"PreventionGenetics, part of Exact Sciences"[submitter] AND "PIP5K1C"[ - ClinVar - NCBI

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Items: 14

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3052505	NM_012398.3(PIP5K1C):c.*6A>G	PIP5K1C	Single nucleotide variant (3 prime UTR variant)	PIP5K1C-related disorder	GLikely benign
Select item 3045610	NM_012398.3(PIP5K1C):c.1920+1430G>C	PIP5K1C (A694P)	Single nucleotide variant (missense variant +1 more)	PIP5K1C-related disorder	GLikely benign
Select item 3059157	NM_012398.3(PIP5K1C):c.1920+1422G>T	PIP5K1C (R691L)	Single nucleotide variant (missense variant +1 more)	PIP5K1C-related disorder	GBenign
Select item 3040219	NM_012398.3(PIP5K1C):c.1920+1411C>T	PIP5K1C	Single nucleotide variant (synonymous variant +1 more)	PIP5K1C-related disorder	GBenign
Select item 3051894	NM_012398.3(PIP5K1C):c.1920+1330G>C	PIP5K1C	Single nucleotide variant (synonymous variant +1 more)	PIP5K1C-related disorder	GLikely benign
Select item 3042074	NM_012398.3(PIP5K1C):c.1884G>A (p.Ser628=)	PIP5K1C	Single nucleotide variant (synonymous variant)	PIP5K1C-related disorder	GLikely benign
Select item 731418	NM_012398.3(PIP5K1C):c.1863C>T (p.Gly621=)	PIP5K1C	Single nucleotide variant (synonymous variant)	PIP5K1C-related disorder +1 more	GBenign/Likely benign
Select item 3050718	NM_012398.3(PIP5K1C):c.1807G>A (p.Gly603Ser)	PIP5K1C (G603S)	Single nucleotide variant (missense variant)	PIP5K1C-related disorder	GBenign
Select item 3047026	NM_012398.3(PIP5K1C):c.1803G>A (p.Pro601=)	PIP5K1C	Single nucleotide variant (synonymous variant)	PIP5K1C-related disorder	GLikely benign
Select item 722420	NM_012398.3(PIP5K1C):c.1752C>T (p.Ser584=)	PIP5K1C	Single nucleotide variant (synonymous variant)	PIP5K1C-related disorder +1 more	GBenign/Likely benign
Select item 3046981	NM_012398.3(PIP5K1C):c.1113C>T (p.Ile371=)	PIP5K1C	Single nucleotide variant (synonymous variant)	PIP5K1C-related disorder	GLikely benign
Select item 3052188	NM_012398.3(PIP5K1C):c.675C>T (p.Cys225=)	PIP5K1C	Single nucleotide variant (synonymous variant)	PIP5K1C-related disorder	GLikely benign
Select item 3035643	NM_012398.3(PIP5K1C):c.543C>T (p.Ser181=)	PIP5K1C	Single nucleotide variant (synonymous variant)	PIP5K1C-related disorder	GLikely benign
Select item 3039197	NM_012398.3(PIP5K1C):c.350+8G>A	PIP5K1C	Single nucleotide variant (intron variant)	PIP5K1C-related disorder	GLikely benign