ClinVar for MedGen (Select 288550) - ClinVar

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Items: 38

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3251434	NM_000104.4(CYP1B1):c.1412T>G (p.Ile471Ser)	CYP1B1, LOC128772254 (I471S)	Single nucleotide variant (missense variant)	Primary congenital glaucoma	GLikely pathogenic
Select item 2637448	NM_000104.4(CYP1B1):c.277_306delinsGG (p.Pro93fs)	CYP1B1 (P93fs)	Indel (frameshift variant)	Primary congenital glaucoma +1 more	GPathogenic/Likely pathogenic
Select item 2577219	NM_000104.4(CYP1B1):c.317C>A (p.Ala106Asp)	CYP1B1 (A106D)	Single nucleotide variant (missense variant)	Anterior segment dysgenesis 6 +2 more	GPathogenic
Select item 2203049	NM_000104.4(CYP1B1):c.988_989delinsTT (p.Ala330Phe)	CYP1B1 (A330F)	Indel (missense variant)	Primary congenital glaucoma +2 more	GPathogenic
Select item 2203048	NM_000104.4(CYP1B1):c.1168C>A (p.Arg390Ser)	CYP1B1 (R390S)	Single nucleotide variant (missense variant)	Anterior segment dysgenesis 6 +2 more	GPathogenic
Select item 1412564	NM_000104.4(CYP1B1):c.1063C>T (p.Arg355Ter)	CYP1B1 (R355*)	Single nucleotide variant (nonsense)	Congenital glaucoma +2 more	GPathogenic
Select item 1339669	NM_000104.4(CYP1B1):c.970_971dup (p.Thr325fs)	CYP1B1 (T325fs)	Duplication (frameshift variant)	Anterior segment dysgenesis 6 +2 more	GPathogenic
Select item 1339668	NM_000104.4(CYP1B1):c.1090G>A (p.Val364Met)	CYP1B1 (V364M)	Single nucleotide variant (missense variant)	Anterior segment dysgenesis 6 +2 more	GPathogenic
Select item 1338800	NM_000104.4(CYP1B1):c.710C>A (p.Ala237Glu)	CYP1B1 (A237E)	Single nucleotide variant (missense variant)	Primary congenital glaucoma +1 more	GPathogenic/Likely pathogenic
Select item 1203967	NM_000104.4(CYP1B1):c.1A>G (p.Met1Val)	CYP1B1 (M1V)	Single nucleotide variant (missense variant +1 more)	Primary congenital glaucoma +1 more	GPathogenic/Likely pathogenic
Select item 1172842	NM_000104.4(CYP1B1):c.578C>T (p.Pro193Leu)	CYP1B1 (P193L)	Single nucleotide variant (missense variant)	Primary congenital glaucoma +3 more	GLikely pathogenic
Select item 917724	NM_000104.4(CYP1B1):c.517G>A (p.Glu173Lys)	CYP1B1 (E173K)	Single nucleotide variant (missense variant)	Primary congenital glaucoma +2 more	GPathogenic
Select item 632362	NM_000104.4(CYP1B1):c.985G>A (p.Gly329Ser)	CYP1B1 (G329S)	Single nucleotide variant (missense variant)	Glaucoma 3A +3 more	GPathogenic/Likely pathogenic
Select item 592512	NM_000104.4(CYP1B1):c.1169G>A (p.Arg390His)	CYP1B1 (R390H)	Single nucleotide variant (missense variant)	Primary congenital glaucoma +4 more	GPathogenic/Likely pathogenic
Select item 335962	NM_000104.4(CYP1B1):c.-360G>C	CYP1B1, LOC110599580	Single nucleotide variant (5 prime UTR variant)	Irido-corneo-trabecular dysgenesis +1 more	GUncertain significance
Select item 335961	NM_000104.4(CYP1B1):c.-197C>G	CYP1B1	Single nucleotide variant (5 prime UTR variant)	Primary congenital glaucoma +1 more	GUncertain significance
Select item 335960	NM_000104.4(CYP1B1):c.-97dup	CYP1B1	Duplication (5 prime UTR variant)	not provided +2 more	GBenign
Select item 335956	NM_000104.4(CYP1B1):c.-1-10C>T	CYP1B1	Single nucleotide variant (intron variant)	Irido-corneo-trabecular dysgenesis +1 more	GUncertain significance
Select item 335954	NM_000104.4(CYP1B1):c.763C>T (p.Arg255Cys)	CYP1B1 (R255C)	Single nucleotide variant (missense variant)	Irido-corneo-trabecular dysgenesis +1 more	GUncertain significance
Select item 335952	NM_000104.4(CYP1B1):c.1168C>T (p.Arg390Cys)	CYP1B1 (R390C)	Single nucleotide variant (missense variant)	Anterior segment dysgenesis 6 +4 more	GPathogenic
Select item 335945	NM_000104.4(CYP1B1):c.*210dup	CYP1B1	Duplication (3 prime UTR variant)	Irido-corneo-trabecular dysgenesis +2 more	GBenign
Select item 335938	NM_000104.4(CYP1B1):c.*867dup	CYP1B1	Duplication (3 prime UTR variant)	Primary congenital glaucoma +1 more	GUncertain significance
Select item 335937	NM_000104.4(CYP1B1):c.*879del	CYP1B1	Deletion (3 prime UTR variant)	Primary congenital glaucoma +1 more	GUncertain significance
Select item 335934	NM_000104.4(CYP1B1):c.*1005C>T	CYP1B1	Single nucleotide variant (3 prime UTR variant)	Irido-corneo-trabecular dysgenesis +1 more	GUncertain significance
Select item 335933	NM_000104.4(CYP1B1):c.*1027del	CYP1B1	Deletion (3 prime UTR variant)	Irido-corneo-trabecular dysgenesis +1 more	GUncertain significance
Select item 335928	NM_000104.4(CYP1B1):c.*1173del	CYP1B1	Deletion (3 prime UTR variant)	Irido-corneo-trabecular dysgenesis +1 more	GUncertain significance
Select item 335917	NM_000104.4(CYP1B1):c.*2151T>C	CYP1B1	Single nucleotide variant (3 prime UTR variant)	Irido-corneo-trabecular dysgenesis +1 more	GUncertain significance
Select item 335914	NM_000104.4(CYP1B1):c.*2314dup	CYP1B1	Duplication (3 prime UTR variant)	Irido-corneo-trabecular dysgenesis +1 more	GUncertain significance
Select item 335913	NM_000104.4(CYP1B1):c.*2333G>A	CYP1B1	Single nucleotide variant (3 prime UTR variant)	Irido-corneo-trabecular dysgenesis +1 more	GUncertain significance
Select item 314280	NM_000428.3(LTBP2):c.3753C>T (p.Ser1251=)	LTBP2	Single nucleotide variant (synonymous variant)	Primary congenital glaucoma +1 more	GUncertain significance
Select item 314264	NM_000428.3(LTBP2):c.*10dup	LTBP2	Duplication (3 prime UTR variant)	Weill-Marchesani syndrome +5 more	GUncertain significance
Select item 314249	NM_000428.3(LTBP2):c.1518_1520dup	LTBP2	Duplication (3 prime UTR variant)	Primary congenital glaucoma +1 more	GUncertain significance
Select item 314247	NM_000428.3(LTBP2):c.*1743C>T	LTBP2	Single nucleotide variant (3 prime UTR variant)	Weill-Marchesani syndrome +1 more	GUncertain significance
Select item 9159	NM_153766.3(KCNJ1):c.535G>A (p.Ala179Thr)	KCNJ1 (A198T +2 more)	Single nucleotide variant (missense variant)	Primary congenital glaucoma +2 more	GLikely pathogenic
Select item 7743	NM_000104.4(CYP1B1):c.1267A>T (p.Asn423Tyr)	CYP1B1 (N423Y)	Single nucleotide variant (missense variant)	Congenital glaucoma +1 more	GLikely pathogenic
Select item 7736	NM_000104.4(CYP1B1):c.2T>C (p.Met1Thr)	CYP1B1 (M1T)	Single nucleotide variant (missense variant +1 more)	Congenital glaucoma +1 more	GPathogenic/Likely pathogenic
Select item 7735	NM_000104.4(CYP1B1):c.1159G>A (p.Glu387Lys)	CYP1B1 (E387K)	Single nucleotide variant (missense variant)	not provided +6 more	GPathogenic/Likely pathogenic
Select item 7733	NM_000104.4(CYP1B1):c.1405C>T (p.Arg469Trp)	CYP1B1, LOC128772254 (R469W)	Single nucleotide variant (missense variant)	not provided +4 more	GPathogenic

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Items: 38