MEF2B[gene] - ClinVar

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Items: 33

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144406	GRCh38/hg38 19p13.2-q13.31(chr19:11227942-44626354)x3	ABHD8, ACP5 +2135 more	Copy number gain	See cases	GPathogenic
Select item 59114	GRCh38/hg38 19p13.12-q11(chr19:13974677-27839676)x3	ABHD8, ADGRE2 +695 more	Copy number gain	See cases	GPathogenic
Select item 147522	GRCh38/hg38 19p13.12-12(chr19:15133594-24193591)x3	ABHD8, AKAP8 +574 more	Copy number gain	See cases	GPathogenic
Select item 57042	GRCh38/hg38 19p13.11-q13.11(chr19:17176767-34924150)x3	LOC130064154, LOC130064155 +625 more	Copy number gain	See cases	GPathogenic
Select item 2358176	NM_005919.4(BORCS8-MEF2B):c.1087A>T (p.Thr363Ser)	BORCS8-MEF2B, MEF2B (T363S)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2549770	NM_005919.4(BORCS8-MEF2B):c.1064C>T (p.Ser355Phe)	BORCS8-MEF2B, MEF2B (S355F)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2209580	NM_005919.4(BORCS8-MEF2B):c.1054G>A (p.Asp352Asn)	BORCS8-MEF2B, MEF2B (D352N)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2249816	NM_005919.4(BORCS8-MEF2B):c.1043G>C (p.Arg348Thr)	BORCS8-MEF2B, MEF2B (R348T)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2599558	NM_005919.4(BORCS8-MEF2B):c.1034G>C (p.Gly345Ala)	BORCS8-MEF2B, MEF2B (G345A)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2455257	NM_005919.4(BORCS8-MEF2B):c.1028C>T (p.Ser343Leu)	BORCS8-MEF2B, MEF2B (S343L)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3134787	NM_005919.4(BORCS8-MEF2B):c.1019C>T (p.Pro340Leu)	BORCS8-MEF2B, MEF2B (P340L)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2383146	NM_005919.4(BORCS8-MEF2B):c.992G>A (p.Gly331Asp)	BORCS8-MEF2B, MEF2B (G331D)	Single nucleotide variant (synonymous variant +2 more)	not specified	GUncertain significance
Select item 2466748	NM_005919.4(BORCS8-MEF2B):c.923G>T (p.Gly308Val)	BORCS8-MEF2B, MEF2B (G308V)	Single nucleotide variant (synonymous variant +2 more)	not specified	GUncertain significance
Select item 2224372	NM_005919.4(BORCS8-MEF2B):c.881C>T (p.Ala294Val)	BORCS8-MEF2B, MEF2B (A294V)	Single nucleotide variant (synonymous variant +2 more)	not specified	GUncertain significance
Select item 3125105	NM_001145785.2(MEF2B):c.991G>A (p.Gly331Ser)	BORCS8-MEF2B, MEF2B (G331S)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2351119	NM_001145785.2(MEF2B):c.848G>T (p.Gly283Val)	BORCS8-MEF2B, MEF2B (G283V)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2527727	NM_001145785.2(MEF2B):c.781G>A (p.Gly261Arg)	BORCS8-MEF2B, MEF2B (G261R)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2528993	NM_005919.4(BORCS8-MEF2B):c.620G>A (p.Arg207Gln)	BORCS8-MEF2B, MEF2B (R207Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2293331	NM_005919.4(BORCS8-MEF2B):c.496C>T (p.Arg166Cys)	BORCS8-MEF2B, MEF2B (R166C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 788835	NM_001145785.2(MEF2B):c.453C>A (p.Gly151=)	BORCS8-MEF2B, MEF2B	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign/Likely benign
Select item 2380155	NM_005919.4(BORCS8-MEF2B):c.340C>T (p.Arg114Trp)	BORCS8-MEF2B, MEF2B (R114W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3134789	NM_005919.4(BORCS8-MEF2B):c.191G>A (p.Arg64His)	BORCS8-MEF2B, MEF2B (R64H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3257798	NM_005919.4(BORCS8-MEF2B):c.70C>T (p.Arg24Trp)	MEF2B, BORCS8-MEF2B (R24W)	Single nucleotide variant (missense variant +1 more)	Neoplasm	OUncertain significance
Select item 2308055	NM_005919.4(BORCS8-MEF2B):c.28C>T (p.Arg10Cys)	BORCS8-MEF2B, MEF2B (R10C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3062380	GRCh37/hg19 19p13.11-12(chr19:18926463-21100330)x1	ARMC6, ATP13A1 +36 more	Copy number loss	not specified	GUncertain significance
Select item 2425279	NC_000019.9:g.(?_17927663)_(19312528_?)dup	ISYNA1, JAK3 +44 more	Duplication	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1	GUncertain significance
Select item 1809253	GRCh37/hg19 19p13.11(chr19:19218464-19494045)x3	BORCS8, HAPLN4 +9 more	Copy number gain	not provided	GUncertain significance
Select item 1443735	NC_000019.9:g.(?_18893725)_(19312528_?)del	ARMC6, BORCS8 +13 more	Deletion	Progressive myoclonic epilepsy type 8	GUncertain significance
Select item 980194	GRCh37/hg19 19p13.12-12(chr19:14286624-20956753)x3	BST2, NWD1 +158 more	Copy number gain	not provided	GPathogenic
Select item 688890	GRCh37/hg19 19p13.11(chr19:19230490-19440304)x3	BORCS8, HAPLN4 +8 more	Copy number gain	not provided	GUncertain significance
Select item 443499	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)	PGLYRP1, PGLYRP2 +1364 more	Copy number gain	See cases	GPathogenic
Select item 443498	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3	TMC4, TMED1 +1364 more	Copy number gain	See cases	GPathogenic
Select item 221350	chr19:19230868-24115369 complex variant	ATP13A1, BORCS8 +49 more	Complex	Breast ductal adenocarcinoma	GUncertain significance

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Items: 33