ClinVar for MedGen (Select 934607) - ClinVar

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Items: 21

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3065329	NM_014994.3(MAPKBP1):c.2227C>T (p.Gln743Ter)	MAPKBP1 (Q743* +1 more)	Single nucleotide variant (nonsense +1 more)	Nephronophthisis 20	GLikely pathogenic
Select item 2582421	NM_014994.3(MAPKBP1):c.260A>G (p.Asn87Ser)	MAPKBP1 (N87S)	Single nucleotide variant (missense variant +1 more)	Nephronophthisis 20	GUncertain significance
Select item 1805864	NM_014994.3(MAPKBP1):c.1426A>G (p.Ile476Val)	MAPKBP1 (I476V +1 more)	Single nucleotide variant (missense variant +1 more)	Nephronophthisis 20	GUncertain significance
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 1462825	NM_014994.3(MAPKBP1):c.227A>G (p.Asn76Ser)	MAPKBP1 (N76S)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1032648	NM_014994.3(MAPKBP1):c.97G>C (p.Glu33Gln)	MAPKBP1 (E33Q)	Single nucleotide variant (missense variant +1 more)	Nephronophthisis 20	GUncertain significance
Select item 1032647	NM_014994.3(MAPKBP1):c.3998G>C (p.Ser1333Thr)	MAPKBP1 (S1339T +1 more)	Single nucleotide variant (missense variant +2 more)	Nephronophthisis 20	GUncertain significance
Select item 1032645	NM_014994.3(MAPKBP1):c.1585+15C>T	MAPKBP1	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1030173	NM_014994.3(MAPKBP1):c.3662C>T (p.Ala1221Val)	MAPKBP1 (A1221V +1 more)	Single nucleotide variant (missense variant +2 more)	Nephronophthisis 20	GUncertain significance
Select item 1030172	NM_014994.3(MAPKBP1):c.2230C>T (p.Arg744Cys)	MAPKBP1 (R744C +1 more)	Single nucleotide variant (missense variant +1 more)	Nephronophthisis 20	GUncertain significance
Select item 917948	NM_014994.3(MAPKBP1):c.3304C>T (p.Arg1102Cys)	MAPKBP1 (R1102C +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 800821	NM_014994.3(MAPKBP1):c.934C>T (p.Arg312Ter)	MAPKBP1 (R318* +1 more)	Single nucleotide variant (nonsense +1 more)	Nephronophthisis 20	GLikely pathogenic
Select item 790281	NM_014994.3(MAPKBP1):c.2236C>T (p.Arg746Trp)	MAPKBP1 (R752W +1 more)	Single nucleotide variant (missense variant +1 more)	Nephronophthisis 20 +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)	not provided +1 more	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 +1 more	GBenign
Select item 374920	NM_014994.3(MAPKBP1):c.2809C>T (p.Gln937Ter)	MAPKBP1 (Q943* +1 more)	Single nucleotide variant (nonsense +1 more)	Nephronophthisis 20	GPathogenic
Select item 374919	NM_014994.3(MAPKBP1):c.2426-1G>A	MAPKBP1	Single nucleotide variant (splice acceptor variant)	Nephronophthisis 20	GPathogenic
Select item 374918	NM_014994.3(MAPKBP1):c.1613G>A (p.Arg538Gln)	MAPKBP1 (R544Q +1 more)	Single nucleotide variant (missense variant +1 more)	Nephronophthisis 20	GPathogenic
Select item 374917	NM_014994.3(MAPKBP1):c.1300C>T (p.Arg434Ter)	MAPKBP1 (R440* +1 more)	Single nucleotide variant (nonsense +1 more)	Nephronophthisis 20	GPathogenic
Select item 374916	NM_014994.3(MAPKBP1):c.4375C>T (p.Arg1459Ter)	MAPKBP1 (R1465* +2 more)	Single nucleotide variant (nonsense +1 more)	Nephronophthisis 20	GPathogenic
Select item 374915	NM_014994.3(MAPKBP1):c.592C>T (p.Arg198Ter)	MAPKBP1 (R198*)	Single nucleotide variant (nonsense +1 more)	Nephronophthisis 20	GPathogenic

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Items: 21