C0022350[trait identifier] AND "Illumina Laboratory Services, Illumina - ClinVar - NCBI

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

Search results

Items: 1 to 100 of 133

<< First< Prev

Page of 2

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 879700	NM_000392.5(ABCC2):c.-89G>A	ABCC2	Single nucleotide variant (5 prime UTR variant)	Dubin-Johnson syndrome	GUncertain significance
Select item 298436	NM_000392.5(ABCC2):c.-43A>G	ABCC2	Single nucleotide variant (5 prime UTR variant)	Dubin-Johnson syndrome	GUncertain significance
Select item 879701	NM_000392.5(ABCC2):c.-40T>C	ABCC2	Single nucleotide variant (5 prime UTR variant)	Dubin-Johnson syndrome	GUncertain significance
Select item 298437	NM_000392.5(ABCC2):c.-24C>T	ABCC2	Single nucleotide variant (5 prime UTR variant)	not specified +3 more	GBenign/Likely benign
Select item 877756	NM_000392.5(ABCC2):c.-23G>A	ABCC2	Single nucleotide variant (5 prime UTR variant)	Dubin-Johnson syndrome	GBenign
Select item 597092	NM_000392.5(ABCC2):c.23C>T (p.Ser8Phe)	ABCC2 (S8F)	Single nucleotide variant (missense variant)	ABCC2-related condition +2 more	GUncertain significance
Select item 298438	NM_000392.5(ABCC2):c.33+13A>G	ABCC2	Single nucleotide variant (intron variant)	Dubin-Johnson syndrome +1 more	GConflicting classifications of pathogenicity
Select item 708493	NM_000392.5(ABCC2):c.34-8G>A	ABCC2, LOC108281165	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 877757	NM_000392.5(ABCC2):c.56C>T (p.Pro19Leu)	ABCC2, LOC108281165 (P19L)	Single nucleotide variant (missense variant)	ABCC2-related condition +2 more	GUncertain significance
Select item 298439	NM_000392.5(ABCC2):c.57G>A (p.Pro19=)	ABCC2, LOC108281165	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 298440	NM_000392.5(ABCC2):c.108C>T (p.Pro36=)	ABCC2, LOC108281165	Single nucleotide variant (synonymous variant)	Dubin-Johnson syndrome	GUncertain significance
Select item 289985	NM_000392.5(ABCC2):c.150C>T (p.His50=)	ABCC2, LOC108281165	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 286427	NM_000392.5(ABCC2):c.159A>G (p.Lys53=)	ABCC2, LOC108281165	Single nucleotide variant (synonymous variant)	Dubin-Johnson syndrome +2 more	GBenign/Likely benign
Select item 878785	NM_000392.5(ABCC2):c.169A>C (p.Lys57Gln)	ABCC2, LOC108281165 (K57Q)	Single nucleotide variant (missense variant)	Dubin-Johnson syndrome	GUncertain significance
Select item 878786	NM_000392.5(ABCC2):c.214G>A (p.Val72Ile)	ABCC2 (V72I)	Single nucleotide variant (missense variant)	Dubin-Johnson syndrome	GUncertain significance
Select item 631621	NM_000392.5(ABCC2):c.411del (p.Leu138fs)	ABCC2 (L138fs)	Deletion (frameshift variant)	Dubin-Johnson syndrome	GUncertain significance
Select item 298441	NM_000392.5(ABCC2):c.577-11G>T	ABCC2	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 878787	NM_000392.5(ABCC2):c.606T>C (p.Ser202=)	ABCC2	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 878788	NM_000392.5(ABCC2):c.677T>A (p.Val226Asp)	ABCC2 (V226D)	Single nucleotide variant (missense variant)	Dubin-Johnson syndrome	GUncertain significance
Select item 298442	NM_000392.5(ABCC2):c.732G>A (p.Thr244=)	ABCC2	Single nucleotide variant (synonymous variant)	Dubin-Johnson syndrome +1 more	GConflicting classifications of pathogenicity
Select item 500162	NM_000392.5(ABCC2):c.736A>C (p.Met246Leu)	ABCC2 (M246L)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 298443	NM_000392.5(ABCC2):c.764G>A (p.Arg255Gln)	ABCC2 (R255Q)	Single nucleotide variant (missense variant)	Dubin-Johnson syndrome	GUncertain significance
Select item 198419	NM_000392.5(ABCC2):c.842G>A (p.Ser281Asn)	ABCC2 (S281N)	Single nucleotide variant (missense variant)	not specified +2 more	GLikely benign
Select item 499389	NM_000392.5(ABCC2):c.998A>G (p.Asp333Gly)	ABCC2 (D333G)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 287495	NM_000392.5(ABCC2):c.1007C>T (p.Thr336Met)	ABCC2 (T336M)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 298444	NM_000392.5(ABCC2):c.1008G>A (p.Thr336=)	ABCC2	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 879377	NM_000392.5(ABCC2):c.1031+4A>G	ABCC2	Single nucleotide variant (intron variant)	Dubin-Johnson syndrome +2 more	GConflicting classifications of pathogenicity
Select item 298445	NM_000392.5(ABCC2):c.1032-14C>A	ABCC2	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 290082	NM_000392.5(ABCC2):c.1032-3C>T	ABCC2	Single nucleotide variant (intron variant)	ABCC2-related condition +2 more	GConflicting classifications of pathogenicity
Select item 298446	NM_000392.5(ABCC2):c.1058G>A (p.Arg353His)	ABCC2 (R353H)	Single nucleotide variant (missense variant)	Dubin-Johnson syndrome +2 more	GBenign/Likely benign
Select item 879761	NM_000392.5(ABCC2):c.1179G>A (p.Arg393=)	ABCC2	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 879762	NM_000392.5(ABCC2):c.1209+14G>A	ABCC2	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 298447	NM_000392.5(ABCC2):c.1209+15G>A	ABCC2	Single nucleotide variant (intron variant)	Dubin-Johnson syndrome +1 more	GConflicting classifications of pathogenicity
Select item 298448	NM_000392.5(ABCC2):c.1219C>T (p.Leu407=)	ABCC2	Single nucleotide variant (synonymous variant)	Dubin-Johnson syndrome +1 more	GBenign
Select item 298449	NM_000392.5(ABCC2):c.1233C>T (p.Ala411=)	ABCC2	Single nucleotide variant (synonymous variant)	Dubin-Johnson syndrome	GUncertain significance
Select item 255992	NM_000392.5(ABCC2):c.1249G>A (p.Val417Ile)	ABCC2 (V417I)	Single nucleotide variant (missense variant)	ABCC2-related condition +3 more	GBenign
Select item 298450	NM_000392.5(ABCC2):c.1250T>C (p.Val417Ala)	ABCC2 (V417A)	Single nucleotide variant (missense variant)	Dubin-Johnson syndrome +1 more	GConflicting classifications of pathogenicity
Select item 877801	NM_000392.5(ABCC2):c.1312A>G (p.Met438Val)	ABCC2 (M438V)	Single nucleotide variant (missense variant)	Dubin-Johnson syndrome	GUncertain significance
Select item 594246	NM_000392.5(ABCC2):c.1325G>A (p.Trp442Ter)	ABCC2 (W442*)	Single nucleotide variant (nonsense)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 298451	NM_000392.5(ABCC2):c.1346T>C (p.Val449Ala)	ABCC2 (V449A)	Single nucleotide variant (missense variant)	Dubin-Johnson syndrome	GUncertain significance
Select item 877802	NM_000392.5(ABCC2):c.1389C>T (p.Val463=)	ABCC2	Single nucleotide variant (synonymous variant)	Dubin-Johnson syndrome	GUncertain significance
Select item 598397	NM_000392.5(ABCC2):c.1434G>A (p.Ala478=)	ABCC2	Single nucleotide variant (synonymous variant)	ABCC2-related condition +2 more	GConflicting classifications of pathogenicity
Select item 255993	NM_000392.5(ABCC2):c.1446C>G (p.Thr482=)	ABCC2	Single nucleotide variant (synonymous variant)	ABCC2-related condition +2 more	GBenign/Likely benign
Select item 502064	NM_000392.5(ABCC2):c.1457C>T (p.Thr486Ile)	ABCC2 (T486I)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 193811	NM_000392.5(ABCC2):c.1483A>G (p.Lys495Glu)	ABCC2 (K495E)	Single nucleotide variant (missense variant)	ABCC2-related condition +3 more	GConflicting classifications of pathogenicity
Select item 298452	NM_000392.5(ABCC2):c.1602G>T (p.Lys534Asn)	ABCC2 (K534N)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 877964	NM_000392.5(ABCC2):c.1658C>T (p.Thr553Ile)	ABCC2 (T553I)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 877965	NM_000392.5(ABCC2):c.1783A>G (p.Met595Val)	ABCC2 (M595V)	Single nucleotide variant (missense variant)	Dubin-Johnson syndrome	GUncertain significance
Select item 298453	NM_000392.5(ABCC2):c.1815+4G>A	ABCC2	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 877966	NM_000392.5(ABCC2):c.1855G>T (p.Gly619Trp)	ABCC2 (G619W)	Single nucleotide variant (missense variant)	Dubin-Johnson syndrome	GUncertain significance
Select item 298454	NM_000392.5(ABCC2):c.1860T>A (p.Asp620Glu)	ABCC2 (D620E)	Single nucleotide variant (missense variant)	ABCC2-related condition +3 more	GUncertain significance
Select item 707868	NM_000392.5(ABCC2):c.2009T>C (p.Ile670Thr)	ABCC2 (I670T)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 877967	NM_000392.5(ABCC2):c.2020G>A (p.Gly674Ser)	ABCC2 (G674S)	Single nucleotide variant (missense variant)	Dubin-Johnson syndrome	GUncertain significance
Select item 282328	NM_000392.5(ABCC2):c.2073C>A (p.Val691=)	ABCC2	Single nucleotide variant (synonymous variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 879425	NM_000392.5(ABCC2):c.2076C>T (p.His692=)	ABCC2	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 593217	NM_000392.5(ABCC2):c.2093A>G (p.Lys698Arg)	ABCC2 (K698R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 298455	NM_000392.5(ABCC2):c.2095-6A>G	ABCC2	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 879426	NM_000392.5(ABCC2):c.2155A>G (p.Ile719Val)	ABCC2 (I719V)	Single nucleotide variant (missense variant)	Dubin-Johnson syndrome	GUncertain significance
Select item 191014	NM_000392.5(ABCC2):c.2273G>T (p.Gly758Val)	ABCC2 (G758V)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 879427	NM_000392.5(ABCC2):c.2296A>C (p.Lys766Gln)	ABCC2 (K766Q)	Single nucleotide variant (missense variant)	Dubin-Johnson syndrome	GUncertain significance
Select item 298456	NM_000392.5(ABCC2):c.2362_2363del (p.Leu788fs)	ABCC2 (L788fs)	Deletion (frameshift variant)	Dubin-Johnson syndrome +1 more	GConflicting classifications of pathogenicity
Select item 879428	NM_000392.5(ABCC2):c.2366C>T (p.Ser789Phe)	ABCC2 (S789F)	Single nucleotide variant (missense variant)	ABCC2-related condition +2 more	GConflicting classifications of pathogenicity
Select item 879429	NM_000392.5(ABCC2):c.2439+12T>C	ABCC2	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 298457	NM_000392.5(ABCC2):c.2546T>G (p.Leu849Arg)	ABCC2 (L849R)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 298458	NM_000392.5(ABCC2):c.2588T>C (p.Leu863Pro)	ABCC2 (L863P)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 288094	NM_000392.5(ABCC2):c.2613A>G (p.Glu871=)	ABCC2	Single nucleotide variant (synonymous variant)	Dubin-Johnson syndrome +1 more	GConflicting classifications of pathogenicity
Select item 282329	NM_000392.5(ABCC2):c.2743C>T (p.Arg915Cys)	ABCC2, LOC126861012 (R915C)	Single nucleotide variant (missense variant)	not provided +3 more	GLikely benign
Select item 298459	NM_000392.5(ABCC2):c.2747+5G>A	LOC126861012, ABCC2	Single nucleotide variant (intron variant)	not provided +2 more	GBenign/Likely benign
Select item 879803	NM_000392.5(ABCC2):c.2747+12A>G	ABCC2, LOC126861012	Single nucleotide variant (intron variant)	Dubin-Johnson syndrome	GUncertain significance
Select item 773519	NM_000392.5(ABCC2):c.2761G>A (p.Gly921Ser)	ABCC2, LOC126861012 (G921S)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 282331	NM_000392.5(ABCC2):c.2813G>A (p.Ser938Asn)	ABCC2, LOC126861012 (S938N)	Single nucleotide variant (missense variant)	Dubin-Johnson syndrome +3 more	GLikely benign
Select item 298460	NM_000392.5(ABCC2):c.2883+11C>T	ABCC2, LOC126861012	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 596096	NM_000392.5(ABCC2):c.2911C>G (p.Leu971Val)	ABCC2 (L971V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 732860	NM_000392.5(ABCC2):c.2934G>A (p.Ser978=)	ABCC2	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 282330	NM_000392.5(ABCC2):c.2944A>G (p.Ile982Val)	ABCC2 (I982V)	Single nucleotide variant (missense variant)	not specified +3 more	GLikely benign
Select item 498612	NM_000392.5(ABCC2):c.2955G>A (p.Ala985=)	ABCC2	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 877862	NM_000392.5(ABCC2):c.2964G>T (p.Met988Ile)	ABCC2 (M988I)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 632122	NM_000392.5(ABCC2):c.2997G>A (p.Trp999Ter)	ABCC2 (W999*)	Single nucleotide variant (nonsense)	Dubin-Johnson syndrome	GUncertain significance
Select item 877863	NM_000392.5(ABCC2):c.3025A>G (p.Ile1009Val)	ABCC2 (I1009V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 592313	NM_000392.5(ABCC2):c.3057G>C (p.Gln1019His)	ABCC2 (Q1019H)	Single nucleotide variant (missense variant)	ABCC2-related condition +2 more	GConflicting classifications of pathogenicity
Select item 298461	NM_000392.5(ABCC2):c.3068G>T (p.Arg1023Ile)	ABCC2 (R1023I)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 289549	NM_000392.5(ABCC2):c.3081C>T (p.Tyr1027=)	ABCC2	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 632123	NM_000392.5(ABCC2):c.3104-1G>A	ABCC2	Single nucleotide variant (splice acceptor variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 195729	NM_000392.5(ABCC2):c.3107T>C (p.Ile1036Thr)	ABCC2 (I1036T)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 738115	NM_000392.5(ABCC2):c.3147C>T (p.Phe1049=)	ABCC2	Single nucleotide variant (synonymous variant)	Dubin-Johnson syndrome +2 more	GConflicting classifications of pathogenicity
Select item 282327	NM_000392.5(ABCC2):c.3188A>G (p.Asn1063Ser)	ABCC2 (N1063S)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 31603	NM_000392.5(ABCC2):c.3196C>T (p.Arg1066Ter)	ABCC2 (R1066*)	Single nucleotide variant (nonsense)	ABCC2-related condition +2 more	GPathogenic/Likely pathogenic
Select item 498042	NM_000392.5(ABCC2):c.3236G>A (p.Arg1079Gln)	ABCC2 (R1079Q)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 298462	NM_000392.5(ABCC2):c.3239T>C (p.Ile1080Thr)	ABCC2 (I1080T)	Single nucleotide variant (missense variant)	Dubin-Johnson syndrome	GUncertain significance
Select item 298463	NM_000392.5(ABCC2):c.3256G>A (p.Gly1086Ser)	ABCC2 (G1086S)	Single nucleotide variant (missense variant)	Dubin-Johnson syndrome	GUncertain significance
Select item 879486	NM_000392.5(ABCC2):c.3259-11C>T	ABCC2, LOC126861013	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 497084	NM_000392.5(ABCC2):c.3298C>T (p.Arg1100Cys)	LOC126861013, ABCC2 (R1100C)	Single nucleotide variant (missense variant)	Dubin-Johnson syndrome +1 more	GUncertain significance
Select item 298464	NM_000392.5(ABCC2):c.3357C>T (p.Ala1119=)	ABCC2, LOC126861013	Single nucleotide variant (synonymous variant)	Dubin-Johnson syndrome +2 more	GConflicting classifications of pathogenicity
Select item 771742	NM_000392.5(ABCC2):c.3396T>C (p.Ile1132=)	ABCC2, LOC126861013	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 298465	NM_000392.5(ABCC2):c.3492C>T (p.Ser1164=)	ABCC2	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 298466	NM_000392.5(ABCC2):c.3500T>C (p.Val1167Ala)	ABCC2 (V1167A)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 8418	NM_000392.5(ABCC2):c.3517A>T (p.Ile1173Phe)	ABCC2 (I1173F)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 879487	NM_000392.5(ABCC2):c.3542G>A (p.Arg1181Gln)	ABCC2 (R1181Q)	Single nucleotide variant (missense variant)	Dubin-Johnson syndrome	GUncertain significance
Select item 195851	NM_000392.5(ABCC2):c.3542G>T (p.Arg1181Leu)	ABCC2 (R1181L)	Single nucleotide variant (missense variant)	ABCC2-related condition +3 more	GBenign/Likely benign
Select item 298467	NM_000392.5(ABCC2):c.3563T>A (p.Val1188Glu)	ABCC2 (V1188E)	Single nucleotide variant (missense variant)	Dubin-Johnson syndrome +2 more	GBenign/Likely benign

<< First< Prev

Page of 2