ClinVar for Gene (Select 162) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3127432	NM_001127.4(AP1B1):c.911G>A (p.Arg304His)	AP1B1 (R247H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3127431	NM_001127.4(AP1B1):c.700G>A (p.Asp234Asn)	AP1B1 (D234N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3127430	NM_001127.4(AP1B1):c.2713G>C (p.Gly905Arg)	AP1B1 (G878R +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3127429	NM_001127.4(AP1B1):c.2668G>A (p.Val890Met)	AP1B1 (V821M +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3127428	NM_001127.4(AP1B1):c.2335C>G (p.Leu779Val)	AP1B1 (L779V +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3127427	NM_001127.4(AP1B1):c.2263G>T (p.Ala755Ser)	AP1B1 (A686S +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3127426	NM_001127.4(AP1B1):c.2216C>T (p.Thr739Ile)	AP1B1 (T675I +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3127425	NM_001127.4(AP1B1):c.1787G>A (p.Arg596His)	AP1B1 (R539H +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3127424	NM_001127.4(AP1B1):c.1135C>T (p.Arg379Cys)	AP1B1 (R322C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3062455	GRCh37/hg19 22q12.2(chr22:29765949-29812660)x1	AP1B1	Copy number loss	not specified	GUncertain significance
Select item 3056347	NM_001127.4(AP1B1):c.2524+5G>A	AP1B1	Single nucleotide variant (intron variant)	AP1B1-related disorder	GLikely benign
Select item 3054748	NM_001127.4(AP1B1):c.2309+8C>T	AP1B1	Single nucleotide variant (intron variant)	AP1B1-related disorder	GLikely benign
Select item 3054018	NM_001127.4(AP1B1):c.2164-8C>T	AP1B1	Single nucleotide variant (intron variant)	AP1B1-related disorder	GLikely benign
Select item 3053363	NM_001127.4(AP1B1):c.1765G>A (p.Val589Met)	AP1B1 (V532M +1 more)	Single nucleotide variant (missense variant +1 more)	AP1B1-related disorder	GLikely benign
Select item 3049847	NM_001127.4(AP1B1):c.1827C>G (p.Ala609=)	AP1B1	Single nucleotide variant (synonymous variant +1 more)	AP1B1-related disorder	GLikely benign
Select item 3049727	NM_001127.4(AP1B1):c.987C>T (p.Asn329=)	AP1B1	Single nucleotide variant (synonymous variant)	AP1B1-related disorder	GLikely benign
Select item 3047984	NM_001127.4(AP1B1):c.261C>T (p.Ala87=)	AP1B1	Single nucleotide variant (synonymous variant)	AP1B1-related disorder	GLikely benign
Select item 3039348	NM_001127.4(AP1B1):c.2738G>A (p.Arg913Gln)	AP1B1 (R844Q +5 more)	Single nucleotide variant (missense variant)	AP1B1-related disorder +1 more	GLikely benign
Select item 3036048	NM_001127.4(AP1B1):c.704G>A (p.Arg235His)	AP1B1 (R178H +1 more)	Single nucleotide variant (missense variant)	AP1B1-related disorder	GLikely benign
Select item 3034306	NM_001127.4(AP1B1):c.1735A>G (p.Ser579Gly)	AP1B1 (M579V +2 more)	Single nucleotide variant (missense variant)	AP1B1-related disorder	GLikely benign
Select item 2653044	NM_001127.4(AP1B1):c.687T>C (p.Tyr229=)	AP1B1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2653043	NM_001127.4(AP1B1):c.1233C>T (p.Ile411=)	AP1B1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2622146	NM_001127.4(AP1B1):c.2722G>T (p.Val908Leu)	AP1B1 (V844L +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2612381	NM_001127.4(AP1B1):c.2065G>C (p.Ala689Pro)	AP1B1 (A632P +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2568876	NM_001127.4(AP1B1):c.2660A>G (p.Lys887Arg)	AP1B1 (K823R +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2553401	NM_001127.4(AP1B1):c.2600C>G (p.Pro867Arg)	AP1B1 (P840R +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2526647	NM_001127.4(AP1B1):c.1918C>A (p.Pro640Thr)	AP1B1 (P583T +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2519961	NM_001127.4(AP1B1):c.578G>A (p.Ser193Asn)	AP1B1 (S136N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2487254	NM_001127.4(AP1B1):c.2311T>C (p.Phe771Leu)	AP1B1 (F702L +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2394322	NM_001127.4(AP1B1):c.1087A>G (p.Thr363Ala)	AP1B1 (T363A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2393755	NM_001127.4(AP1B1):c.1828C>G (p.Pro610Ala)	AP1B1 (P553A +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2392405	NM_001127.4(AP1B1):c.1054G>A (p.Ala352Thr)	AP1B1 (A295T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2382929	NM_001127.4(AP1B1):c.1336G>A (p.Ala446Thr)	AP1B1 (A446T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2368741	NM_001127.4(AP1B1):c.2086G>A (p.Gly696Ser)	AP1B1 (G632S +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2360139	NM_001127.4(AP1B1):c.2779T>A (p.Ser927Thr)	AP1B1 (S867T +7 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2359864	NM_001127.4(AP1B1):c.1537G>T (p.Asp513Tyr)	AP1B1 (D513Y +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2338856	NM_001127.4(AP1B1):c.2117C>T (p.Thr706Ile)	AP1B1 (T637I +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2320658	NM_001127.4(AP1B1):c.1373G>A (p.Arg458Gln)	AP1B1 (R458Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2315743	NM_001127.4(AP1B1):c.2624G>T (p.Ser875Ile)	AP1B1 (S818I +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2290928	NM_001127.4(AP1B1):c.1564C>G (p.Arg522Gly)	AP1B1 (R465G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2275115	NM_001127.4(AP1B1):c.760G>A (p.Ala254Thr)	AP1B1 (A197T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2267837	NM_001127.4(AP1B1):c.2453ACA[1] (p.Asn819del)	AP1B1 (N750del +5 more)	Microsatellite (inframe_deletion)	Inborn genetic diseases	GUncertain significance
Select item 2261499	NM_001127.4(AP1B1):c.920A>G (p.Asn307Ser)	AP1B1 (N250S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2259567	NM_001127.4(AP1B1):c.2713G>A (p.Gly905Ser)	AP1B1 (G848S +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2258269	NM_001127.4(AP1B1):c.2635A>G (p.Ser879Gly)	AP1B1 (S822G +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2233004	NM_001127.4(AP1B1):c.1807G>A (p.Ala603Thr)	AP1B1 (A603T +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2231778	NM_001127.4(AP1B1):c.2310-3C>G	AP1B1	Single nucleotide variant (intron variant)	Inborn genetic diseases	GUncertain significance
Select item 2208540	NM_001127.4(AP1B1):c.1750G>C (p.Gly584Arg)	AP1B1 (G527R +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1807757	GRCh37/hg19 22q12.1-12.2(chr22:26614429-29847680)x1	AP1B1, ASPHD2 +25 more	Copy number loss	not provided	GPathogenic
Select item 1700248	NM_001127.4(AP1B1):c.2677C>T (p.Gln893Ter)	AP1B1 (Q824* +4 more)	Single nucleotide variant (nonsense)	Autosomal recessive keratitis-ichthyosis-deafness syndrome	GPathogenic
Select item 1700247	NM_001127.4(AP1B1):c.1852C>T (p.Gln618Ter)	AP1B1 (Q618* +1 more)	Single nucleotide variant (nonsense +1 more)	Autosomal recessive keratitis-ichthyosis-deafness syndrome	GPathogenic
Select item 1700246	NM_001127.4(AP1B1):c.668T>C (p.Leu223Pro)	AP1B1 (L223P +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive keratitis-ichthyosis-deafness syndrome	GPathogenic
Select item 1700245	NM_001127.4(AP1B1):c.322C>T (p.Arg108Trp)	AP1B1 (R108W +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive keratitis-ichthyosis-deafness syndrome	GPathogenic
Select item 1675881	NM_001127.4(AP1B1):c.2259C>A (p.Asn753Lys)	AP1B1 (N684K +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1675880	NM_001127.4(AP1B1):c.2524_2524+3dup	AP1B1	Duplication (splice donor variant)	not provided	GUncertain significance
Select item 1466555	NC_000022.10:g.(?_29083885)_(34046674_?)dup	SF3A1, SFI1 +71 more	Duplication	not provided	GUncertain significance
Select item 1339533	NM_001127.4(AP1B1):c.2T>C (p.Met1Thr)	AP1B1 (M1T)	Single nucleotide variant (missense variant +2 more)	Autosomal recessive keratitis-ichthyosis-deafness syndrome	GLikely pathogenic
Select item 1290542	NM_001127.4(AP1B1):c.143+173T>C	AP1B1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1290131	NM_001127.4(AP1B1):c.2163+27G>A	AP1B1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1289367	NM_001127.4(AP1B1):c.1060-157T>G	AP1B1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1288101	NM_001127.4(AP1B1):c.526-180T>C	AP1B1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1283172	NM_001127.4(AP1B1):c.1983T>C (p.Gly661=)	AP1B1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1282877	NM_001127.4(AP1B1):c.1537-74A>G	AP1B1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1282441	NM_001127.4(AP1B1):c.2163+182C>T	AP1B1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1281322	NM_001127.4(AP1B1):c.2020-188G>A	AP1B1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1279370	NM_001127.4(AP1B1):c.1537-39C>G	AP1B1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1271312	NM_001127.4(AP1B1):c.1437+175A>C	AP1B1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1266233	NM_001127.4(AP1B1):c.*18A>G	AP1B1	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1258451	NM_001127.4(AP1B1):c.717-170C>G	AP1B1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1251481	NM_001127.4(AP1B1):c.1438-174G>A	AP1B1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1249596	NM_001127.4(AP1B1):c.1156-114A>G	AP1B1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1248494	NM_001127.4(AP1B1):c.2019+96G>A	AP1B1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1248319	NM_001127.4(AP1B1):c.1437+130G>A	AP1B1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1242365	NM_001127.4(AP1B1):c.-27-74TCC[3]	AP1B1	Microsatellite (intron variant)	not provided	GBenign
Select item 1240572	NM_001127.4(AP1B1):c.38-93G>C	AP1B1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1234038	NM_001127.4(AP1B1):c.*146C>T	AP1B1	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1232708	NM_001127.4(AP1B1):c.2164-226T>C	AP1B1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1223013	NM_001127.4(AP1B1):c.-27-192G>A	AP1B1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1192402	NM_001127.4(AP1B1):c.204A>G (p.Leu68=)	AP1B1	Single nucleotide variant (synonymous variant)	Autosomal recessive keratitis-ichthyosis-deafness syndrome +1 more	GBenign
Select item 1192401	NM_001127.4(AP1B1):c.2349G>A (p.Ala783=)	AP1B1	Single nucleotide variant (synonymous variant)	Autosomal recessive keratitis-ichthyosis-deafness syndrome +1 more	GBenign
Select item 1179687	NM_001127.4(AP1B1):c.143+27C>A	AP1B1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1076756	NC_000022.10:g.(?_29105984)_(30337586_?)del	KREMEN1, MTMR3 +22 more	Deletion	Familial cancer of breast	GPathogenic
Select item 1076222	NC_000022.10:g.(?_29083885)_(30337586_?)del	CABP7, CCDC117 +22 more	Deletion	Neurofibromatosis, type 2	GPathogenic
Select item 1049873	NM_001127.4(AP1B1):c.565G>C (p.Glu189Gln)	AP1B1 (E132Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1049300	NM_001127.4(AP1B1):c.1280G>T (p.Ser427Ile)	AP1B1 (S370I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1048800	NM_001127.4(AP1B1):c.1263C>A (p.Tyr421Ter)	AP1B1 (Y364* +1 more)	Single nucleotide variant (nonsense)	Autosomal recessive keratitis-ichthyosis-deafness syndrome	GPathogenic
Select item 983188	GRCh37/hg19 22q11.1-13.33(chr22:16197005-51224252)x3	A4GALT, ACO2 +438 more	Copy number gain	See cases	GPathogenic
Select item 979602	GRCh37/hg19 22q12.1-12.2(chr22:28291202-30450920)x1	AP1B1, ASCC2 +24 more	Copy number loss	not provided	GPathogenic
Select item 832675	NC_000022.10:g.(?_29083875)_(30090801_?)del	ZNRF3, CCDC117 +17 more	Deletion	Familial cancer of breast	GPathogenic
Select item 805798	NM_001127.4(AP1B1):c.2374G>T (p.Glu792Ter)	AP1B1 (E792* +5 more)	Single nucleotide variant (nonsense)	Autosomal recessive keratitis-ichthyosis-deafness syndrome	GPathogenic
Select item 805797	NM_001127.4(AP1B1):c.2335del (p.Leu779fs)	AP1B1 (L752fs +5 more)	Deletion (frameshift variant)	Autosomal recessive keratitis-ichthyosis-deafness syndrome	GPathogenic
Select item 805796	NM_001127.4(AP1B1):c.430T>C (p.Cys144Arg)	AP1B1 (C144R +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive keratitis-ichthyosis-deafness syndrome	GPathogenic
Select item 805795	NM_001127.4(AP1B1):c.38-1G>A	AP1B1	Single nucleotide variant (intron variant +1 more)	Autosomal recessive keratitis-ichthyosis-deafness syndrome	GPathogenic
Select item 805794	NC_000022.10:g.29758984_29815476del	AP1B1	Deletion	Autosomal recessive keratitis-ichthyosis-deafness syndrome	GPathogenic
Select item 685636	GRCh37/hg19 22q11.1-13.33(chr22:16888899-51197838)x3	TUBA8, TUBGCP6 +435 more	Copy number gain	not provided	GPathogenic
Select item 634999	inv(22)(q12.2q12.2)	NEFH, PIK3IP1 +42 more	Inversion	Anaplastic ependymoma	GLikely pathogenic
Select item 598986	NM_001127.4(AP1B1):c.637G>A (p.Glu213Lys)	AP1B1 (E213K +1 more)	Single nucleotide variant (missense variant)	Sensory neuropathy +7 more	GUncertain significance
Select item 565055	GRCh37/hg19 22q11.22-12.3(chr22:22460754-35198232)x3	ADORA2A, AP1B1 +129 more	Copy number gain	not provided	GPathogenic
Select item 565022	GRCh37/hg19 22q12.2(chr22:29644625-31051719)x1	AP1B1, ASCC2 +32 more	Copy number loss	not provided	GPathogenic
Select item 442415	GRCh37/hg19 22q12.1-12.3(chr22:28349854-33013062)x3	DEPDC5, DRG1 +70 more	Copy number gain	See cases	GLikely pathogenic

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