BORCS8-MEF2B[gene] - ClinVar

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Items: 40

	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 3134786	NM_001145784.2(BORCS8):c.320G>T (p.Gly107Val)	BORCS8, BORCS8-MEF2B (G107V)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2318686	NM_001145784.2(BORCS8):c.292C>T (p.Arg98Trp)	BORCS8, BORCS8-MEF2B (R98W)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2522142	NM_001145784.2(BORCS8):c.259G>A (p.Val87Met)	BORCS8, BORCS8-MEF2B (V87M)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3134785	NM_001145784.2(BORCS8):c.254G>T (p.Arg85Leu)	BORCS8, BORCS8-MEF2B (R85L)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2515750	NM_001145784.2(BORCS8):c.254G>A (p.Arg85His)	BORCS8, BORCS8-MEF2B (R85H)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2210862	NM_001145784.2(BORCS8):c.244G>A (p.Val82Ile)	BORCS8, BORCS8-MEF2B (V82I)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2299127	NM_001145784.2(BORCS8):c.220G>A (p.Val74Met)	BORCS8, BORCS8-MEF2B (V74M)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3134784	NM_001145784.2(BORCS8):c.163C>T (p.Arg55Cys)	BORCS8, BORCS8-MEF2B (R55C)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 2598081	NM_001145784.2(BORCS8):c.157A>G (p.Met53Val)	BORCS8, BORCS8-MEF2B (M53V)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 2251570	NM_001145784.2(BORCS8):c.119G>A (p.Arg40His)	BORCS8, BORCS8-MEF2B (R40H)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 2233462	NM_001145784.2(BORCS8):c.88G>A (p.Val30Met)	BORCS8, BORCS8-MEF2B (V30M)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 2411527	NM_001145784.2(BORCS8):c.85T>C (p.Ser29Pro)	BORCS8, BORCS8-MEF2B (S29P)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 2284294	NM_001145784.2(BORCS8):c.79G>A (p.Glu27Lys)	BORCS8, BORCS8-MEF2B (E27K)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 2246455	NM_001145784.2(BORCS8):c.74C>G (p.Ala25Gly)	BORCS8, BORCS8-MEF2B (A25G)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 2560275	NM_001145784.2(BORCS8):c.59G>A (p.Ser20Asn)	BORCS8, BORCS8-MEF2B (S20N)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 2464015	NM_001145784.2(BORCS8):c.11C>T (p.Pro4Leu)	BORCS8, BORCS8-MEF2B (P4L)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance

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Items: 40