"PreventionGenetics, part of Exact Sciences"[submitter] AND "MAPKBP1"[ - ClinVar

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Items: 31

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 794501	NM_014994.3(MAPKBP1):c.735G>A (p.Ala245=)	MAPKBP1	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 2057984	NM_014994.3(MAPKBP1):c.819+222C>T	MAPKBP1	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 718036	NM_014994.3(MAPKBP1):c.1156G>A (p.Val386Ile)	MAPKBP1 (V386I +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 1526225	NM_014994.3(MAPKBP1):c.1270_1271del (p.Ser424fs)	MAPKBP1 (S424fs +1 more)	Microsatellite (frameshift variant +1 more)	MAPKBP1-related disorder +1 more	GPathogenic/Likely pathogenic
Select item 733747	NM_014994.3(MAPKBP1):c.1420G>A (p.Val474Met)	MAPKBP1 (V480M +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 3041926	NM_014994.3(MAPKBP1):c.1461T>C (p.His487=)	MAPKBP1	Single nucleotide variant (synonymous variant +1 more)	MAPKBP1-related disorder	GLikely benign
Select item 716408	NM_014994.3(MAPKBP1):c.1531G>T (p.Val511Leu)	MAPKBP1 (V511L +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 758128	NM_014994.3(MAPKBP1):c.1641C>T (p.Ala547=)	MAPKBP1	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 3039810	NM_014994.3(MAPKBP1):c.1782+9G>A	MAPKBP1	Single nucleotide variant (intron variant)	MAPKBP1-related disorder	GLikely benign
Select item 2076843	NM_014994.3(MAPKBP1):c.1783-5T>C	MAPKBP1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 734191	NM_014994.3(MAPKBP1):c.1970C>T (p.Thr657Ile)	MAPKBP1 (T663I +1 more)	Single nucleotide variant (missense variant +1 more)	MAPKBP1-related disorder +2 more	GLikely benign
Select item 3044490	NM_014994.3(MAPKBP1):c.2156+1G>A	MAPKBP1	Single nucleotide variant (splice donor variant)	MAPKBP1-related disorder	GLikely pathogenic
Select item 785819	NM_014994.3(MAPKBP1):c.2156+3G>A	MAPKBP1	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 771004	NM_014994.3(MAPKBP1):c.2479C>T (p.Arg827Trp)	MAPKBP1 (R827W +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 3061676	NM_014994.3(MAPKBP1):c.2493C>G (p.Ser831=)	MAPKBP1	Single nucleotide variant (synonymous variant +1 more)	MAPKBP1-related disorder	GLikely benign
Select item 1599031	NM_014994.3(MAPKBP1):c.2497G>A (p.Gly833Arg)	MAPKBP1 (G833R +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 1336589	NM_014994.3(MAPKBP1):c.2519C>A (p.Ala840Glu)	MAPKBP1 (A840E +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 3058461	NM_014994.3(MAPKBP1):c.2920C>T (p.Leu974=)	MAPKBP1	Single nucleotide variant (synonymous variant +1 more)	MAPKBP1-related disorder	GLikely benign
Select item 721626	NM_014994.3(MAPKBP1):c.2942G>A (p.Ser981Asn)	MAPKBP1 (S981N +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 3061391	NM_014994.3(MAPKBP1):c.3108_3119del (p.Glu1038_Glu1041del)	MAPKBP1	Deletion (inframe deletion +1 more)	MAPKBP1-related disorder	GUncertain significance
Select item 778096	NM_014994.3(MAPKBP1):c.3330C>T (p.Ser1110=)	MAPKBP1	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 733613	NM_014994.3(MAPKBP1):c.3339C>T (p.Ser1113=)	MAPKBP1	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 3032346	NM_014994.3(MAPKBP1):c.3372A>T (p.Pro1124=)	MAPKBP1	Single nucleotide variant (synonymous variant +1 more)	MAPKBP1-related disorder	GLikely benign
Select item 2443170	NM_014994.3(MAPKBP1):c.3393G>A (p.Pro1131=)	MAPKBP1	Single nucleotide variant (synonymous variant +2 more)	MAPKBP1-related disorder +1 more	GBenign/Likely benign
Select item 2965356	NM_014994.3(MAPKBP1):c.3657C>T (p.Ile1219=)	MAPKBP1	Single nucleotide variant (synonymous variant +2 more)	MAPKBP1-related disorder +1 more	GLikely benign
Select item 3034281	NM_014994.3(MAPKBP1):c.3879C>T (p.Asp1293=)	MAPKBP1	Single nucleotide variant (synonymous variant +2 more)	MAPKBP1-related disorder	GLikely benign
Select item 728235	NM_014994.3(MAPKBP1):c.4030G>T (p.Gly1344Cys)	MAPKBP1 (G1350C +1 more)	Single nucleotide variant (missense variant +2 more)	not provided +2 more	GBenign
Select item 3043651	NM_014994.3(MAPKBP1):c.4246C>T (p.Leu1416=)	MAPKBP1	Single nucleotide variant (synonymous variant +1 more)	MAPKBP1-related disorder	GLikely benign
Select item 771910	NM_014994.3(MAPKBP1):c.4265G>A (p.Gly1422Asp)	MAPKBP1 (G1145D +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 734633	NM_014994.3(MAPKBP1):c.4312A>C (p.Lys1438Gln)	MAPKBP1 (K1161Q +2 more)	Single nucleotide variant (missense variant +1 more)	MAPKBP1-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 757412	NM_014994.3(MAPKBP1):c.4508G>A (p.Arg1503His)	MAPKBP1 (R1226H +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GLikely benign

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Items: 31