ClinVar for MedGen (Select 1648433) - ClinVar - NCBI

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

Links from MedGen

Items: 1 to 100 of 817

<< First< Prev

Page of 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3377334	NM_033380.3(COL4A5):c.1883C>T (p.Pro628Leu)	COL4A5 (P628L)	Single nucleotide variant (missense variant)	X-linked Alport syndrome	GUncertain significance
Select item 3376221	NM_033380.3(COL4A5):c.2525C>T (p.Pro842Leu)	COL4A5 (P842L)	Single nucleotide variant (missense variant)	X-linked Alport syndrome	GUncertain significance
Select item 3375378	NM_033380.3(COL4A5):c.3553+1G>T	COL4A5	Single nucleotide variant (splice donor variant)	X-linked Alport syndrome	GLikely pathogenic
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 3362813	NM_033380.3(COL4A5):c.496del (p.Leu166fs)	COL4A5 (L166fs)	Deletion (frameshift variant)	X-linked Alport syndrome	GUncertain significance
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 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 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 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 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 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 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
Select item 3236055	NM_033380.3(COL4A5):c.4425_4428del (p.Thr1476fs)	COL4A5 (T1470fs +1 more)	Deletion (frameshift variant)	X-linked Alport syndrome	GPathogenic
Select item 3236033	NM_033380.3(COL4A5):c.1208G>C (p.Gly403Ala)	COL4A5 (G403A)	Single nucleotide variant (missense variant)	X-linked Alport syndrome	GLikely pathogenic
Select item 3236026	NM_033380.3(COL4A5):c.3356G>A (p.Gly1119Asp)	COL4A5 (G1119D)	Single nucleotide variant (missense variant)	X-linked Alport syndrome	GLikely pathogenic
Select item 3236019	NM_033380.3(COL4A5):c.321+1G>C	COL4A5	Single nucleotide variant (splice donor variant)	X-linked Alport syndrome	GPathogenic
Select item 3235212	NM_033380.3(COL4A5):c.4135G>A (p.Gly1379Arg)	COL4A5 (G1373R +1 more)	Single nucleotide variant (missense variant)	X-linked Alport syndrome	GLikely pathogenic
Select item 3235211	NM_033380.3(COL4A5):c.4706G>C (p.Arg1569Pro)	COL4A5 (R1563P +1 more)	Single nucleotide variant (missense variant)	X-linked Alport syndrome	GLikely pathogenic
Select item 3235208	NM_033380.3(COL4A5):c.1312G>A (p.Gly438Ser)	COL4A5 (G438S)	Single nucleotide variant (missense variant)	X-linked Alport syndrome	GLikely pathogenic
Select item 3234116	NM_033380.3(COL4A5):c.1095dup (p.Leu366fs)	COL4A5 (L366fs)	Duplication (frameshift variant)	X-linked Alport syndrome	GLikely pathogenic
Select item 3234030	NM_033380.3(COL4A5):c.2492G>A (p.Gly831Glu)	COL4A5 (G831E)	Single nucleotide variant (missense variant)	X-linked Alport syndrome	GPathogenic
Select item 3068625	NM_033380.3(COL4A5):c.359G>A (p.Gly120Asp)	COL4A5 (G120D)	Single nucleotide variant (missense variant)	X-linked Alport syndrome	GLikely pathogenic
Select item 3068585	NM_033380.3(COL4A5):c.2678-1G>T	COL4A5	Single nucleotide variant (splice acceptor variant)	X-linked Alport syndrome	GLikely pathogenic
Select item 3068581	NM_033380.3(COL4A5):c.4581C>G (p.Cys1527Trp)	COL4A5 (C1521W +1 more)	Single nucleotide variant (missense variant)	X-linked Alport syndrome	GLikely pathogenic
Select item 3068399	NM_033380.3(COL4A5):c.2446C>T (p.Pro816Ser)	COL4A5 (P816S)	Single nucleotide variant (missense variant)	X-linked Alport syndrome	GUncertain significance
Select item 3068397	NM_033380.3(COL4A5):c.802_817del (p.Pro268fs)	COL4A5 (P268fs)	Deletion (frameshift variant)	X-linked Alport syndrome	GPathogenic
Select item 3066356	NM_033380.3(COL4A5):c.3553+2T>C	COL4A5	Single nucleotide variant (splice donor variant)	X-linked Alport syndrome	GPathogenic
Select item 3066345	NM_033380.3(COL4A5):c.3498del (p.Gly1167fs)	COL4A5 (G1167fs)	Deletion (frameshift variant)	X-linked Alport syndrome	GPathogenic
Select item 3066343	NM_033380.3(COL4A5):c.600del (p.Gly201fs)	COL4A5 (G201fs)	Deletion (frameshift variant)	X-linked Alport syndrome	GPathogenic
Select item 3066320	NM_033380.3(COL4A5):c.4061_4062delinsAT (p.Gly1354Asp)	COL4A5 (G1348D +1 more)	Indel (missense variant)	X-linked Alport syndrome	GLikely pathogenic
Select item 3066289	NM_033380.3(COL4A5):c.4217-14T>G	COL4A5	Single nucleotide variant (intron variant)	X-linked Alport syndrome	GUncertain significance
Select item 3066242	NM_033380.3(COL4A5):c.1033-10G>A	COL4A5	Single nucleotide variant (intron variant)	X-linked Alport syndrome	GLikely pathogenic
Select item 3066217	NM_033380.3(COL4A5):c.3329G>T (p.Gly1110Val)	COL4A5 (G1110V)	Single nucleotide variant (missense variant)	X-linked Alport syndrome	GLikely pathogenic
Select item 3066211	NM_033380.3(COL4A5):c.2723G>C (p.Gly908Ala)	COL4A5 (G908A)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 3066185	NM_033380.3(COL4A5):c.4528+5G>A	COL4A5	Single nucleotide variant (intron variant)	X-linked Alport syndrome	GUncertain significance
Select item 3066178	NM_033380.3(COL4A5):c.2998G>T (p.Gly1000Ter)	COL4A5 (G1000*)	Single nucleotide variant (nonsense)	X-linked Alport syndrome	GPathogenic
Select item 3064726	NM_033380.3(COL4A5):c.3098G>A (p.Gly1033Asp)	COL4A5 (G1033D)	Single nucleotide variant (missense variant)	X-linked Alport syndrome	GPathogenic
Select item 3062339	NM_033380.3(COL4A5):c.1862G>T (p.Gly621Val)	COL4A5 (G621V)	Single nucleotide variant (missense variant)	X-linked Alport syndrome	GUncertain significance
Select item 3061894	NM_033380.3(COL4A5):c.4321C>T (p.Arg1441Cys)	COL4A5 (R1435C +1 more)	Single nucleotide variant (missense variant)	X-linked Alport syndrome	GUncertain significance
Select item 2921075	NM_033380.3(COL4A5):c.4892_4895del (p.Arg1631fs)	COL4A5 (R1625fs +1 more)	Deletion (frameshift variant)	X-linked Alport syndrome	GLikely pathogenic
Select item 2921028	NM_033380.3(COL4A5):c.3553+10_3553+11delinsA	COL4A5	Indel (intron variant)	X-linked Alport syndrome	GLikely benign
Select item 2920876	NM_033380.3(COL4A5):c.2902dup (p.Glu968fs)	COL4A5 (E968fs)	Duplication (frameshift variant)	X-linked Alport syndrome	GPathogenic
Select item 2903396	NM_033380.3(COL4A5):c.3853G>A (p.Gly1285Ser)	COL4A5 (G1279S +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2808353	NM_033380.3(COL4A5):c.4994+1G>A	COL4A5	Single nucleotide variant (splice donor variant)	X-linked Alport syndrome +1 more	GPathogenic
Select item 2783771	NM_033380.3(COL4A5):c.4162G>A (p.Gly1388Ser)	COL4A5 (G1382S +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2718589	NM_033380.3(COL4A5):c.4341del (p.Gly1448fs)	COL4A5 (G1448fs +1 more)	Deletion (frameshift variant)	X-linked Alport syndrome +1 more	GPathogenic
Select item 2692323	NM_033380.3(COL4A5):c.3098G>T (p.Gly1033Val)	COL4A5 (G1033V)	Single nucleotide variant (missense variant)	X-linked Alport syndrome	GLikely pathogenic
Select item 2688829	NM_033380.3(COL4A5):c.2767+3_2767+14del	COL4A5	Deletion (splice donor variant)	X-linked Alport syndrome	GUncertain significance
Select item 2683947	NM_033380.3(COL4A5):c.3073_3081del (p.Leu1025_Gly1027del)	COL4A5	Deletion (inframe_deletion)	X-linked Alport syndrome +1 more	GLikely pathogenic
Select item 2683937	NM_033380.3(COL4A5):c.4592A>G (p.Asn1531Ser)	COL4A5 (N1525S +1 more)	Single nucleotide variant (missense variant)	X-linked Alport syndrome	GUncertain significance
Select item 2683905	NM_033380.3(COL4A5):c.3828_3871del (p.Pro1277fs)	COL4A5 (P1271fs +1 more)	Deletion (frameshift variant)	X-linked Alport syndrome	GLikely pathogenic
Select item 2682387	NM_033380.3(COL4A5):c.827G>T (p.Gly276Val)	COL4A5 (G276V)	Single nucleotide variant (missense variant)	X-linked Alport syndrome	GLikely pathogenic
Select item 2681782	NM_033380.3(COL4A5):c.1303G>C (p.Gly435Arg)	COL4A5 (G435R)	Single nucleotide variant (missense variant)	X-linked Alport syndrome	GUncertain significance
Select item 2681737	NM_033380.3(COL4A5):c.276+3A>C	COL4A5	Single nucleotide variant (intron variant)	X-linked Alport syndrome	GLikely pathogenic
Select item 2681735	NM_033380.3(COL4A5):c.1207G>A (p.Gly403Arg)	COL4A5 (G403R)	Single nucleotide variant (missense variant)	X-linked Alport syndrome	GLikely pathogenic

<< First< Prev

Page of 9