Related gene-specific medical variations for Gene (Select 87769) - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 884190	NM_001195087.2(GGACT):c.*1873T>C	GGACT, PCCA	Single nucleotide variant (3 prime UTR variant +1 more)	Propionic acidemia	GUncertain significance
Select item 884189	NM_001195087.2(GGACT):c.*1930T>G	GGACT, PCCA	Single nucleotide variant (3 prime UTR variant +1 more)	Propionic acidemia	GUncertain significance
Select item 880903	NM_001195087.2(GGACT):c.*1741A>C	PCCA, GGACT	Single nucleotide variant (3 prime UTR variant +1 more)	Propionic acidemia	GUncertain significance
Select item 310858	NM_001195087.2(GGACT):c.*1774G>A	GGACT, PCCA	Single nucleotide variant (3 prime UTR variant +1 more)	Propionic acidemia	GUncertain significance
Select item 310857	NM_001195087.2(GGACT):c.*1774G>C	GGACT, PCCA	Single nucleotide variant (3 prime UTR variant +1 more)	Propionic acidemia	GUncertain significance
Select item 310856	NM_001195087.2(GGACT):c.*1805A>C	GGACT, PCCA	Single nucleotide variant (3 prime UTR variant +1 more)	Propionic acidemia	GLikely benign
Select item 310855	NM_001195087.2(GGACT):c.*1811dup	GGACT, PCCA	Duplication (3 prime UTR variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 310854	NM_001195087.2(GGACT):c.*1848C>T	GGACT, PCCA	Single nucleotide variant (3 prime UTR variant +1 more)	Propionic acidemia	GUncertain significance
Select item 310853	NM_001195087.2(GGACT):c.*1849G>A	GGACT, PCCA	Single nucleotide variant (3 prime UTR variant +1 more)	Propionic acidemia	GLikely benign
Select item 310852	NM_001195087.2(GGACT):c.1904_1907del	GGACT, PCCA	Deletion (3 prime UTR variant +1 more)	Propionic acidemia +1 more	GLikely benign