Related gene-specific medical variations for Gene (Select 125988) - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3126314	NM_205767.3(MICOS13):c.78C>A (p.Tyr26Ter)	LOC130063256, MICOS13 (Y26* +1 more)	Single nucleotide variant (nonsense)	Inborn genetic diseases	GLikely pathogenic
Select item 3032293	NM_205767.3(MICOS13):c.54T>A (p.Ala18=)	LOC130063256, MICOS13	Single nucleotide variant (synonymous variant)	MICOS13-related disorder	GLikely benign
Select item 3006557	NM_205767.3(MICOS13):c.147C>G (p.Pro49=)	LOC130063256, MICOS13	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2851815	NM_205767.3(MICOS13):c.50T>C (p.Val17Ala)	LOC130063256, MICOS13 (V17A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2710373	NM_205767.3(MICOS13):c.63C>T (p.Ala21=)	LOC130063256, MICOS13	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2007490	NM_205767.3(MICOS13):c.136G>A (p.Glu46Lys)	LOC130063256, MICOS13 (E46K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1948114	NM_205767.3(MICOS13):c.75G>A (p.Val25=)	LOC130063256, MICOS13	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1932086	NM_205767.3(MICOS13):c.29+19G>A	LOC130063259, MICOS13	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1698103	NM_205767.3(MICOS13):c.1A>G (p.Met1Val)	LOC130063260, MICOS13 (M1V)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GUncertain significance
Select item 1526386	NM_205767.3(MICOS13):c.150del (p.Ala51fs)	LOC130063256, MICOS13 (A51fs +1 more)	Deletion (frameshift variant)	not provided	GLikely pathogenic