5309[geneid] - ClinVar

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Items: 73

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 57116	GRCh38/hg38 10q23.33-25.3(chr10:95112607-116776637)x3	LOC130004500, LOC130004501 +821 more	Copy number gain	See cases	GPathogenic
Select item 59707	GRCh38/hg38 10q24.31-26.3(chr10:100194215-132432797)x3	EDRF1-AS1, EDRF1-DT +1036 more	Copy number gain	See cases	GPathogenic
Select item 148679	GRCh38/hg38 10q24.31-26.3(chr10:100600492-133622588)x3	GSTO1, GSTO2 +1097 more	Copy number gain	See cases	GPathogenic
Select item 1065586	NM_005029.4(PITX3):c.908G>T (p.Ter303Leu)	LOC130004590, PITX3	Single nucleotide variant (stop lost)	Developmental cataract	GLikely pathogenic
Select item 3306751	NM_005029.4(PITX3):c.844G>T (p.Val282Leu)	LOC130004590, PITX3 (V282L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1012557	NM_005029.4(PITX3):c.773A>G (p.Asp258Gly)	GBF1, PITX3 (D258G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2162942	NM_005029.4(PITX3):c.771G>A (p.Arg257=)	GBF1, PITX3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 620191	NM_005029.4(PITX3):c.762C>A (p.Tyr254Ter)	GBF1, LOC130004591 +1 more (Y254*)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 3047919	NM_005029.4(PITX3):c.759C>T (p.Pro253=)	GBF1, LOC130004591 +1 more	Single nucleotide variant (synonymous variant +1 more)	PITX3-related disorder	GLikely benign
Select item 665913	NM_005029.4(PITX3):c.726CGC[6] (p.Ala250dup)	GBF1, LOC130004591 +1 more	Microsatellite (inframe_insertion)	not provided	GUncertain significance
Select item 2607847	NM_005029.4(PITX3):c.740C>T (p.Ala247Val)	GBF1, LOC130004591 +1 more (A247V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3352011	NM_005029.4(PITX3):c.738C>T (p.Ala246=)	GBF1, LOC130004591 +1 more	Single nucleotide variant (synonymous variant +1 more)	PITX3-related disorder	GLikely benign
Select item 2635698	NM_005029.4(PITX3):c.703G>A (p.Val235Met)	GBF1, LOC130004591 +1 more (V235M)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2079724	NM_005029.4(PITX3):c.699G>A (p.Gly233=)	GBF1, LOC130004591 +1 more	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2412872	NM_005029.4(PITX3):c.682G>A (p.Ala228Thr)	GBF1, LOC130004591 +1 more (A228T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3213322	NM_005029.4(PITX3):c.677C>A (p.Ala226Asp)	GBF1, LOC130004591 +1 more (A226D)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2361463	NM_005029.4(PITX3):c.677C>T (p.Ala226Val)	GBF1, LOC130004591 +1 more (A226V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3340189	NM_005029.4(PITX3):c.669del (p.Leu225fs)	GBF1, PITX3 (L225fs)	Deletion (frameshift variant +1 more)	not provided	GUncertain significance
Select item 2968291	NM_005029.4(PITX3):c.669C>T (p.Pro223=)	GBF1, PITX3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3025816	NM_005029.4(PITX3):c.662G>C (p.Gly221Ala)	GBF1, PITX3 (G221A)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2894634	NM_005029.4(PITX3):c.661G>A (p.Gly221Ser)	GBF1, PITX3 (G221S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 468353	NM_005029.4(PITX3):c.640_656dup (p.Gly220fs)	GBF1, PITX3 (G220fs)	Duplication (frameshift variant)	Cataract 11 multiple types +1 more	GPathogenic
Select item 468252	NM_005029.4(PITX3):c.640_656del (p.Ala214fs)	GBF1, PITX3 (A214fs)	Deletion (frameshift variant)	Anterior segment dysgenesis 1 +2 more	GPathogenic/Likely pathogenic
Select item 6939	NM_005029.4(PITX3):c.650del (p.Gly217fs)	PITX3, GBF1 (G217fs)	Deletion (frameshift variant)	Cataract 11, posterior polar +1 more	GPathogenic
Select item 372897	NM_005029.4(PITX3):c.646C>T (p.Gln216Ter)	GBF1, PITX3 (Q216*)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 1456216	NM_005029.4(PITX3):c.636_637dup (p.Gly213fs)	GBF1, PITX3 (G213fs)	Duplication (frameshift variant +1 more)	not provided	GPathogenic
Select item 3358566	NM_005029.4(PITX3):c.630A>C (p.Pro210=)	GBF1, PITX3	Single nucleotide variant (synonymous variant +1 more)	PITX3-related disorder	GLikely benign
Select item 1500829	NM_005029.4(PITX3):c.617del (p.Pro206fs)	GBF1, PITX3 (P206fs)	Deletion (frameshift variant +1 more)	not provided	GUncertain significance
Select item 2722578	NM_005029.4(PITX3):c.586G>A (p.Ala196Thr)	GBF1, PITX3 (A196T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2483932	NM_005029.4(PITX3):c.524A>C (p.Asn175Thr)	GBF1, PITX3 (N175T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3030213	NM_005029.4(PITX3):c.483T>G (p.Leu161=)	GBF1, PITX3	Single nucleotide variant (synonymous variant +1 more)	PITX3-related disorder	GLikely benign
Select item 3306752	NM_005029.4(PITX3):c.469C>T (p.Pro157Ser)	GBF1, PITX3 (P157S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3213321	NM_005029.4(PITX3):c.464A>G (p.Asn155Ser)	GBF1, PITX3 (N155S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3352583	NM_005029.4(PITX3):c.456G>T (p.Ser152=)	GBF1, PITX3	Single nucleotide variant (synonymous variant +1 more)	PITX3-related disorder	GLikely benign
Select item 1035812	NM_005029.4(PITX3):c.448G>T (p.Gly150Cys)	GBF1, PITX3 (G150C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2040191	NM_005029.4(PITX3):c.445C>A (p.Pro149Thr)	GBF1, PITX3 (P149T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2836795	NM_005029.4(PITX3):c.441G>T (p.Val147=)	GBF1, PITX3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 468251	NM_005029.4(PITX3):c.414G>T (p.Gly138=)	GBF1, PITX3	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 1306042	NM_005029.4(PITX3):c.397T>C (p.Phe133Leu)	GBF1, PITX3 (F133L)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 583055	NM_005029.4(PITX3):c.388A>T (p.Lys130Ter)	GBF1, PITX3 (K130*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2190037	NM_005029.4(PITX3):c.322-11C>G	GBF1, PITX3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1218752	NM_005029.4(PITX3):c.322-132C>G	GBF1, PITX3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1246648	NM_005029.4(PITX3):c.321+142C>G	GBF1, PITX3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 671634	NM_005029.4(PITX3):c.285C>A (p.Ile95=)	GBF1, PITX3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 196404	NM_005029.4(PITX3):c.285C>T (p.Ile95=)	GBF1, PITX3	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign
Select item 3213319	NM_005029.4(PITX3):c.269G>C (p.Ser90Thr)	GBF1, PITX3 (S90T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2640787	NM_005029.4(PITX3):c.234G>A (p.Glu78=)	GBF1, PITX3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3015982	NM_005029.4(PITX3):c.185A>G (p.Gln62Arg)	GBF1, PITX3 (Q62R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2434868	NM_005029.4(PITX3):c.181A>C (p.Lys61Gln)	GBF1, PITX3 (K61Q)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3213318	NM_005029.4(PITX3):c.114C>A (p.His38Gln)	GBF1, PITX3 (H38Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1301674	NM_005029.4(PITX3):c.88G>A (p.Glu30Lys)	GBF1, PITX3 (E30K)	Single nucleotide variant (missense variant +1 more)	Anterior segment dysgenesis 1	GUncertain significance
Select item 1025063	NM_005029.4(PITX3):c.55T>A (p.Ser19Thr)	GBF1, PITX3 (S19T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 283807	NM_005029.4(PITX3):c.42T>C (p.Pro14=)	GBF1, PITX3	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 6938	NM_005029.4(PITX3):c.38G>A (p.Ser13Asn)	GBF1, PITX3 (S13N)	Single nucleotide variant (missense variant)	Cataract 11 multiple types	GPathogenic
Select item 2146233	NM_005029.4(PITX3):c.34C>G (p.Arg12Gly)	GBF1, PITX3 (R12G)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3306754	NM_005029.4(PITX3):c.32C>A (p.Ala11Asp)	GBF1, PITX3 (A11D)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3015864	NM_005029.4(PITX3):c.32C>T (p.Ala11Val)	GBF1, PITX3 (A11V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2234383	NM_005029.4(PITX3):c.14T>C (p.Leu5Pro)	GBF1, PITX3 (L5P)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1286452	NM_005029.4(PITX3):c.-12-273A>G	GBF1, PITX3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3342255	Single allele	ACTR1A, ARL3 +35 more	Deletion	See cases	GPathogenic
Select item 3063164	GRCh37/hg19 10q23.33-26.3(chr10:95078198-135427143)x3	ABCC2, ABLIM1 +293 more	Copy number gain	not specified	GPathogenic
Select item 2574696	GRCh37/hg19 10p14-q26.3(chr10:11138692-135427143)	AGAP5, CRTAC1 +682 more	Copy number gain	Distal trisomy 10q	GPathogenic
Select item 2574686	GRCh37/hg19 10p13-q26.3(chr10:12829206-135427143)	ABRAXAS2, CHCHD1 +673 more	Copy number loss	Distal 10q deletion syndrome	GPathogenic
Select item 2424090	NC_000010.10:g.(?_99344461)_(105992004_?)dup	CPN1, CRTAC1 +95 more	Duplication	not provided	GUncertain significance
Select item 563802	GRCh37/hg19 10q23.33-26.3(chr10:94346520-135427143)x3	ABCC2, ABLIM1 +298 more	Copy number gain	not provided	GPathogenic
Select item 563771	GRCh37/hg19 10q24.32-24.33(chr10:103891057-105339973)x1	NT5C2, WBP1L +30 more	Copy number loss	not provided	GLikely pathogenic
Select item 523165	GRCh37/hg19 10q11.21-26.3(chr10:42347406-135534747)x1	COX15, CPEB3 +569 more	Copy number loss	Poly (ADP-Ribose) polymerase inhibitor response	Gdrug response
Select item 443323	GRCh37/hg19 10q23.32-26.3(chr10:93283493-135427143)x3	ABCC2, ABLIM1 +305 more	Copy number gain	See cases	GPathogenic
Select item 441987	GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)	INA, INPP5A +721 more	Copy number gain	See cases	GPathogenic
Select item 441986	GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)x3	A1CF, ABCC2 +721 more	Copy number gain	See cases	GPathogenic
Select item 393995	GRCh37/hg19 10p15.3-q26.3(chr10:93297-135378918)x3	A1CF, ABCC2 +722 more	Copy number gain	See cases	GPathogenic
Select item 377387	GRCh37/hg19 10q23.1-25.1(chr10:85557432-105804295)x1	CYP17A1, KLLN +206 more	Copy number loss	Poly (ADP-Ribose) polymerase inhibitor response	Gdrug response
Select item 253479	GRCh37/hg19 10q24.32-26.3(chr10:103288313-135512075)x3	ABLIM1, ABRAXAS2 +201 more	Copy number gain	See cases	GPathogenic

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Items: 73