5309[geneid] - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 65

	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 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 condition	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 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 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)	not provided +1 more	GPathogenic
Select item 468252	NM_005029.4(PITX3):c.640_656del (p.Ala214fs)	GBF1, PITX3 (A214fs)	Deletion (frameshift variant)	not provided	GLikely 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 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 condition	GLikely benign
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 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)	Inborn genetic diseases +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 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 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)	MTG1, NPS +679 more	Copy number gain	Distal trisomy 10q	GPathogenic
Select item 2574686	GRCh37/hg19 10p13-q26.3(chr10:12829206-135427143)	A1CF, ABCC2 +670 more	Copy number loss	Distal 10q deletion syndrome	GPathogenic
Select item 2424090	NC_000010.10:g.(?_99344461)_(105992004_?)dup	ABCC2, ACTR1A +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)	A1CF, ABCC2 +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	BCCIP, BEND7 +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

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 65