"GeneDx"[submitter] AND "MAPKBP1"[gene] - ClinVar

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Items: 22

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1284119	NM_014994.3(MAPKBP1):c.207-145_207-144del	MAPKBP1	Deletion (intron variant)	not provided	GBenign
Select item 1282069	NM_014994.3(MAPKBP1):c.207-149_207-144del	MAPKBP1	Deletion (intron variant)	not provided	GBenign
Select item 1297946	NM_014994.3(MAPKBP1):c.327+123C>T	MAPKBP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1243285	NM_014994.3(MAPKBP1):c.636+65G>A	MAPKBP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1265041	NM_014994.3(MAPKBP1):c.919C>G (p.Leu307Val)	MAPKBP1 (L307V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 1247647	NM_014994.3(MAPKBP1):c.1170+132G>T	MAPKBP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1278326	NM_014994.3(MAPKBP1):c.1586-32C>T	MAPKBP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1261030	NM_014994.3(MAPKBP1):c.1701T>C (p.Val567=)	MAPKBP1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 1493095	NM_014994.3(MAPKBP1):c.1711+5G>A	MAPKBP1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1253053	NM_014994.3(MAPKBP1):c.1904+42T>G	MAPKBP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1182734	NM_014994.3(MAPKBP1):c.2291+143C>G	MAPKBP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1282369	NM_014994.3(MAPKBP1):c.2426-40_2426-39insC	MAPKBP1	Insertion (intron variant)	not provided	GBenign
Select item 1235461	NM_014994.3(MAPKBP1):c.2481+85G>A	MAPKBP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1266778	NM_014994.3(MAPKBP1):c.2482-235T>C	MAPKBP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2498002	NM_014994.3(MAPKBP1):c.2762A>G (p.Tyr921Cys)	MAPKBP1 (Y921C +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1183139	NM_014994.3(MAPKBP1):c.3032-9C>T	MAPKBP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 769876	NM_014994.3(MAPKBP1):c.3229+3G>A	MAPKBP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1251720	NM_014994.3(MAPKBP1):c.3315-118C>T	MAPKBP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1258713	NM_014994.3(MAPKBP1):c.3598+6A>G	MAPKBP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1248343	NM_014994.3(MAPKBP1):c.3701G>C (p.Arg1234Pro)	MAPKBP1 (R1234P +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GBenign
Select item 1226756	NM_014994.3(MAPKBP1):c.4299+136T>C	MAPKBP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1288448	NM_014994.3(MAPKBP1):c.*149G>C	MAPKBP1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign

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Items: 22