CN239168[trait identifier] AND "Illumina Laboratory Services, Illumina - ClinVar

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Items: 63

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 901346	NM_000325.6(PITX2):c.*696A>C	PITX2	Single nucleotide variant (3 prime UTR variant)	Irido-corneo-trabecular dysgenesis +6 more	GUncertain significance
Select item 901347	NM_000325.6(PITX2):c.*687A>G	PITX2	Single nucleotide variant (3 prime UTR variant)	Irido-corneo-trabecular dysgenesis +6 more	GUncertain significance
Select item 347288	NM_000325.6(PITX2):c.*611A>G	PITX2	Single nucleotide variant (3 prime UTR variant)	Cataract +6 more	GUncertain significance
Select item 347289	NM_000325.6(PITX2):c.*572T>C	PITX2	Single nucleotide variant (3 prime UTR variant)	Cataract +6 more	GUncertain significance
Select item 347290	NM_000325.6(PITX2):c.*522T>C	PITX2	Single nucleotide variant (3 prime UTR variant)	Cataract +6 more	GUncertain significance
Select item 347291	NM_000325.6(PITX2):c.*471G>A	PITX2	Single nucleotide variant (3 prime UTR variant)	Cataract +7 more	GBenign/Likely benign
Select item 183253	NM_000325.6(PITX2):c.*454C>T	PITX2	Single nucleotide variant (3 prime UTR variant)	Anterior segment dysgenesis 1 +7 more	GBenign
Select item 902850	NM_000325.6(PITX2):c.*440C>T	PITX2	Single nucleotide variant (3 prime UTR variant)	Irido-corneo-trabecular dysgenesis +6 more	GUncertain significance
Select item 347292	NM_000325.6(PITX2):c.*373GTT[1]	PITX2	Microsatellite (3 prime UTR variant)	Cataract +6 more	GUncertain significance
Select item 347293	NM_000325.6(PITX2):c.*370G>C	PITX2	Single nucleotide variant (3 prime UTR variant)	Cataract +6 more	GUncertain significance
Select item 347294	NM_000325.6(PITX2):c.*340A>G	PITX2	Single nucleotide variant (3 prime UTR variant)	Cataract +6 more	GConflicting classifications of pathogenicity
Select item 347295	NM_000325.6(PITX2):c.*264A>C	PITX2	Single nucleotide variant (3 prime UTR variant)	Cataract +6 more	GUncertain significance
Select item 347296	NM_000325.6(PITX2):c.*176A>T	PITX2	Single nucleotide variant (3 prime UTR variant)	Cataract +6 more	GUncertain significance
Select item 900360	NM_000325.6(PITX2):c.*173G>A	PITX2	Single nucleotide variant (3 prime UTR variant)	PITX2-Related Eye Abnormalities +6 more	GUncertain significance
Select item 347297	NM_000325.6(PITX2):c.*119T>A	PITX2	Single nucleotide variant (3 prime UTR variant)	Cataract +6 more	GUncertain significance
Select item 901514	NM_000325.6(PITX2):c.*107A>C	PITX2	Single nucleotide variant (3 prime UTR variant)	Irido-corneo-trabecular dysgenesis +6 more	GUncertain significance
Select item 347298	NM_000325.6(PITX2):c.862C>T (p.Leu288=)	PITX2	Single nucleotide variant (synonymous variant)	Cataract +7 more	GConflicting classifications of pathogenicity
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 900415	NM_000325.6(PITX2):c.695G>A (p.Ser232Asn)	PITX2 (S179N +2 more)	Single nucleotide variant (missense variant)	PITX2-Related Eye Abnormalities +6 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 559593	NM_000325.6(PITX2):c.619A>G (p.Met207Val)	PITX2 (M154V +2 more)	Single nucleotide variant (missense variant)	Cataract +7 more	GConflicting classifications of pathogenicity
Select item 262718	NM_000325.6(PITX2):c.618T>G (p.Ser206=)	PITX2	Single nucleotide variant (synonymous variant)	not specified +9 more	GBenign/Likely benign
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 899414	NM_000325.6(PITX2):c.412-7C>T	PITX2	Single nucleotide variant (intron variant)	PITX2-Related Eye Abnormalities +6 more	GUncertain significance
Select item 347299	NM_000325.6(PITX2):c.412-11del	PITX2	Deletion (intron variant)	Cataract +6 more	GUncertain significance
Select item 900537	NM_000325.6(PITX2):c.282G>T (p.Arg94=)	PITX2	Single nucleotide variant (synonymous variant)	PITX2-Related Eye Abnormalities +6 more	GUncertain significance
Select item 347300	NM_000325.6(PITX2):c.224A>C (p.Gln75Pro)	PITX2 (Q22P +2 more)	Single nucleotide variant (missense variant)	Cataract +7 more	GConflicting classifications of pathogenicity
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 899457	NM_153427.3(PITX2):c.-40G>A	PITX2	Single nucleotide variant (5 prime UTR variant +1 more)	PITX2-Related Eye Abnormalities +6 more	GUncertain significance
Select item 899458	NM_153427.3(PITX2):c.-53G>A	PITX2	Single nucleotide variant (5 prime UTR variant +1 more)	PITX2-Related Eye Abnormalities +6 more	GUncertain significance
Select item 900591	NM_153427.3(PITX2):c.-79G>A	PITX2	Single nucleotide variant (5 prime UTR variant +1 more)	PITX2-Related Eye Abnormalities +6 more	GConflicting classifications of pathogenicity
Select item 902274	NM_153427.3(PITX2):c.-211G>A	PITX2	Single nucleotide variant (5 prime UTR variant +1 more)	Irido-corneo-trabecular dysgenesis +6 more	GConflicting classifications of pathogenicity
Select item 899519	NM_153427.2(PITX2):c.-245G>A	PITX2	Single nucleotide variant (intron variant)	PITX2-Related Eye Abnormalities +6 more	GUncertain significance
Select item 899520	NM_153427.2(PITX2):c.-270A>G	PITX2	Single nucleotide variant (intron variant)	PITX2-Related Eye Abnormalities +6 more	GUncertain significance
Select item 900657	NM_153427.2(PITX2):c.-300A>T	PITX2	Single nucleotide variant (intron variant)	PITX2-Related Eye Abnormalities +6 more	GUncertain significance
Select item 900658	NM_153427.2(PITX2):c.-362C>G	PITX2	Single nucleotide variant (intron variant)	PITX2-Related Eye Abnormalities +6 more	GBenign/Likely benign
Select item 902339	NM_153427.2(PITX2):c.-392G>T	PITX2	Single nucleotide variant (intron variant)	Irido-corneo-trabecular dysgenesis +7 more	GBenign/Likely benign
Select item 899596	NM_153427.2(PITX2):c.-429C>G	PITX2	Single nucleotide variant (intron variant)	PITX2-Related Eye Abnormalities +7 more	GConflicting classifications of pathogenicity
Select item 899597	NM_153427.2(PITX2):c.-436G>C	PITX2	Single nucleotide variant (intron variant)	PITX2-Related Eye Abnormalities +6 more	GUncertain significance
Select item 900734	NM_153427.2(PITX2):c.-483C>T	PITX2	Single nucleotide variant (intron variant)	PITX2-Related Eye Abnormalities +6 more	GUncertain significance
Select item 902412	NM_153427.2(PITX2):c.-485C>G	PITX2	Single nucleotide variant (intron variant)	Irido-corneo-trabecular dysgenesis +6 more	GBenign
Select item 899665	NM_153427.2(PITX2):c.-501T>G	PITX2	Single nucleotide variant (intron variant)	PITX2-Related Eye Abnormalities +6 more	GUncertain significance
Select item 899666	NM_153427.2(PITX2):c.-515C>T	PITX2	Single nucleotide variant (intron variant)	PITX2-Related Eye Abnormalities +6 more	GUncertain significance
Select item 900813	NM_153427.2(PITX2):c.-670C>T	PITX2	Single nucleotide variant (intron variant)	PITX2-Related Eye Abnormalities +6 more	GUncertain significance
Select item 902484	NM_153427.2(PITX2):c.-793C>A	PITX2	Single nucleotide variant (intron variant)	Irido-corneo-trabecular dysgenesis +6 more	GConflicting classifications of pathogenicity
Select item 899730	NM_153427.2(PITX2):c.-920C>T	PITX2	Single nucleotide variant (intron variant)	PITX2-Related Eye Abnormalities +6 more	GUncertain significance
Select item 899731	NM_153427.2(PITX2):c.-966A>G	PITX2	Single nucleotide variant (intron variant)	PITX2-Related Eye Abnormalities +6 more	GUncertain significance
Select item 900892	NM_153427.2(PITX2):c.-967C>T	PITX2	Single nucleotide variant (intron variant)	PITX2-Related Eye Abnormalities +6 more	GConflicting classifications of pathogenicity
Select item 902558	NM_153427.2(PITX2):c.-1024G>A	PITX2	Single nucleotide variant (intron variant)	Irido-corneo-trabecular dysgenesis +6 more	GBenign/Likely benign
Select item 903410	NM_153427.2(PITX2):c.-1068C>T	PITX2	Single nucleotide variant (intron variant)	Irido-corneo-trabecular dysgenesis +7 more	GBenign
Select item 899796	NM_153427.2(PITX2):c.-1078C>A	PITX2	Single nucleotide variant (intron variant)	PITX2-Related Eye Abnormalities +6 more	GUncertain significance
Select item 899797	NM_153427.2(PITX2):c.-1092G>A	PITX2	Single nucleotide variant (intron variant)	PITX2-Related Eye Abnormalities +6 more	GUncertain significance
Select item 900960	NM_153427.2(PITX2):c.-1111C>G	PITX2	Single nucleotide variant (intron variant)	PITX2-Related Eye Abnormalities +6 more	GBenign/Likely benign
Select item 902615	NM_153427.2(PITX2):c.-1137G>A	PITX2	Single nucleotide variant (intron variant)	Irido-corneo-trabecular dysgenesis +6 more	GUncertain significance
Select item 899850	NM_153427.2(PITX2):c.-1209C>T	PITX2	Single nucleotide variant (intron variant)	PITX2-Related Eye Abnormalities +6 more	GUncertain significance
Select item 899851	NM_153427.2(PITX2):c.-1311G>T	PITX2	Single nucleotide variant (intron variant)	PITX2-Related Eye Abnormalities +6 more	GBenign/Likely benign
Select item 901030	NM_153427.2(PITX2):c.-1335C>A	PITX2	Single nucleotide variant (intron variant)	Irido-corneo-trabecular dysgenesis +6 more	GBenign/Likely benign
Select item 901581	NM_001204398.1(PITX2):c.-11+12T>C	PITX2	Single nucleotide variant (intron variant)	Irido-corneo-trabecular dysgenesis +6 more	GConflicting classifications of pathogenicity
Select item 901582	NM_153427.2(PITX2):c.-1411C>T	PITX2	Single nucleotide variant (5 prime UTR variant)	Irido-corneo-trabecular dysgenesis +6 more	GUncertain significance
Select item 899913	NM_153427.2(PITX2):c.-1421G>C	PITX2	Single nucleotide variant (5 prime UTR variant)	PITX2-Related Eye Abnormalities +6 more	GUncertain significance
Select item 899914	NM_153427.2(PITX2):c.-1422C>A	PITX2	Single nucleotide variant (5 prime UTR variant)	Cataract +6 more	GUncertain significance
Select item 901089	NM_153427.2(PITX2):c.-1491G>A	PITX2	Single nucleotide variant (5 prime UTR variant)	Irido-corneo-trabecular dysgenesis +6 more	GUncertain significance
Select item 901637	NM_153427.2(PITX2):c.-1532C>A	PITX2	Single nucleotide variant (5 prime UTR variant)	Irido-corneo-trabecular dysgenesis +6 more	GConflicting classifications of pathogenicity

ClinVar

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Items: 63