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 1575

<< First< Prev

Page of 16

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 condition	GLikely benign
Select item 3054831	NM_001846.4(COL4A2):c.3069T>C (p.Pro1023=)	COL4A2	Single nucleotide variant (synonymous variant)	COL4A2-related condition	GLikely benign
Select item 3047545	NM_001846.4(COL4A2):c.5097C>T (p.Arg1699=)	COL4A2	Single nucleotide variant (synonymous variant)	COL4A2-related condition	GLikely benign
Select item 3038516	NM_001846.4(COL4A2):c.1071A>C (p.Leu357=)	COL4A2	Single nucleotide variant (synonymous variant)	COL4A2-related condition	GLikely benign
Select item 3037695	NM_001846.4(COL4A2):c.1979-3del	COL4A2	Deletion (intron variant)	COL4A2-related condition	GLikely benign
Select item 3036198	NM_001846.4(COL4A2):c.1777-3C>T	COL4A2	Single nucleotide variant (intron variant)	COL4A2-related condition	GLikely benign
Select item 3032650	NM_001846.4(COL4A2):c.1078+10C>T	COL4A2	Single nucleotide variant (intron variant)	COL4A2-related condition	GLikely benign
Select item 3032130	NM_001846.4(COL4A2):c.1244C>T (p.Pro415Leu)	COL4A2 (P415L)	Single nucleotide variant (missense variant)	COL4A2-related condition	GUncertain significance
Select item 3030024	NM_001846.4(COL4A2):c.1979-3C>T	COL4A2	Single nucleotide variant (intron variant)	COL4A2-related condition	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	GPathogenic
Select item 3009125	NM_001846.4(COL4A2):c.1329T>C (p.Pro443=)	COL4A2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3008194	NM_001846.4(COL4A2):c.2902+3A>T	COL4A2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 3007177	NM_001846.4(COL4A2):c.3767G>A (p.Arg1256Gln)	COL4A2 (R1256Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3006888	NM_001846.4(COL4A2):c.2398G>A (p.Gly800Arg)	COL4A2 (G800R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3006485	NM_001846.4(COL4A2):c.3563-5C>T	COL4A2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3005283	NM_001846.4(COL4A2):c.2903-19G>A	COL4A2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3003623	NM_001846.4(COL4A2):c.3124C>T (p.Pro1042Ser)	COL4A2 (P1042S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3003070	NM_001846.4(COL4A2):c.100-11dup	COL4A2	Duplication (intron variant)	not provided	GBenign
Select item 3000762	NM_001846.4(COL4A2):c.3982G>T (p.Ala1328Ser)	COL4A2, COL4A2-AS1 (A1328S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3000351	NM_001846.4(COL4A2):c.3542C>T (p.Pro1181Leu)	COL4A2 (P1181L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2999256	NM_001846.4(COL4A2):c.1339+2T>C	COL4A2	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 2998968	NM_001846.4(COL4A2):c.1878C>T (p.Pro626=)	COL4A2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2997990	NM_001846.4(COL4A2):c.3271+13C>T	COL4A2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2997688	NM_001846.4(COL4A2):c.3543G>A (p.Pro1181=)	COL4A2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2996193	NM_001846.4(COL4A2):c.2030T>G (p.Ile677Ser)	COL4A2 (I677S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2995374	NM_001846.4(COL4A2):c.1950T>A (p.Pro650=)	COL4A2	Single nucleotide variant (synonymous variant)	COL4A2-related condition +1 more	GLikely benign
Select item 2994609	NM_001846.4(COL4A2):c.4653T>C (p.Pro1551=)	COL4A2, COL4A2-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2994348	NM_001846.4(COL4A2):c.585+4A>C	COL4A2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2993827	NM_001846.4(COL4A2):c.3632C>T (p.Pro1211Leu)	COL4A2 (P1211L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2993451	NM_001846.4(COL4A2):c.861+17G>A	COL4A2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2992920	NM_001846.4(COL4A2):c.3454+12C>T	COL4A2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2991016	NM_001846.4(COL4A2):c.3333C>T (p.Thr1111=)	COL4A2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2990624	NM_001846.4(COL4A2):c.2588-12T>G	COL4A2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2989991	NM_001846.4(COL4A2):c.1300C>T (p.Pro434Ser)	COL4A2 (P434S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2989829	NM_001846.4(COL4A2):c.3958G>C (p.Gly1320Arg)	COL4A2, COL4A2-AS1 (G1320R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2989796	NM_001846.4(COL4A2):c.3747C>A (p.Asp1249Glu)	COL4A2 (D1249E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2989286	NM_001846.4(COL4A2):c.376G>T (p.Gly126Cys)	COL4A2 (G126C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2989194	NM_001846.4(COL4A2):c.165T>G (p.Pro55=)	COL4A2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2988528	NM_001846.4(COL4A2):c.3207+9del	COL4A2	Deletion (intron variant)	COL4A2-related condition +1 more	GLikely benign
Select item 2987359	NM_001846.4(COL4A2):c.1311C>T (p.Pro437=)	COL4A2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2986952	NM_001846.4(COL4A2):c.292G>A (p.Val98Ile)	COL4A2 (V98I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2986939	NM_001846.4(COL4A2):c.4755C>G (p.Pro1585=)	COL4A2, COL4A2-AS1	Single nucleotide variant (synonymous variant)	COL4A2-related condition +1 more	GLikely benign
Select item 2986778	NM_001846.4(COL4A2):c.2587+19C>T	COL4A2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2985443	NM_001846.4(COL4A2):c.661C>A (p.Pro221Thr)	COL4A2 (P221T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2984994	NM_001846.4(COL4A2):c.2759-20T>G	COL4A2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2984942	NM_001846.4(COL4A2):c.2798T>C (p.Met933Thr)	COL4A2 (M933T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2984812	NM_001846.4(COL4A2):c.3025+8T>C	COL4A2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2984709	NM_001846.4(COL4A2):c.60G>T (p.Gly20=)	COL4A2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2984545	NM_001846.4(COL4A2):c.1525G>A (p.Gly509Arg)	COL4A2, COL4A2-AS2 (G509R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2982920	NM_001846.4(COL4A2):c.1453T>C (p.Cys485Arg)	COL4A2, COL4A2-AS2 (C485R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2980268	NM_001846.4(COL4A2):c.1611C>G (p.Asn537Lys)	COL4A2, COL4A2-AS2 (N537K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2979852	NM_001846.4(COL4A2):c.861+8G>T	COL4A2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2978250	NM_001846.4(COL4A2):c.1513G>T (p.Ala505Ser)	COL4A2, COL4A2-AS2 (A505S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2978234	NM_001846.4(COL4A2):c.2341C>T (p.Pro781Ser)	COL4A2 (P781S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2977596	NM_001846.4(COL4A2):c.727-8A>G	COL4A2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2976038	NM_001846.4(COL4A2):c.4512C>T (p.Cys1504=)	COL4A2, COL4A2-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2975817	NM_001846.4(COL4A2):c.2038+19G>A	COL4A2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2975119	NM_001846.4(COL4A2):c.4236C>G (p.Pro1412=)	COL4A2, COL4A2-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2971888	NM_001846.4(COL4A2):c.103G>A (p.Val35Met)	COL4A2 (V35M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2968610	NM_001846.4(COL4A2):c.4138+16G>A	COL4A2, COL4A2-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2968253	NM_001846.4(COL4A2):c.1265G>A (p.Gly422Glu)	COL4A2 (G422E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2967862	NM_001846.4(COL4A2):c.577G>A (p.Gly193Ser)	COL4A2 (G193S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2967754	NM_001846.4(COL4A2):c.4594+18G>A	COL4A2, COL4A2-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2966341	NM_001846.4(COL4A2):c.4149G>T (p.Gly1383=)	COL4A2, COL4A2-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2966299	NM_001846.4(COL4A2):c.1979-4C>G	COL4A2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2965772	NM_001846.4(COL4A2):c.1011+17T>C	COL4A2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2965451	NM_001846.4(COL4A2):c.4455C>T (p.Ser1485=)	COL4A2, COL4A2-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2964197	NM_001846.4(COL4A2):c.1149G>A (p.Pro383=)	COL4A2	Single nucleotide variant (synonymous variant)	COL4A2-related condition +1 more	GLikely benign
Select item 2964107	NM_001846.4(COL4A2):c.4807C>A (p.His1603Asn)	COL4A2, COL4A2-AS1 (H1603N)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2963802	NM_001846.4(COL4A2):c.3762G>A (p.Gly1254=)	COL4A2	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2963165	NM_001846.4(COL4A2):c.369G>A (p.Pro123=)	COL4A2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2962043	NM_001846.4(COL4A2):c.1180G>A (p.Gly394Arg)	COL4A2 (G394R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2959798	NM_001846.4(COL4A2):c.3287C>T (p.Thr1096Ile)	COL4A2 (T1096I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2959167	NM_001846.4(COL4A2):c.958-15A>G	COL4A2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2958720	NM_001846.4(COL4A2):c.912+18T>C	COL4A2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2957240	NM_001846.4(COL4A2):c.825+14T>C	COL4A2	Single nucleotide variant (intron variant)	not provided	GLikely benign

<< First< Prev

Page of 16