"MAPK8IP1-related disorder"[Disease/phenotype] AND "PreventionGenetics - ClinVar - NCBI

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Items: 5

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3051609	NM_005456.4(MAPK8IP1):c.-5C>T	LOC130005631, MAPK8IP1	Single nucleotide variant (5 prime UTR variant)	MAPK8IP1-related disorder	GLikely benign
Select item 3030822	NM_005456.4(MAPK8IP1):c.267C>T (p.Ala89=)	MAPK8IP1	Single nucleotide variant (synonymous variant)	MAPK8IP1-related disorder	GLikely benign
Select item 3031997	NM_005456.4(MAPK8IP1):c.375G>T (p.Gly125=)	MAPK8IP1	Single nucleotide variant (synonymous variant)	MAPK8IP1-related disorder	GLikely benign
Select item 3045870	NM_005456.4(MAPK8IP1):c.1020G>A (p.Ser340=)	MAPK8IP1	Single nucleotide variant (synonymous variant)	MAPK8IP1-related disorder	GLikely benign
Select item 3049905	NM_005456.4(MAPK8IP1):c.1057C>A (p.Arg353=)	MAPK8IP1	Single nucleotide variant (synonymous variant)	MAPK8IP1-related disorder	GLikely benign

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