"MIPEP-related disorder"[Disease/phenotype] AND "PreventionGenetics, p - ClinVar - NCBI

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Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3054196	NM_005932.4(MIPEP):c.1923C>G (p.Val641=)	MIPEP	Single nucleotide variant (synonymous variant)	MIPEP-related disorder	GLikely benign
Select item 3058795	NM_005932.4(MIPEP):c.1833A>G (p.Pro611=)	MIPEP	Single nucleotide variant (synonymous variant)	MIPEP-related disorder	GLikely benign
Select item 787407	NM_005932.4(MIPEP):c.1774C>T (p.Leu592=)	MIPEP	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 787408	NM_005932.4(MIPEP):c.1654-3A>G	MIPEP	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 739826	NM_005932.4(MIPEP):c.1544-7G>C	MIPEP	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 1228884	NM_005932.4(MIPEP):c.1019G>A (p.Arg340Gln)	MIPEP (R340Q)	Single nucleotide variant (missense variant)	MIPEP-related disorder +1 more	GBenign
Select item 3043660	NM_005932.4(MIPEP):c.944-7G>A	MIPEP	Single nucleotide variant (intron variant)	MIPEP-related disorder	GLikely benign
Select item 1584733	NM_005932.4(MIPEP):c.862A>C (p.Ser288Arg)	MIPEP (S288R)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 2170188	NM_005932.4(MIPEP):c.684G>A (p.Lys228=)	MIPEP	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 721640	NM_005932.4(MIPEP):c.280C>T (p.Arg94Cys)	MIPEP (R94C)	Single nucleotide variant (missense variant)	MIPEP-related disorder +1 more	GBenign/Likely benign
Select item 709907	NM_005932.4(MIPEP):c.184C>T (p.Arg62Cys)	MIPEP, PCOTH (R62C)	Single nucleotide variant (missense variant +1 more)	MIPEP-related disorder +1 more	GLikely benign
Select item 2715262	NM_005932.4(MIPEP):c.15A>C (p.Gly5=)	MIPEP, PCOTH	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign