ABCB5[gene] and "single gene"[properties] - ClinVar

Search results

Items: 93

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 2479085	NM_001163941.2(ABCB5):c.64G>C (p.Glu22Gln)	ABCB5 (E22Q)	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 3291748	NM_001163941.2(ABCB5):c.113G>A (p.Arg38His)	ABCB5 (R38H)	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 2544252	NM_001163941.2(ABCB5):c.147C>G (p.Ile49Met)	ABCB5 (I49M)	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 2293139	NM_001163941.2(ABCB5):c.176G>A (p.Gly59Glu)	ABCB5 (G59E)	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 2309890	NM_001163941.2(ABCB5):c.241C>G (p.Leu81Val)	ABCB5 (L81V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 3122593	NM_001163941.2(ABCB5):c.272A>G (p.Asn91Ser)	ABCB5 (N91S)	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 2395587	NM_001163941.2(ABCB5):c.376T>C (p.Ser126Pro)	ABCB5 (S126P)	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 3291545	NM_001163941.2(ABCB5):c.433C>T (p.His145Tyr)	ABCB5 (H145Y)	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 3123302	NM_001163941.2(ABCB5):c.545T>C (p.Ile182Thr)	ABCB5 (I182T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 3123365	NM_001163941.2(ABCB5):c.592G>A (p.Val198Ile)	ABCB5 (V198I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
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 2527328	NM_001163941.2(ABCB5):c.653T>A (p.Met218Lys)	ABCB5 (M218K)	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 2312583	NM_001163941.2(ABCB5):c.677G>T (p.Arg226Met)	ABCB5 (R226M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 776209	NM_001163941.2(ABCB5):c.679-10T>G	ABCB5	Single nucleotide variant (intron variant)	not provided	GBenign
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 3292144	NM_001163941.2(ABCB5):c.790A>G (p.Lys264Glu)	ABCB5 (K264E)	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 2542648	NM_001163941.2(ABCB5):c.845A>C (p.Lys282Thr)	ABCB5 (K282T)	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 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 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 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 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 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 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 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 749569	NM_001163941.2(ABCB5):c.1599C>T (p.Ile533=)	ABCB5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2657334	NM_001163941.2(ABCB5):c.1659T>G (p.Ser553=)	ABCB5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 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 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 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 729158	NM_001163941.2(ABCB5):c.1732G>A (p.Val578Met)	ABCB5 (V133M +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 784107	NM_001163941.2(ABCB5):c.2715G>T (p.Gln905His)	ABCB5 (Q460H +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
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 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 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 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 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 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 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 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 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 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 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 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 785211	NM_001163941.2(ABCB5):c.3370G>A (p.Glu1124Lys)	ABCB5 (E679K +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
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 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 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 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 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 747759	NM_001163941.2(ABCB5):c.3626T>C (p.Val1209Ala)	ABCB5 (V1209A +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
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 2657335	NM_001163941.2(ABCB5):c.3735C>T (p.Asp1245=)	ABCB5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 93