4771[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144164	GRCh38/hg38 22q11.1-13.33(chr22:16916608-50739836)x3	A4GALT, ACO2 +2088 more	Copy number gain	See cases	GPathogenic
Select item 145336	GRCh38/hg38 22q11.1-13.33(chr22:16916743-50739785)x3	LOC126863153, LOC126863154 +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	LOC130067137, LOC130067138 +823 more	Copy number gain	See cases	GPathogenic
Select item 149114	GRCh38/hg38 22q11.23-12.3(chr22:23279231-36247369)x3	LOC130067246, LOC130067247 +556 more	Copy number gain	See cases	GPathogenic
Select item 155348	GRCh38/hg38 22q12.1-12.2(chr22:26451042-31451926)x1	LOC130067166, LOC130067167 +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 57489	GRCh38/hg38 22q12.2(chr22:29281920-29878399)x3	RASL10A, RFPL1 +28 more	Copy number gain	See cases	GUncertain significance
Select item 967709	NM_000268.3(NF2):c.-3677_4del	LOC130067183, LOC130067184 +1 more	Deletion (genic upstream transcript variant)	Neurofibromatosis, type 2	GPathogenic
Select item 1691507	NC_000022.11:g.29602212_29610711del	LOC130067183, LOC130067184 +1 more	Deletion (genic upstream transcript variant)	Neurofibromatosis, type 2	GPathogenic
Select item 148402	GRCh38/hg38 22q12.2(chr22:29602475-29639153)x1	LOC130067183, LOC130067184 +1 more	Copy number loss	See cases	GPathogenic
Select item 683799	NM_000268.3(NF2):c.-752G>C	NF2	Single nucleotide variant	not provided	GBenign
Select item 1282056	NC_000022.11:g.29603361dup	NF2	Duplication	not provided	GBenign
Select item 1265938	NC_000022.11:g.29603361del	NF2	Deletion	not provided	GBenign
Select item 1212818	NC_000022.11:g.29603369G>C	NF2	Single nucleotide variant	not provided	GLikely benign
Select item 674066	NM_000268.3(NF2):c.-575A>C	LOC130067184, NF2	Single nucleotide variant	not provided	GLikely benign
Select item 341058	NM_016418.5(NF2):c.-402A>G	LOC130067184, NF2	Single nucleotide variant (5 prime UTR variant)	Neurofibromatosis, type 2	GUncertain significance
Select item 341059	NM_016418.5(NF2):c.-397C>T	LOC130067184, NF2	Single nucleotide variant (5 prime UTR variant)	Neurofibromatosis, type 2	GUncertain significance
Select item 341060	NM_000268.4(NF2):c.-320C>T	LOC130067184, NF2	Single nucleotide variant (5 prime UTR variant +1 more)	Neurofibromatosis, type 2	GUncertain significance
Select item 341061	NM_000268.4(NF2):c.-284C>A	LOC130067184, NF2	Single nucleotide variant (5 prime UTR variant +1 more)	Neurofibromatosis, type 2	GUncertain significance
Select item 341062	NM_000268.4(NF2):c.-268G>T	LOC130067184, NF2	Single nucleotide variant (5 prime UTR variant +1 more)	Neurofibromatosis, type 2	GUncertain significance
Select item 341063	NM_000268.4(NF2):c.-246C>G	LOC130067184, NF2	Single nucleotide variant (5 prime UTR variant +1 more)	Neurofibromatosis, type 2	GBenign
Select item 341064	NM_000268.4(NF2):c.-245C>G	LOC130067184, NF2	Single nucleotide variant (5 prime UTR variant +1 more)	Neurofibromatosis, type 2	GBenign
Select item 341065	NM_000268.4(NF2):c.-204C>A	LOC130067184, NF2	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GBenign
Select item 901363	NM_000268.4(NF2):c.-163C>T	LOC130067184, NF2	Single nucleotide variant (5 prime UTR variant +1 more)	Neurofibromatosis, type 2	GUncertain significance
Select item 584996	NM_000268.4(NF2):c.-142del	LOC130067184, NF2	Deletion (5 prime UTR variant +1 more)	Neurofibromatosis, type 2	GUncertain significance
Select item 341066	NM_000268.4(NF2):c.-110G>C	LOC130067184, NF2	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GBenign
Select item 2704605	NM_000268.4(NF2):c.-60del	LOC130067184, NF2	Deletion (5 prime UTR variant +1 more)	Neurofibromatosis, type 2	GUncertain significance
Select item 262991	NM_000268.4(NF2):c.-18G>A	NF2	Single nucleotide variant (5 prime UTR variant +1 more)	not specified +1 more	GBenign/Likely benign
Select item 661747	NC_000022.11:g.(?_29603989)_(29604122_?)del	NF2	Deletion	Neurofibromatosis, type 2	GPathogenic
Select item 640993	NC_000022.11:g.(?_29603989)_(29681611_?)del	NF2	Deletion	Neurofibromatosis, type 2	GPathogenic
Select item 527727	NC_000022.10:g.(?_29999982)_(30000107_?)dup	NF2	Duplication	Neurofibromatosis, type 2	GUncertain significance
Select item 2453837	NM_000268.4(NF2):c.-5G>A	NF2	Single nucleotide variant (5 prime UTR variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 2447480	NM_000268.4(NF2):c.-5G>T	NF2	Single nucleotide variant (5 prime UTR variant +1 more)	Neurofibromatosis, type 2 +1 more	GUncertain significance
Select item 1736918	NM_000268.4(NF2):c.-4_-3delinsAA	NF2	Indel (5 prime UTR variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 566704	NM_000268.4(NF2):c.3_14del (p.Met1_Ala4del)	NF2	Deletion (inframe_deletion +2 more)	Neurofibromatosis, type 2	GUncertain significance
Select item 1784201	NM_000268.4(NF2):c.-1C>T	NF2	Single nucleotide variant (5 prime UTR variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 956856	NM_000268.4(NF2):c.1A>G (p.Met1Val)	NF2 (M1V)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 504454	NM_000268.4(NF2):c.2T>C (p.Met1Thr)	NF2 (M1T)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2453816	NM_000268.4(NF2):c.3G>A (p.Met1Ile)	NF2 (M1I)	Single nucleotide variant (missense variant +3 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 638486	NM_000268.4(NF2):c.4G>T (p.Ala2Ser)	NF2 (A2S)	Single nucleotide variant (missense variant +1 more)	Familial meningioma +2 more	GUncertain significance
Select item 1085863	NM_000268.4(NF2):c.6C>T (p.Ala2=)	NF2	Single nucleotide variant (synonymous variant +1 more)	Neurofibromatosis, type 2	GLikely benign
Select item 2677252	NM_000268.4(NF2):c.7G>C (p.Gly3Arg)	NF2 (G3R)	Single nucleotide variant (missense variant +2 more)	Familial meningioma +1 more	GUncertain significance
Select item 962511	NM_000268.4(NF2):c.10del (p.Ala4fs)	NF2 (A4fs)	Deletion (frameshift variant +1 more)	Neurofibromatosis, type 2	GPathogenic
Select item 1554482	NM_000268.4(NF2):c.9G>C (p.Gly3=)	NF2	Single nucleotide variant (synonymous variant +1 more)	Neurofibromatosis, type 2 +1 more	GLikely benign
Select item 1118453	NM_000268.4(NF2):c.9G>A (p.Gly3=)	NF2	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GLikely benign
Select item 3231069	NM_000268.4(NF2):c.10G>C (p.Ala4Pro)	NF2 (A4P)	Single nucleotide variant (5 prime UTR variant +2 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1408684	NM_000268.4(NF2):c.10G>T (p.Ala4Ser)	NF2 (A4S)	Single nucleotide variant (missense variant +1 more)	Neurofibromatosis, type 2 +1 more	GUncertain significance
Select item 2568067	NM_000268.4(NF2):c.12_22delinsTTCA (p.Ile5fs)	NF2 (I5fs)	Indel (frameshift variant +2 more)	Hereditary cancer-predisposing syndrome	GLikely pathogenic
Select item 968053	NM_000268.4(NF2):c.12_13inv (p.Ile5Val)	NF2 (I5V)	Inversion (missense variant +1 more)	Neurofibromatosis, type 2	GUncertain significance
Select item 237616	NM_000268.4(NF2):c.12C>T (p.Ala4=)	NF2	Single nucleotide variant (synonymous variant +1 more)	Neurofibromatosis, type 2 +3 more	GBenign/Likely benign
Select item 2822125	NM_000268.4(NF2):c.14_15insG (p.Ile5fs)	NF2 (I5fs)	Insertion (frameshift variant +2 more)	Neurofibromatosis, type 2	GPathogenic
Select item 643742	NM_000268.4(NF2):c.15C>G (p.Ile5Met)	NF2 (I5M)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 2692679	NM_000268.4(NF2):c.16_17delinsTT (p.Ala6Phe)	NF2 (A6F)	Indel (5 prime UTR variant +2 more)	Neurofibromatosis, type 2	GUncertain significance
Select item 2453839	NM_000268.4(NF2):c.16G>A (p.Ala6Thr)	NF2 (A6T)	Single nucleotide variant (missense variant +2 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 819873	NM_000268.4(NF2):c.16G>C (p.Ala6Pro)	NF2 (A6P)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 950781	NM_000268.4(NF2):c.17C>A (p.Ala6Asp)	NF2 (A6D)	Single nucleotide variant (missense variant +1 more)	Neurofibromatosis, type 2	GUncertain significance
Select item 1692362	NM_000268.4(NF2):c.20C>T (p.Ser7Phe)	NF2 (S7F)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1787595	NM_000268.4(NF2):c.21C>T (p.Ser7=)	NF2	Single nucleotide variant (synonymous variant +2 more)	Hereditary cancer-predisposing syndrome +1 more	GLikely benign
Select item 2278982	NM_000268.4(NF2):c.22C>G (p.Arg8Gly)	NF2 (R8G)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1789255	NM_000268.4(NF2):c.22C>A (p.Arg8Ser)	NF2 (R8S)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GConflicting classifications of pathogenicity
Select item 1787623	NM_000268.4(NF2):c.22_23delinsAA (p.Arg8Asn)	NF2 (R8N)	Indel (missense variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 1036118	NM_000268.4(NF2):c.22C>T (p.Arg8Cys)	NF2 (R8C)	Single nucleotide variant (missense variant +1 more)	Neurofibromatosis, type 2	GUncertain significance
Select item 1790716	NM_000268.4(NF2):c.23G>A (p.Arg8His)	NF2 (R8H)	Single nucleotide variant (missense variant +1 more)	Neurofibromatosis, type 2 +1 more	GUncertain significance
Select item 1475296	NM_000268.4(NF2):c.23G>T (p.Arg8Leu)	NF2 (R8L)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 1444710	NM_000268.4(NF2):c.23G>C (p.Arg8Pro)	NF2 (R8P)	Single nucleotide variant (missense variant +1 more)	Neurofibromatosis, type 2	GUncertain significance
Select item 821551	NM_000268.4(NF2):c.25A>G (p.Met9Val)	NF2 (M9V)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 3231094	NM_000268.4(NF2):c.26T>A (p.Met9Lys)	NF2 (M9K)	Single nucleotide variant (missense variant +2 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 2915551	NM_000268.4(NF2):c.26T>C (p.Met9Thr)	NF2 (M9T)	Single nucleotide variant (missense variant +2 more)	Neurofibromatosis, type 2	GUncertain significance
Select item 818007	NM_000268.4(NF2):c.30del (p.Phe11fs)	NF2 (F11fs)	Deletion (frameshift variant +1 more)	not provided	GPathogenic
Select item 1034701	NM_000268.4(NF2):c.32T>G (p.Phe11Cys)	NF2 (F11C)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 3231096	NM_000268.4(NF2):c.34A>C (p.Ser12Arg)	NF2 (S12R)	Single nucleotide variant (missense variant +2 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 2677250	NM_000268.4(NF2):c.35G>C (p.Ser12Thr)	NF2 (S12T)	Single nucleotide variant (missense variant +2 more)	Familial meningioma	GUncertain significance
Select item 1157795	NM_000268.4(NF2):c.36C>T (p.Ser12=)	NF2	Single nucleotide variant (synonymous variant +1 more)	Neurofibromatosis, type 2 +2 more	GConflicting classifications of pathogenicity
Select item 870693	NM_000268.4(NF2):c.41_42del (p.Leu14fs)	NF2 (L14fs)	Microsatellite (frameshift variant +1 more)	not provided +1 more	GPathogenic
Select item 2453842	NM_000268.4(NF2):c.41T>C (p.Leu14Pro)	NF2 (L14P)	Single nucleotide variant (missense variant +2 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 2799121	NM_000268.4(NF2):c.42C>G (p.Leu14=)	NF2	Single nucleotide variant (synonymous variant +2 more)	Neurofibromatosis, type 2	GLikely benign
Select item 2587709	NM_000268.4(NF2):c.43A>C (p.Lys15Gln)	NF2 (K15Q)	Single nucleotide variant (missense variant +2 more)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 1930628	NM_000268.4(NF2):c.43A>G (p.Lys15Glu)	NF2 (K15E)	Single nucleotide variant (missense variant +1 more)	Neurofibromatosis, type 2	GUncertain significance
Select item 492891	NM_000268.4(NF2):c.43A>T (p.Lys15Ter)	NF2 (K15*)	Single nucleotide variant (nonsense +1 more)	Neurofibromatosis, type 2	GPathogenic
Select item 3231098	NM_000268.4(NF2):c.45G>A (p.Lys15=)	NF2	Single nucleotide variant (synonymous variant +2 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 457918	NM_000268.4(NF2):c.48G>A (p.Arg16=)	NF2	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GLikely benign
Select item 2045796	NM_000268.4(NF2):c.49A>G (p.Lys17Glu)	NF2 (K17E)	Single nucleotide variant (missense variant +1 more)	Neurofibromatosis, type 2	GUncertain significance
Select item 1466141	NM_000268.4(NF2):c.49A>C (p.Lys17Gln)	NF2 (K17Q)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 1056444	NM_000268.4(NF2):c.50A>G (p.Lys17Arg)	NF2 (K17R)	Single nucleotide variant (missense variant +1 more)	Neurofibromatosis, type 2 +1 more	GUncertain significance
Select item 1484088	NM_000268.4(NF2):c.55C>T (p.Pro19Ser)	NF2 (P19S)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 825907	NM_000268.4(NF2):c.56C>G (p.Pro19Arg)	NF2 (P19R)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 3074912	NM_000268.4(NF2):c.57C>T (p.Pro19=)	NF2	Single nucleotide variant (synonymous variant +2 more)	Neurofibromatosis, type 2 +1 more	GLikely benign
Select item 1078598	NM_000268.4(NF2):c.57C>G (p.Pro19=)	NF2	Single nucleotide variant (synonymous variant +1 more)	Neurofibromatosis, type 2	GLikely benign
Select item 938925	NM_000268.4(NF2):c.58A>T (p.Lys20Ter)	NF2 (K20*)	Single nucleotide variant (nonsense +1 more)	Neurofibromatosis, type 2	GPathogenic
Select item 838853	NM_000268.4(NF2):c.58A>C (p.Lys20Gln)	NF2 (K20Q)	Single nucleotide variant (missense variant +1 more)	Neurofibromatosis, type 2	GUncertain significance
Select item 547703	NM_000268.4(NF2):c.58_61delinsGT (p.Lys20fs)	NF2 (K20fs)	Indel (frameshift variant +1 more)	Neurofibromatosis, type 2	GLikely pathogenic
Select item 2568050	NM_000268.4(NF2):c.59A>C (p.Lys20Thr)	NF2 (K20T)	Single nucleotide variant (missense variant +2 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 2061005	NM_000268.4(NF2):c.61A>G (p.Thr21Ala)	NF2 (T21A)	Single nucleotide variant (missense variant +1 more)	Neurofibromatosis, type 2 +1 more	GUncertain significance
Select item 2721765	NM_000268.4(NF2):c.63G>A (p.Thr21=)	NF2	Single nucleotide variant (synonymous variant +2 more)	Neurofibromatosis, type 2	GLikely benign
Select item 1753332	NM_000268.4(NF2):c.63G>T (p.Thr21=)	NF2	Single nucleotide variant (synonymous variant +2 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 2766347	NM_000268.4(NF2):c.67A>G (p.Thr23Ala)	NF2 (T23A)	Single nucleotide variant (missense variant +2 more)	Neurofibromatosis, type 2	GUncertain significance
Select item 1035608	NM_000268.4(NF2):c.67A>C (p.Thr23Pro)	NF2 (T23P)	Single nucleotide variant (missense variant +1 more)	Neurofibromatosis, type 2	GUncertain significance
Select item 644553	NM_000268.4(NF2):c.69dup (p.Val24fs)	NF2 (V24fs)	Duplication (frameshift variant +1 more)	Neurofibromatosis, type 2	GPathogenic

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