.Glu183Lys)	GOSR2, LRRC37A2 (E118K +5 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 205635	NM_004287.5(GOSR2):c.557_584del (p.Ala186fs)	GOSR2, LRRC37A2 (A139fs +5 more)	Deletion (frameshift variant +1 more)	not provided +1 more	GUncertain significance
Select item 1308401	NM_004287.5(GOSR2):c.587G>C (p.Gly196Ala)	LRRC37A2, GOSR2 (G131A +5 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2429521	NM_004287.5(GOSR2):c.618_623delinsACCTAGGGGAAACAAGATGTAGTGCTATTGCCGATAACAAGTAAGATTTTCCACACTACAGCTGGGTGTTTCTCTTTTCTAAAGTGAGGCCAGTGTTATTTCCCGGGAGTGTTCAGTCTTGACCCTAGTCACTGATTTTTTCTAGTTGTTAATAGAGTGGTTGGCTTTTAAGGTTCAGAGACTGTGGCTTGGCACCTGCGCCCAGGCTTTGTGGGCCTTTGCCCCTTAGAAAGTAGCTGTAGGCAAAGATTTGTGATTTTCCAACTTTGAG (p.Val207_Val208delinsProArgGlyAsnLysMetTer)	GOSR2, LRRC37A2	Indel (nonsense +1 more)	not provided	GUncertain significance
Select item 2444685	NM_004287.5(GOSR2):c.627G>C (p.Gln209His)	GOSR2, LRRC37A2 (Q144H +5 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 844028	NM_004287.5(GOSR2):c.634A>G (p.Thr212Ala)	GOSR2, LRRC37A2 (T164A +5 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 323827	NM_004287.5(GOSR2):c.*18G>T	GOSR2, LRRC37A2	Single nucleotide variant (3 prime UTR variant +1 more)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 323828	NM_004287.5(GOSR2):c.288_296dup	GOSR2, LRRC37A2	Duplication (3 prime UTR variant +1 more)	Progressive myoclonic epilepsy +1 more	GBenign/Likely benign
Select item 323830	NM_004287.5(GOSR2):c.*301T>C	GOSR2, LRRC37A2	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GBenign
Select item 323841	NM_004287.5(GOSR2):c.*1519T>C	GOSR2, LRRC37A2	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GBenign
Select item 323842	NM_004287.5(GOSR2):c.*1655A>G	GOSR2, LRRC37A2	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 323845	NM_004287.5(GOSR2):c.*1711G>A	GOSR2, LRRC37A2	Single nucleotide variant (3 prime UTR variant +1 more)	not specified +2 more	GBenign
Select item 323846	NM_004287.5(GOSR2):c.*1733A>G	GOSR2, LRRC37A2	Single nucleotide variant (3 prime UTR variant +1 more)	not specified +2 more	GBenign
Select item 383352	NM_004287.5(GOSR2):c.*1823C>T	GOSR2, LRRC37A2	Single nucleotide variant (3 prime UTR variant +2 more)	not specified +1 more	GBenign/Likely benign
Select item 3361998	NM_004287.5(GOSR2):c.409A>G (p.Met137Val)	GOSR2 (M119V +2 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance

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Items: 94