ClinVar for MedGen (Select 1716712) - ClinVar - NCBI

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Items: 19

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3254901	NM_032108.4(SEMA6B):c.279del (p.Thr94fs)	SEMA6B (T94fs)	Deletion (frameshift variant)	Epilepsy, progressive myoclonic, 11	GUncertain significance
Select item 2435809	NM_032108.4(SEMA6B):c.1271+4G>T	SEMA6B	Single nucleotide variant (intron variant)	Epilepsy, progressive myoclonic, 11	GUncertain significance
Select item 2433296	NM_032108.4(SEMA6B):c.1739-2A>G	SEMA6B	Single nucleotide variant (splice acceptor variant)	Epilepsy, progressive myoclonic, 11	GLikely pathogenic
Select item 2430274	NM_032108.4(SEMA6B):c.2086C>T (p.Gln696Ter)	SEMA6B (Q696*)	Single nucleotide variant (nonsense)	Epilepsy, progressive myoclonic, 11	GLikely pathogenic
Select item 1709918	NM_032108.4(SEMA6B):c.2372C>G (p.Pro791Arg)	SEMA6B (P791R)	Single nucleotide variant (missense variant)	Epilepsy, progressive myoclonic, 11 +1 more	GConflicting classifications of pathogenicity
Select item 1679783	NM_032108.4(SEMA6B):c.2111C>T (p.Ser704Leu)	SEMA6B (S704L)	Single nucleotide variant (missense variant)	Epilepsy, progressive myoclonic, 11	GUncertain significance
Select item 1526211	NM_032108.4(SEMA6B):c.1534_1537del (p.Ala512fs)	SEMA6B (A512fs)	Microsatellite (frameshift variant)	Epilepsy, progressive myoclonic, 11	GLikely pathogenic
Select item 1343254	NM_032108.4(SEMA6B):c.743T>C (p.Ile248Thr)	SEMA6B (I248T)	Single nucleotide variant (missense variant)	Epilepsy, progressive myoclonic, 11	GUncertain significance
Select item 1339476	NM_032108.4(SEMA6B):c.2066G>A (p.Trp689Ter)	SEMA6B (W689*)	Single nucleotide variant (nonsense)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1334194	NM_032108.4(SEMA6B):c.1873del (p.Arg625fs)	SEMA6B (R625fs)	Deletion (frameshift variant)	Epilepsy, progressive myoclonic, 11	GUncertain significance
Select item 1332942	NM_032108.4(SEMA6B):c.307-31T>G	SEMA6B	Single nucleotide variant (intron variant)	Epilepsy, progressive myoclonic, 11	GBenign
Select item 1332941	NM_032108.4(SEMA6B):c.772-22G>A	SEMA6B	Single nucleotide variant (intron variant)	Epilepsy, progressive myoclonic, 11	GBenign
Select item 1332940	NM_032108.4(SEMA6B):c.1454+30G>T	SEMA6B	Single nucleotide variant (intron variant)	Epilepsy, progressive myoclonic, 11	GBenign
Select item 1332939	NM_032108.4(SEMA6B):c.1601+24C>T	SEMA6B	Single nucleotide variant (intron variant)	Epilepsy, progressive myoclonic, 11	GBenign
Select item 1237432	NM_032108.4(SEMA6B):c.39G>C (p.Leu13=)	SEMA6B	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 872934	NM_032108.4(SEMA6B):c.1991del (p.Gly664fs)	SEMA6B (G664fs)	Deletion (frameshift variant)	Epilepsy, progressive myoclonic, 11 +1 more	GPathogenic/Likely pathogenic
Select item 872933	NM_032108.4(SEMA6B):c.1976_1982del (p.Ala659fs)	SEMA6B (A659fs)	Microsatellite (frameshift variant)	not provided	GPathogenic
Select item 872932	NM_032108.4(SEMA6B):c.1950_1969dup (p.Arg657fs)	SEMA6B (R657fs)	Duplication (frameshift variant)	Epilepsy, progressive myoclonic, 11	GPathogenic
Select item 780503	NM_032108.4(SEMA6B):c.1074C>A (p.Pro358=)	SEMA6B	Single nucleotide variant (synonymous variant)	Epilepsy, progressive myoclonic, 11 +1 more	GBenign/Likely benign