46[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155519	GRCh38/hg38 7p22.3-15.2(chr7:43360-27196404)x3	LOC129998085, LOC129998086 +904 more	Copy number gain	See cases	GPathogenic
Select item 148758	GRCh38/hg38 7p22.3-15.3(chr7:45130-25221165)x3	RAC1, RADIL +823 more	Copy number gain	See cases	GPathogenic
Select item 147357	GRCh38/hg38 7p22.3-15.2(chr7:54185-26827634)x3	HYCC1, ICA1 +879 more	Copy number gain	See cases	GPathogenic
Select item 146075	GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1	CUL1, CUX1 +4737 more	Copy number loss	See cases	GPathogenic
Select item 59678	GRCh38/hg38 7p22.3-14.2(chr7:54185-37089712)x3	LOC129998210, LOC129998211 +1148 more	Copy number gain	See cases	GPathogenic
Select item 57453	GRCh38/hg38 7p22.3-14.1(chr7:54185-41875885)x3	ABCB5, ACTB +1298 more	Copy number gain	See cases	GPathogenic
Select item 154993	GRCh38/hg38 7p22.3-15.2(chr7:1698124-27207295)x3	ABCB5, ACTB +769 more	Copy number gain	See cases	GPathogenic
Select item 147466	GRCh38/hg38 7p22.1-15.2(chr7:5682209-27230311)x3	ABCB5, AGMO +560 more	Copy number gain	See cases	GPathogenic
Select item 154641	GRCh38/hg38 7p21.3-15.2(chr7:10610069-25760560)x1	LOC129998072, LOC129998073 +331 more	Copy number loss	See cases	GPathogenic
Select item 148859	GRCh38/hg38 7p21.2-15.3(chr7:15533812-24851432)x1	ABCB5, AGMO +248 more	Copy number loss	See cases	GPathogenic
Select item 59679	GRCh38/hg38 7p21.2-15.2(chr7:16234212-26167278)x3	ABCB5, AGR2 +287 more	Copy number gain	See cases	GPathogenic
Select item 58535	GRCh38/hg38 7p21.1-15.3(chr7:18505390-21417733)x1	ABCB5, FERD3L +63 more	Copy number loss	See cases	GPathogenic
Select item 149762	GRCh38/hg38 7p21.1(chr7:18660228-20666885)x3	LOC129998025, LOC129998026 +38 more	Copy number gain	See cases	GUncertain significance
Select item 147684	GRCh38/hg38 7p21.1-15.3(chr7:19145712-22193713)x1	ABCB5, CDCA7L +76 more	Copy number loss	See cases	GPathogenic
Select item 147387	GRCh38/hg38 7p21.1(chr7:19178547-20733512)x3	ABCB5, GIRGL +29 more	Copy number gain	See cases	GUncertain significance
Select item 144929	GRCh38/hg38 7p21.1-15.2(chr7:20210912-27849400)x1	LOC111365192, LOC111413014 +281 more	Copy number loss	See cases	GPathogenic
Select item 147609	GRCh38/hg38 7p21.1-14.3(chr7:20561456-32005143)x1	ABCB5, ADCYAP1R1 +387 more	Copy number loss	See cases	GPathogenic
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 3535458	NM_001163941.2(ABCB5):c.512T>C (p.Ile171Thr)	ABCB5 (I171T)	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 3534448	NM_001163941.2(ABCB5):c.926G>A (p.Gly309Glu)	ABCB5 (G309E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3534986	NM_001163941.2(ABCB5):c.944A>T (p.Asn315Ile)	ABCB5 (N315I)	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 3535280	NM_001163941.2(ABCB5):c.1013G>A (p.Cys338Tyr)	ABCB5 (C338Y)	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 3535367	NM_001163941.2(ABCB5):c.1069T>A (p.Phe357Ile)	ABCB5 (F357I)	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 3535184	NM_001163941.2(ABCB5):c.1196C>T (p.Pro399Leu)	ABCB5 (P399L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3534157	NM_001163941.2(ABCB5):c.1213A>G (p.Lys405Glu)	ABCB5 (K405E)	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 3535090	NM_001163941.2(ABCB5):c.1687G>A (p.Val563Ile)	ABCB5 (V118I +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 3534082	NM_001163941.2(ABCB5):c.1709C>T (p.Ala570Val)	ABCB5 (A125V +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 3533983	NM_001163941.2(ABCB5):c.1781C>T (p.Thr594Ile)	ABCB5 (T594I +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 3534801	NM_001163941.2(ABCB5):c.1863G>A (p.Met621Ile)	ABCB5 (M176I +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 3534894	NM_001163941.2(ABCB5):c.2059C>T (p.Pro687Ser)	ABCB5 (P687S +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
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 3535526	NM_001163941.2(ABCB5):c.2230G>T (p.Val744Phe)	ABCB5 (V744F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3534724	NM_001163941.2(ABCB5):c.2255T>C (p.Met752Thr)	ABCB5 (M307T +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 3534613	NM_001163941.2(ABCB5):c.2328G>A (p.Met776Ile)	ABCB5 (M331I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3534682	NM_001163941.2(ABCB5):c.2362G>A (p.Glu788Lys)	ABCB5 (E788K +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 3534521	NM_001163941.2(ABCB5):c.2528G>C (p.Ser843Thr)	ABCB5 (S398T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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