Related gene-specific medical variations for Gene (Select 79018) - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3281359	NM_024052.5(GID4):c.146G>T (p.Arg49Leu)	GID4, LOC130060413 (R49L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3099752	NM_024052.5(GID4):c.85C>T (p.Pro29Ser)	GID4, LOC130060413 (P29S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3099750	NM_024052.5(GID4):c.103A>G (p.Arg35Gly)	GID4, LOC130060413 (R35G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2623707	NM_024052.5(GID4):c.52C>T (p.Pro18Ser)	GID4, LOC130060413 (P18S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2615363	NM_024052.5(GID4):c.220C>T (p.Pro74Ser)	GID4, LOC130060413 (P74S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2539694	NM_024052.5(GID4):c.214C>T (p.Pro72Ser)	GID4, LOC130060413 (P72S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2469816	NM_024052.5(GID4):c.373G>A (p.Gly125Ser)	GID4, LOC130060413 (G125S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2344957	NM_024052.5(GID4):c.88G>A (p.Glu30Lys)	GID4, LOC130060413 (E30K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2249911	NM_024052.5(GID4):c.107A>C (p.Gln36Pro)	GID4, LOC130060413 (Q36P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2213804	NM_024052.5(GID4):c.64G>T (p.Val22Phe)	GID4, LOC130060413 (V22F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1190805	NM_024052.5(GID4):c.-39G>A	ATPAF2, GID4 +1 more	Single nucleotide variant (5 prime UTR variant)	not provided	GLikely benign