"PreventionGenetics, part of Exact Sciences"[submitter] AND "PRICKLE2" - ClinVar - NCBI

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

Search results

Items: 8

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3040573	NM_198859.4(PRICKLE2):c.2204G>C (p.Ser735Thr)	PRICKLE2, PRICKLE2-AS1 (S735T)	Single nucleotide variant (non-coding transcript variant +1 more)	PRICKLE2-related disorder	GUncertain significance
Select item 198931	NM_198859.4(PRICKLE2):c.2191A>G (p.Ser731Gly)	PRICKLE2, PRICKLE2-AS1 (S731G)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 130032	NM_198859.4(PRICKLE2):c.1551G>A (p.Gln517=)	PRICKLE2	Single nucleotide variant (synonymous variant)	PRICKLE2-related disorder +2 more	GBenign
Select item 448121	NM_198859.4(PRICKLE2):c.1527G>A (p.Glu509=)	PRICKLE2	Single nucleotide variant (synonymous variant)	PRICKLE2-related disorder +4 more	GBenign/Likely benign
Select item 2151822	NM_198859.4(PRICKLE2):c.1120C>T (p.Leu374=)	PRICKLE2	Single nucleotide variant (synonymous variant)	PRICKLE2-related disorder +1 more	GLikely benign
Select item 707149	NM_198859.4(PRICKLE2):c.972C>T (p.Ser324=)	PRICKLE2	Single nucleotide variant (synonymous variant)	PRICKLE2-related disorder +1 more	GLikely benign
Select item 478006	NM_198859.4(PRICKLE2):c.438G>A (p.Ala146=)	PRICKLE2	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign/Likely benign
Select item 3057513	NM_198859.4(PRICKLE2):c.120C>T (p.Val40=)	PRICKLE2, PRICKLE2-AS3	Single nucleotide variant (non-coding transcript variant +1 more)	PRICKLE2-related disorder	GLikely benign