"Eurofins Ntd Llc (ga)"[submitter] AND "PITX2"[gene] - ClinVar

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Items: 20

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 167472	NM_000325.6(PITX2):c.819G>A (p.Pro273=)	PITX2	Single nucleotide variant (synonymous variant)	Anterior segment dysgenesis 1 +8 more	GBenign/Likely benign
Select item 96521	NM_000325.6(PITX2):c.812A>T (p.Tyr271Phe)	PITX2 (Y218F +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 283383	NM_000325.6(PITX2):c.639A>T (p.Ser213=)	PITX2	Single nucleotide variant (synonymous variant)	Axenfeld-Rieger syndrome type 1 +9 more	GConflicting classifications of pathogenicity
Select item 197884	NM_000325.6(PITX2):c.562G>A (p.Ala188Thr)	PITX2 (A135T +2 more)	Single nucleotide variant (missense variant)	Cataract +9 more	GBenign/Likely benign
Select item 197883	NM_000325.6(PITX2):c.431G>A (p.Arg144Gln)	PITX2 (R91Q +2 more)	Single nucleotide variant (missense variant)	Axenfeld-Rieger syndrome type 1 +2 more	GConflicting classifications of pathogenicity
Select item 596328	NM_000325.6(PITX2):c.273G>A (p.Arg91=)	PITX2	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 501979	NM_000325.6(PITX2):c.215A>G (p.Lys72Arg)	PITX2 (K19R +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 474012	NM_000325.6(PITX2):c.206-9C>T	PITX2	Single nucleotide variant (intron variant)	not provided +3 more	GBenign/Likely benign
Select item 501061	NM_000325.6(PITX2):c.160C>T (p.Leu54=)	PITX2	Single nucleotide variant (synonymous variant +1 more)	not provided	GUncertain significance
Select item 288932	NM_000325.6(PITX2):c.63C>T (p.Ala21=)	PITX2	Single nucleotide variant (synonymous variant +1 more)	not specified +1 more	GBenign
Select item 193084	NM_000325.6(PITX2):c.17G>T (p.Gly6Val)	PITX2 (G6V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 501397	NM_153426.3(PITX2):c.184+8C>A	PITX2	Single nucleotide variant (intron variant)	PITX2-related condition +1 more	GLikely benign
Select item 281515	NM_153427.3(PITX2):c.46+485C>T	PITX2 (A20V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 598660	NM_153427.3(PITX2):c.46+475G>A	PITX2 (V17M)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 196585	NM_153426.3(PITX2):c.46+8_46+9insTT	PITX2	Insertion (intron variant)	Axenfeld-Rieger syndrome type 1 +2 more	GBenign
Select item 496930	NM_153426.3(PITX2):c.46+8C>T	PITX2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 196586	NM_153426.3(PITX2):c.46+8delinsGTT	PITX2	Indel (intron variant)	not specified	GBenign
Select item 196584	NM_153427.3(PITX2):c.46+8C>G	PITX2	Single nucleotide variant (intron variant)	not specified +7 more	GBenign/Likely benign
Select item 196583	NM_153426.3(PITX2):c.46+7_46+8insGT	PITX2	Insertion (intron variant)	not provided	GUncertain significance
Select item 287668	NM_000325.1(PITX2):c.30G>C (p.Ser10=)	PITX2	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance

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Items: 20