ClinVar for Gene (Select 84133) - ClinVar

Links from Gene

Items: 99

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3247093	NC_000022.10:g.(?_29083885)_(30090791_?)del	AP1B1, C22orf31 +17 more	Deletion	Neurofibromatosis, type 2	GPathogenic
Select item 3238967	NM_001206998.2(ZNRF3):c.190del (p.Val64fs)	ZNRF3 (V64fs)	Deletion (frameshift variant)	ZNRF3-related disorder	GUncertain significance
Select item 3238966	NM_001206998.2(ZNRF3):c.1000C>T (p.Arg334Trp)	ZNRF3 (R234W +1 more)	Single nucleotide variant (missense variant)	ZNRF3-related disorder	GPathogenic
Select item 3238965	NM_001206998.2(ZNRF3):c.965C>G (p.Pro322Arg)	ZNRF3 (P222R +1 more)	Single nucleotide variant (missense variant)	ZNRF3-related disorder	GPathogenic
Select item 3238964	NM_001206998.2(ZNRF3):c.956G>A (p.Cys319Tyr)	ZNRF3 (C219Y +1 more)	Single nucleotide variant (missense variant)	ZNRF3-related disorder	GPathogenic
Select item 3238963	NM_001206998.2(ZNRF3):c.920G>A (p.Arg307Gln)	ZNRF3 (R207Q +1 more)	Single nucleotide variant (missense variant)	ZNRF3-related disorder	GPathogenic
Select item 3238962	NM_001206998.2(ZNRF3):c.887G>A (p.Cys296Tyr)	ZNRF3 (C196Y +1 more)	Single nucleotide variant (missense variant)	ZNRF3-related disorder	GPathogenic
Select item 3238961	NM_001206998.2(ZNRF3):c.878G>A (p.Cys293Tyr)	ZNRF3 (C193Y +1 more)	Single nucleotide variant (missense variant)	ZNRF3-related disorder	GPathogenic
Select item 3238960	NM_001206998.2(ZNRF3):c.536C>T (p.Pro179Leu)	ZNRF3 (P179L +1 more)	Single nucleotide variant (missense variant)	ZNRF3-related disorder	GPathogenic
Select item 3238959	NM_001206998.2(ZNRF3):c.1031del (p.Pro344fs)	ZNRF3 (P244fs +1 more)	Deletion (frameshift variant)	ZNRF3-related disorder	GUncertain significance
Select item 3238958	NM_001206998.2:c.301-10827_426+11057del	ZNRF3	Deletion	ZNRF3-related disorder	GUncertain significance
Select item 3238957	NM_001206998.2(ZNRF3):c.311T>C (p.Leu104Pro)	ZNRF3 (L104P +1 more)	Single nucleotide variant (missense variant)	ZNRF3-related disorder	GPathogenic
Select item 3199190	NM_001206998.2(ZNRF3):c.824G>A (p.Arg275Gln)	ZNRF3 (R275Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3199189	NM_001206998.2(ZNRF3):c.2692G>A (p.Gly898Ser)	ZNRF3 (G898S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3199188	NM_001206998.2(ZNRF3):c.2540A>G (p.Gln847Arg)	ZNRF3 (Q747R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3199187	NM_001206998.2(ZNRF3):c.2468G>A (p.Arg823Gln)	ZNRF3 (R723Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3199186	NM_001206998.2(ZNRF3):c.2408C>G (p.Ser803Trp)	ZNRF3 (S703W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3199185	NM_001206998.2(ZNRF3):c.2344T>C (p.Tyr782His)	ZNRF3 (Y782H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3199184	NM_001206998.2(ZNRF3):c.2248C>T (p.Pro750Ser)	ZNRF3 (P650S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3199182	NM_001206998.2(ZNRF3):c.1683C>A (p.His561Gln)	ZNRF3 (H461Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3199181	NM_001206998.2(ZNRF3):c.1672G>A (p.Gly558Ser)	ZNRF3 (G458S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3199180	NM_001206998.2(ZNRF3):c.1570G>A (p.Gly524Ser)	ZNRF3 (G424S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3199179	NM_001206998.2(ZNRF3):c.1543G>A (p.Val515Met)	ZNRF3 (V415M +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2672901	NM_001206998.2(ZNRF3):c.147G>T (p.Gly49=)	ZNRF3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2653040	NM_001206998.2(ZNRF3):c.1299C>T (p.Cys433=)	ZNRF3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2653039	NM_001206998.2(ZNRF3):c.69C>G (p.Pro23=)	ZNRF3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2621106	NM_001206998.2(ZNRF3):c.1781A>G (p.Tyr594Cys)	ZNRF3 (Y594C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2611261	NM_001206998.2(ZNRF3):c.785T>C (p.Met262Thr)	ZNRF3 (M262T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2557748	NM_001206998.2(ZNRF3):c.1450G>A (p.Gly484Arg)	ZNRF3 (G384R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2529404	NM_001206998.2(ZNRF3):c.2375G>A (p.Gly792Glu)	ZNRF3 (G792E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2510702	NM_001206998.2(ZNRF3):c.1507G>A (p.Gly503Ser)	ZNRF3 (G403S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2491175	NM_001206998.2(ZNRF3):c.1108G>A (p.Gly370Ser)	ZNRF3 (G270S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2465596	NM_001206998.2(ZNRF3):c.734G>A (p.Arg245Gln)	LOC121627938, ZNRF3 (R145Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2464276	NM_001206998.2(ZNRF3):c.679G>A (p.Val227Ile)	ZNRF3 (V127I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2462127	NM_001206998.2(ZNRF3):c.634C>A (p.Gln212Lys)	ZNRF3 (Q112K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2407350	NM_001206998.2(ZNRF3):c.995A>G (p.His332Arg)	ZNRF3 (H332R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2393437	NM_001206998.2(ZNRF3):c.2633G>A (p.Arg878Gln)	ZNRF3 (R778Q +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2379749	NM_001206998.2(ZNRF3):c.1904C>T (p.Ala635Val)	ZNRF3 (A535V +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2379400	NM_001206998.2(ZNRF3):c.2666G>A (p.Arg889Gln)	ZNRF3 (R789Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2375313	NM_001206998.2(ZNRF3):c.2489C>G (p.Pro830Arg)	ZNRF3 (P730R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2368082	NM_001206998.2(ZNRF3):c.2311G>A (p.Gly771Arg)	ZNRF3 (G671R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2367106	NM_001206998.2(ZNRF3):c.2801C>T (p.Pro934Leu)	ZNRF3 (P834L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2362875	NM_001206998.2(ZNRF3):c.2618C>G (p.Thr873Ser)	ZNRF3 (T773S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2362874	NM_001206998.2(ZNRF3):c.2198T>C (p.Leu733Ser)	ZNRF3 (L633S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2361694	NM_001206998.2(ZNRF3):c.2426C>T (p.Thr809Met)	ZNRF3 (T709M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2361330	NM_001206998.2(ZNRF3):c.2415T>A (p.Ser805Arg)	ZNRF3 (S705R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2357062	NM_001206998.2(ZNRF3):c.1446G>C (p.Gln482His)	ZNRF3 (Q382H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2355632	NM_001206998.2(ZNRF3):c.994C>G (p.His332Asp)	ZNRF3 (H232D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2355570	NM_001206998.2(ZNRF3):c.1901C>T (p.Pro634Leu)	ZNRF3 (P634L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2350149	NM_001206998.2(ZNRF3):c.2602A>G (p.Arg868Gly)	ZNRF3 (R768G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2349155	NM_001206998.2(ZNRF3):c.2080G>T (p.Ala694Ser)	ZNRF3 (A694S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2338569	NM_001206998.2(ZNRF3):c.1313G>A (p.Arg438Gln)	ZNRF3 (R338Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2335621	NM_001206998.2(ZNRF3):c.1288G>A (p.Ala430Thr)	ZNRF3 (A430T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2327960	NM_001206998.2(ZNRF3):c.2111G>T (p.Gly704Val)	ZNRF3 (G704V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2326588	NM_001206998.2(ZNRF3):c.2771C>T (p.Pro924Leu)	ZNRF3 (P824L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2317951	NM_001206998.2(ZNRF3):c.2701A>T (p.Arg901Trp)	ZNRF3 (R801W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2306658	NM_001206998.2(ZNRF3):c.830G>A (p.Gly277Glu)	ZNRF3 (G177E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2303893	NM_001206998.2(ZNRF3):c.1420T>C (p.Phe474Leu)	ZNRF3 (F374L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2291026	NM_001206998.2(ZNRF3):c.1798C>T (p.Arg600Cys)	ZNRF3 (R600C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2286131	NM_001206998.2(ZNRF3):c.2698G>A (p.Val900Ile)	ZNRF3 (V800I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2277242	NM_001206998.2(ZNRF3):c.1598A>G (p.His533Arg)	ZNRF3 (H533R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2275412	NM_001206998.2(ZNRF3):c.2159C>A (p.Pro720Gln)	ZNRF3 (P720Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2268558	NM_001206998.2(ZNRF3):c.964C>T (p.Pro322Ser)	ZNRF3 (P322S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2257744	NM_001206998.2(ZNRF3):c.1147A>G (p.Thr383Ala)	ZNRF3 (T283A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2256738	NM_001206998.2(ZNRF3):c.166A>G (p.Lys56Glu)	ZNRF3 (K56E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2243141	NM_001206998.2(ZNRF3):c.2501A>T (p.Glu834Val)	ZNRF3 (E734V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2232661	NM_001206998.2(ZNRF3):c.1844G>C (p.Ser615Thr)	ZNRF3 (S515T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2219618	NM_001206998.2(ZNRF3):c.1411C>T (p.His471Tyr)	ZNRF3 (H371Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2210914	NM_001206998.2(ZNRF3):c.1882C>T (p.Pro628Ser)	ZNRF3 (P528S +1 more)	Single nucleotide variant (missense variant)	not specified	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 1466555	NC_000022.10:g.(?_29083885)_(34046674_?)dup	KREMEN1, NEFH +71 more	Duplication	not provided	GUncertain significance
Select item 1076756	NC_000022.10:g.(?_29105984)_(30337586_?)del	AP1B1, ASCC2 +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 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 979601	GRCh37/hg19 22q12.1(chr22:29321838-29448145)x1	ZNRF3	Copy number loss	not provided	GUncertain significance
Select item 832675	NC_000022.10:g.(?_29083875)_(30090801_?)del	ZNRF3, CCDC117 +17 more	Deletion	Familial cancer of breast	GPathogenic
Select item 832563	NC_000022.10:g.(?_29083885)_(29621477_?)del	CCDC117, CHEK2 +6 more	Deletion	Familial cancer of breast	GPathogenic
Select item 773618	NM_001206998.2(ZNRF3):c.2232C>T (p.Gly744=)	ZNRF3	Single nucleotide variant (synonymous variant)	not provided	GBenign
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 565055	GRCh37/hg19 22q11.22-12.3(chr22:22460754-35198232)x3	ADORA2A, AP1B1 +129 more	Copy number gain	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
Select item 441826	GRCh37/hg19 22q11.23-12.3(chr22:23637907-36614412)x3	ADORA2A, AP1B1 +131 more	Copy number gain	See cases	GPathogenic
Select item 441654	GRCh37/hg19 22q11.1-13.33(chr22:16888900-51197838)	ANKRD54, AP1B1 +435 more	Copy number gain	See cases	GPathogenic
Select item 441653	GRCh37/hg19 22q11.1-13.33(chr22:16888900-51197838)x3	NEFH, NF2 +435 more	Copy number gain	See cases	GPathogenic
Select item 395140	GRCh37/hg19 22q11.1-13.33(chr22:16054691-51237463)x3	ZNF280A, ZNF280B +438 more	Copy number gain	See cases	GPathogenic
Select item 394709	GRCh37/hg19 22q11.1-13.33(chr22:16054691-51220902)x3	SMARCB1, SMC1B +438 more	Copy number gain	See cases	GPathogenic
Select item 253509	GRCh37/hg19 22q11.1-13.33(chr22:16054691-51237518)x3	A4GALT, ACO2 +438 more	Copy number gain	See cases	GPathogenic
Select item 155348	GRCh38/hg38 22q12.1-12.2(chr22:26451042-31451926)x1	AP1B1, ASCC2 +260 more	Copy number loss	See cases	GPathogenic
Select item 149114	GRCh38/hg38 22q11.23-12.3(chr22:23279231-36247369)x3	LOC130067187, LOC130067188 +556 more	Copy number gain	See cases	GPathogenic
Select item 148861	GRCh38/hg38 22q11.21-12.3(chr22:20907226-37187347)x3	ADORA2A, ADORA2A-AS1 +823 more	Copy number gain	See cases	GPathogenic
Select item 145336	GRCh38/hg38 22q11.1-13.33(chr22:16916743-50739785)x3	LOC130067403, LOC130067404 +2088 more	Copy number gain	See cases	GPathogenic
Select item 144164	GRCh38/hg38 22q11.1-13.33(chr22:16916608-50739836)x3	IL17RA, LINC01640 +2088 more	Copy number gain	See cases	GPathogenic
Select item 59075	GRCh38/hg38 22q12.1-12.2(chr22:28856144-29506277)x1	AP1B1, C22orf31 +34 more	Copy number loss	See cases	GPathogenic
Select item 59074	GRCh38/hg38 22q12.1-12.2(chr22:28441035-30276511)x1	AP1B1, ASCC2 +89 more	Copy number loss	See cases	GPathogenic
Select item 59072	GRCh38/hg38 22q12.1-12.2(chr22:26221273-29477543)x1	AP1B1, ASPHD2 +122 more	Copy number loss	See cases	GPathogenic
Select item 59056	GRCh38/hg38 22q12.1(chr22:27557778-28988149)x3	CCDC117, CHEK2 +32 more	Copy number gain	See cases	GUncertain significance
Select item 57132	GRCh38/hg38 22q11.21-12.3(chr22:18178957-31821193)x3	ADORA2A, ADORA2A-AS1 +798 more	Copy number gain	See cases	GPathogenic
Select item 57002	GRCh38/hg38 22q12.1-12.3(chr22:26979579-33992220)x3	AP1B1, ASCC2 +307 more	Copy number gain	See cases	GPathogenic

ClinVar

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Links from Gene

Items: 99