"Labcorp Genetics (formerly Invitae), Labcorp"[submitter] AND "PIP5K1C - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 37

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 735191	NM_012398.3(PIP5K1C):c.1995G>A (p.Glu665=)	PIP5K1C	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 730727	NM_012398.3(PIP5K1C):c.1986C>T (p.Ser662=)	PIP5K1C	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
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 762462	NM_012398.3(PIP5K1C):c.1974C>G (p.Ala658=)	PIP5K1C	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely 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 731418	NM_012398.3(PIP5K1C):c.1863C>T (p.Gly621=)	PIP5K1C	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 750540	NM_012398.3(PIP5K1C):c.1787+8C>T	PIP5K1C	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 756566	NM_012398.3(PIP5K1C):c.1785A>T (p.Ala595=)	PIP5K1C	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 722420	NM_012398.3(PIP5K1C):c.1752C>T (p.Ser584=)	PIP5K1C	Single nucleotide variant (synonymous variant)	not provided	GBenign
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 722421	NM_012398.3(PIP5K1C):c.1703C>T (p.Ala568Val)	PIP5K1C (A568V)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 769944	NM_012398.3(PIP5K1C):c.1698A>G (p.Pro566=)	PIP5K1C	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 728058	NM_012398.3(PIP5K1C):c.1536G>A (p.Thr512=)	PIP5K1C	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 708268	NM_012398.3(PIP5K1C):c.1506C>T (p.Asp502=)	PIP5K1C	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 777364	NM_012398.3(PIP5K1C):c.1479G>A (p.Gly493=)	PIP5K1C	Single nucleotide variant (synonymous variant)	not provided	GBenign
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 777365	NM_012398.3(PIP5K1C):c.1378G>A (p.Gly460Ser)	PIP5K1C (G460S)	Single nucleotide variant (missense variant)	not provided	GBenign/Likely benign
Select item 719783	NM_012398.3(PIP5K1C):c.1345+9C>T	PIP5K1C	Single nucleotide variant (intron variant)	not provided	GBenign/Likely benign
Select item 749411	NM_012398.3(PIP5K1C):c.1212-10C>G	PIP5K1C	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 773076	NM_012398.3(PIP5K1C):c.1157G>A (p.Arg386His)	PIP5K1C (R386H)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 743760	NM_012398.3(PIP5K1C):c.1095C>T (p.Ala365=)	PIP5K1C	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 720932	NM_012398.3(PIP5K1C):c.987C>T (p.His329=)	PIP5K1C	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 781377	NM_012398.3(PIP5K1C):c.922-6C>T	PIP5K1C	Single nucleotide variant (intron variant)	not provided	GBenign/Likely benign
Select item 744323	NM_012398.3(PIP5K1C):c.663T>C (p.Tyr221=)	PIP5K1C	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 782921	NM_012398.3(PIP5K1C):c.622-6C>T	PIP5K1C	Single nucleotide variant (intron variant)	not provided	GBenign/Likely benign
Select item 780501	NM_012398.3(PIP5K1C):c.567C>T (p.Thr189=)	PIP5K1C	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 742837	NM_012398.3(PIP5K1C):c.549C>T (p.Asp183=)	PIP5K1C	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 769945	NM_012398.3(PIP5K1C):c.372C>T (p.Pro124=)	PIP5K1C	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 796905	NM_012398.3(PIP5K1C):c.351-4A>G	PIP5K1C	Single nucleotide variant (intron variant)	not provided	GLikely 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 796608	NM_012398.3(PIP5K1C):c.246C>T (p.Ala82=)	PIP5K1C	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 782165	NM_012398.3(PIP5K1C):c.234C>T (p.Thr78=)	PIP5K1C	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 769946	NM_012398.3(PIP5K1C):c.15A>G (p.Val5=)	PIP5K1C	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 3248515	NC_000019.9:g.(?_2430909)_(4171966_?)del	APBA3, ATCAY +42 more	Deletion	RASopathy	GUncertain significance
Select item 2445494	NC_000019.9:g.(?_1206913)_(3771740_?)dup	ABHD17A, ADAMTSL5 +80 more	Duplication	not provided	GUncertain significance
Select item 2425228	NC_000019.9:g.(?_589946)_(5696788_?)dup	TLE5, TLE6 +151 more	Duplication	not provided	GUncertain significance
Select item 2423454	NC_000019.9:g.(?_589946)_(4818389_?)dup	ABCA7, ABHD17A +138 more	Duplication	not provided	GUncertain significance

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 37