ClinVar for MedGen (Select 816133) - ClinVar

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Items: 52

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3377400	NM_000965.5(RARB):c.1199C>T (p.Pro400Leu)	RARB (P288L +5 more)	Single nucleotide variant (missense variant +1 more)	Microphthalmia, syndromic 12	GLikely pathogenic
Select item 3376953	NM_000965.5(RARB):c.640G>T (p.Asp214Tyr)	RARB (D165Y +4 more)	Single nucleotide variant (missense variant +1 more)	Microphthalmia, syndromic 12	GLikely pathogenic
Select item 2879458	NM_000965.5(RARB):c.991+11T>C	RARB	Single nucleotide variant (intron variant)	Microphthalmia, syndromic 12	GBenign
Select item 2864142	NM_000965.5(RARB):c.306+7A>G	RARB	Single nucleotide variant (intron variant)	Microphthalmia, syndromic 12	GLikely benign
Select item 2841110	NM_000965.5(RARB):c.683G>T (p.Cys228Phe)	RARB (C116F +4 more)	Single nucleotide variant (missense variant +1 more)	Microphthalmia, syndromic 12	GUncertain significance
Select item 2807006	NM_000965.5(RARB):c.545A>G (p.Glu182Gly)	RARB (E133G +4 more)	Single nucleotide variant (missense variant +1 more)	Microphthalmia, syndromic 12	GUncertain significance
Select item 2801261	NM_000965.5(RARB):c.646G>A (p.Gly216Ser)	RARB (G104S +4 more)	Single nucleotide variant (missense variant +1 more)	Microphthalmia, syndromic 12	GUncertain significance
Select item 2770133	NM_000965.5(RARB):c.158-1G>A	RARB	Single nucleotide variant (splice acceptor variant)	Microphthalmia, syndromic 12	GUncertain significance
Select item 2728037	NM_000965.5(RARB):c.158-7A>G	RARB	Single nucleotide variant (intron variant)	Microphthalmia, syndromic 12	GLikely benign
Select item 2721928	NM_000965.5(RARB):c.1250C>G (p.Thr417Ser)	RARB (T368S +5 more)	Single nucleotide variant (missense variant +1 more)	Microphthalmia, syndromic 12 +1 more	GConflicting classifications of pathogenicity
Select item 2687511	NM_000965.5(RARB):c.157+1895G>A	RARB	Single nucleotide variant (intron variant)	Microphthalmia, syndromic 12	GUncertain significance
Select item 2423443	NC_000003.11:g.(?_25470223)_(25824881_?)del	NGLY1, RARB +1 more	Deletion	Congenital disorder of deglycosylation +1 more	GConflicting classifications of pathogenicity
Select item 1969155	NM_000965.5(RARB):c.634C>T (p.Arg212Ter)	RARB (R169* +4 more)	Single nucleotide variant (nonsense +1 more)	Microphthalmia, syndromic 12	GUncertain significance
Select item 1706544	NM_000965.5(RARB):c.602A>G (p.Tyr201Cys)	RARB (Y152C +4 more)	Single nucleotide variant (missense variant +1 more)	Microphthalmia, syndromic 12	GUncertain significance
Select item 1637726	NM_000965.5(RARB):c.787-18A>G	RARB	Single nucleotide variant (intron variant)	Microphthalmia, syndromic 12	GLikely benign
Select item 1600081	NM_000965.5(RARB):c.920A>C (p.Asn307Thr)	RARB (N195T +4 more)	Single nucleotide variant (missense variant +2 more)	Microphthalmia, syndromic 12	GBenign
Select item 1430485	NM_000965.5(RARB):c.158-15C>A	RARB	Single nucleotide variant (intron variant)	Microphthalmia, syndromic 12	GLikely benign
Select item 1338852	NM_000965.5(RARB):c.881G>T (p.Gly294Val)	RARB (G182V +4 more)	Single nucleotide variant (missense variant +2 more)	Microphthalmia, syndromic 12	GLikely pathogenic
Select item 1328391	NM_000965.5(RARB):c.1181A>G (p.Glu394Gly)	RARB (E282G +5 more)	Single nucleotide variant (missense variant +1 more)	Microphthalmia, syndromic 12	GUncertain significance
Select item 1274651	NM_000965.5(RARB):c.306+19G>A	RARB	Single nucleotide variant (intron variant)	Microphthalmia, syndromic 12 +1 more	GBenign
Select item 1102389	NM_000965.5(RARB):c.264A>T (p.Ser88=)	RARB	Single nucleotide variant (synonymous variant +2 more)	Microphthalmia, syndromic 12	GLikely benign
Select item 1035194	NM_000965.5(RARB):c.224dup (p.Arg76fs)	RARB (R33fs +3 more)	Duplication (frameshift variant +2 more)	Microphthalmia, syndromic 12	GUncertain significance
Select item 988355	NM_000965.5(RARB):c.1193C>G (p.Ser398Ter)	RARB (S286* +5 more)	Single nucleotide variant (nonsense +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 988076	NM_000965.5(RARB):c.1151G>A (p.Gly384Asp)	RARB (G272D +5 more)	Single nucleotide variant (missense variant +1 more)	Microphthalmia, syndromic 12 +1 more	GLikely pathogenic
Select item 936633	NM_000965.5(RARB):c.836T>C (p.Phe279Ser)	RARB (F167S +4 more)	Single nucleotide variant (missense variant +2 more)	Microphthalmia, syndromic 12	GUncertain significance
Select item 870386	NM_000965.5(RARB):c.835T>G (p.Phe279Val)	RARB (F230V +4 more)	Single nucleotide variant (missense variant +2 more)	Microphthalmia, syndromic 12	GLikely pathogenic
Select item 862649	NM_000965.5(RARB):c.806G>C (p.Arg269Thr)	RARB (R157T +4 more)	Single nucleotide variant (missense variant +2 more)	Microphthalmia, syndromic 12	GUncertain significance
Select item 842240	NM_000965.5(RARB):c.841G>T (p.Asp281Tyr)	RARB (D281Y +4 more)	Single nucleotide variant (missense variant +2 more)	Microphthalmia, syndromic 12	GUncertain significance
Select item 830946	NC_000003.12:g.(?_25569738)_(25596636_?)dup	RARB	Duplication	Microphthalmia, syndromic 12	GUncertain significance
Select item 809439	NM_000965.5(RARB):c.1210C>T (p.Gln404Ter)	RARB (Q404* +5 more)	Single nucleotide variant (nonsense +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 800775	NM_000965.5(RARB):c.1180G>T (p.Glu394Ter)	RARB (E282* +5 more)	Single nucleotide variant (nonsense +1 more)	Microphthalmia, syndromic 12	GLikely pathogenic
Select item 783192	NM_000965.5(RARB):c.991+10A>G	RARB	Single nucleotide variant (intron variant)	Microphthalmia, syndromic 12	GLikely benign
Select item 774994	NM_000965.5(RARB):c.1038A>G (p.Glu346=)	RARB	Single nucleotide variant (synonymous variant +1 more)	Microphthalmia, syndromic 12	GLikely benign
Select item 772966	NM_000965.5(RARB):c.270G>A (p.Gly90=)	RARB	Single nucleotide variant (synonymous variant +2 more)	not provided +1 more	GBenign
Select item 767504	NM_000965.5(RARB):c.768C>T (p.Ala256=)	RARB	Single nucleotide variant (synonymous variant +1 more)	Microphthalmia, syndromic 12	GBenign/Likely benign
Select item 755841	NM_000965.5(RARB):c.960C>A (p.Gly320=)	RARB	Single nucleotide variant (synonymous variant +1 more)	Microphthalmia, syndromic 12	GBenign
Select item 746660	NM_000965.5(RARB):c.741C>T (p.Ile247=)	RARB	Single nucleotide variant (synonymous variant +1 more)	Microphthalmia, syndromic 12	GLikely benign
Select item 738015	NM_000965.5(RARB):c.288C>T (p.Ser96=)	RARB	Single nucleotide variant (synonymous variant +2 more)	Microphthalmia, syndromic 12	GLikely benign
Select item 707589	NM_000965.5(RARB):c.158-9C>G	RARB	Single nucleotide variant (intron variant)	Microphthalmia, syndromic 12	GBenign
Select item 707365	NM_000965.5(RARB):c.1316G>C (p.Ser439Thr)	RARB (S327T +5 more)	Single nucleotide variant (missense variant +1 more)	Microphthalmia, syndromic 12	GBenign
Select item 664808	NM_000965.5(RARB):c.851C>T (p.Thr284Ile)	RARB (T235I +4 more)	Single nucleotide variant (missense variant +2 more)	Microphthalmia, syndromic 12 +1 more	GUncertain significance
Select item 567090	NM_000965.5(RARB):c.1211A>C (p.Gln404Pro)	RARB (Q404P +5 more)	Single nucleotide variant (missense variant +1 more)	Microphthalmia, syndromic 12	GUncertain significance
Select item 559901	NM_000965.5(RARB):c.872A>T (p.His291Leu)	RARB (H291L +4 more)	Single nucleotide variant (missense variant +2 more)	Microphthalmia, syndromic 12	GLikely pathogenic
Select item 541542	NM_000965.5(RARB):c.410G>A (p.Arg137Gln)	RARB (R137Q +4 more)	Single nucleotide variant (missense variant +1 more)	Microphthalmia, syndromic 12	GUncertain significance
Select item 488977	NM_000965.5(RARB):c.409C>T (p.Arg137Ter)	RARB (R137* +4 more)	Single nucleotide variant (nonsense +1 more)	Microphthalmia, syndromic 12 +1 more	GUncertain significance
Select item 474675	NM_000965.5(RARB):c.1155A>G (p.Ala385=)	RARB	Single nucleotide variant (synonymous variant +1 more)	Microphthalmia, syndromic 12 +1 more	GBenign
Select item 218339	NM_000965.5(RARB):c.638T>C (p.Leu213Pro)	RARB (L213P +4 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 218338	NM_000965.5(RARB):c.887G>C (p.Gly296Ala)	RARB (G296A +4 more)	Single nucleotide variant (missense variant +2 more)	Microphthalmia, syndromic 12	GLikely pathogenic
Select item 88763	NM_000965.5(RARB):c.1159C>A (p.Arg387Ser)	RARB (R387S +5 more)	Single nucleotide variant (missense variant +1 more)	Microphthalmia, syndromic 12	GPathogenic
Select item 88762	NM_000965.5(RARB):c.1159C>T (p.Arg387Cys)	RARB (R387C +5 more)	Single nucleotide variant (missense variant +1 more)	Intellectual disability, autosomal dominant 48 +3 more	GPathogenic/Likely pathogenic
Select item 88761	NM_000965.5(RARB):c.1205_1206dup (p.Ile403fs)	RARB (I291fs +5 more)	Microsatellite (frameshift variant +1 more)	Microphthalmia, syndromic 12	GPathogenic
Select item 88760	NM_000965.5(RARB):c.355C>T (p.Arg119Ter)	RARB (R119* +4 more)	Single nucleotide variant (nonsense +1 more)	Microphthalmia, syndromic 12	GPathogenic

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Items: 52