C3714873[trait identifier] AND "Human Developmental Genetics Laborator - ClinVar

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Items: 29

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1693129	NM_000325.6(PITX2):c.867_889del (p.Ser290fs)	PITX2 (S237fs +2 more)	Deletion (frameshift variant)	Axenfeld-Rieger syndrome type 1	GPathogenic
Select item 1693128	NM_000325.6(PITX2):c.791_792dup (p.Pro265fs)	PITX2 (P212fs +2 more)	Duplication (frameshift variant)	Axenfeld-Rieger syndrome type 1	GPathogenic
Select item 1693127	NM_000325.6(PITX2):c.790del (p.Val264fs)	PITX2 (V211fs +2 more)	Deletion (frameshift variant)	Axenfeld-Rieger syndrome type 1	GPathogenic
Select item 1693126	NM_000325.6(PITX2):c.663del (p.Asn222fs)	PITX2 (N169fs +2 more)	Deletion (frameshift variant)	Axenfeld-Rieger syndrome type 1	GPathogenic
Select item 8088	NM_000325.6(PITX2):c.558G>A (p.Trp186Ter)	PITX2 (W133* +2 more)	Single nucleotide variant (nonsense)	Axenfeld-Rieger syndrome type 1	GPathogenic
Select item 1693125	NM_000325.6(PITX2):c.557G>A (p.Trp186Ter)	PITX2 (W133* +2 more)	Single nucleotide variant (nonsense)	Axenfeld-Rieger syndrome type 1	GPathogenic
Select item 1693124	NM_000325.6(PITX2):c.525del (p.Asp175fs)	PITX2 (D122fs +2 more)	Deletion (frameshift variant)	Axenfeld-Rieger syndrome type 1	GPathogenic
Select item 1449912	NM_000325.6(PITX2):c.522C>G (p.Tyr174Ter)	PITX2 (Y167* +2 more)	Single nucleotide variant (nonsense)	Axenfeld-Rieger syndrome type 1 +1 more	GPathogenic/Likely pathogenic
Select item 1693123	NM_000325.6(PITX2):c.515del (p.Gln172fs)	PITX2 (Q119fs +2 more)	Deletion (frameshift variant)	Anterior segment dysgenesis 4 +1 more	GPathogenic
Select item 1693122	NM_000325.6(PITX2):c.503_506del (p.Asn168fs)	PITX2 (N115fs +2 more)	Deletion (frameshift variant)	Axenfeld-Rieger syndrome type 1	GPathogenic
Select item 1458040	NM_000325.6(PITX2):c.448_449del (p.Arg150fs)	PITX2 (R97fs +2 more)	Microsatellite (frameshift variant)	Axenfeld-Rieger syndrome type 1 +1 more	GPathogenic
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 8087	NM_000325.6(PITX2):c.431G>C (p.Arg144Pro)	PITX2 (R91P +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GPathogenic/Likely pathogenic
Select item 1068355	NM_000325.6(PITX2):c.430C>T (p.Arg144Trp)	PITX2 (R137W +2 more)	Single nucleotide variant (missense variant)	Axenfeld-Rieger syndrome type 1 +1 more	GLikely pathogenic
Select item 1693135	NM_000325.6(PITX2):c.428G>C (p.Arg143Pro)	PITX2 (R136P +2 more)	Single nucleotide variant (missense variant)	Axenfeld-Rieger syndrome type 1	GPathogenic
Select item 1693134	NM_000325.6(PITX2):c.418T>C (p.Phe140Leu)	PITX2 (F133L +2 more)	Single nucleotide variant (missense variant)	Axenfeld-Rieger syndrome type 1	GLikely pathogenic
Select item 1693133	NM_000325.6(PITX2):c.417G>T (p.Trp139Cys)	PITX2 (W132C +2 more)	Single nucleotide variant (missense variant)	Axenfeld-Rieger syndrome type 1	GPathogenic
Select item 647394	NM_000325.6(PITX2):c.416G>C (p.Trp139Ser)	PITX2 (W139S +2 more)	Single nucleotide variant (missense variant)	Axenfeld-Rieger syndrome type 1 +1 more	GPathogenic
Select item 1693156	NM_000325.6(PITX2):c.412-1G>A	PITX2	Single nucleotide variant (splice acceptor variant)	Axenfeld-Rieger syndrome type 1	GPathogenic
Select item 474011	NM_000325.6(PITX2):c.412-2A>G	PITX2	Single nucleotide variant (splice acceptor variant)	Axenfeld-Rieger syndrome type 1 +1 more	GPathogenic/Likely pathogenic
Select item 8086	NM_000325.6(PITX2):c.412-11A>G	PITX2	Single nucleotide variant (intron variant)	Anterior segment dysgenesis 4 +2 more	GPathogenic
Select item 695068	NM_000325.6(PITX2):c.411+1G>A	PITX2	Single nucleotide variant (splice donor variant)	Axenfeld-Rieger syndrome type 1	GPathogenic
Select item 1693132	NM_000325.6(PITX2):c.406G>T (p.Val136Phe)	PITX2 (V129F +2 more)	Single nucleotide variant (missense variant)	Axenfeld-Rieger syndrome type 1	GLikely pathogenic
Select item 1693146	NM_000325.6(PITX2):c.384G>A (p.Trp128Ter)	PITX2 (W121* +2 more)	Single nucleotide variant (nonsense)	Axenfeld-Rieger syndrome type 1	GPathogenic
Select item 8094	NM_000325.6(PITX2):c.344G>A (p.Arg115His)	PITX2 (R62H +2 more)	Single nucleotide variant (missense variant)	Axenfeld-Rieger syndrome type 1 +1 more	GPathogenic/Likely pathogenic
Select item 1693136	NM_000325.6(PITX2):c.302_303del (p.Ser101fs)	PITX2 (S101fs +2 more)	Deletion (frameshift variant)	Axenfeld-Rieger syndrome type 1	GPathogenic
Select item 1693131	NM_000325.6(PITX2):c.296T>C (p.Phe99Ser)	PITX2 (F46S +2 more)	Single nucleotide variant (missense variant)	Axenfeld-Rieger syndrome type 1	GLikely pathogenic
Select item 1693130	NM_000325.6(PITX2):c.293dup (p.His98fs)	PITX2 (H45fs +2 more)	Duplication (frameshift variant)	Axenfeld-Rieger syndrome type 1	GPathogenic
Select item 1693121	NM_000325.6(PITX2):c.220C>T (p.Gln74Ter)	PITX2 (Q21* +2 more)	Single nucleotide variant (nonsense)	Axenfeld-Rieger syndrome type 1	GPathogenic

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Items: 29