MARCHF6[gene] and "single gene"[properties] - ClinVar

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Items: 29

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 635281	NM_005885.4(MARCHF6):c.19+2427TTTAT[641]	MARCHF6	Microsatellite (intron variant)	Epilepsy, familial adult myoclonic, 3	GPathogenic
Select item 694446	NC_000005.10:g.10356348_10356407TTTTA[(9_?)]TTTCA[(791_1035)]	MARCHF6	Microsatellite	Epilepsy, familial adult myoclonic, 3	GPathogenic
Select item 3123500	NM_005885.4(MARCHF6):c.214C>T (p.Arg72Trp)	MARCHF6 (R72W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3123505	NM_005885.4(MARCHF6):c.272G>A (p.Arg91Gln)	MARCHF6 (R91Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3123506	NM_005885.4(MARCHF6):c.347A>G (p.Lys116Arg)	MARCHF6 (K11R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3123507	NM_005885.4(MARCHF6):c.383C>T (p.Thr128Met)	MARCHF6 (T80M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2545014	NM_005885.4(MARCHF6):c.394G>A (p.Asp132Asn)	MARCHF6 (D27N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2614624	NM_005885.4(MARCHF6):c.428G>C (p.Cys143Ser)	MARCHF6 (C143S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3123508	NM_005885.4(MARCHF6):c.452C>T (p.Thr151Met)	MARCHF6 (T46M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3123509	NM_005885.4(MARCHF6):c.481G>C (p.Val161Leu)	MARCHF6 (V161L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3123510	NM_005885.4(MARCHF6):c.499A>G (p.Ile167Val)	MARCHF6 (I167V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3123511	NM_005885.4(MARCHF6):c.545C>T (p.Pro182Leu)	MARCHF6 (P77L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3065753	NM_005885.4(MARCHF6):c.674A>G (p.Gln225Arg)	MARCHF6 (Q120R +2 more)	Single nucleotide variant (missense variant)	Epilepsy, familial adult myoclonic, 3	GUncertain significance
Select item 3123512	NM_005885.4(MARCHF6):c.675G>C (p.Gln225His)	MARCHF6 (Q225H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1696602	NM_005885.4(MARCHF6):c.914-8C>G	MARCHF6	Single nucleotide variant (intron variant)	Epilepsy, familial adult myoclonic, 3	GUncertain significance
Select item 3123513	NM_005885.4(MARCHF6):c.976C>A (p.Gln326Lys)	MARCHF6 (Q221K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3123497	NM_005885.4(MARCHF6):c.1660C>G (p.Arg554Gly)	MARCHF6 (R449G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2521606	NM_005885.4(MARCHF6):c.1676C>T (p.Thr559Ile)	MARCHF6 (T454I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3123498	NM_005885.4(MARCHF6):c.1870C>T (p.Arg624Cys)	MARCHF6 (R519C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3048843	NM_005885.4(MARCHF6):c.2084T>C (p.Met695Thr)	MARCHF6 (M590T +2 more)	Single nucleotide variant (missense variant)	MARCHF6-related disorder	GLikely benign
Select item 3123499	NM_005885.4(MARCHF6):c.2137T>C (p.Trp713Arg)	MARCHF6 (W608R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2477692	NM_005885.4(MARCHF6):c.2141C>T (p.Ser714Phe)	MARCHF6 (S666F +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2554204	NM_005885.4(MARCHF6):c.2168T>C (p.Val723Ala)	MARCHF6 (V675A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3123501	NM_005885.4(MARCHF6):c.2380G>A (p.Ala794Thr)	MARCHF6 (A746T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3123502	NM_005885.4(MARCHF6):c.2492T>G (p.Val831Gly)	MARCHF6 (V831G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2471655	NM_005885.4(MARCHF6):c.2500T>G (p.Leu834Val)	MARCHF6 (L834V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1049047	NM_005885.4(MARCHF6):c.2516C>T (p.Ala839Val)	MARCHF6 (A734V +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3123503	NM_005885.4(MARCHF6):c.2603G>A (p.Arg868His)	MARCHF6 (R820H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3123504	NM_005885.4(MARCHF6):c.2678G>A (p.Arg893Gln)	MARCHF6 (R893Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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Items: 29