ClinVar for Gene (Select 1287) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3370330	NM_033380.3(COL4A5):c.3445G>A (p.Gly1149Ser)	COL4A5 (G1149S)	Single nucleotide variant (missense variant)	X-linked Alport syndrome	GLikely pathogenic
Select item 3370327	NM_033380.3(COL4A5):c.3581_3598dup (p.Gly1199_Leu1200insProProGlyLeuProGly)	COL4A5	Duplication (inframe_insertion)	X-linked Alport syndrome	GUncertain significance
Select item 3369702	NM_033380.3(COL4A5):c.4087+5G>C	COL4A5	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 3369277	NM_033380.3(COL4A5):c.3337G>A (p.Gly1113Arg)	COL4A5 (G1113R)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 3368637	NM_033380.3(COL4A5):c.2419C>A (p.Pro807Thr)	COL4A5 (P807T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3368258	NM_033380.3(COL4A5):c.2281C>T (p.Pro761Ser)	COL4A5 (P761S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3367860	NM_033380.3(COL4A5):c.2852C>G (p.Pro951Arg)	COL4A5 (P951R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3367705	NM_033380.3(COL4A5):c.2620A>G (p.Ile874Val)	COL4A5 (I874V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3367289	NM_033380.3(COL4A5):c.1807G>C (p.Gly603Arg)	COL4A5 (G603R)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 3366901	NC_000023.10:g.(?_54610638)_(154689386_?)dup	ABCB7, ABCD1 +526 more	Duplication	Hereditary factor VIII deficiency disease	GUncertain significance
Select item 3366724	NM_033380.3(COL4A5):c.2113G>A (p.Gly705Arg)	COL4A5 (G705R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3366491	NM_033380.3(COL4A5):c.2891G>C (p.Gly964Ala)	COL4A5 (G964A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3366327	NM_033380.3(COL4A5):c.3460G>A (p.Gly1154Arg)	COL4A5 (G1154R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3364625	NM_033380.3(COL4A5):c.2584A>G (p.Arg862Gly)	COL4A5 (R862G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3362813	NM_033380.3(COL4A5):c.496del (p.Leu166fs)	COL4A5 (L166fs)	Deletion (frameshift variant)	X-linked Alport syndrome	GUncertain significance
Select item 3359602	NM_033380.3(COL4A5):c.2552C>T (p.Pro851Leu)	COL4A5 (P851L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3357915	NM_033380.3(COL4A5):c.2147-3C>T	COL4A5	Single nucleotide variant (intron variant)	COL4A5-related disorder	GLikely benign
Select item 3356563	NM_033380.3(COL4A5):c.2578G>C (p.Gly860Arg)	COL4A5 (G860R)	Single nucleotide variant (missense variant)	COL4A5-related disorder	GPathogenic
Select item 3349521	NM_033380.3(COL4A5):c.556G>C (p.Gly186Arg)	COL4A5 (G186R)	Single nucleotide variant (missense variant)	COL4A5-related disorder	GLikely pathogenic
Select item 3347859	NM_033380.3(COL4A5):c.3026G>A (p.Gly1009Asp)	COL4A5 (G1009D)	Single nucleotide variant (missense variant)	COL4A5-related disorder	GLikely pathogenic
Select item 3346374	NM_033380.3(COL4A5):c.1345G>T (p.Glu449Ter)	COL4A5 (E449*)	Single nucleotide variant (nonsense)	COL4A5-related disorder	GPathogenic
Select item 3346340	NM_033380.3(COL4A5):c.5057T>G (p.Val1686Gly)	COL4A5 (V1680G +1 more)	Single nucleotide variant (missense variant)	COL4A5-related disorder	GUncertain significance
Select item 3346167	NM_033380.3(COL4A5):c.1913G>C (p.Gly638Ala)	COL4A5 (G638A)	Single nucleotide variant (missense variant)	COL4A5-related disorder	GPathogenic
Select item 3342298	NM_033380.3(COL4A5):c.3703G>A (p.Gly1235Ser)	COL4A5 (G1235S)	Single nucleotide variant (missense variant)	X-linked Alport syndrome	GLikely pathogenic
Select item 3342277	NM_033380.3(COL4A5):c.446C>T (p.Pro149Leu)	COL4A5 (P149L)	Single nucleotide variant (missense variant)	X-linked Alport syndrome	GUncertain significance
Select item 3341967	NM_033380.3(COL4A5):c.384G>A (p.Lys128=)	COL4A5	Single nucleotide variant (synonymous variant)	not provided	GLikely pathogenic
Select item 3341476	NM_033380.3(COL4A5):c.680G>A (p.Gly227Asp)	COL4A5 (G227D)	Single nucleotide variant (missense variant)	X-linked Alport syndrome	GUncertain significance
Select item 3340120	NM_033380.3(COL4A5):c.1894G>A (p.Gly632Ser)	COL4A5 (G632S)	Single nucleotide variant (missense variant)	X-linked Alport syndrome	GLikely pathogenic
Select item 3340015	NM_033380.3(COL4A5):c.3374-13C>G	COL4A5	Single nucleotide variant (intron variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 3339286	NM_033380.3(COL4A5):c.4379G>A (p.Gly1460Glu)	COL4A5 (G1454E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3338968	NM_033380.3(COL4A5):c.2360G>C (p.Gly787Ala)	COL4A5 (G787A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3338416	NM_033380.3(COL4A5):c.4453G>A (p.Gly1485Arg)	COL4A5 (G1479R +1 more)	Single nucleotide variant (missense variant)	X-linked Alport syndrome	GUncertain significance
Select item 3338392	NM_033380.3(COL4A5):c.3584del (p.Pro1195fs)	COL4A5 (P1195fs)	Deletion (frameshift variant)	X-linked Alport syndrome	GPathogenic
Select item 3337950	NM_033380.3(COL4A5):c.1157G>C (p.Gly386Ala)	COL4A5 (G386A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3337949	NM_033380.3(COL4A5):c.595C>A (p.Pro199Thr)	COL4A5 (P199T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3336415	NM_033380.3(COL4A5):c.1525G>A (p.Gly509Ser)	COL4A5 (G509S)	Single nucleotide variant (missense variant)	X-linked Alport syndrome	GLikely pathogenic
Select item 3336012	NM_033380.3(COL4A5):c.3009A>G (p.Gly1003=)	COL4A5	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3335954	NM_033380.3(COL4A5):c.3562G>A (p.Gly1188Ser)	COL4A5 (G1188S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3268737	NM_033380.3(COL4A5):c.3771A>T (p.Gln1257His)	COL4A5 (Q1257H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3268736	NM_033380.3(COL4A5):c.3201T>A (p.Asp1067Glu)	COL4A5 (D1067E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3256885	NM_033380.3(COL4A5):c.809G>T (p.Gly270Val)	COL4A5 (G270V)	Single nucleotide variant (missense variant)	X-linked Alport syndrome	GLikely pathogenic
Select item 3256876	NM_033380.3(COL4A5):c.4769C>G (p.Pro1590Arg)	COL4A5 (P1584R +1 more)	Single nucleotide variant (missense variant)	X-linked Alport syndrome	GLikely pathogenic
Select item 3256696	NM_033380.3(COL4A5):c.1814dup (p.Gly606fs)	COL4A5 (G606fs)	Duplication (frameshift variant)	X-linked Alport syndrome	GPathogenic
Select item 3256670	NM_033380.3(COL4A5):c.609+833C>A	COL4A5	Single nucleotide variant (intron variant)	X-linked Alport syndrome	GUncertain significance
Select item 3256659	NM_033380.3(COL4A5):c.1537C>T (p.Gln513Ter)	COL4A5 (Q513*)	Single nucleotide variant (nonsense)	X-linked Alport syndrome	GPathogenic
Select item 3255212	NM_033380.3(COL4A5):c.4154G>T (p.Gly1385Val)	COL4A5 (G1379V +1 more)	Single nucleotide variant (missense variant)	X-linked Alport syndrome	GLikely pathogenic
Select item 3255209	NM_033380.3(COL4A5):c.3247-1G>C	COL4A5	Single nucleotide variant (splice acceptor variant)	X-linked Alport syndrome	GPathogenic
Select item 3255208	NM_033380.3(COL4A5):c.2173G>T (p.Gly725Ter)	COL4A5 (G725*)	Single nucleotide variant (nonsense)	X-linked Alport syndrome	GPathogenic
Select item 3255206	NM_033380.3(COL4A5):c.999del (p.Gly334fs)	COL4A5 (G334fs)	Deletion (frameshift variant)	X-linked Alport syndrome +1 more	GPathogenic/Likely pathogenic
Select item 3255205	NM_033380.3(COL4A5):c.2042-18A>G	COL4A5	Single nucleotide variant (intron variant)	X-linked Alport syndrome	GPathogenic
Select item 3255182	NM_033380.3(COL4A5):c.958_960dup (p.Tyr320_Pro321insTyr)	COL4A5	Duplication (inframe_insertion)	X-linked Alport syndrome	GLikely pathogenic
Select item 3255174	NM_033380.3(COL4A5):c.4024G>T (p.Gly1342Ter)	COL4A5 (G1336* +1 more)	Single nucleotide variant (nonsense)	X-linked Alport syndrome	GPathogenic
Select item 3255169	NM_033380.3(COL4A5):c.2835_2836del (p.Glu945fs)	COL4A5 (E945fs)	Deletion (frameshift variant)	X-linked Alport syndrome	GPathogenic
Select item 3255166	NM_033380.3(COL4A5):c.1028G>A (p.Gly343Glu)	COL4A5 (G343E)	Single nucleotide variant (missense variant)	X-linked Alport syndrome	GLikely pathogenic
Select item 3255135	NM_033380.3(COL4A5):c.212dup (p.Pro73fs)	COL4A5 (P73fs)	Duplication (frameshift variant)	X-linked Alport syndrome	GPathogenic
Select item 3254905	NM_033380.3(COL4A5):c.4334G>A (p.Gly1445Asp)	COL4A5 (G1439D +1 more)	Single nucleotide variant (missense variant)	X-linked Alport syndrome	GLikely pathogenic
Select item 3254657	NM_033380.3(COL4A5):c.358G>A (p.Gly120Ser)	COL4A5 (G120S)	Single nucleotide variant (missense variant)	X-linked Alport syndrome	GPathogenic
Select item 3254648	NM_033380.3(COL4A5):c.142G>A (p.Gly48Arg)	COL4A5 (G48R)	Single nucleotide variant (missense variant)	X-linked Alport syndrome	GLikely pathogenic
Select item 3254631	NM_033380.3(COL4A5):c.4772del (p.His1591fs)	COL4A5 (H1585fs +1 more)	Deletion (frameshift variant)	X-linked Alport syndrome	GPathogenic
Select item 3254628	NM_033380.3(COL4A5):c.1213dup (p.Arg405fs)	COL4A5 (R405fs)	Duplication (frameshift variant)	X-linked Alport syndrome	GPathogenic
Select item 3254615	NM_033380.3(COL4A5):c.3689dup (p.Gly1232fs)	COL4A5 (G1232fs)	Duplication (frameshift variant)	X-linked Alport syndrome	GPathogenic
Select item 3254565	NM_033380.3(COL4A5):c.4016-2del	COL4A5	Deletion (splice acceptor variant)	X-linked Alport syndrome	GPathogenic
Select item 3252216	NM_033380.3(COL4A5):c.1504C>G (p.Pro502Ala)	COL4A5 (P502A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3252034	NM_033380.3(COL4A5):c.422G>A (p.Gly141Asp)	COL4A5 (G141D)	Single nucleotide variant (missense variant)	X-linked Alport syndrome	GLikely pathogenic
Select item 3251895	NM_033380.3(COL4A5):c.2848G>C (p.Gly950Arg)	COL4A5 (G950R)	Single nucleotide variant (missense variant)	X-linked Alport syndrome	GLikely pathogenic
Select item 3251428	NM_033380.3(COL4A5):c.4572C>A (p.Phe1524Leu)	COL4A5 (F1518L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3251374	NM_033380.3(COL4A5):c.10C>A (p.Arg4Ser)	COL4A5 (R4S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3246485	NC_000023.10:g.(?_107553958)_(107979574_?)del	COL4A5, COL4A6 +1 more	Deletion	not provided	GUncertain significance
Select item 3246332	NC_000023.10:g.(?_107863644)_(107865578_?)del	COL4A5	Deletion	not provided	GPathogenic
Select item 3246321	NC_000023.10:g.(?_107850079)_(107850142_?)del	COL4A5	Deletion	not provided	GPathogenic
Select item 3246310	NC_000023.10:g.(?_107802274)_(107869599_?)dup	COL4A5	Duplication	not provided	GUncertain significance
Select item 3246299	NC_000023.10:g.(?_107819120)_(107840818_?)dup	COL4A5	Duplication	not provided	GUncertain significance
Select item 3246288	NC_000023.10:g.(?_107793756)_(107802284_?)del	COL4A5	Deletion	not provided	GUncertain significance
Select item 3246277	NC_000023.10:g.(?_107834268)_(107840818_?)del	COL4A5	Deletion	not provided	GPathogenic
Select item 3246266	NC_000023.10:g.(?_107782956)_(107840818_?)del	COL4A5	Deletion	not provided	GPathogenic
Select item 3246255	NC_000023.10:g.(?_107829825)_(107834894_?)del	COL4A5	Deletion	not provided	GPathogenic
Select item 3246244	NC_000023.10:g.(?_107898541)_(107898707_?)del	COL4A5	Deletion	not provided	GPathogenic
Select item 3246233	NC_000023.10:g.(?_107829825)_(107829997_?)del	COL4A5	Deletion	not provided	GPathogenic
Select item 3246221	NC_000023.10:g.(?_107683356)_(107939608_?)del	COL4A5	Deletion	not provided	GPathogenic
Select item 3242589	GRCh38/hg38 Xp22.33-q28(chrX:2757837-156030895)x2	LOC130068417, LOC130068418 +2599 more	Copy number gain	Klinefelter syndrome	GPathogenic
Select item 3242083	NM_033380.3(COL4A5):c.382A>T (p.Lys128Ter)	COL4A5 (K128*)	Single nucleotide variant (nonsense)	X-linked Alport syndrome	GLikely pathogenic
Select item 3242026	NM_033380.3(COL4A5):c.554C>T (p.Pro185Leu)	COL4A5 (P185L)	Single nucleotide variant (missense variant)	X-linked Alport syndrome	GUncertain significance
Select item 3237405	NM_033380.3(COL4A5):c.2074C>A (p.Pro692Thr)	COL4A5 (P692T)	Single nucleotide variant (missense variant)	X-linked Alport syndrome	GUncertain significance
Select item 3236784	NM_033380.3(COL4A5):c.4997A>C (p.Lys1666Thr)	COL4A5 (K1660T +1 more)	Single nucleotide variant (missense variant)	X-linked Alport syndrome	GUncertain significance
Select item 3236434	NM_033380.3(COL4A5):c.1640del (p.Pro547fs)	COL4A5 (P547fs)	Deletion (frameshift variant)	X-linked Alport syndrome	GLikely pathogenic
Select item 3236356	NM_033380.3(COL4A5):c.4912T>C (p.Cys1638Arg)	COL4A5 (C1632R +1 more)	Single nucleotide variant (missense variant)	X-linked Alport syndrome	GPathogenic/Likely pathogenic
Select item 3236354	NM_033380.3(COL4A5):c.892G>T (p.Gly298Cys)	COL4A5 (G298C)	Single nucleotide variant (missense variant)	X-linked Alport syndrome	GLikely pathogenic
Select item 3236264	NM_033380.3(COL4A5):c.6dup (p.Leu3fs)	COL4A5 (L3fs)	Duplication (frameshift variant)	X-linked Alport syndrome	GPathogenic
Select item 3236235	NM_033380.3(COL4A5):c.3043G>A (p.Gly1015Arg)	COL4A5 (G1015R)	Single nucleotide variant (missense variant)	X-linked Alport syndrome	GPathogenic
Select item 3236230	NM_033380.3(COL4A5):c.3329G>A (p.Gly1110Glu)	COL4A5 (G1110E)	Single nucleotide variant (missense variant)	X-linked Alport syndrome	GLikely pathogenic
Select item 3236229	NM_033380.3(COL4A5):c.2576C>T (p.Pro859Leu)	COL4A5 (P859L)	Single nucleotide variant (missense variant)	X-linked Alport syndrome	GUncertain significance
Select item 3236228	NM_033380.3(COL4A5):c.2146+1G>C	COL4A5	Single nucleotide variant (splice donor variant)	X-linked Alport syndrome	GPathogenic
Select item 3236227	NM_033380.3(COL4A5):c.3595G>A (p.Gly1199Arg)	COL4A5 (G1199R)	Single nucleotide variant (missense variant)	X-linked Alport syndrome	GPathogenic
Select item 3236223	NM_033380.3(COL4A5):c.449_450delinsAT (p.Gly150Asp)	COL4A5 (G150D)	Indel (missense variant)	X-linked Alport syndrome	GLikely pathogenic
Select item 3236219	NM_033380.3(COL4A5):c.2165G>T (p.Gly722Val)	COL4A5 (G722V)	Single nucleotide variant (missense variant)	X-linked Alport syndrome	GLikely pathogenic
Select item 3236218	NM_033380.3(COL4A5):c.2360G>A (p.Gly787Glu)	COL4A5 (G787E)	Single nucleotide variant (missense variant)	X-linked Alport syndrome	GLikely pathogenic
Select item 3236211	NM_033380.3(COL4A5):c.2041+1G>A	COL4A5	Single nucleotide variant (splice donor variant)	X-linked Alport syndrome	GPathogenic
Select item 3236114	NM_033380.3(COL4A5):c.3453dup (p.Gly1152fs)	COL4A5 (G1152fs)	Duplication (frameshift variant)	X-linked Alport syndrome	GPathogenic
Select item 3236110	NM_033380.3(COL4A5):c.609+841A>G	COL4A5	Single nucleotide variant (intron variant)	X-linked Alport syndrome	GUncertain significance
Select item 3236056	NM_033380.3(COL4A5):c.949del (p.Asp317fs)	COL4A5 (D317fs)	Deletion (frameshift variant)	X-linked Alport syndrome	GPathogenic

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