"PreventionGenetics, part of Exact Sciences"[submitter] AND "PDSS2"[ge - ClinVar - NCBI

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Items: 17

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 261251	NM_020381.4(PDSS2):c.1149G>A (p.Glu383=)	PDSS2	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign/Likely benign
Select item 214989	NM_020381.4(PDSS2):c.1046G>A (p.Arg349Gln)	PDSS2 (R349Q)	Single nucleotide variant (missense variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 2059985	NM_020381.4(PDSS2):c.1009-9_1009-7del	PDSS2	Microsatellite (intron variant)	not provided +1 more	GLikely benign
Select item 1496856	NM_020381.4(PDSS2):c.908A>G (p.Glu303Gly)	PDSS2 (E303G)	Single nucleotide variant (missense variant)	Kidney disorder +3 more	GUncertain significance
Select item 261254	NM_020381.4(PDSS2):c.876+6T>C	PDSS2	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 2170159	NM_020381.4(PDSS2):c.702+9T>C	PDSS2	Single nucleotide variant (intron variant)	PDSS2-related disorder +1 more	GLikely benign
Select item 214987	NM_020381.4(PDSS2):c.667G>A (p.Val223Ile)	PDSS2 (V223I)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 261253	NM_020381.4(PDSS2):c.552A>C (p.Gly184=)	PDSS2	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign/Likely benign
Select item 1393446	NM_020381.4(PDSS2):c.376A>G (p.Ser126Gly)	PDSS2 (S126G)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1648008	NM_020381.4(PDSS2):c.357C>T (p.Ile119=)	PDSS2	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 261252	NM_020381.4(PDSS2):c.348G>T (p.Val116=)	PDSS2	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 1592137	NM_020381.4(PDSS2):c.162A>G (p.Ser54=)	PDSS2	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1593256	NM_020381.4(PDSS2):c.93C>T (p.Thr31=)	PDSS2	Single nucleotide variant (synonymous variant)	PDSS2-related disorder +1 more	GLikely benign
Select item 261255	NM_020381.4(PDSS2):c.93C>G (p.Thr31=)	PDSS2	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 138690	NM_020381.4(PDSS2):c.11G>C (p.Arg4Pro)	PDSS2 (R4P)	Single nucleotide variant (missense variant)	Kidney disorder +2 more	GBenign
Select item 138689	NM_020381.4(PDSS2):c.7T>C (p.Phe3Leu)	PDSS2 (F3L)	Single nucleotide variant (missense variant)	Kidney disorder +2 more	GBenign
Select item 729152	NM_020381.4(PDSS2):c.4A>C (p.Asn2His)	PDSS2 (N2H)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign