ClinVar for Gene (Select 10291) - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 46

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3317819	NM_005877.6(SF3A1):c.50C>T (p.Thr17Met)	CCDC157, LOC130067209 +1 more (T17M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3317816	NM_005877.6(SF3A1):c.1349A>G (p.Gln450Arg)	SF3A1 (Q450R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3317815	NM_005877.6(SF3A1):c.791A>G (p.Lys264Arg)	SF3A1 (K264R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3160801	NM_005877.6(SF3A1):c.876A>C (p.Gln292His)	SF3A1 (Q292H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3160799	NM_005877.6(SF3A1):c.77A>C (p.Glu26Ala)	SF3A1 (E26A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3160798	NM_005877.6(SF3A1):c.686T>C (p.Leu229Pro)	SF3A1 (L229P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3160797	NM_005877.6(SF3A1):c.38C>T (p.Pro13Leu)	CCDC157, LOC130067209 +1 more (P13L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3160796	NM_005877.6(SF3A1):c.1936A>G (p.Met646Val)	SF3A1 (M646V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3160795	NM_005877.6(SF3A1):c.1891A>G (p.Met631Val)	SF3A1 (M631V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3160794	NM_005877.6(SF3A1):c.1673C>T (p.Pro558Leu)	SF3A1 (P558L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2671887	NM_005877.6(SF3A1):c.1641del (p.Ser548fs)	SF3A1 (S548fs)	Deletion (frameshift variant)	Malignant lymphoma, large B-cell, diffuse	GPathogenic
Select item 2653056	NM_005877.6(SF3A1):c.226A>T (p.Ile76Phe)	SF3A1 (I76F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2619377	NM_005877.6(SF3A1):c.869A>G (p.Asn290Ser)	SF3A1 (N290S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2616324	NM_005877.6(SF3A1):c.1783C>T (p.Pro595Ser)	SF3A1 (P595S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2529402	NM_005877.6(SF3A1):c.1634T>G (p.Ile545Ser)	SF3A1 (I545S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2492262	NM_005877.6(SF3A1):c.575A>G (p.Asn192Ser)	SF3A1 (N192S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2490016	NM_005877.6(SF3A1):c.1703G>A (p.Ser568Asn)	SF3A1 (S568N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2391158	NM_005877.6(SF3A1):c.1652A>G (p.Asn551Ser)	SF3A1 (N551S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2386437	NM_005877.6(SF3A1):c.29C>T (p.Pro10Leu)	CCDC157, LOC130067209 +1 more (P10L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2302849	NM_005877.6(SF3A1):c.287A>G (p.His96Arg)	SF3A1 (H96R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2293715	NM_005877.6(SF3A1):c.688A>C (p.Lys230Gln)	SF3A1 (K230Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2251949	NM_005877.6(SF3A1):c.670G>T (p.Gly224Cys)	SF3A1 (G224C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1808303	GRCh37/hg19 22q12.2(chr22:30649178-31035087)x3	CASTOR1, CCDC157 +13 more	Copy number gain	not provided	GUncertain significance
Select item 1466555	NC_000022.10:g.(?_29083885)_(34046674_?)dup	AP1B1, ASCC2 +71 more	Duplication	not provided	GUncertain significance
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 816216	GRCh37/hg19 22q12.2-13.33(chr22:30654764-51197838)x3	CERK, CHADL +271 more	Copy number gain	not provided	GPathogenic
Select item 777682	NM_005877.6(SF3A1):c.651+8G>C	SF3A1	Single nucleotide variant (intron 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 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
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 149559	GRCh38/hg38 22q12.2(chr22:30312256-30950316)x3	CCDC157, DUSP18 +54 more	Copy number gain	See cases	GUncertain significance
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 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

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from Gene

Items: 46