ClinVar for Gene (Select 1284) - ClinVar - NCBI

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

Links from Gene

Items: 1 to 100 of 1000

<< First< Prev

Page of 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3380169	NM_001846.4(COL4A2):c.4889C>T (p.Ala1630Val)	COL4A2 (A1630V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3375589	NM_001846.4(COL4A2):c.3425A>G (p.Gln1142Arg)	COL4A2 (Q1142R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3373590	NM_001846.4(COL4A2):c.3398C>G (p.Pro1133Arg)	COL4A2 (P1133R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3373381	NM_001846.4(COL4A2):c.10G>A (p.Asp4Asn)	COL4A2 (D4N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3371830	NM_001846.4(COL4A2):c.2216C>A (p.Pro739His)	COL4A2 (P739H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3370240	NM_001846.4(COL4A2):c.904G>A (p.Gly302Arg)	COL4A2 (G302R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3369032	NM_001846.4(COL4A2):c.4565G>C (p.Gly1522Ala)	COL4A2, COL4A2-AS1 (G1522A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3368192	NM_001846.4(COL4A2):c.548G>A (p.Arg183Gln)	COL4A2 (R183Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3367644	NM_001846.4(COL4A2):c.2758+1G>T	COL4A2	Single nucleotide variant (splice donor variant)	not provided	GUncertain significance
Select item 3366213	NM_001846.4(COL4A2):c.985G>A (p.Gly329Arg)	COL4A2 (G329R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3365649	NM_001846.4(COL4A2):c.4454G>T (p.Ser1485Ile)	COL4A2, COL4A2-AS1 (S1485I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3365428	NM_001846.4(COL4A2):c.1916G>A (p.Gly639Asp)	COL4A2 (G639D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3365180	NM_001846.4(COL4A2):c.3554G>C (p.Gly1185Ala)	COL4A2 (G1185A)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 3364980	NM_001846.4(COL4A2):c.5078T>C (p.Leu1693Pro)	COL4A2 (L1693P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3364914	NM_001846.4(COL4A2):c.2009G>T (p.Gly670Val)	COL4A2 (G670V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3364090	NM_001846.4(COL4A2):c.275A>G (p.Glu92Gly)	COL4A2 (E92G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3363631	NM_001846.4(COL4A2):c.1577C>T (p.Pro526Leu)	COL4A2, COL4A2-AS2 (P526L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3362056	NM_001846.4(COL4A2):c.3745G>A (p.Asp1249Asn)	COL4A2 (D1249N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3360861	NM_001846.4(COL4A2):c.3271+1G>C	COL4A2	Single nucleotide variant (splice donor variant)	not provided	GUncertain significance
Select item 3359667	NM_001846.4(COL4A2):c.3809T>C (p.Ile1270Thr)	COL4A2 (I1270T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3359574	NM_001846.4(COL4A2):c.934G>T (p.Glu312Ter)	COL4A2 (E312*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 3357493	NM_001846.4(COL4A2):c.4G>A (p.Gly2Arg)	COL4A2 (G2R)	Single nucleotide variant (missense variant)	COL4A2-related disorder	GUncertain significance
Select item 3356899	NM_001846.4(COL4A2):c.916T>C (p.Tyr306His)	COL4A2 (Y306H)	Single nucleotide variant (missense variant)	COL4A2-related disorder	GUncertain significance
Select item 3355874	NM_001846.4(COL4A2):c.512C>G (p.Pro171Arg)	COL4A2 (P171R)	Single nucleotide variant (missense variant)	COL4A2-related disorder	GUncertain significance
Select item 3355566	NM_001846.4(COL4A2):c.1406G>A (p.Gly469Glu)	COL4A2, COL4A2-AS2 (G469E)	Single nucleotide variant (missense variant)	COL4A2-related disorder	GUncertain significance
Select item 3354665	NM_001846.4(COL4A2):c.210G>T (p.Gly70=)	COL4A2	Single nucleotide variant (synonymous variant)	COL4A2-related disorder	GLikely benign
Select item 3354364	NM_001846.4(COL4A2):c.3026-6C>G	COL4A2	Single nucleotide variant (intron variant)	COL4A2-related disorder	GLikely benign
Select item 3353865	NM_001846.4(COL4A2):c.3916C>T (p.Leu1306Phe)	COL4A2, COL4A2-AS1 (L1306F)	Single nucleotide variant (missense variant)	COL4A2-related disorder	GUncertain significance
Select item 3353450	NM_001846.4(COL4A2):c.4677C>A (p.Ser1559Arg)	COL4A2, COL4A2-AS1 (S1559R)	Single nucleotide variant (missense variant)	COL4A2-related disorder	GUncertain significance
Select item 3348790	NM_001846.4(COL4A2):c.1740T>A (p.Asp580Glu)	COL4A2, COL4A2-AS2 (D580E)	Single nucleotide variant (missense variant)	COL4A2-related disorder	GUncertain significance
Select item 3348386	NM_001846.4(COL4A2):c.5087G>A (p.Gly1696Asp)	COL4A2 (G1696D)	Single nucleotide variant (missense variant)	COL4A2-related disorder	GUncertain significance
Select item 3347212	NM_001846.4(COL4A2):c.234del (p.Gly79fs)	COL4A2 (G79fs)	Deletion (frameshift variant)	COL4A2-related disorder	GUncertain significance
Select item 3345975	NM_001846.4(COL4A2):c.2425G>A (p.Gly809Arg)	COL4A2 (G809R)	Single nucleotide variant (missense variant)	COL4A2-related disorder	GUncertain significance
Select item 3344124	NM_001846.4(COL4A2):c.2039G>T (p.Gly680Val)	COL4A2 (G680V)	Single nucleotide variant (missense variant)	COL4A2-related disorder	GUncertain significance
Select item 3343733	NM_001846.4(COL4A2):c.3652G>T (p.Asp1218Tyr)	COL4A2 (D1218Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3342882	NM_001846.4(COL4A2):c.3977G>A (p.Gly1326Glu)	COL4A2, COL4A2-AS1 (G1326E)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 3342611	NM_001846.4(COL4A2):c.2758+1G>A	COL4A2	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 3341485	NM_001846.4(COL4A2):c.101G>A (p.Gly34Asp)	COL4A2 (G34D)	Single nucleotide variant (missense variant)	Porencephaly 2	GUncertain significance
Select item 3339986	NC_000013.10:g.(111138184_111141791)_(111156612_111158761)del	COL4A2	Deletion	Porencephaly 2	GPathogenic
Select item 3338921	NM_001846.4(COL4A2):c.3015G>A (p.Leu1005=)	COL4A2	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3268725	NM_001846.4(COL4A2):c.982C>G (p.Gln328Glu)	COL4A2 (Q328E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3268724	NM_001846.4(COL4A2):c.4775T>C (p.Val1592Ala)	COL4A2, COL4A2-AS1 (V1592A)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3268723	NM_001846.4(COL4A2):c.4535G>T (p.Trp1512Leu)	COL4A2, COL4A2-AS1 (W1512L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3268722	NM_001846.4(COL4A2):c.4427C>T (p.Pro1476Leu)	COL4A2, COL4A2-AS1 (P1476L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3257613	NM_001846.4(COL4A2):c.4088C>T (p.Ala1363Val)	COL4A2, COL4A2-AS1 (A1363V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3255204	NM_001846.4(COL4A2):c.2687G>A (p.Gly896Glu)	COL4A2 (G896E)	Single nucleotide variant (missense variant)	Porencephaly 2	GLikely pathogenic
Select item 3255142	NM_001846.4(COL4A2):c.2857G>T (p.Gly953Ter)	COL4A2 (G953*)	Single nucleotide variant (nonsense)	Porencephaly 2	GUncertain significance
Select item 3255139	NM_001846.4(COL4A2):c.2453G>T (p.Gly818Val)	COL4A2 (G818V)	Single nucleotide variant (missense variant)	Porencephaly 2	GLikely pathogenic
Select item 3251668	NM_001846.4(COL4A2):c.946C>G (p.Pro316Ala)	COL4A2 (P316A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3244211	NC_000013.10:g.(?_110802710)_(111009919_?)dup	COL4A1, COL4A2	Duplication	not provided	GUncertain significance
Select item 3244210	NC_000013.10:g.(?_111134843)_(111135026_?)del	COL4A2	Deletion	not provided	GUncertain significance
Select item 3244207	NC_000013.10:g.(?_110959271)_(110960712_?)dup	COL4A1, COL4A2	Duplication	not provided	GUncertain significance
Select item 3242333	GRCh37/hg19 13q32.3-34(chr13:99892724-115108414)x3	ABHD13, ADPRHL1 +66 more	Copy number gain	not provided	GPathogenic
Select item 3234519	NM_001846.4(COL4A2):c.644G>A (p.Arg215Lys)	COL4A2 (R215K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3233714	NM_001846.4(COL4A2):c.4441A>G (p.Met1481Val)	COL4A2, COL4A2-AS1 (M1481V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3147589	NM_001846.4(COL4A2):c.892A>G (p.Met298Val)	COL4A2 (M298V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3147588	NM_001846.4(COL4A2):c.760C>T (p.Pro254Ser)	COL4A2 (P254S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3147587	NM_001846.4(COL4A2):c.67A>G (p.Thr23Ala)	COL4A2 (T23A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3147586	NM_001846.4(COL4A2):c.5060C>T (p.Ser1687Leu)	COL4A2 (S1687L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3147585	NM_001846.4(COL4A2):c.500A>C (p.Gln167Pro)	COL4A2 (Q167P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3147584	NM_001846.4(COL4A2):c.4792A>G (p.Ile1598Val)	COL4A2, COL4A2-AS1 (I1598V)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 3147583	NM_001846.4(COL4A2):c.4724T>C (p.Met1575Thr)	COL4A2, COL4A2-AS1 (M1575T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3147582	NM_001846.4(COL4A2):c.4370C>A (p.Pro1457His)	COL4A2, COL4A2-AS1 (P1457H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3147581	NM_001846.4(COL4A2):c.3595C>T (p.His1199Tyr)	COL4A2 (H1199Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3147580	NM_001846.4(COL4A2):c.3325C>T (p.Arg1109Trp)	COL4A2 (R1109W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3147576	NM_001846.4(COL4A2):c.1343T>G (p.Phe448Cys)	COL4A2, COL4A2-AS2 (F448C)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3068974	NM_001846.4(COL4A2):c.5134C>T (p.Leu1712=)	COL4A2	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3068973	NM_001846.4(COL4A2):c.1670-4C>G	COL4A2, COL4A2-AS2	Single nucleotide variant (intron variant)	not specified	GUncertain significance
Select item 3064677	NM_001846.4(COL4A2):c.2095G>A (p.Gly699Ser)	COL4A2 (G699S)	Single nucleotide variant (missense variant)	Hemorrhage, intracerebral, susceptibility to	GUncertain significance
Select item 3064432	NM_001846.4(COL4A2):c.2912G>A (p.Gly971Glu)	COL4A2 (G971E)	Single nucleotide variant (missense variant)	Hemorrhage, intracerebral, susceptibility to	GUncertain significance
Select item 3063650	NM_001846.4(COL4A2):c.861+3A>G	COL4A2	Single nucleotide variant (intron variant)	not specified	GUncertain significance
Select item 3063309	GRCh37/hg19 13q31.1-34(chr13:84669397-115107733)x1	ABCC4, ABHD13 +97 more	Copy number loss	not specified	GPathogenic
Select item 3063307	GRCh37/hg19 13q33.1-34(chr13:102421732-115107733)x1	ABHD13, ADPRHL1 +54 more	Copy number loss	not specified	GPathogenic
Select item 3063302	GRCh37/hg19 13q33.2-34(chr13:106430837-114763645)x3	ABHD13, ADPRHL1 +39 more	Copy number gain	not specified	GUncertain significance
Select item 3063300	GRCh37/hg19 13q33.1-34(chr13:103149209-115107733)x1	ABHD13, ADPRHL1 +53 more	Copy number loss	not specified	GPathogenic
Select item 3063294	GRCh37/hg19 13q31.1-34(chr13:82876219-115107733)x3	ABCC4, ABHD13 +98 more	Copy number gain	not specified	GPathogenic
Select item 3063291	GRCh37/hg19 13q33.2-34(chr13:105761074-115107733)x1	ABHD13, ADPRHL1 +44 more	Copy number loss	not specified	GPathogenic
Select item 3063290	GRCh37/hg19 13q33.1-34(chr13:104389334-115107733)x1	ABHD13, ADPRHL1 +44 more	Copy number loss	not specified	GPathogenic
Select item 3063287	GRCh37/hg19 13q33.2-34(chr13:106591678-115107733)x1	ABHD13, ADPRHL1 +42 more	Copy number loss	not specified	GPathogenic
Select item 3055770	NM_001846.4(COL4A2):c.4403-24_4419del	COL4A2, COL4A2-AS1	Microsatellite (splice acceptor variant)	COL4A2-related disorder	GLikely benign
Select item 3054831	NM_001846.4(COL4A2):c.3069T>C (p.Pro1023=)	COL4A2	Single nucleotide variant (synonymous variant)	COL4A2-related disorder	GLikely benign
Select item 3047545	NM_001846.4(COL4A2):c.5097C>T (p.Arg1699=)	COL4A2	Single nucleotide variant (synonymous variant)	COL4A2-related disorder	GLikely benign
Select item 3038516	NM_001846.4(COL4A2):c.1071A>C (p.Leu357=)	COL4A2	Single nucleotide variant (synonymous variant)	COL4A2-related disorder	GLikely benign
Select item 3037695	NM_001846.4(COL4A2):c.1979-3del	COL4A2	Deletion (intron variant)	COL4A2-related disorder	GLikely benign
Select item 3036198	NM_001846.4(COL4A2):c.1777-3C>T	COL4A2	Single nucleotide variant (intron variant)	COL4A2-related disorder	GLikely benign
Select item 3032650	NM_001846.4(COL4A2):c.1078+10C>T	COL4A2	Single nucleotide variant (intron variant)	COL4A2-related disorder	GLikely benign
Select item 3032130	NM_001846.4(COL4A2):c.1244C>T (p.Pro415Leu)	COL4A2 (P415L)	Single nucleotide variant (missense variant)	COL4A2-related disorder	GUncertain significance
Select item 3030024	NM_001846.4(COL4A2):c.1979-3C>T	COL4A2	Single nucleotide variant (intron variant)	COL4A2-related disorder	GLikely benign
Select item 3026886	NM_001846.4(COL4A2):c.2308A>T (p.Arg770Trp)	COL4A2 (R770W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3017834	NM_001846.4(COL4A2):c.4713G>A (p.Ala1571=)	COL4A2, COL4A2-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3015626	NM_001846.4(COL4A2):c.900T>A (p.Phe300Leu)	COL4A2 (F300L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3015519	NM_001846.4(COL4A2):c.3587G>A (p.Arg1196His)	COL4A2 (R1196H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3014901	NM_001846.4(COL4A2):c.4646G>A (p.Cys1549Tyr)	COL4A2, COL4A2-AS1 (C1549Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3014501	NM_001846.4(COL4A2):c.207G>A (p.Gln69=)	COL4A2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3013102	NM_001846.4(COL4A2):c.4928C>T (p.Pro1643Leu)	COL4A2 (P1643L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3012940	NM_001846.4(COL4A2):c.2844G>A (p.Glu948=)	COL4A2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3012631	NM_001846.4(COL4A2):c.2587+13C>T	COL4A2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3011148	NM_001846.4(COL4A2):c.1060C>T (p.His354Tyr)	COL4A2 (H354Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3009728	NM_001846.4(COL4A2):c.605G>A (p.Gly202Glu)	COL4A2 (G202E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3009726	NM_001846.4(COL4A2):c.1291C>T (p.Arg431Ter)	COL4A2 (R431*)	Single nucleotide variant (nonsense)	not provided	GConflicting classifications of pathogenicity

<< First< Prev

Page of 10