ASCC2[gene] - ClinVar

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Items: 79

	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 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 57489	GRCh38/hg38 22q12.2(chr22:29281920-29878399)x3	AP1B1, ASCC2 +28 more	Copy number gain	See cases	GUncertain significance
Select item 3130237	NM_032204.5(ASCC2):c.2225G>A (p.Arg742Gln)	ASCC2 (R506Q +12 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3130236	NM_032204.5(ASCC2):c.2204C>T (p.Ala735Val)	ASCC2 (A687V +12 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2372504	NM_032204.5(ASCC2):c.2177A>G (p.Glu726Gly)	ASCC2 (E490G +12 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3130235	NM_032204.5(ASCC2):c.2162G>A (p.Arg721His)	ASCC2 (R483H +12 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2274496	NM_032204.5(ASCC2):c.2144G>A (p.Arg715Gln)	ASCC2 (R479Q +12 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2243632	NM_032204.5(ASCC2):c.2078G>A (p.Arg693His)	ASCC2 (R617H +12 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3130234	NM_032204.5(ASCC2):c.2020A>C (p.Lys674Gln)	ASCC2 (K496Q +10 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3130233	NM_032204.5(ASCC2):c.2008G>A (p.Glu670Lys)	ASCC2 (E432K +10 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2280897	NM_032204.5(ASCC2):c.1928C>T (p.Thr643Ile)	ASCC2 (T407I +10 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2216447	NM_032204.5(ASCC2):c.1916G>T (p.Arg639Leu)	ASCC2 (R563L +10 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3130231	NM_032204.5(ASCC2):c.1915C>A (p.Arg639Ser)	ASCC2 (R401S +10 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2337118	NM_032204.5(ASCC2):c.1909A>T (p.Ile637Phe)	ASCC2 (I559F +10 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2588861	NM_032204.5(ASCC2):c.1873G>A (p.Val625Met)	ASCC2 (V389M +10 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3130230	NM_032204.5(ASCC2):c.1812C>G (p.Ser604Arg)	ASCC2 (S368R +10 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3130229	NM_032204.5(ASCC2):c.1757G>T (p.Arg586Leu)	ASCC2 (R472L +7 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2385304	NM_032204.5(ASCC2):c.1730A>G (p.Lys577Arg)	ASCC2 (K499R +7 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3130228	NM_032204.5(ASCC2):c.1685A>G (p.Lys562Arg)	ASCC2 (K326R +6 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3130227	NM_032204.5(ASCC2):c.1669C>T (p.Arg557Trp)	ASCC2 (R479W +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2588612	NM_032204.5(ASCC2):c.1585C>T (p.Pro529Ser)	ASCC2 (P351S +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2367831	NM_032204.5(ASCC2):c.1559A>G (p.Asn520Ser)	ASCC2 (N284S +6 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2373873	NM_032204.5(ASCC2):c.1556G>A (p.Arg519His)	ASCC2 (R283H +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3130226	NM_032204.5(ASCC2):c.1554C>A (p.Asp518Glu)	ASCC2 (D340E +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2362969	NM_032204.5(ASCC2):c.1525C>T (p.Arg509Trp)	ASCC2 (R456W +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3130224	NM_032204.5(ASCC2):c.1487A>G (p.Tyr496Cys)	ASCC2 (Y260C +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3130223	NM_032204.5(ASCC2):c.1441G>T (p.Asp481Tyr)	ASCC2 (D481Y +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3130222	NM_032204.5(ASCC2):c.1389G>A (p.Met463Ile)	ASCC2 (M385I +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3130221	NM_032204.5(ASCC2):c.1337A>T (p.Asn446Ile)	ASCC2 (N210I +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2532825	NM_032204.5(ASCC2):c.1334A>G (p.Glu445Gly)	ASCC2 (E267G +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2346188	NM_032204.5(ASCC2):c.1292C>T (p.Thr431Met)	ASCC2 (T317M +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2334801	NM_032204.5(ASCC2):c.1261G>A (p.Glu421Lys)	ASCC2 (E307K +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2485284	NM_032204.5(ASCC2):c.1220A>C (p.Asp407Ala)	ASCC2 (D229A +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3130220	NM_032204.5(ASCC2):c.1216G>A (p.Val406Met)	ASCC2 (V292M +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3130219	NM_032204.5(ASCC2):c.1132A>T (p.Ser378Cys)	ASCC2 (S302C +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3130218	NM_032204.5(ASCC2):c.1132A>G (p.Ser378Gly)	ASCC2 (S264G +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3317733	NM_032204.5(ASCC2):c.1108C>T (p.Leu370Phe)	ASCC2 (L256F +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2529588	NM_032204.5(ASCC2):c.1073T>C (p.Leu358Pro)	ASCC2 (L282P +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2207193	NM_032204.5(ASCC2):c.1042G>A (p.Glu348Lys)	ASCC2 (E348K +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3130240	NM_032204.5(ASCC2):c.917G>T (p.Gly306Val)	ASCC2 (G230V +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2543199	NM_032204.5(ASCC2):c.865G>A (p.Glu289Lys)	ASCC2 (E175K +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2494203	NM_032204.5(ASCC2):c.745C>G (p.Leu249Val)	ASCC2 (L135V +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3130239	NM_032204.5(ASCC2):c.739C>G (p.Leu247Val)	ASCC2 (L171V +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2268675	NM_032204.5(ASCC2):c.729G>C (p.Lys243Asn)	ASCC2 (K129N +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3130238	NM_032204.5(ASCC2):c.707A>G (p.Asp236Gly)	ASCC2 (D183G +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2518318	NM_032204.5(ASCC2):c.613T>C (p.Phe205Leu)	ASCC2 (F27L +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2241126	NM_032204.5(ASCC2):c.598A>G (p.Thr200Ala)	ASCC2 (T124A +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2556847	NM_032204.5(ASCC2):c.514A>G (p.Asn172Asp)	ASCC2 (N58D +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3317723	NM_032204.5(ASCC2):c.362G>A (p.Arg121Gln)	ASCC2 (R121Q +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2325620	NM_032204.5(ASCC2):c.289T>C (p.Tyr97His)	ASCC2 (Y44H +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2296025	NM_032204.5(ASCC2):c.253G>A (p.Glu85Lys)	ASCC2 (E32K +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2323966	NM_032204.5(ASCC2):c.173G>A (p.Arg58His)	ASCC2 (R58H)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3130225	NM_032204.5(ASCC2):c.148G>A (p.Ala50Thr)	ASCC2 (A50T)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2546574	NM_032204.5(ASCC2):c.92A>G (p.Gln31Arg)	ASCC2 (Q31R)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2233840	NM_032204.5(ASCC2):c.77C>T (p.Ala26Val)	ASCC2 (A26V)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 1526730	GRCh37/hg19 22q12.2(chr22:30021252-30305283)	ASCC2, CABP7 +4 more	Copy number gain	not specified	GUncertain significance
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 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 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
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: 79