ClinVar for MedGen (Select 39462) - ClinVar

Links from MedGen

Items: 99

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1804039	NM_003571.4(BFSP2):c.449G>A (p.Trp150Ter)	BFSP2 (W150*)	Single nucleotide variant (nonsense)	Strabismus +6 more	GPathogenic
Select item 1704644	NM_004076.5(CRYBB3):c.467G>A (p.Gly156Glu)	CRYBB3 (G156E)	Single nucleotide variant (missense variant)	Cataract +1 more	GPathogenic
Select item 1341682	NM_004431.5(EPHA2):c.41G>A (p.Trp14Ter)	EPHA2, EPHA2-AS1 (W14*)	Single nucleotide variant (5 prime UTR variant +1 more)	Cataract +2 more	GPathogenic
Select item 996037	NM_001144061.2(COPB1):c.1651T>G (p.Phe551Val)	COPB1 (F551V)	Single nucleotide variant (missense variant)	Baralle-Macken syndrome	GPathogenic
Select item 996016	NM_001144061.2(COPB1):c.957+1G>T	COPB1	Single nucleotide variant (splice donor variant)	Baralle-Macken syndrome +3 more	GPathogenic/Likely pathogenic
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 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 902615	NM_153427.2(PITX2):c.-1137G>A	PITX2	Single nucleotide variant (intron variant)	Irido-corneo-trabecular dysgenesis +6 more	GUncertain significance
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 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 902412	NM_153427.2(PITX2):c.-485C>G	PITX2	Single nucleotide variant (intron variant)	Irido-corneo-trabecular dysgenesis +6 more	GBenign
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 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 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
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 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 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 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 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 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 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 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 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 900813	NM_153427.2(PITX2):c.-670C>T	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 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 900657	NM_153427.2(PITX2):c.-300A>T	PITX2	Single nucleotide variant (intron variant)	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 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 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 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 899914	NM_153427.2(PITX2):c.-1422C>A	PITX2	Single nucleotide variant (5 prime UTR variant)	Cataract +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 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 899850	NM_153427.2(PITX2):c.-1209C>T	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 899796	NM_153427.2(PITX2):c.-1078C>A	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 899730	NM_153427.2(PITX2):c.-920C>T	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 899665	NM_153427.2(PITX2):c.-501T>G	PITX2	Single nucleotide variant (intron variant)	PITX2-Related Eye Abnormalities +6 more	GUncertain significance
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 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 899520	NM_153427.2(PITX2):c.-270A>G	PITX2	Single nucleotide variant (intron variant)	PITX2-Related Eye Abnormalities +6 more	GUncertain significance
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 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 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 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 812923	NC_000005.10:g.139189727_139201554del	SIL1	Deletion	Global developmental delay +8 more	GPathogenic
Select item 625113	NM_001161748.2(LIM2):c.388C>T (p.Arg130Cys)	LIM2 (R130C +1 more)	Single nucleotide variant (missense variant)	Cataract 19 multiple types +2 more	GPathogenic/Likely pathogenic
Select item 598996	NM_000379.4(XDH):c.1172C>T (p.Pro391Leu)	XDH (P391L)	Single nucleotide variant (missense variant)	Protein-losing enteropathy +9 more	GUncertain significance
Select item 575136	NM_000264.5(PTCH1):c.3490G>A (p.Val1164Ile)	PTCH1 (V1164I +4 more)	Single nucleotide variant (missense variant +1 more)	Cataract +4 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 523564	NM_172250.3(MMAA):c.304G>A (p.Ala102Thr)	MMAA (A102T)	Single nucleotide variant (missense variant)	Methylmalonic aciduria, cblA type +4 more	GConflicting classifications of pathogenicity
Select item 523493	NM_006755.2(TALDO1):c.328A>G (p.Arg110Gly)	TALDO1 (R110G)	Single nucleotide variant (missense variant)	Microcephaly +3 more	GUncertain significance
Select item 523391	NM_005670.4(EPM2A):c.*1691G>A	EPM2A	Single nucleotide variant (3 prime UTR variant +2 more)	Severe global developmental delay +2 more	GUncertain significance
Select item 523380	NM_000553.6(WRN):c.724+1G>T	WRN	Single nucleotide variant (splice donor variant)	Mask-like facies +6 more	GPathogenic/Likely pathogenic
Select item 523376	NM_000539.3(RHO):c.891C>G (p.Ser297Arg)	RHO (S297R)	Single nucleotide variant (missense variant)	not provided +12 more	GPathogenic
Select item 523328	NM_000093.5(COL5A1):c.608G>T (p.Gly203Val)	COL5A1 (G203V)	Single nucleotide variant (missense variant)	Inguinal hernia +12 more	GLikely pathogenic
Select item 373962	NM_001379500.1(COL18A1):c.929-2A>G	COL18A1	Single nucleotide variant (splice acceptor variant)	not provided	GPathogenic
Select item 373961	NM_001379500.1(COL18A1):c.3448C>T (p.Arg1150Ter)	COL18A1, SLC19A1 (R1327* +2 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
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 347299	NM_000325.6(PITX2):c.412-11del	PITX2	Deletion (intron variant)	Cataract +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 347297	NM_000325.6(PITX2):c.*119T>A	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 347295	NM_000325.6(PITX2):c.*264A>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 347293	NM_000325.6(PITX2):c.*370G>C	PITX2	Single nucleotide variant (3 prime UTR variant)	Cataract +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 347291	NM_000325.6(PITX2):c.*471G>A	PITX2	Single nucleotide variant (3 prime UTR variant)	Cataract +7 more	GBenign/Likely benign
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 347289	NM_000325.6(PITX2):c.*572T>C	PITX2	Single nucleotide variant (3 prime UTR variant)	Cataract +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 343415	NM_003571.4(BFSP2):c.*140del	BFSP2, BFSP2-AS1	Deletion (3 prime UTR variant)	Cataract	GLikely benign
Select item 335760	NM_000379.4(XDH):c.3647C>A (p.Pro1216His)	XDH (P1216H)	Single nucleotide variant (missense variant)	not provided +12 more	GConflicting classifications of pathogenicity
Select item 333880	NM_006891.3(CRYGD):c.-80A>C	CRYGD, LOC100507443	Single nucleotide variant	Cataract	GUncertain significance
Select item 333879	NM_006891.3(CRYGD):c.-77T>C	CRYGD, LOC100507443	Single nucleotide variant	Cataract	GLikely benign
Select item 320194	NM_001538.3(HSF4):c.158_159dupTT	HSF4	Duplication	Cataract	GUncertain significance
Select item 320192	NM_001374675.1(HSF4):c.*30del	HSF4	Deletion (3 prime UTR variant)	Cataract	GUncertain significance
Select item 320164	NM_018378.3(FBXL8):c.807_808dup (p.Val270fs)	FBXL8, HSF4 (V270fs)	Microsatellite (frameshift variant)	Cataract	GLikely benign
Select item 309882	NM_012064.4(MIP):c.*132del	MIP	Deletion (3 prime UTR variant)	Cataract	GUncertain significance
Select item 309881	NM_012064.4(MIP):c.*148dup	MIP	Duplication (3 prime UTR variant)	Cataract +1 more	GConflicting classifications of pathogenicity
Select item 309880	NM_012064.4(MIP):c.*148del	MIP	Deletion (3 prime UTR variant)	Cataract +1 more	GBenign
Select item 309870	NM_012064.4(MIP):c.762_763del	MIP	Deletion (3 prime UTR variant)	Cataract	GBenign
Select item 309865	NM_012064.4(MIP):c.*1201ATT[2]	MIP	Microsatellite (3 prime UTR variant)	Cataract	GLikely benign
Select item 309864	NM_012064.4(MIP):c.1237_1238dup	MIP	Duplication (3 prime UTR variant)	Cataract	GUncertain significance
Select item 309863	NM_012064.4(MIP):c.*1238dup	MIP	Duplication (3 prime UTR variant)	Cataract	GBenign
Select item 309861	NM_012064.4(MIP):c.*1777dup	MIP	Duplication (3 prime UTR variant)	Cataract	GUncertain significance
Select item 284394	NM_080632.3(UPF3B):c.758T>C (p.Ile253Thr)	UPF3B (I253T)	Single nucleotide variant (missense variant)	Cataract +4 more	GConflicting classifications of pathogenicity
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 267868	46;XY;inv(9)(q22.3q34.11)dn		Inversion	Ambiguous genitalia +2 more	GPathogenic
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 196584	NM_153427.3(PITX2):c.46+8C>G	PITX2	Single nucleotide variant (intron variant)	not specified +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 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 167038	NM_005670.4(EPM2A):c.376A>G (p.Ile126Val)	EPM2A (I126V)	Single nucleotide variant (missense variant +2 more)	not provided +7 more	GConflicting classifications of pathogenicity
Select item 156553	NM_018060.4(IARS2):c.2726C>T (p.Pro909Leu)	IARS2 (P909L)	Single nucleotide variant (missense variant)	Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome +4 more	GPathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from MedGen

Items: 99