"INPPL1-related disorder"[Disease/phenotype] AND "PreventionGenetics, - ClinVar - NCBI

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Items: 16

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1587943	NM_001567.4(INPPL1):c.129C>T (p.Ser43=)	INPPL1, LOC130006328	Single nucleotide variant (synonymous variant)	INPPL1-related disorder +1 more	GLikely benign
Select item 1902534	NM_001567.4(INPPL1):c.518+8C>A	INPPL1	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 2891775	NM_001567.4(INPPL1):c.518+9C>G	INPPL1	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 1142428	NM_001567.4(INPPL1):c.754-4C>G	INPPL1	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 3031115	NM_001567.4(INPPL1):c.1083C>T (p.His361=)	INPPL1	Single nucleotide variant (synonymous variant)	INPPL1-related disorder	GLikely benign
Select item 3036603	NM_001567.4(INPPL1):c.1257C>T (p.Asp419=)	INPPL1	Single nucleotide variant (synonymous variant)	INPPL1-related disorder	GLikely benign
Select item 717247	NM_001567.4(INPPL1):c.1278C>T (p.Val426=)	INPPL1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 787381	NM_001567.4(INPPL1):c.1343C>T (p.Ser448Leu)	INPPL1 (S448L)	Single nucleotide variant (missense variant)	INPPL1-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 3031613	NM_001567.4(INPPL1):c.1398C>A (p.Ile466=)	INPPL1	Single nucleotide variant (synonymous variant)	INPPL1-related disorder	GLikely benign
Select item 1552621	NM_001567.4(INPPL1):c.1431C>T (p.Gly477=)	INPPL1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1627403	NM_001567.4(INPPL1):c.1458C>T (p.Arg486=)	INPPL1	Single nucleotide variant (synonymous variant)	INPPL1-related disorder +1 more	GLikely benign
Select item 1538162	NM_001567.4(INPPL1):c.1497+7G>A	INPPL1	Single nucleotide variant (intron variant)	INPPL1-related disorder +1 more	GBenign/Likely benign
Select item 728602	NM_001567.4(INPPL1):c.1706C>T (p.Thr569Met)	INPPL1 (T569M)	Single nucleotide variant (missense variant)	INPPL1-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 1557662	NM_001567.4(INPPL1):c.2706C>G (p.Ala902=)	INPPL1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 3058675	NM_001567.4(INPPL1):c.3480G>A (p.Ser1160=)	INPPL1	Single nucleotide variant (synonymous variant)	INPPL1-related disorder	GLikely benign
Select item 724544	NM_001567.4(INPPL1):c.3585G>T (p.Gly1195=)	INPPL1	Single nucleotide variant (synonymous variant)	INPPL1-related disorder +1 more	GLikely benign