"GeneDx"[submitter] AND "LOC126862578"[gene] - ClinVar

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Items: 23

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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

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Items: 23