"COL4A5-related disorder"[Disease/phenotype] AND "PreventionGenetics, - ClinVar

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Items: 82

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 451163	NM_033380.3(COL4A5):c.-25_-8dup	COL4A5	Duplication (5 prime UTR variant)	COL4A5-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 1086073	NM_033380.3(COL4A5):c.57T>C (p.Leu19=)	COL4A5	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 499283	NM_033380.3(COL4A5):c.89A>G (p.Tyr30Cys)	COL4A5 (Y30C)	Single nucleotide variant (missense variant)	X-linked Alport syndrome +2 more	GConflicting classifications of pathogenicity
Select item 2633781	NM_000495.4(COL4A5):c.142_143dupGG	COL4A5	Duplication	COL4A5-related disorder	GLikely pathogenic
Select item 587092	NM_033380.3(COL4A5):c.262C>T (p.Pro88Ser)	COL4A5 (P88S)	Single nucleotide variant (missense variant)	COL4A5-related disorder +1 more	GBenign/Likely benign
Select item 1482121	NM_033380.3(COL4A5):c.321+1G>A	COL4A5	Single nucleotide variant (splice donor variant)	not provided +1 more	GLikely pathogenic
Select item 2635552	NM_033380.3(COL4A5):c.322-12C>A	COL4A5	Single nucleotide variant (intron variant)	COL4A5-related disorder	GUncertain significance
Select item 841674	NM_033380.3(COL4A5):c.385-2A>G	COL4A5	Single nucleotide variant (splice acceptor variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 266003	NM_033380.3(COL4A5):c.488T>C (p.Met163Thr)	COL4A5 (M163T)	Single nucleotide variant (missense variant)	COL4A5-related disorder +3 more	GBenign/Likely benign
Select item 772107	NM_033380.3(COL4A5):c.580A>G (p.Ile194Val)	COL4A5 (I194V)	Single nucleotide variant (missense variant)	COL4A5-related disorder +1 more	GBenign
Select item 846533	NM_033380.3(COL4A5):c.646-6C>G	COL4A5	Single nucleotide variant (intron variant)	not provided +1 more	GUncertain significance
Select item 2629848	NM_033380.3(COL4A5):c.706G>A (p.Gly236Ser)	COL4A5 (G236S)	Single nucleotide variant (missense variant)	COL4A5-related disorder	GLikely pathogenic
Select item 1066754	NM_033380.3(COL4A5):c.818G>A (p.Gly273Glu)	COL4A5 (G273E)	Single nucleotide variant (missense variant)	X-linked Alport syndrome +2 more	GLikely pathogenic
Select item 1698603	NM_033380.3(COL4A5):c.830C>T (p.Pro277Leu)	COL4A5 (P277L)	Single nucleotide variant (missense variant)	X-linked Alport syndrome +2 more	GUncertain significance
Select item 1167611	NM_033380.3(COL4A5):c.861G>A (p.Glu287=)	COL4A5	Single nucleotide variant (synonymous variant)	COL4A5-related disorder +1 more	GBenign/Likely benign
Select item 759403	NM_033380.3(COL4A5):c.1086GTTGCCTGG[1] (p.363LPG[1])	COL4A5	Microsatellite (inframe_deletion)	not provided +1 more	GBenign/Likely benign
Select item 24367	NM_033380.3(COL4A5):c.1117C>T (p.Arg373Ter)	COL4A5 (R373*)	Single nucleotide variant (nonsense)	COL4A5-related disorder +2 more	GPathogenic
Select item 2630942	NM_000495.4(COL4A5):c.1168delG	COL4A5	Deletion	COL4A5-related disorder	GLikely pathogenic
Select item 720621	NM_033380.3(COL4A5):c.1187C>T (p.Pro396Leu)	COL4A5 (P396L)	Single nucleotide variant (missense variant)	COL4A5-related disorder +2 more	GBenign/Likely benign
Select item 24386	NM_033380.3(COL4A5):c.1226G>A (p.Gly409Asp)	COL4A5 (G409D)	Single nucleotide variant (missense variant)	COL4A5-related disorder +2 more	GPathogenic
Select item 24393	NM_033380.3(COL4A5):c.1276G>A (p.Gly426Arg)	COL4A5 (G426R)	Single nucleotide variant (missense variant)	COL4A5-related disorder +3 more	GPathogenic/Likely pathogenic
Select item 779560	NM_033380.3(COL4A5):c.1350A>G (p.Ile450Met)	COL4A5 (I450M)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 2632609	NM_033380.3(COL4A5):c.1582_1583delinsA (p.Leu528fs)	COL4A5 (L528fs)	Indel (frameshift variant)	COL4A5-related disorder	GLikely pathogenic
Select item 2636191	NM_033380.3(COL4A5):c.1717G>A (p.Gly573Ser)	COL4A5 (G573S)	Single nucleotide variant (missense variant)	COL4A5-related disorder	GLikely pathogenic
Select item 3030797	NM_033380.3(COL4A5):c.1724C>A (p.Pro575His)	COL4A5 (P575H)	Single nucleotide variant (missense variant)	COL4A5-related disorder	GUncertain significance
Select item 222057	NM_033380.3(COL4A5):c.1780-1G>T	COL4A5	Single nucleotide variant (splice acceptor variant)	X-linked Alport syndrome +2 more	GPathogenic
Select item 24455	NM_033380.3(COL4A5):c.1871G>A (p.Gly624Asp)	COL4A5 (G624D)	Single nucleotide variant (missense variant)	COL4A5-related disorder +5 more	GPathogenic/Likely pathogenic
Select item 715195	NM_033380.3(COL4A5):c.2017A>G (p.Arg673Gly)	COL4A5 (R673G)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 799344	NM_033380.3(COL4A5):c.2100A>G (p.Glu700=)	COL4A5	Single nucleotide variant (synonymous variant)	COL4A5-related disorder +1 more	GLikely benign
Select item 587102	NM_033380.3(COL4A5):c.2215C>G (p.Pro739Ala)	COL4A5 (P739A)	Single nucleotide variant (missense variant)	X-linked Alport syndrome +3 more	GConflicting classifications of pathogenicity
Select item 767595	NM_033380.3(COL4A5):c.2216C>A (p.Pro739His)	COL4A5 (P739H)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1170678	NM_033380.3(COL4A5):c.2244+9C>T	COL4A5	Single nucleotide variant (intron variant)	not provided +2 more	GBenign/Likely benign
Select item 2521060	NM_033380.3(COL4A5):c.2317C>T (p.Pro773Ser)	COL4A5 (P773S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2631459	NM_033380.3(COL4A5):c.2339C>T (p.Pro780Leu)	COL4A5 (P780L)	Single nucleotide variant (missense variant)	COL4A5-related disorder	GUncertain significance
Select item 1126239	NM_033380.3(COL4A5):c.2348C>T (p.Pro783Leu)	COL4A5 (P783L)	Single nucleotide variant (missense variant)	COL4A5-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 24554	NM_033380.3(COL4A5):c.2692A>G (p.Met898Val)	COL4A5 (M898V)	Single nucleotide variant (missense variant)	COL4A5-related disorder +2 more	GBenign/Likely benign
Select item 1705496	NM_033380.3(COL4A5):c.2732G>A (p.Gly911Glu)	COL4A5 (G911E)	Single nucleotide variant (missense variant)	X-linked Alport syndrome +1 more	GPathogenic/Likely pathogenic
Select item 2631745	NM_033380.3(COL4A5):c.2740_2745delinsC (p.Gly914fs)	COL4A5 (G914fs)	Indel (frameshift variant)	COL4A5-related disorder	GPathogenic
Select item 2029715	NM_033380.3(COL4A5):c.2767+4A>G	COL4A5	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2632442	NM_033380.3(COL4A5):c.2773G>T (p.Asp925Tyr)	COL4A5 (D925Y)	Single nucleotide variant (missense variant)	COL4A5-related disorder	GUncertain significance
Select item 24573	NM_033380.3(COL4A5):c.2858G>T (p.Gly953Val)	COL4A5 (G953V)	Single nucleotide variant (missense variant)	COL4A5-related disorder +4 more	GConflicting classifications of pathogenicity
Select item 983898	NM_033380.3(COL4A5):c.2926G>T (p.Gly976Ter)	COL4A5 (G976*)	Single nucleotide variant (nonsense)	COL4A5-related disorder +1 more	GLikely pathogenic
Select item 2629847	NM_033380.3(COL4A5):c.2954del (p.Gly985fs)	COL4A5 (G985fs)	Deletion (frameshift variant)	COL4A5-related disorder	GLikely pathogenic
Select item 2635212	NM_033380.3(COL4A5):c.3107-1G>A	COL4A5	Single nucleotide variant (splice acceptor variant)	COL4A5-related disorder	GLikely pathogenic
Select item 2636792	NM_033380.3(COL4A5):c.3115G>T (p.Gly1039Cys)	COL4A5 (G1039C)	Single nucleotide variant (missense variant)	COL4A5-related disorder	GLikely pathogenic
Select item 446016	NM_033380.3(COL4A5):c.3148C>T (p.Pro1050Ser)	COL4A5 (P1050S)	Single nucleotide variant (missense variant)	COL4A5-related disorder +3 more	GBenign/Likely benign
Select item 2634407	NM_033380.3(COL4A5):c.3170G>A (p.Gly1057Glu)	COL4A5 (G1057E)	Single nucleotide variant (missense variant)	COL4A5-related disorder +1 more	GLikely pathogenic
Select item 707214	NM_033380.3(COL4A5):c.3247-10G>A	COL4A5	Single nucleotide variant (intron variant)	X-linked Alport syndrome +2 more	GBenign/Likely benign
Select item 767017	NM_033380.3(COL4A5):c.3251A>C (p.Glu1084Ala)	COL4A5 (E1084A)	Single nucleotide variant (missense variant)	COL4A5-related disorder +3 more	GConflicting classifications of pathogenicity
Select item 2633477	NM_033380.3(COL4A5):c.3295_3299del (p.Ser1099fs)	COL4A5 (S1099fs)	Deletion (frameshift variant)	COL4A5-related disorder	GPathogenic
Select item 24621	NM_033380.3(COL4A5):c.3347G>T (p.Gly1116Val)	COL4A5 (G1116V)	Single nucleotide variant (missense variant)	COL4A5-related disorder +1 more	GLikely pathogenic
Select item 447205	NM_033380.3(COL4A5):c.3427G>T (p.Gly1143Cys)	COL4A5 (G1143C)	Single nucleotide variant (missense variant)	COL4A5-related disorder +1 more	GLikely pathogenic
Select item 24630	NM_033380.3(COL4A5):c.3427G>A (p.Gly1143Ser)	COL4A5 (G1143S)	Single nucleotide variant (missense variant)	COL4A5-related disorder +2 more	GPathogenic/Likely pathogenic
Select item 24638	NM_033380.3(COL4A5):c.3508G>A (p.Gly1170Ser)	COL4A5 (G1170S)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 3059930	NM_033380.3(COL4A5):c.3553+5T>C	COL4A5	Single nucleotide variant (intron variant)	COL4A5-related disorder	GLikely benign
Select item 2633926	NM_033380.3(COL4A5):c.3554-3C>G	COL4A5	Single nucleotide variant (intron variant)	COL4A5-related disorder	GLikely pathogenic
Select item 562403	NM_033380.3(COL4A5):c.3685G>A (p.Gly1229Ser)	COL4A5 (G1229S)	Single nucleotide variant (missense variant)	X-linked Alport syndrome +2 more	GPathogenic
Select item 2630801	NM_033380.3(COL4A5):c.3751A>G (p.Lys1251Glu)	COL4A5 (K1251E)	Single nucleotide variant (missense variant)	COL4A5-related disorder	GUncertain significance
Select item 772028	NM_033380.3(COL4A5):c.3771A>G (p.Gln1257=)	COL4A5	Single nucleotide variant (synonymous variant)	COL4A5-related disorder +1 more	GBenign/Likely benign
Select item 1206073	NM_033380.3(COL4A5):c.3808+7C>T	COL4A5	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 3031549	NM_033380.3(COL4A5):c.3826_3827delinsAT (p.Gly1276Ile)	COL4A5 (G1270I +1 more)	Indel (missense variant)	COL4A5-related disorder	GLikely pathogenic
Select item 1164320	NM_033380.3(COL4A5):c.3943-17T>G	COL4A5	Single nucleotide variant (intron variant)	COL4A5-related disorder +1 more	GBenign/Likely benign
Select item 767422	NM_033380.3(COL4A5):c.3960G>A (p.Pro1320=)	COL4A5	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 1029878	NM_033380.3(COL4A5):c.3964C>G (p.Leu1322Val)	COL4A5 (L1316V +1 more)	Single nucleotide variant (missense variant)	X-linked Alport syndrome +2 more	GUncertain significance
Select item 772029	NM_033380.3(COL4A5):c.4015+5T>C	COL4A5	Single nucleotide variant (intron variant)	X-linked Alport syndrome +2 more	GBenign/Likely benign
Select item 3039415	NM_033380.3(COL4A5):c.4198G>T (p.Gly1400Ter)	COL4A5 (G1394* +1 more)	Single nucleotide variant (nonsense)	COL4A5-related disorder	GLikely pathogenic
Select item 731394	NM_033380.3(COL4A5):c.4209C>T (p.Gly1403=)	COL4A5	Single nucleotide variant (synonymous variant)	COL4A5-related disorder +1 more	GBenign/Likely benign
Select item 1168630	NM_033380.3(COL4A5):c.4216+10C>T	COL4A5	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 766769	NM_033380.3(COL4A5):c.4223C>G (p.Thr1408Ser)	COL4A5 (T1402S +1 more)	Single nucleotide variant (missense variant)	COL4A5-related disorder +1 more	GBenign/Likely benign
Select item 242725	NM_033380.3(COL4A5):c.4282C>T (p.Arg1428Cys)	COL4A5 (R1422C +1 more)	Single nucleotide variant (missense variant)	COL4A5-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 774123	NM_033380.3(COL4A5):c.4309C>G (p.Gln1437Glu)	COL4A5 (Q1437E +1 more)	Single nucleotide variant (missense variant)	X-linked Alport syndrome +4 more	GBenign/Likely benign
Select item 2633972	NM_033380.3(COL4A5):c.4342G>T (p.Gly1448Cys)	COL4A5 (G1442C +1 more)	Single nucleotide variant (missense variant)	COL4A5-related disorder	GLikely pathogenic
Select item 3039764	NM_033380.3(COL4A5):c.4529-355C>T	COL4A5	Single nucleotide variant (intron variant)	COL4A5-related disorder	GLikely benign
Select item 707595	NM_033380.3(COL4A5):c.4643C>T (p.Pro1548Leu)	COL4A5 (P1542L +1 more)	Single nucleotide variant (missense variant)	COL4A5-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 2633714	NM_033380.3(COL4A5):c.4847C>G (p.Ser1616Ter)	COL4A5 (S1610* +1 more)	Single nucleotide variant (nonsense)	COL4A5-related disorder	GLikely pathogenic
Select item 2691536	NM_033380.3(COL4A5):c.4892G>A (p.Arg1631His)	COL4A5 (R1625H +1 more)	Single nucleotide variant (missense variant)	COL4A5-related disorder +1 more	GUncertain significance
Select item 2630052	NM_033380.3(COL4A5):c.4922G>A (p.Arg1641Lys)	COL4A5 (R1635K +1 more)	Single nucleotide variant (missense variant)	COL4A5-related disorder	GUncertain significance
Select item 10466	NM_033380.3(COL4A5):c.4964T>G (p.Leu1655Arg)	COL4A5 (L1649R +1 more)	Single nucleotide variant (missense variant)	X-linked Alport syndrome +3 more	GPathogenic
Select item 733788	NM_033380.3(COL4A5):c.5012C>T (p.Thr1671Met)	COL4A5 (T1671M +1 more)	Single nucleotide variant (missense variant)	COL4A5-related disorder +1 more	GBenign/Likely benign
Select item 1096339	NM_033380.3(COL4A5):c.5016G>A (p.Leu1672=)	COL4A5	Single nucleotide variant (synonymous variant)	COL4A5-related disorder +1 more	GLikely benign
Select item 3050542	NM_033380.3(COL4A5):c.5043T>G (p.Ile1681Met)	COL4A5 (I1675M +1 more)	Single nucleotide variant (missense variant)	COL4A5-related disorder	GUncertain significance
Select item 10467	NM_033380.3(COL4A5):c.5048G>A (p.Arg1683Gln)	COL4A5 (R1677Q +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic

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Items: 82