PITX1[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59672	GRCh38/hg38 5q21.3-33.2(chr5:106619588-156124387)x1	ABLIM3, ACSL6 +1672 more	Copy number loss	See cases	GPathogenic
Select item 149858	GRCh38/hg38 5q23.3-33.2(chr5:129847794-153353546)x3	LOC129994992, LOC129994993 +1157 more	Copy number gain	See cases	GPathogenic
Select item 57483	GRCh38/hg38 5q23.3-33.2(chr5:130860928-155321811)x3	ABLIM3, ACSL6 +1218 more	Copy number gain	See cases	GPathogenic
Select item 146119	GRCh38/hg38 5q31.1(chr5:131626503-135815054)x1	ACSL6, ACSL6-AS1 +263 more	Copy number loss	See cases	GPathogenic
Select item 58360	GRCh38/hg38 5q31.1(chr5:132816203-135383158)x1	AFF4, AFF4-DT +147 more	Copy number loss	See cases	GPathogenic
Select item 58361	GRCh38/hg38 5q31.1-31.2(chr5:133401565-138437038)x1	BRD8, C5orf15 +230 more	Copy number loss	See cases	GPathogenic
Select item 59471	GRCh38/hg38 5q31.1(chr5:134873523-135297352)x3	CATSPER3, EPIST +14 more	Copy number gain	See cases	GUncertain significance
Select item 1261620	NM_002653.5(PITX1):c.*45GCGCGG[2]	PITX1	Microsatellite (3 prime UTR variant)	not provided	GBenign
Select item 1272199	NM_002653.5(PITX1):c.*54C>T	PITX1	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 3213309	NM_002653.5(PITX1):c.940A>G (p.Ser314Gly)	PITX1 (S314G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1806125	NM_002653.5(PITX1):c.934T>C (p.Tyr312His)	PITX1 (Y312H)	Single nucleotide variant (missense variant)	Brachydactyly-elbow wrist dysplasia syndrome	GUncertain significance
Select item 1967191	NM_002653.5(PITX1):c.927G>T (p.Ala309=)	PITX1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2548465	NM_002653.5(PITX1):c.926C>G (p.Ala309Gly)	PITX1 (A309G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2430472	NM_002653.5(PITX1):c.923A>G (p.Asn308Ser)	PITX1 (N308S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2986911	NM_002653.5(PITX1):c.915G>A (p.Ser305=)	PITX1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2621856	NM_002653.5(PITX1):c.914C>T (p.Ser305Leu)	PITX1 (S305L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2842174	NM_002653.5(PITX1):c.899T>G (p.Leu300Arg)	PITX1 (L300R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 286868	NM_002653.5(PITX1):c.896G>C (p.Gly299Ala)	PITX1 (G299A)	Single nucleotide variant (missense variant)	Brachydactyly-elbow wrist dysplasia syndrome +3 more	GBenign
Select item 3252938	NM_002653.5(PITX1):c.857G>T (p.Arg286Leu)	PITX1 (R286L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3068201	NM_002653.5(PITX1):c.824G>A (p.Arg275Gln)	PITX1 (R275Q)	Single nucleotide variant (missense variant)	Clubfoot	GUncertain significance
Select item 2177006	NM_002653.5(PITX1):c.807G>C (p.Ser269=)	PITX1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 37253	NM_002653.5(PITX1):c.765_799del (p.Ala256fs)	PITX1 (A256fs)	Deletion (frameshift variant)	Clubfoot	GPathogenic
Select item 3213306	NM_002653.5(PITX1):c.794G>T (p.Gly265Val)	PITX1 (G265V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1294420	NM_002653.5(PITX1):c.793G>A (p.Gly265Ser)	PITX1 (G265S)	Single nucleotide variant (missense variant)	Brachydactyly-elbow wrist dysplasia syndrome +1 more	GBenign
Select item 932171	NM_002653.5(PITX1):c.793G>T (p.Gly265Cys)	PITX1 (G265C)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 2481321	NM_002653.5(PITX1):c.788C>T (p.Pro263Leu)	PITX1 (P263L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2001229	NM_002653.5(PITX1):c.755dup (p.Leu253fs)	PITX1 (L253fs)	Duplication (frameshift variant)	not provided	GUncertain significance
Select item 2498978	NM_002653.5(PITX1):c.738del (p.Asn246fs)	PITX1 (N246fs)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 2975153	NM_002653.5(PITX1):c.711G>A (p.Met237Ile)	PITX1 (M237I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1406694	NM_002653.5(PITX1):c.694G>A (p.Gly232Ser)	PITX1 (G232S)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2105398	NM_002653.5(PITX1):c.691C>T (p.Pro231Ser)	PITX1 (P231S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1940061	NM_002653.5(PITX1):c.686T>C (p.Met229Thr)	PITX1 (M229T)	Single nucleotide variant (missense variant)	PITX1-related disorder +1 more	GUncertain significance
Select item 930834	NM_002653.5(PITX1):c.683G>T (p.Ser228Ile)	PITX1 (S228I)	Single nucleotide variant (missense variant)	Clubfoot	GUncertain significance
Select item 3213305	NM_002653.5(PITX1):c.671C>A (p.Thr224Asn)	PITX1 (T224N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1969126	NM_002653.5(PITX1):c.657C>T (p.Ser219=)	PITX1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2904474	NM_002653.5(PITX1):c.651C>G (p.Pro217=)	PITX1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2469291	NM_002653.5(PITX1):c.637A>G (p.Met213Val)	PITX1 (M213V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2844294	NM_002653.5(PITX1):c.563G>T (p.Ser188Ile)	PITX1 (S188I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2803939	NM_002653.5(PITX1):c.556G>T (p.Ala186Ser)	PITX1 (A186S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2573048	NM_002653.5(PITX1):c.551G>C (p.Trp184Ser)	PITX1 (W184S)	Single nucleotide variant (missense variant)	Clubfoot	GUncertain significance
Select item 2292252	NM_002653.5(PITX1):c.548A>G (p.Asn183Ser)	PITX1 (N183S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3369317	NM_002653.5(PITX1):c.542A>G (p.Tyr181Cys)	PITX1 (Y181C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3006244	NM_002653.5(PITX1):c.526G>A (p.Ala176Thr)	PITX1 (A176T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 800035	NM_002653.5(PITX1):c.525C>T (p.Tyr175=)	PITX1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 620433	NM_002653.5(PITX1):c.513C>G (p.Tyr171Ter)	PITX1 (Y171*)	Single nucleotide variant (nonsense)	Clubfoot +1 more	GConflicting classifications of pathogenicity
Select item 2389659	NM_002653.5(PITX1):c.494G>A (p.Ser165Asn)	PITX1 (S165N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2442533	NM_002653.5(PITX1):c.489G>C (p.Gln163His)	PITX1 (Q163H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1922800	NM_002653.5(PITX1):c.485C>A (p.Pro162Gln)	PITX1 (P162Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2243169	NM_002653.5(PITX1):c.464T>C (p.Leu155Pro)	PITX1 (L155P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3066116	NM_002653.5(PITX1):c.422G>A (p.Arg141Gln)	PITX1 (R141Q)	Single nucleotide variant (missense variant)	Clubfoot	GUncertain significance
Select item 1578116	NM_002653.5(PITX1):c.421C>A (p.Arg141=)	PITX1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 285760	NM_002653.5(PITX1):c.418C>A (p.Arg140=)	PITX1	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign
Select item 196353	NM_002653.5(PITX1):c.416A>C (p.Asn139Thr)	PITX1 (N139T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1033526	NM_002653.5(PITX1):c.414G>T (p.Lys138Asn)	PITX1 (K138N)	Single nucleotide variant (missense variant)	Clubfoot	GLikely pathogenic
Select item 933134	NM_002653.5(PITX1):c.412A>C (p.Lys138Gln)	PITX1 (K138Q)	Single nucleotide variant (missense variant)	Hurler syndrome	GLikely pathogenic
Select item 1898751	NM_002653.5(PITX1):c.403-11C>T	PITX1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1291802	NM_002653.5(PITX1):c.403-59G>A	PITX1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1294906	NM_002653.5(PITX1):c.403-80A>G	PITX1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1229882	NM_002653.5(PITX1):c.402+93A>C	PITX1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1319178	NM_002653.5(PITX1):c.398T>A (p.Val133Glu)	PITX1 (V133E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 7505	NM_002653.5(PITX1):c.388G>A (p.Glu130Lys)	PITX1 (E130K)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 791627	NM_002653.5(PITX1):c.387C>T (p.Thr129=)	PITX1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 730058	NM_002653.5(PITX1):c.384C>A (p.Leu128=)	PITX1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3369370	NM_002653.5(PITX1):c.365T>A (p.Ile122Asn)	PITX1 (I122N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2499600	NM_002653.5(PITX1):c.292del (p.Ser98fs)	PITX1 (S98fs)	Deletion (frameshift variant)	Clubfoot	GLikely pathogenic
Select item 285947	NM_002653.5(PITX1):c.262A>C (p.Lys88Gln)	PITX1 (K88Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 287966	NM_002653.5(PITX1):c.251C>A (p.Ala84Asp)	PITX1 (A84D)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1408707	NM_002653.5(PITX1):c.226G>C (p.Gly76Arg)	PITX1 (G76R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2513919	NM_002653.5(PITX1):c.212G>A (p.Gly71Asp)	PITX1 (G71D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3213304	NM_002653.5(PITX1):c.179G>T (p.Arg60Leu)	PITX1 (R60L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2242091	NM_002653.5(PITX1):c.178C>T (p.Arg60Cys)	PITX1 (R60C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2204472	NM_002653.5(PITX1):c.178C>A (p.Arg60Ser)	PITX1 (R60S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 390430	NM_002653.5(PITX1):c.170-2A>G	PITX1	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 1959272	NM_002653.5(PITX1):c.170-16G>C	PITX1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1247940	NM_002653.5(PITX1):c.170-131T>C	PITX1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1278728	NM_002653.5(PITX1):c.169+145C>T	PITX1, PITX1-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1701768	NM_002653.5(PITX1):c.158C>T (p.Thr53Met)	PITX1, PITX1-AS1 (T53M)	Single nucleotide variant (missense variant)	Clubfoot	GUncertain significance
Select item 1315054	NM_002653.5(PITX1):c.139G>T (p.Ala47Ser)	PITX1, PITX1-AS1 (A47S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1685006	NM_002653.5(PITX1):c.89C>T (p.Ala30Val)	PITX1, PITX1-AS1 (A30V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1325843	NM_002653.5(PITX1):c.87del (p.Ala30fs)	PITX1, PITX1-AS1 (A30fs)	Deletion (frameshift variant)	Clubfoot	GLikely pathogenic
Select item 3213307	NM_002653.5(PITX1):c.79A>G (p.Met27Val)	PITX1, PITX1-AS1 (M27V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1706129	NM_002653.5(PITX1):c.77A>C (p.Asp26Ala)	PITX1-AS1, PITX1 (D26A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 745264	NM_002653.5(PITX1):c.75T>C (p.His25=)	PITX1, PITX1-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2634771	NM_002653.5(PITX1):c.54GCC[6] (p.Pro24_His25insPro)	PITX1, PITX1-AS1	Microsatellite (inframe_insertion)	PITX1-related disorder	GUncertain significance
Select item 2555617	NM_002653.5(PITX1):c.67C>T (p.Pro23Ser)	PITX1, PITX1-AS1 (P23S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1528967	NM_002653.5(PITX1):c.36G>A (p.Arg12=)	PITX1-AS1, PITX1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3306750	NM_002653.5(PITX1):c.20G>T (p.Gly7Val)	PITX1, PITX1-AS1 (G7V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1274487	NM_002653.5(PITX1):c.-221G>T	PITX1, PITX1-AS1	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 1268490	NM_002653.5(PITX1):c.-293AGCCGG[3]	PITX1, PITX1-AS1	Microsatellite (5 prime UTR variant)	not provided	GBenign
Select item 1275056	NC_000005.10:g.135034491C>T	PITX1-AS1, PITX1	Single nucleotide variant	not provided	GBenign
Select item 3246504	NC_000005.9:g.(?_133533463)_(135398915_?)dup	SLC25A48, TGFBI +21 more	Duplication	not provided	GUncertain significance
Select item 3242297	GRCh37/hg19 5q23.2-31.1(chr5:124864529-134720575)x1	FSTL4, GDF9 +63 more	Copy number loss	not provided	GPathogenic
Select item 2684432	GRCh37/hg19 5q31.1(chr5:133713529-134383753)x3	C5orf24, CAMLG +10 more	Copy number gain	not provided	GUncertain significance
Select item 1527199	GRCh37/hg19 5q31.1(chr5:132829317-134983855)	C5orf15, C5orf24 +22 more	Copy number loss	not specified	GUncertain significance
Select item 1527198	GRCh37/hg19 5q31.1-31.2(chr5:132031902-137623639)	AFF4, BRD8 +53 more	Copy number loss	not specified	GPathogenic
Select item 635930	Single allele	C5orf24, C5orf34 +600 more	Deletion	Neurodevelopmental disorder	GUncertain significance
Select item 624508	GRCh37/hg19 5q23.2-31.2(chr5:126377719-136270989)x1	ACSL6, ADAMTS19 +68 more	Copy number loss	not provided	GLikely pathogenic
Select item 457359	NC_000005.9:g.(?_86400000)_(154000000_?)del	CCDC69, CCNH +385 more	Deletion	Familial adenomatous polyposis 1 +1 more	GPathogenic
Select item 442431	GRCh37/hg19 5p15.1-q35.2(chr5:17628741-176575720)x1	DHFR, DHX29 +738 more	Copy number loss	See cases	GPathogenic
Select item 441920	GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)	ABLIM3, ACOT12 +870 more	Copy number gain	See cases	GPathogenic

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