ClinVar for Gene (Select 340273) - ClinVar - NCBI

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

Links from Gene

Items: 1 to 100 of 130

<< First< Prev

Page of 2

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3292239	NM_001163941.2(ABCB5):c.1766C>T (p.Ala589Val)	ABCB5 (A144V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3292144	NM_001163941.2(ABCB5):c.790A>G (p.Lys264Glu)	ABCB5 (K264E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3292048	NM_001163941.2(ABCB5):c.2519T>A (p.Leu840Gln)	ABCB5 (L395Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3291947	NM_001163941.2(ABCB5):c.1409A>G (p.Glu470Gly)	ABCB5 (E25G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3291883	NM_001163941.2(ABCB5):c.3211C>G (p.Gln1071Glu)	ABCB5 (Q1071E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3291837	NM_001163941.2(ABCB5):c.2435G>C (p.Arg812Thr)	ABCB5 (R812T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3291748	NM_001163941.2(ABCB5):c.113G>A (p.Arg38His)	ABCB5 (R38H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3291644	NM_001163941.2(ABCB5):c.1870G>T (p.Asp624Tyr)	ABCB5 (D179Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3291545	NM_001163941.2(ABCB5):c.433C>T (p.His145Tyr)	ABCB5 (H145Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3291450	NM_001163941.2(ABCB5):c.2953G>A (p.Ala985Thr)	ABCB5 (A540T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3291379	NM_001163941.2(ABCB5):c.824A>G (p.Asp275Gly)	ABCB5 (D275G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3291276	NM_001163941.2(ABCB5):c.662C>T (p.Ala221Val)	ABCB5 (A221V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3123680	NM_001163941.2(ABCB5):c.80G>T (p.Arg27Ile)	ABCB5 (R27I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3123365	NM_001163941.2(ABCB5):c.592G>A (p.Val198Ile)	ABCB5 (V198I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3123331	NM_001163941.2(ABCB5):c.587T>C (p.Leu196Pro)	ABCB5 (L196P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3123302	NM_001163941.2(ABCB5):c.545T>C (p.Ile182Thr)	ABCB5 (I182T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3122919	NM_001163941.2(ABCB5):c.3374T>A (p.Ile1125Asn)	ABCB5 (I680N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3122881	NM_001163941.2(ABCB5):c.3320T>C (p.Ile1107Thr)	ABCB5 (I1107T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3122710	NM_001163941.2(ABCB5):c.3071A>C (p.Tyr1024Ser)	ABCB5 (Y1024S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3122650	NM_001163941.2(ABCB5):c.2822C>A (p.Ala941Asp)	ABCB5 (A941D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3122593	NM_001163941.2(ABCB5):c.272A>G (p.Asn91Ser)	ABCB5 (N91S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3122564	NM_001163941.2(ABCB5):c.2582G>C (p.Gly861Ala)	ABCB5 (G416A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3122285	NM_001163941.2(ABCB5):c.2125T>A (p.Phe709Ile)	ABCB5 (F264I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3122253	NM_001163941.2(ABCB5):c.2069C>G (p.Pro690Arg)	ABCB5 (P690R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3122228	NM_001163941.2(ABCB5):c.2029T>C (p.Ser677Pro)	ABCB5 (S232P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3122185	NM_001163941.2(ABCB5):c.2020C>T (p.Pro674Ser)	ABCB5 (P229S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3122096	NM_001163941.2(ABCB5):c.1829T>C (p.Met610Thr)	ABCB5 (M610T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3121982	NM_001163941.2(ABCB5):c.1787A>C (p.Lys596Thr)	ABCB5 (K151T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3121838	NM_001163941.2(ABCB5):c.1708G>T (p.Ala570Ser)	ABCB5 (A125S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3121751	NM_001163941.2(ABCB5):c.1678A>C (p.Lys560Gln)	ABCB5 (K115Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3121589	NM_001163941.2(ABCB5):c.1088T>C (p.Ile363Thr)	ABCB5 (I363T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3121554	NM_001163941.2(ABCB5):c.1058G>A (p.Arg353Gln)	ABCB5 (R353Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3062983	GRCh37/hg19 7p21.1-14.3(chr7:17736012-30663423)x1	ABCB5, CBX3 +75 more	Copy number loss	not specified	GPathogenic
Select item 3062961	GRCh37/hg19 7p21.3-15.2(chr7:13107394-27514163)x1	ABCB5, AGMO +71 more	Copy number loss	not specified	GPathogenic
Select item 2685237	GRCh37/hg19 7p21.1-15.3(chr7:18603745-21437047)x1	ABCB5, FERD3L +7 more	Copy number loss	not provided	GPathogenic
Select item 2657335	NM_001163941.2(ABCB5):c.3735C>T (p.Asp1245=)	ABCB5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2657334	NM_001163941.2(ABCB5):c.1659T>G (p.Ser553=)	ABCB5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2657333	NM_001163941.2(ABCB5):c.1048G>A (p.Ala350Thr)	ABCB5 (A350T)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2622575	NM_001163941.2(ABCB5):c.251C>T (p.Thr84Ile)	ABCB5 (T84I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2616416	NM_001163941.2(ABCB5):c.1717G>T (p.Gly573Cys)	ABCB5 (G573C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2615664	NM_001163941.2(ABCB5):c.1738G>T (p.Ala580Ser)	ABCB5 (A135S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2601522	NM_001163941.2(ABCB5):c.1745G>A (p.Arg582Gln)	ABCB5 (R137Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2595401	NM_001163941.2(ABCB5):c.2297T>C (p.Met766Thr)	ABCB5 (M766T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2594737	NM_001163941.2(ABCB5):c.2218G>A (p.Val740Ile)	ABCB5 (V740I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2560274	NM_001163941.2(ABCB5):c.3264G>C (p.Trp1088Cys)	ABCB5 (W1088C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2556913	NM_001163941.2(ABCB5):c.3176C>T (p.Ser1059Phe)	ABCB5 (S1059F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2544860	NM_001163941.2(ABCB5):c.3409T>G (p.Phe1137Val)	ABCB5 (F1137V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2544252	NM_001163941.2(ABCB5):c.147C>G (p.Ile49Met)	ABCB5 (I49M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2542648	NM_001163941.2(ABCB5):c.845A>C (p.Lys282Thr)	ABCB5 (K282T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2542040	NM_001163941.2(ABCB5):c.1862T>C (p.Met621Thr)	ABCB5 (M176T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2536854	NM_001163941.2(ABCB5):c.2557A>G (p.Met853Val)	ABCB5 (M853V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2534818	NM_001163941.2(ABCB5):c.1958G>A (p.Ser653Asn)	ABCB5 (S208N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2527328	NM_001163941.2(ABCB5):c.653T>A (p.Met218Lys)	ABCB5 (M218K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2526509	NM_001163941.2(ABCB5):c.1825C>G (p.Leu609Val)	ABCB5 (L609V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2525841	NM_001163941.2(ABCB5):c.1655C>T (p.Thr552Met)	ABCB5 (T552M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2507587	NM_001163941.2(ABCB5):c.2272G>A (p.Gly758Ser)	ABCB5 (G758S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2495196	NM_001163941.2(ABCB5):c.2399T>C (p.Ile800Thr)	ABCB5 (I355T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2494811	NM_001163941.2(ABCB5):c.2739G>C (p.Lys913Asn)	ABCB5 (K913N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2481749	NM_001163941.2(ABCB5):c.1480A>T (p.Met494Leu)	ABCB5 (M494L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2480144	NM_001163941.2(ABCB5):c.139C>A (p.Leu47Ile)	ABCB5 (L47I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2479085	NM_001163941.2(ABCB5):c.64G>C (p.Glu22Gln)	ABCB5 (E22Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2411454	NM_001163941.2(ABCB5):c.3123G>C (p.Glu1041Asp)	ABCB5 (E1041D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2398637	NM_001163941.2(ABCB5):c.1267A>G (p.Asn423Asp)	ABCB5 (N423D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2397656	NM_001163941.2(ABCB5):c.1802C>T (p.Ala601Val)	ABCB5 (A156V +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2395587	NM_001163941.2(ABCB5):c.376T>C (p.Ser126Pro)	ABCB5 (S126P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2395412	NM_001163941.2(ABCB5):c.365A>T (p.Tyr122Phe)	ABCB5 (Y122F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2390031	NM_001163941.2(ABCB5):c.2026G>A (p.Val676Ile)	ABCB5 (V231I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2374478	NM_001163941.2(ABCB5):c.3707C>T (p.Thr1236Ile)	ABCB5 (T1236I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2358660	NM_001163941.2(ABCB5):c.2933A>G (p.Tyr978Cys)	ABCB5 (Y533C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2346882	NM_001163941.2(ABCB5):c.3121G>C (p.Glu1041Gln)	ABCB5 (E596Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2341624	NM_001163941.2(ABCB5):c.3747G>C (p.Lys1249Asn)	ABCB5 (K1249N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2336594	NM_001163941.2(ABCB5):c.1351G>A (p.Asp451Asn)	ABCB5 (D451N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2325943	NM_001163941.2(ABCB5):c.496C>T (p.Arg166Cys)	ABCB5 (R166C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2321901	NM_001163941.2(ABCB5):c.2570C>T (p.Ala857Val)	ABCB5 (A857V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2315909	NM_001163941.2(ABCB5):c.179C>A (p.Ala60Asp)	ABCB5 (A60D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2315397	NM_001163941.2(ABCB5):c.3412A>C (p.Ile1138Leu)	ABCB5 (I1138L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2312583	NM_001163941.2(ABCB5):c.677G>T (p.Arg226Met)	ABCB5 (R226M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2309890	NM_001163941.2(ABCB5):c.241C>G (p.Leu81Val)	ABCB5 (L81V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2305681	NM_001163941.2(ABCB5):c.44A>G (p.Gln15Arg)	ABCB5 (Q15R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2298318	NM_001163941.2(ABCB5):c.169G>A (p.Val57Ile)	ABCB5 (V57I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2295096	NM_001163941.2(ABCB5):c.3533T>C (p.Leu1178Ser)	ABCB5 (L1178S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2293139	NM_001163941.2(ABCB5):c.176G>A (p.Gly59Glu)	ABCB5 (G59E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2291311	NM_001163941.2(ABCB5):c.1687G>C (p.Val563Leu)	ABCB5 (V563L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2287474	NM_001163941.2(ABCB5):c.3255T>G (p.Asn1085Lys)	ABCB5 (N1085K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2259380	NM_001163941.2(ABCB5):c.382T>C (p.Trp128Arg)	ABCB5 (W128R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2250567	NM_001163941.2(ABCB5):c.605A>G (p.Lys202Arg)	ABCB5 (K202R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2247759	NM_001163941.2(ABCB5):c.2539G>C (p.Val847Leu)	ABCB5 (V847L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2220561	NM_001163941.2(ABCB5):c.697A>C (p.Ser233Arg)	ABCB5 (S233R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2215073	NM_001163941.2(ABCB5):c.997A>T (p.Ile333Phe)	ABCB5 (I333F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2213726	NM_001163941.2(ABCB5):c.3577G>T (p.Val1193Leu)	ABCB5 (V748L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1809224	GRCh37/hg19 7p21.1-15.3(chr7:20765631-21279909)x3	ABCB5, SP8	Copy number gain	not provided	GUncertain significance
Select item 1708459	GRCh37/hg19 7p22.3-q36.3(chr7:56604613-96692931)x1	AASS, ABCA13 +896 more	Copy number loss	See cases	GUncertain significance
Select item 1703560	Single allele	CACNA2D1, CADPS2 +896 more	Complex	Ring chromosome 7	GPathogenic
Select item 1527336	GRCh37/hg19 7p21.3-14.2(chr7:10745750-35305167)	ABCB5, ADCYAP1R1 +117 more	Copy number gain	not specified	GLikely pathogenic
Select item 1527335	GRCh37/hg19 7p21.3-15.3(chr7:9358316-20982082)	ABCB5, AGMO +29 more	Copy number loss	not specified	GPathogenic
Select item 785211	NM_001163941.2(ABCB5):c.3370G>A (p.Glu1124Lys)	ABCB5 (E679K +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 784107	NM_001163941.2(ABCB5):c.2715G>T (p.Gln905His)	ABCB5 (Q460H +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 776209	NM_001163941.2(ABCB5):c.679-10T>G	ABCB5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 749569	NM_001163941.2(ABCB5):c.1599C>T (p.Ile533=)	ABCB5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 747759	NM_001163941.2(ABCB5):c.3626T>C (p.Val1209Ala)	ABCB5 (V1209A +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign

<< First< Prev

Page of 2