ClinVar for Gene (Select 1545) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3371316	NM_000104.4(CYP1B1):c.1048C>G (p.Pro350Ala)	CYP1B1 (P350A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3366335	NM_000104.4(CYP1B1):c.1314G>A (p.Glu438=)	CYP1B1, LOC128772254	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3364753	NM_000104.4(CYP1B1):c.1043+2dup	CYP1B1	Duplication (splice donor variant)	not provided	GUncertain significance
Select item 3364236	NM_000104.4(CYP1B1):c.640T>A (p.Tyr214Asn)	CYP1B1 (Y214N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3340036	NM_000104.4(CYP1B1):c.1195A>G (p.Ile399Val)	CYP1B1 (I399V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3339803	NM_000104.4(CYP1B1):c.781T>C (p.Phe261Leu)	CYP1B1 (F261L)	Single nucleotide variant (missense variant)	Primary congenital glaucoma	GLikely pathogenic
Select item 3339234	NM_000104.4(CYP1B1):c.731T>C (p.Met244Thr)	CYP1B1 (M244T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3339205	NM_000104.4(CYP1B1):c.71T>G (p.Leu24Arg)	CYP1B1 (L24R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3335955	NM_000104.4(CYP1B1):c.369C>G (p.Phe123Leu)	CYP1B1 (F123L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3270503	NM_000104.4(CYP1B1):c.1252A>G (p.Thr418Ala)	CYP1B1 (T418A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3270502	NM_000104.4(CYP1B1):c.967A>G (p.Thr323Ala)	CYP1B1 (T323A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3270501	NM_000104.4(CYP1B1):c.1364A>T (p.Asp455Val)	CYP1B1, LOC128772254 (D455V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3270500	NM_000104.4(CYP1B1):c.477G>T (p.Gln159His)	CYP1B1 (Q159H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3251815	NM_000104.4(CYP1B1):c.171G>C (p.Trp57Cys)	CYP1B1 (W57C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3251563	NM_000104.4(CYP1B1):c.352C>T (p.Pro118Ser)	CYP1B1 (P118S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 3251332	NM_000104.4(CYP1B1):c.80T>C (p.Leu27Pro)	CYP1B1 (L27P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3241270	NM_000104.4(CYP1B1):c.648del (p.His216fs)	CYP1B1 (H216fs)	Deletion (frameshift variant)	Anterior segment dysgenesis 6	GLikely pathogenic
Select item 3241269	NM_000104.4(CYP1B1):c.501_517dup (p.Glu173delinsGlyAlaThrCysTer)	CYP1B1	Duplication (nonsense)	Anterior segment dysgenesis 6	GLikely pathogenic
Select item 3241268	NM_000104.4(CYP1B1):c.1119_1120dup (p.Asp374fs)	CYP1B1 (D374fs)	Duplication (frameshift variant)	Anterior segment dysgenesis 6	GLikely pathogenic
Select item 3241267	NM_000104.4(CYP1B1):c.1043_1043+5delinsC	CYP1B1	Indel (splice donor variant)	Anterior segment dysgenesis 6	GLikely pathogenic
Select item 3241266	NM_000104.4(CYP1B1):c.296del (p.Gly99fs)	CYP1B1 (G99fs)	Deletion (frameshift variant)	Anterior segment dysgenesis 6	GLikely pathogenic
Select item 3236697	NM_000104.4(CYP1B1):c.1333T>A (p.Phe445Ile)	CYP1B1, LOC128772254 (F445I)	Single nucleotide variant (missense variant)	Primary congenital glaucoma +1 more	GPathogenic/Likely pathogenic
Select item 3236696	NM_000104.4(CYP1B1):c.1147G>A (p.Ala383Thr)	CYP1B1 (A383T)	Single nucleotide variant (missense variant)	Glaucoma 3A +1 more	GLikely pathogenic
Select item 3236694	NM_000104.4(CYP1B1):c.1139A>G (p.Tyr380Cys)	CYP1B1 (Y380C)	Single nucleotide variant (missense variant)	Glaucoma 3A +1 more	GLikely pathogenic
Select item 3236111	NM_000104.4(CYP1B1):c.83C>A (p.Ser28Ter)	CYP1B1 (S28*)	Single nucleotide variant (nonsense)	Glaucoma 3A	GPathogenic
Select item 3233955	NM_000104.4(CYP1B1):c.1412T>C (p.Ile471Thr)	CYP1B1, LOC128772254 (I471T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3079392	NM_000104.4(CYP1B1):c.664C>G (p.Arg222Gly)	CYP1B1 (R222G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3079391	NM_000104.4(CYP1B1):c.308T>G (p.Ile103Ser)	CYP1B1 (I103S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3079390	NM_000104.4(CYP1B1):c.214C>T (p.Leu72Phe)	CYP1B1 (L72F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3079389	NM_000104.4(CYP1B1):c.1556A>C (p.Asn519Thr)	CYP1B1 (N519T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3079388	NM_000104.4(CYP1B1):c.1453T>C (p.Ser485Pro)	CYP1B1 (S485P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3079386	NM_000104.4(CYP1B1):c.1081G>C (p.Asp361His)	CYP1B1 (D361H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3079385	NM_000104.4(CYP1B1):c.1072G>A (p.Ala358Thr)	CYP1B1 (A358T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3062647	GRCh37/hg19 2p23.1-21(chr2:30814984-42798684)x1	ARHGEF33, ATL2 +52 more	Copy number loss	not specified	GPathogenic
Select item 3031547	NM_000104.4(CYP1B1):c.996G>A (p.Gln332=)	CYP1B1	Single nucleotide variant (synonymous variant)	CYP1B1-related disorder	GLikely benign
Select item 3021257	NM_000104.4(CYP1B1):c.705G>A (p.Val235=)	CYP1B1	Single nucleotide variant (synonymous variant)	Congenital glaucoma	GLikely benign
Select item 3019769	NM_000104.4(CYP1B1):c.312C>T (p.His104=)	CYP1B1	Single nucleotide variant (synonymous variant)	Congenital glaucoma	GLikely benign
Select item 3018991	NM_000104.4(CYP1B1):c.660G>A (p.Glu220=)	CYP1B1	Single nucleotide variant (synonymous variant)	Congenital glaucoma	GLikely benign
Select item 3018242	NM_000104.4(CYP1B1):c.1182T>C (p.Phe394=)	CYP1B1	Single nucleotide variant (synonymous variant)	Congenital glaucoma	GLikely benign
Select item 3018065	NM_000104.4(CYP1B1):c.336G>T (p.Ser112=)	CYP1B1	Single nucleotide variant (synonymous variant)	Congenital glaucoma	GLikely benign
Select item 3017190	NM_000104.4(CYP1B1):c.1068G>T (p.Val356=)	CYP1B1	Single nucleotide variant (synonymous variant)	Congenital glaucoma	GLikely benign
Select item 3016368	NM_000104.4(CYP1B1):c.783C>T (p.Phe261=)	CYP1B1	Single nucleotide variant (synonymous variant)	Congenital glaucoma	GLikely benign
Select item 3016175	NM_000104.4(CYP1B1):c.153C>G (p.Pro51=)	CYP1B1	Single nucleotide variant (synonymous variant)	Congenital glaucoma	GLikely benign
Select item 3014810	NM_000104.4(CYP1B1):c.201C>G (p.Gly67=)	CYP1B1	Single nucleotide variant (synonymous variant)	Congenital glaucoma	GLikely benign
Select item 3014527	NM_000104.4(CYP1B1):c.1377A>G (p.Arg459=)	CYP1B1, LOC128772254	Single nucleotide variant (synonymous variant)	Congenital glaucoma	GLikely benign
Select item 3012154	NM_000104.4(CYP1B1):c.696G>A (p.Gly232=)	CYP1B1	Single nucleotide variant (synonymous variant)	Congenital glaucoma	GLikely benign
Select item 3007325	NM_000104.4(CYP1B1):c.1044-16A>T	CYP1B1	Single nucleotide variant (intron variant)	Congenital glaucoma	GLikely benign
Select item 3007005	NM_000104.4(CYP1B1):c.1473C>T (p.Cys491=)	CYP1B1	Single nucleotide variant (synonymous variant)	Congenital glaucoma	GLikely benign
Select item 3005909	NM_000104.4(CYP1B1):c.1416C>T (p.Gly472=)	CYP1B1, LOC128772254	Single nucleotide variant (synonymous variant)	Congenital glaucoma	GLikely benign
Select item 3004084	NM_000104.4(CYP1B1):c.933T>G (p.Gly311=)	CYP1B1	Single nucleotide variant (synonymous variant)	Congenital glaucoma	GLikely benign
Select item 3002820	NM_000104.4(CYP1B1):c.21G>T (p.Pro7=)	CYP1B1	Single nucleotide variant (synonymous variant)	Congenital glaucoma	GLikely benign
Select item 3000535	NM_000104.4(CYP1B1):c.987C>T (p.Gly329=)	CYP1B1	Single nucleotide variant (synonymous variant)	Congenital glaucoma	GLikely benign
Select item 3000189	NM_000104.4(CYP1B1):c.261C>T (p.Ile87=)	CYP1B1	Single nucleotide variant (synonymous variant)	Congenital glaucoma	GLikely benign
Select item 3000025	NM_000104.4(CYP1B1):c.243C>T (p.Tyr81=)	CYP1B1	Single nucleotide variant (synonymous variant)	Congenital glaucoma	GLikely benign
Select item 2997090	NM_000104.4(CYP1B1):c.1015C>T (p.Leu339=)	CYP1B1	Single nucleotide variant (synonymous variant)	Congenital glaucoma	GLikely benign
Select item 2996888	NM_000104.4(CYP1B1):c.513G>A (p.Leu171=)	CYP1B1	Single nucleotide variant (synonymous variant)	Congenital glaucoma	GLikely benign
Select item 2996356	NM_000104.4(CYP1B1):c.1223_1224del (p.Ser408fs)	CYP1B1 (S408fs)	Microsatellite (frameshift variant)	Congenital glaucoma +1 more	GPathogenic/Likely pathogenic
Select item 2993666	NM_000104.4(CYP1B1):c.618T>C (p.Ser206=)	CYP1B1	Single nucleotide variant (synonymous variant)	Congenital glaucoma	GLikely benign
Select item 2993586	NM_000104.4(CYP1B1):c.501G>A (p.Glu167=)	CYP1B1	Single nucleotide variant (synonymous variant)	Congenital glaucoma	GLikely benign
Select item 2991326	NM_000104.4(CYP1B1):c.321G>A (p.Leu107=)	CYP1B1	Single nucleotide variant (synonymous variant)	Congenital glaucoma	GLikely benign
Select item 2989514	NM_000104.4(CYP1B1):c.1068G>A (p.Val356=)	CYP1B1	Single nucleotide variant (synonymous variant)	Congenital glaucoma	GLikely benign
Select item 2988516	NM_000104.4(CYP1B1):c.958G>C (p.Val320Leu)	CYP1B1 (V320L)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 2988004	NM_000104.4(CYP1B1):c.345C>T (p.Ala115=)	CYP1B1	Single nucleotide variant (synonymous variant)	Congenital glaucoma	GLikely benign
Select item 2987555	NM_000104.4(CYP1B1):c.1299G>A (p.Lys433=)	CYP1B1, LOC128772254	Single nucleotide variant (synonymous variant)	Congenital glaucoma	GLikely benign
Select item 2984231	NM_000104.4(CYP1B1):c.694G>A (p.Gly232Arg)	CYP1B1 (G232R)	Single nucleotide variant (missense variant)	Congenital glaucoma +1 more	GConflicting classifications of pathogenicity
Select item 2983517	NM_000104.4(CYP1B1):c.543G>A (p.Leu181=)	CYP1B1	Single nucleotide variant (synonymous variant)	Congenital glaucoma	GLikely benign
Select item 2975721	NM_000104.4(CYP1B1):c.1043+8C>A	CYP1B1	Single nucleotide variant (intron variant)	Congenital glaucoma	GLikely benign
Select item 2972048	NM_000104.4(CYP1B1):c.1043+2_1043+6del	CYP1B1	Deletion (splice donor variant)	Congenital glaucoma	GLikely pathogenic
Select item 2969480	NM_000104.4(CYP1B1):c.1335C>T (p.Phe445=)	CYP1B1, LOC128772254	Single nucleotide variant (synonymous variant)	Congenital glaucoma	GLikely benign
Select item 2968975	NM_000104.4(CYP1B1):c.1110T>G (p.Pro370=)	CYP1B1	Single nucleotide variant (synonymous variant)	Congenital glaucoma	GLikely benign
Select item 2965152	NM_000104.4(CYP1B1):c.1614C>G (p.Ala538=)	CYP1B1	Single nucleotide variant (synonymous variant)	Congenital glaucoma	GLikely benign
Select item 2962985	NM_000104.4(CYP1B1):c.144G>C (p.Arg48=)	CYP1B1	Single nucleotide variant (synonymous variant)	Congenital glaucoma	GLikely benign
Select item 2961988	NM_000104.4(CYP1B1):c.1500T>C (p.Pro500=)	CYP1B1	Single nucleotide variant (synonymous variant)	Congenital glaucoma	GLikely benign
Select item 2960797	NM_000104.4(CYP1B1):c.1044-8C>T	CYP1B1	Single nucleotide variant (intron variant)	Congenital glaucoma	GLikely benign
Select item 2957718	NM_000104.4(CYP1B1):c.1143C>T (p.Val381=)	CYP1B1	Single nucleotide variant (synonymous variant)	Congenital glaucoma	GLikely benign
Select item 2956819	NM_000104.4(CYP1B1):c.807C>T (p.Ser269=)	CYP1B1	Single nucleotide variant (synonymous variant)	Congenital glaucoma	GLikely benign
Select item 2956037	NM_000104.4(CYP1B1):c.1563T>G (p.Thr521=)	CYP1B1	Single nucleotide variant (synonymous variant)	Congenital glaucoma	GLikely benign
Select item 2955687	NM_000104.4(CYP1B1):c.135G>A (p.Arg45=)	CYP1B1	Single nucleotide variant (synonymous variant)	Congenital glaucoma	GLikely benign
Select item 2920238	NM_000104.4(CYP1B1):c.168G>A (p.Ala56=)	CYP1B1	Single nucleotide variant (synonymous variant)	Congenital glaucoma	GLikely benign
Select item 2919612	NM_000104.4(CYP1B1):c.1011C>A (p.Thr337=)	CYP1B1	Single nucleotide variant (synonymous variant)	Congenital glaucoma	GLikely benign
Select item 2919583	NM_000104.4(CYP1B1):c.12C>T (p.Ser4=)	CYP1B1	Single nucleotide variant (synonymous variant)	Congenital glaucoma	GLikely benign
Select item 2917464	NM_000104.4(CYP1B1):c.240C>T (p.Arg80=)	CYP1B1	Single nucleotide variant (synonymous variant)	Congenital glaucoma	GLikely benign
Select item 2916691	NM_000104.4(CYP1B1):c.159C>A (p.Gly53=)	CYP1B1	Single nucleotide variant (synonymous variant)	Congenital glaucoma	GLikely benign
Select item 2915868	NM_000104.4(CYP1B1):c.1521T>C (p.Tyr507=)	CYP1B1	Single nucleotide variant (synonymous variant)	Congenital glaucoma	GLikely benign
Select item 2914833	NM_000104.4(CYP1B1):c.834G>A (p.Arg278=)	CYP1B1	Single nucleotide variant (synonymous variant)	Congenital glaucoma	GLikely benign
Select item 2914179	NM_000104.4(CYP1B1):c.714C>T (p.Gly238=)	CYP1B1	Single nucleotide variant (synonymous variant)	Congenital glaucoma	GLikely benign
Select item 2912330	NM_000104.4(CYP1B1):c.538C>T (p.Leu180=)	CYP1B1	Single nucleotide variant (synonymous variant)	Congenital glaucoma	GLikely benign
Select item 2911966	NM_000104.4(CYP1B1):c.79C>T (p.Leu27=)	CYP1B1	Single nucleotide variant (synonymous variant)	Congenital glaucoma	GLikely benign
Select item 2911674	NM_000104.4(CYP1B1):c.1362G>A (p.Lys454=)	CYP1B1, LOC128772254	Single nucleotide variant (synonymous variant)	Congenital glaucoma	GLikely benign
Select item 2911599	NM_000104.4(CYP1B1):c.1043+7C>A	CYP1B1	Single nucleotide variant (intron variant)	Congenital glaucoma	GLikely benign
Select item 2911517	NM_000104.4(CYP1B1):c.180C>T (p.Ile60=)	CYP1B1	Single nucleotide variant (synonymous variant)	Congenital glaucoma	GLikely benign
Select item 2906262	NM_000104.4(CYP1B1):c.6C>A (p.Gly2=)	CYP1B1	Single nucleotide variant (synonymous variant)	Congenital glaucoma	GLikely benign
Select item 2902810	NM_000104.4(CYP1B1):c.1044-19C>T	CYP1B1	Single nucleotide variant (intron variant)	Congenital glaucoma	GLikely benign
Select item 2901058	NM_000104.4(CYP1B1):c.336G>C (p.Ser112=)	CYP1B1	Single nucleotide variant (synonymous variant)	Congenital glaucoma	GLikely benign
Select item 2900987	NM_000104.4(CYP1B1):c.189G>C (p.Ala63=)	CYP1B1	Single nucleotide variant (synonymous variant)	Congenital glaucoma	GLikely benign
Select item 2897697	NM_000104.4(CYP1B1):c.81G>C (p.Leu27=)	CYP1B1	Single nucleotide variant (synonymous variant)	Congenital glaucoma	GLikely benign
Select item 2895658	NM_000104.4(CYP1B1):c.783C>G (p.Phe261Leu)	CYP1B1 (F261L)	Single nucleotide variant (missense variant)	Congenital glaucoma	GLikely pathogenic
Select item 2893291	NM_000104.4(CYP1B1):c.1530C>G (p.Thr510=)	CYP1B1	Single nucleotide variant (synonymous variant)	Congenital glaucoma	GLikely benign
Select item 2893205	NM_000104.4(CYP1B1):c.147C>T (p.Ser49=)	CYP1B1	Single nucleotide variant (synonymous variant)	Congenital glaucoma	GLikely benign

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