Related gene-specific medical variations for Gene (Select 8395) - ClinVar - NCBI

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Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3207798	NM_138333.5(PABIR1):c.745A>C (p.Ser249Arg)	PABIR1, PIP5K1B (S249R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3207797	NM_138333.5(PABIR1):c.718T>C (p.Ser240Pro)	PABIR1, PIP5K1B (S240P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3207796	NM_138333.5(PABIR1):c.47C>T (p.Thr16Met)	PABIR1, PIP5K1B (T16M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3207795	NM_138333.5(PABIR1):c.397T>A (p.Ser133Thr)	PABIR1, PIP5K1B (S133T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3207794	NM_138333.5(PABIR1):c.377A>G (p.Asn126Ser)	PABIR1, PIP5K1B (N126S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3207793	NM_138333.5(PABIR1):c.371G>C (p.Ser124Thr)	PABIR1, PIP5K1B (S124T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3207792	NM_138333.5(PABIR1):c.185G>A (p.Ser62Asn)	PABIR1, PIP5K1B (S62N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2600169	NM_138333.5(PABIR1):c.196C>T (p.Pro66Ser)	PABIR1, PIP5K1B (P66S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2527556	NM_138333.5(PABIR1):c.32A>G (p.Glu11Gly)	PABIR1, PIP5K1B (E11G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2518418	NM_138333.5(PABIR1):c.398C>G (p.Ser133Cys)	PABIR1, PIP5K1B (S133C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2482610	NM_138333.5(PABIR1):c.706G>T (p.Gly236Cys)	PABIR1, PIP5K1B (G236C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 770386	NM_138333.5(PABIR1):c.-68C>G	PABIR1, PIP5K1B	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign