5308[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58033	GRCh38/hg38 4q22.3-28.3(chr4:96092893-136410207)x3	LOC129993082, LOC129993083 +661 more	Copy number gain	See cases	GPathogenic
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 3346903	NM_000325.6(PITX2):c.*515A>T	PITX2	Single nucleotide variant (3 prime UTR variant)	PITX2-related disorder	GLikely benign
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 375443	NC_000004.12:g.(?_110618049)_(110622472_?)del	PITX2	Deletion	Axenfeld-Rieger syndrome type 1	GPathogenic
Select item 2328581	NM_000325.6(PITX2):c.958G>A (p.Val320Met)	PITX2 (V320M +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 849729	NM_000325.6(PITX2):c.941G>A (p.Ser314Asn)	PITX2 (S314N +2 more)	Single nucleotide variant (missense variant)	Axenfeld-Rieger syndrome type 1 +2 more	GUncertain significance
Select item 3038286	NM_000325.6(PITX2):c.929C>A (p.Ala310Asp)	PITX2 (A257D +2 more)	Single nucleotide variant (missense variant)	PITX2-related disorder	GUncertain significance
Select item 2193679	NM_000325.6(PITX2):c.927G>A (p.Pro309=)	PITX2	Single nucleotide variant (synonymous variant)	Axenfeld-Rieger syndrome type 1 +1 more	GLikely benign
Select item 474009	NC_000004.12:g.(?_110618181)_(110621345_?)del	PITX2	Deletion	Axenfeld-Rieger syndrome type 1 +1 more	GLikely pathogenic
Select item 648326	NM_000325.6(PITX2):c.916G>A (p.Val306Met)	PITX2 (V253M +2 more)	Single nucleotide variant (missense variant)	Anterior segment dysgenesis 4 +1 more	GUncertain significance
Select item 591909	NM_000325.6(PITX2):c.902T>G (p.Phe301Cys)	PITX2 (F248C +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 347298	NM_000325.6(PITX2):c.862C>T (p.Leu288=)	PITX2	Single nucleotide variant (synonymous variant)	Hypoplasia of the iris +7 more	GConflicting classifications of pathogenicity
Select item 3340404	NM_000325.6(PITX2):c.857C>T (p.Ser286Leu)	PITX2 (S233L +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 1710340	NM_000325.6(PITX2):c.839del (p.Tyr280fs)	PITX2 (Y227fs +2 more)	Deletion (frameshift variant)	Axenfeld-Rieger anomaly with partially absent eye muscles, distinctive face, hydrocephaly, and skeletal abnormalities	GPathogenic
Select item 167472	NM_000325.6(PITX2):c.819G>A (p.Pro273=)	PITX2	Single nucleotide variant (synonymous variant)	not specified +9 more	GBenign/Likely benign
Select item 1660721	NM_000325.6(PITX2):c.816G>A (p.Ala272=)	PITX2	Single nucleotide variant (synonymous variant)	Axenfeld-Rieger syndrome type 1 +1 more	GLikely benign
Select item 871112	NM_000325.6(PITX2):c.813_814insT (p.Ala272fs)	PITX2 (A265fs +2 more)	Insertion (frameshift variant)	not provided	GPathogenic
Select item 96521	NM_000325.6(PITX2):c.812A>T (p.Tyr271Phe)	PITX2 (Y218F +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 375442	NM_000325.6(PITX2):c.807T>A (p.Cys269Ter)	PITX2 (C216* +2 more)	Single nucleotide variant (nonsense)	Axenfeld-Rieger syndrome type 1	GPathogenic
Select item 772691	NM_000325.6(PITX2):c.795G>T (p.Pro265=)	PITX2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 375441	NM_000325.6(PITX2):c.784_785del (p.Ser262fs)	PITX2 (S255fs +2 more)	Deletion (frameshift variant)	Axenfeld-Rieger syndrome type 1	GPathogenic
Select item 375440	NM_000325.6(PITX2):c.714_735del (p.Thr239fs)	PITX2 (T232fs +2 more)	Deletion (frameshift variant)	Axenfeld-Rieger syndrome type 1	GPathogenic
Select item 3213316	NM_000325.6(PITX2):c.728G>A (p.Gly243Asp)	PITX2 (G190D +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1455159	NM_000325.6(PITX2):c.700_716dup (p.Thr239_Gly240insCysProGlnGlnTer)	PITX2	Duplication (nonsense +1 more)	Axenfeld-Rieger syndrome type 1 +1 more	GPathogenic
Select item 2057598	NM_000325.6(PITX2):c.697A>G (p.Met233Val)	PITX2 (M226V +2 more)	Single nucleotide variant (missense variant)	Anterior segment dysgenesis 4 +1 more	GUncertain significance
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 2265664	NM_000325.6(PITX2):c.681G>A (p.Met227Ile)	PITX2 (M220I +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 3213313	NM_000325.6(PITX2):c.656C>G (p.Ser219Cys)	PITX2 (S166C +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2293748	NM_000325.6(PITX2):c.651G>C (p.Met217Ile)	PITX2 (M210I +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 283383	NM_000325.6(PITX2):c.639A>T (p.Ser213=)	PITX2	Single nucleotide variant (synonymous variant)	Anterior segment dysgenesis 4 +8 more	GConflicting classifications of pathogenicity
Select item 2939839	NM_000325.6(PITX2):c.634C>T (p.Leu212=)	PITX2	Single nucleotide variant (synonymous variant)	Axenfeld-Rieger syndrome type 1 +1 more	GLikely benign
Select item 1972588	NM_000325.6(PITX2):c.633C>T (p.Pro211=)	PITX2	Single nucleotide variant (synonymous variant)	Axenfeld-Rieger syndrome type 1 +1 more	GLikely benign
Select item 3213312	NM_000325.6(PITX2):c.631C>A (p.Pro211Thr)	PITX2 (P211T +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 559593	NM_000325.6(PITX2):c.619A>G (p.Met207Val)	PITX2 (M154V +2 more)	Single nucleotide variant (missense variant)	Anterior segment dysgenesis 4 +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 provided +9 more	GBenign/Likely benign
Select item 1659615	NM_000325.6(PITX2):c.592A>T (p.Thr198Ser)	PITX2 (T145S +2 more)	Single nucleotide variant (missense variant)	Axenfeld-Rieger syndrome type 1 +1 more	GLikely benign
Select item 2048618	NM_000325.6(PITX2):c.588A>C (p.Leu196=)	PITX2	Single nucleotide variant (synonymous variant)	Axenfeld-Rieger syndrome type 1 +1 more	GLikely benign
Select item 161569	NM_000325.6(PITX2):c.580G>A (p.Ala194Thr)	PITX2 (A141T +2 more)	Single nucleotide variant (missense variant)	Malignant tumor of prostate	GUncertain significance
Select item 197884	NM_000325.6(PITX2):c.562G>A (p.Ala188Thr)	PITX2 (A135T +2 more)	Single nucleotide variant (missense variant)	Cataract +8 more	GBenign/Likely benign
Select item 2578057	NM_000325.6(PITX2):c.559del (p.Ala187fs)	PITX2 (A134fs +2 more)	Deletion (frameshift variant)	not provided	GLikely pathogenic
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 3213311	NM_000325.6(PITX2):c.551A>G (p.Asn184Ser)	PITX2 (N177S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 639456	NM_000325.6(PITX2):c.534C>G (p.Tyr178Ter)	PITX2 (Y171* +2 more)	Single nucleotide variant (nonsense)	Axenfeld-Rieger syndrome type 1 +1 more	GPathogenic
Select item 3342044	NM_000325.6(PITX2):c.528C>G (p.Asp176Glu)	PITX2 (D123E +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 937285	NM_000325.6(PITX2):c.522_523delinsAA (p.Tyr174_Asp175delinsTer)	PITX2	Indel (nonsense)	Axenfeld-Rieger syndrome type 1 +1 more	GPathogenic
Select item 2581089	NM_000325.6(PITX2):c.522C>A (p.Tyr174Ter)	PITX2 (Y121* +2 more)	Single nucleotide variant (nonsense)	Pituitary stalk interruption syndrome	GUncertain significance
Select item 1449912	NM_000325.6(PITX2):c.522C>G (p.Tyr174Ter)	PITX2 (Y167* +2 more)	Single nucleotide variant (nonsense)	Anterior segment dysgenesis 4 +1 more	GPathogenic/Likely pathogenic
Select item 2007681	NM_000325.6(PITX2):c.517C>T (p.Pro173Ser)	PITX2 (P120S +2 more)	Single nucleotide variant (missense variant)	Axenfeld-Rieger syndrome type 1 +1 more	GUncertain significance
Select item 1693123	NM_000325.6(PITX2):c.515del (p.Gln172fs)	PITX2 (Q119fs +2 more)	Deletion (frameshift variant)	Axenfeld-Rieger syndrome type 1 +1 more	GPathogenic
Select item 3344352	NM_000325.6(PITX2):c.511A>T (p.Met171Leu)	PITX2 (M118L +2 more)	Single nucleotide variant (missense variant)	PITX2-related disorder	GUncertain significance
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 932289	NM_000325.6(PITX2):c.500dup (p.Asn168fs)	PITX2 (N115fs +2 more)	Duplication (frameshift variant)	Anterior segment dysgenesis	GPathogenic
Select item 725771	NM_000325.6(PITX2):c.495G>T (p.Pro165=)	PITX2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2155411	NM_000325.6(PITX2):c.489C>T (p.Phe163=)	PITX2	Single nucleotide variant (synonymous variant)	Axenfeld-Rieger syndrome type 1 +1 more	GLikely benign
Select item 2019449	NM_000325.6(PITX2):c.470_476dup (p.Cys159Ter)	PITX2 (C159* +2 more)	Duplication (nonsense)	Axenfeld-Rieger syndrome type 1 +1 more	GPathogenic
Select item 1458040	NM_000325.6(PITX2):c.448_449del (p.Arg150fs)	PITX2 (R97fs +2 more)	Microsatellite (frameshift variant)	Inborn genetic diseases +2 more	GPathogenic
Select item 375439	NM_000325.6(PITX2):c.433G>C (p.Ala145Pro)	PITX2 (A92P +2 more)	Single nucleotide variant (missense variant)	Axenfeld-Rieger syndrome type 1	GUncertain significance
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 +2 more	GLikely pathogenic
Select item 375438	NM_000325.6(PITX2):c.430C>G (p.Arg144Gly)	PITX2 (R91G +2 more)	Single nucleotide variant (missense variant)	Axenfeld-Rieger syndrome type 1	GUncertain significance
Select item 3046062	NM_000325.6(PITX2):c.429T>A (p.Arg143=)	PITX2	Single nucleotide variant (synonymous variant)	PITX2-related disorder	GLikely benign
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 2954309	NM_000325.6(PITX2):c.425A>G (p.Asn142Ser)	PITX2 (N142S +2 more)	Single nucleotide variant (missense variant)	Axenfeld-Rieger syndrome type 1 +1 more	GUncertain significance
Select item 30197	NM_000325.6(PITX2):c.421A>G (p.Lys141Glu)	PITX2 (K88E +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 8091	NM_000325.6(PITX2):c.412-2A>T	PITX2	Single nucleotide variant (splice acceptor variant)	ANTERIOR SEGMENT DYSGENESIS 4, PETERS ANOMALY SUBTYPE	GPathogenic
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 8086	NM_000325.6(PITX2):c.412-11A>G	PITX2	Single nucleotide variant (intron variant)	not provided +2 more	GPathogenic
Select item 1218185	NM_000325.6(PITX2):c.412-102G>A	PITX2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1200825	NM_000325.6(PITX2):c.412-271T>C	PITX2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2431138	NM_000325.6(PITX2):c.412-283C>A	PITX2	Single nucleotide variant (intron variant)	Lung adenocarcinoma	GUncertain significance
Select item 2655025	NM_000325.6(PITX2):c.411+225C>T	PITX2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1296541	NM_000325.6(PITX2):c.411+196C>T	PITX2	Single nucleotide variant (intron variant)	not provided	GBenign

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