Related gene-specific medical variations for Gene (Select 51074) - ClinVar - NCBI

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Items: 15

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3127824	NM_015957.4(APIP):c.26G>C (p.Gly9Ala)	APIP, LOC130005547 +1 more (G9A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1329013	NM_015957.4(APIP):c.-95G>C	PDHX, APIP +1 more	Single nucleotide variant (5 prime UTR variant)	not specified	GUncertain significance
Select item 1252351	NM_015957.4(APIP):c.57+174T>A	APIP, LOC130005547 +1 more	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 880153	NM_015957.4(APIP):c.57+91G>T	APIP, LOC130005547 +1 more	Single nucleotide variant (intron variant)	Pyruvate dehydrogenase E3-binding protein deficiency	GLikely benign
Select item 877365	NM_015957.4(APIP):c.-30T>C	APIP, LOC130005547 +1 more	Single nucleotide variant (5 prime UTR variant)	Pyruvate dehydrogenase E3-binding protein deficiency	GLikely benign
Select item 877364	NM_015957.4(APIP):c.57+57C>G	APIP, LOC130005547 +1 more	Single nucleotide variant (intron variant)	Pyruvate dehydrogenase E3-binding protein deficiency	GUncertain significance
Select item 683422	NM_015957.4(APIP):c.57+289C>G	APIP, PDHX	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 304450	NM_015957.4(APIP):c.-70T>C	APIP, LOC130005547 +1 more	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GBenign
Select item 304449	NM_015957.4(APIP):c.-53C>T	APIP, LOC130005547 +1 more	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GBenign
Select item 304448	NM_015957.4(APIP):c.-18G>A	APIP, LOC130005547 +1 more	Single nucleotide variant (5 prime UTR variant)	Pyruvate dehydrogenase E3-binding protein deficiency	GUncertain significance
Select item 304447	NM_015957.4(APIP):c.-14C>T	APIP, LOC130005547 +1 more	Single nucleotide variant (5 prime UTR variant)	Pyruvate dehydrogenase E3-binding protein deficiency	GUncertain significance
Select item 304446	NM_015957.4(APIP):c.-1C>T	APIP, LOC130005547 +1 more	Single nucleotide variant (5 prime UTR variant)	Pyruvate dehydrogenase E3-binding protein deficiency	GUncertain significance
Select item 304445	NM_015957.4(APIP):c.19C>T (p.Arg7Trp)	APIP, LOC130005547 +1 more (R7W)	Single nucleotide variant (missense variant)	Pyruvate dehydrogenase E3-binding protein deficiency +1 more	GBenign
Select item 304444	NM_015957.4(APIP):c.57+77C>T	APIP, LOC130005547 +1 more	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 304443	NM_015957.4(APIP):c.57+78A>G	APIP, LOC130005547 +1 more	Single nucleotide variant (intron variant)	Pyruvate dehydrogenase E3-binding protein deficiency +1 more	GBenign