17550[HGNC] - ClinVar

Search results

Items: 93

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 145336	GRCh38/hg38 22q11.1-13.33(chr22:16916743-50739785)x3	LOC130067403, LOC130067404 +2088 more	Copy number gain	See cases	GPathogenic
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 148861	GRCh38/hg38 22q11.21-12.3(chr22:20907226-37187347)x3	ADORA2A, ADORA2A-AS1 +823 more	Copy number gain	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 59072	GRCh38/hg38 22q12.1-12.2(chr22:26221273-29477543)x1	AP1B1, ASPHD2 +122 more	Copy number loss	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 57002	GRCh38/hg38 22q12.1-12.3(chr22:26979579-33992220)x3	AP1B1, ASCC2 +307 more	Copy number gain	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 59075	GRCh38/hg38 22q12.1-12.2(chr22:28856144-29506277)x1	AP1B1, C22orf31 +34 more	Copy number loss	See cases	GPathogenic
Select item 2576945	NM_001039570.3(KREMEN1):c.-4del	C22orf31, KREMEN1	Deletion (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1666871	NM_001039570.3(KREMEN1):c.12A>C (p.Pro4=)	C22orf31, KREMEN1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 3116256	NM_001039570.3(KREMEN1):c.41C>T (p.Ala14Val)	C22orf31, KREMEN1 (A14V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1559554	NM_001039570.3(KREMEN1):c.97+12C>T	KREMEN1, C22orf31	Single nucleotide variant (intron variant)	Ectodermal dysplasia 13, hair/tooth type +1 more	GBenign/Likely benign
Select item 2663902	NM_001039570.3(KREMEN1):c.121G>C (p.Asp41His)	KREMEN1 (D41H)	Single nucleotide variant (missense variant)	Ectodermal dysplasia 13, hair/tooth type	GUncertain significance
Select item 2615463	NM_001039570.3(KREMEN1):c.141C>A (p.Asn47Lys)	KREMEN1 (N47K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2370496	NM_001039570.3(KREMEN1):c.166C>A (p.Pro56Thr)	KREMEN1 (P56T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3116254	NM_001039570.3(KREMEN1):c.202T>C (p.Tyr68His)	KREMEN1 (Y68H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 734221	NM_001039570.3(KREMEN1):c.233G>C (p.Gly78Ala)	KREMEN1 (G78A)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2260241	NM_001039570.3(KREMEN1):c.277G>A (p.Val93Met)	KREMEN1 (V93M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2589802	NM_001039570.3(KREMEN1):c.307G>A (p.Glu103Lys)	KREMEN1 (E103K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2764778	NM_001039570.3(KREMEN1):c.314G>C (p.Gly105Ala)	KREMEN1 (G105A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3289288	NM_001039570.3(KREMEN1):c.344C>G (p.Ala115Gly)	KREMEN1 (A115G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2116375	NM_001039570.3(KREMEN1):c.353-1G>C	KREMEN1	Single nucleotide variant (splice acceptor variant)	not provided	GUncertain significance
Select item 2310909	NM_001039570.3(KREMEN1):c.357del (p.Gly120fs)	KREMEN1 (G120fs)	Deletion (frameshift variant)	Inborn genetic diseases	GPathogenic
Select item 2691777	NM_001039570.3(KREMEN1):c.460C>T (p.Arg154Trp)	KREMEN1 (R154W)	Single nucleotide variant (missense variant)	Ectodermal dysplasia 13, hair/tooth type	GUncertain significance
Select item 2311905	NM_001039570.3(KREMEN1):c.461G>A (p.Arg154Gln)	KREMEN1 (R154Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1603774	NM_001039570.3(KREMEN1):c.471G>T (p.Arg157Ser)	KREMEN1 (R157S)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 790773	NM_001039570.3(KREMEN1):c.519C>T (p.Asn173=)	KREMEN1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3289284	NM_001039570.3(KREMEN1):c.571G>A (p.Val191Ile)	KREMEN1 (V191I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 393469	NM_001039570.3(KREMEN1):c.626T>C (p.Phe209Ser)	KREMEN1 (F209S)	Single nucleotide variant (missense variant)	Ectodermal dysplasia 13, hair/tooth type	GPathogenic
Select item 2914495	NM_001039570.3(KREMEN1):c.631+7A>T	KREMEN1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 757154	NM_001039570.3(KREMEN1):c.648C>T (p.Cys216=)	KREMEN1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3289287	NM_001039570.3(KREMEN1):c.665C>T (p.Ala222Val)	KREMEN1 (A222V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 756769	NM_001039570.3(KREMEN1):c.699C>T (p.Pro233=)	KREMEN1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 712873	NM_001039570.3(KREMEN1):c.739C>T (p.Arg247Trp)	KREMEN1 (R247W)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2180156	NM_001039570.3(KREMEN1):c.747G>A (p.Pro249=)	KREMEN1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2236177	NM_001039570.3(KREMEN1):c.791G>A (p.Arg264Lys)	KREMEN1 (R264K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2361844	NM_001039570.3(KREMEN1):c.797C>T (p.Ser266Leu)	KREMEN1 (S266L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1642302	NM_001039570.3(KREMEN1):c.801G>A (p.Ala267=)	KREMEN1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2537053	NM_001039570.3(KREMEN1):c.830C>T (p.Thr277Ile)	KREMEN1 (T277I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2047685	NM_001039570.3(KREMEN1):c.838G>A (p.Val280Ile)	KREMEN1 (V280I)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 769478	NM_001039570.3(KREMEN1):c.855C>T (p.His285=)	KREMEN1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1601570	NM_001039570.3(KREMEN1):c.874C>G (p.Leu292Val)	KREMEN1 (L292V)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2052205	NM_001039570.3(KREMEN1):c.904A>G (p.Ile302Val)	KREMEN1 (I302V)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2394803	NM_001039570.3(KREMEN1):c.923A>T (p.Asp308Val)	KREMEN1 (D308V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3289282	NM_001039570.3(KREMEN1):c.926G>A (p.Arg309His)	KREMEN1 (R309H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3038085	NM_001039570.3(KREMEN1):c.936G>A (p.Gln312=)	KREMEN1	Single nucleotide variant (synonymous variant)	KREMEN1-related disorder	GLikely benign
Select item 2171185	NM_001039570.3(KREMEN1):c.965-4C>A	KREMEN1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 708275	NM_001039570.3(KREMEN1):c.974A>G (p.Glu325Gly)	KREMEN1 (E325G)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 736102	NM_001039570.3(KREMEN1):c.988G>A (p.Glu330Lys)	KREMEN1 (E330K)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2331523	NM_001039570.3(KREMEN1):c.1000G>A (p.Val334Ile)	KREMEN1 (V334I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2595511	NM_001039570.3(KREMEN1):c.1010C>T (p.Thr337Met)	KREMEN1 (T337M)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2735051	NM_001039570.3(KREMEN1):c.1012G>T (p.Val338Leu)	KREMEN1 (V338L)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 708276	NM_001039570.3(KREMEN1):c.1017C>T (p.Ala339=)	KREMEN1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3289283	NM_001039570.3(KREMEN1):c.1018G>A (p.Glu340Lys)	KREMEN1 (E340K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2079536	NM_001039570.3(KREMEN1):c.1054G>A (p.Ala352Thr)	KREMEN1 (A352T)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2249236	NM_001039570.3(KREMEN1):c.1060C>T (p.Arg354Trp)	KREMEN1 (R354W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2304878	NM_001039570.3(KREMEN1):c.1066T>G (p.Ser356Ala)	KREMEN1 (S356A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1702735	NM_001039570.3(KREMEN1):c.1098del (p.Ser367fs)	KREMEN1 (S367fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 2020047	NM_001039570.3(KREMEN1):c.1102C>T (p.His368Tyr)	KREMEN1 (H368Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3289286	NM_001039570.3(KREMEN1):c.1123+1G>T	KREMEN1 (G375V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1987399	NM_001039570.3(KREMEN1):c.1123+62T>C	KREMEN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 777680	NM_001039570.3(KREMEN1):c.1197C>T (p.His399=)	KREMEN1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2272157	NM_001039570.3(KREMEN1):c.1211C>T (p.Ser404Phe)	KREMEN1 (S404F +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2385336	NM_001039570.3(KREMEN1):c.1214A>G (p.His405Arg)	KREMEN1 (H422R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 734222	NM_001039570.3(KREMEN1):c.1217G>A (p.Arg406His)	KREMEN1 (R406H +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2258301	NM_001039570.3(KREMEN1):c.1241G>A (p.Arg414Lys)	KREMEN1 (R431K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 708277	NM_001039570.3(KREMEN1):c.1242G>A (p.Arg414=)	KREMEN1	Single nucleotide variant (synonymous variant)	Ectodermal dysplasia 13, hair/tooth type +1 more	GBenign
Select item 2250121	NM_001039570.3(KREMEN1):c.1265C>T (p.Ser422Leu)	KREMEN1 (S439L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 779479	NM_001039570.3(KREMEN1):c.1266G>A (p.Ser422=)	KREMEN1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2663904	NM_001039570.3(KREMEN1):c.1351G>A (p.Asp451Asn)	KREMEN1 (D451N +1 more)	Single nucleotide variant (missense variant)	Ectodermal dysplasia 13, hair/tooth type	GUncertain significance
Select item 2404604	NM_001039570.3(KREMEN1):c.1354C>T (p.Arg452Cys)	KREMEN1 (R452C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3289285	NM_001039570.3(KREMEN1):c.1355G>A (p.Arg452His)	KREMEN1 (R452H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2343383	NM_032045.5(KREMEN1):c.1459G>A (p.Gly487Arg)	KREMEN1 (G487R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3247093	NC_000022.10:g.(?_29083885)_(30090791_?)del	AP1B1, C22orf31 +17 more	Deletion	Neurofibromatosis, type 2	GPathogenic
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	AP1B1, ASCC2 +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	AP1B1, ASCC2 +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 832675	NC_000022.10:g.(?_29083875)_(30090801_?)del	AP1B1, C22orf31 +17 more	Deletion	Familial cancer of breast	GPathogenic
Select item 832563	NC_000022.10:g.(?_29083885)_(29621477_?)del	C22orf31, CCDC117 +6 more	Deletion	Familial cancer of breast	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 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

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Items: 93