"CeGaT Center for Human Genetics Tuebingen"[submitter] AND "PIP5K1C"[g - ClinVar - NCBI

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Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 708469	NM_012398.3(PIP5K1C):c.1975C>T (p.Pro659Ser)	PIP5K1C (P659S)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign/Likely benign
Select item 716239	NM_012398.3(PIP5K1C):c.1966G>A (p.Ala656Thr)	PIP5K1C (A656T)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign/Likely benign
Select item 2649003	NM_012398.3(PIP5K1C):c.1920+1426G>A	PIP5K1C	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2649004	NM_012398.3(PIP5K1C):c.1920+1372C>T	PIP5K1C	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2649005	NM_012398.3(PIP5K1C):c.1854C>T (p.Asp618=)	PIP5K1C	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 778806	NM_012398.3(PIP5K1C):c.1746G>A (p.Ala582=)	PIP5K1C	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 715835	NM_012398.3(PIP5K1C):c.1416C>T (p.Thr472=)	PIP5K1C	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 871901	NM_012398.3(PIP5K1C):c.1127+1G>A	PIP5K1C	Single nucleotide variant (splice donor variant)	not provided	GPathogenic
Select item 871902	NM_012398.3(PIP5K1C):c.688_689del (p.Gly230fs)	PIP5K1C (G230fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 782921	NM_012398.3(PIP5K1C):c.622-6C>T	PIP5K1C	Single nucleotide variant (intron variant)	not provided	GBenign/Likely benign
Select item 787568	NM_012398.3(PIP5K1C):c.303C>T (p.Asp101=)	PIP5K1C	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 2672735	NM_012398.3(PIP5K1C):c.270C>T (p.Thr90=)	PIP5K1C	Single nucleotide variant (synonymous variant)	not provided	GLikely benign