C5193102[trait identifier] AND "Institute of Human Genetics, Universit - ClinVar - NCBI

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Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 632561	NM_001318852.2(MAPK8IP3):c.65del (p.Gly22fs)	MAPK8IP3 (G22fs)	Deletion (frameshift variant)	Neurodevelopmental disorder with or without variable brain abnormalities; NEDBA +1 more	GLikely pathogenic
Select item 805861	NM_001318852.2(MAPK8IP3):c.79G>T (p.Glu27Ter)	MAPK8IP3 (E27*)	Single nucleotide variant (nonsense)	Neurodevelopmental disorder with or without variable brain abnormalities; NEDBA	GLikely pathogenic
Select item 598741	NM_001318852.2(MAPK8IP3):c.111C>G (p.Tyr37Ter)	MAPK8IP3 (Y37*)	Single nucleotide variant (nonsense)	Neurodevelopmental disorder with or without variable brain abnormalities; NEDBA +1 more	GLikely pathogenic
Select item 916590	NM_001318852.2(MAPK8IP3):c.281A>G (p.Tyr94Cys)	LOC130058173, MAPK8IP3 (Y94C)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with or without variable brain abnormalities; NEDBA	GLikely pathogenic
Select item 805862	NM_001318852.2(MAPK8IP3):c.1201G>A (p.Gly401Arg)	MAPK8IP3 (G401R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 632563	NM_001318852.2(MAPK8IP3):c.1334T>C (p.Leu445Pro)	MAPK8IP3 (L444P +2 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with or without variable brain abnormalities; NEDBA	GLikely pathogenic
Select item 916591	NM_001318852.2(MAPK8IP3):c.1385A>G (p.Glu462Gly)	MAPK8IP3 (E455G +2 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with or without variable brain abnormalities; NEDBA +1 more	GLikely pathogenic
Select item 805863	NM_001318852.2(MAPK8IP3):c.1577G>A (p.Arg526Gln)	MAPK8IP3 (R525Q +2 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with or without variable brain abnormalities; NEDBA	GConflicting classifications of pathogenicity
Select item 632564	NM_001318852.2(MAPK8IP3):c.1735C>T (p.Arg579Cys)	MAPK8IP3 (R578C +2 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with or without variable brain abnormalities; NEDBA +2 more	GPathogenic/Likely pathogenic
Select item 805864	NM_001318852.2(MAPK8IP3):c.2985C>G (p.His995Gln)	MAPK8IP3 (H988Q +2 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with or without variable brain abnormalities; NEDBA	GConflicting classifications of pathogenicity
Select item 632565	NM_001318852.2(MAPK8IP3):c.3439C>T (p.Arg1147Cys)	MAPK8IP3 (R1146C +2 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with or without variable brain abnormalities; NEDBA +1 more	GPathogenic/Likely pathogenic
Select item 1679154	NM_001318852.2(MAPK8IP3):c.3469C>T (p.Arg1157Trp)	MAPK8IP3 (R1150W +2 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with or without variable brain abnormalities; NEDBA	GUncertain significance