ClinVar for Gene (Select 140706) - ClinVar

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

Links from Gene

Items: 56

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3264489	NM_001365692.1(CCM2L):c.731G>A (p.Ser244Asn)	CCM2L (S244N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3264488	NM_001365692.1(CCM2L):c.530C>A (p.Pro177His)	CCM2L (P177H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3264487	NM_001365692.1(CCM2L):c.1042C>T (p.Pro348Ser)	CCM2L (P348S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3264486	NM_001365692.1(CCM2L):c.73G>A (p.Gly25Arg)	CCM2L (G25R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3264485	NM_001365692.1(CCM2L):c.641C>G (p.Ala214Gly)	CCM2L (A214G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3248338	NC_000020.10:g.(?_30226821)_(31025141_?)dup	ASXL1, BCL2L1 +14 more	Duplication	not provided	GUncertain significance
Select item 3139768	NM_001365692.1(CCM2L):c.883C>G (p.Pro295Ala)	CCM2L (P295A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3139767	NM_001365692.1(CCM2L):c.79C>T (p.Arg27Trp)	CCM2L (R27W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3139766	NM_001365692.1(CCM2L):c.703G>A (p.Gly235Ser)	CCM2L (G235S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3139765	NM_001365692.1(CCM2L):c.629G>A (p.Gly210Asp)	CCM2L (G210D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3139764	NM_001365692.1(CCM2L):c.572C>T (p.Thr191Ile)	CCM2L (T191I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3139763	NM_001365692.1(CCM2L):c.364T>G (p.Trp122Gly)	CCM2L (W122G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3139762	NM_001365692.1(CCM2L):c.110G>A (p.Arg37Gln)	CCM2L (R37Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062405	GRCh37/hg19 20q11.21(chr20:29917837-31886619)x3	BPIFB1, BPIFB2 +37 more	Copy number gain	not specified	GUncertain significance
Select item 2684904	GRCh37/hg19 20q11.21(chr20:30582924-30860287)x3	CCM2L, HCK +4 more	Copy number gain	not provided	GUncertain significance
Select item 2614962	NM_001365692.1(CCM2L):c.892G>A (p.Asp298Asn)	CCM2L (D298N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2600344	NM_001365692.1(CCM2L):c.548C>A (p.Ala183Glu)	CCM2L (A183E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2598800	NM_001365692.1(CCM2L):c.620G>C (p.Trp207Ser)	CCM2L (W207S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2594933	NM_001365692.1(CCM2L):c.799T>C (p.Trp267Arg)	CCM2L (W267R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2557090	NM_001365692.1(CCM2L):c.985T>C (p.Tyr329His)	CCM2L (Y329H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2546996	NM_001365692.1(CCM2L):c.205G>A (p.Gly69Ser)	CCM2L (G69S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2539205	NM_001365692.1(CCM2L):c.983T>C (p.Ile328Thr)	CCM2L (I328T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2529732	NM_001365692.1(CCM2L):c.396C>G (p.Ile132Met)	CCM2L (I132M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2516167	NM_001365692.1(CCM2L):c.106C>T (p.Arg36Cys)	CCM2L (R36C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2508772	NM_001365692.1(CCM2L):c.526G>T (p.Asp176Tyr)	CCM2L (D176Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2470615	NM_001365692.1(CCM2L):c.1347C>T (p.Asp449=)	CCM2L (T428I)	Single nucleotide variant (synonymous variant +1 more)	not specified	GUncertain significance
Select item 2463839	NM_001365692.1(CCM2L):c.611G>A (p.Arg204Gln)	CCM2L (R204Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2384989	NM_001365692.1(CCM2L):c.844C>T (p.Arg282Trp)	CCM2L (R282W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2384884	NM_001365692.1(CCM2L):c.614T>G (p.Met205Arg)	CCM2L (M205R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2381584	NM_001365692.1(CCM2L):c.1175C>G (p.Thr392Arg)	CCM2L (R371G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2359168	NM_001365692.1(CCM2L):c.619T>G (p.Trp207Gly)	CCM2L (W207G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2348561	NM_001365692.1(CCM2L):c.1325G>A (p.Arg442Gln)	CCM2L (G421S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2331057	NM_001365692.1(CCM2L):c.473G>A (p.Gly158Asp)	CCM2L (G158D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2287705	NM_001365692.1(CCM2L):c.218G>C (p.Trp73Ser)	CCM2L (W73S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2268613	NM_001365692.1(CCM2L):c.583C>T (p.Arg195Cys)	CCM2L (R195C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2255369	NM_001365692.1(CCM2L):c.935A>G (p.Asp312Gly)	CCM2L (D312G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2241318	NM_001365692.1(CCM2L):c.571A>C (p.Thr191Pro)	CCM2L (T191P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2232853	NM_001365692.1(CCM2L):c.1305G>A (p.Ala435=)	CCM2L (R414Q)	Single nucleotide variant (synonymous variant +1 more)	not specified	GUncertain significance
Select item 2206731	NM_001365692.1(CCM2L):c.1305G>T (p.Ala435=)	CCM2L (R414L)	Single nucleotide variant (synonymous variant +1 more)	not specified	GUncertain significance
Select item 1809278	GRCh37/hg19 20q11.21-11.23(chr20:29652122-35603726)x3	AAR2, ACSS2 +98 more	Copy number gain	not provided	GLikely pathogenic
Select item 1808851	GRCh37/hg19 20q11.21(chr20:30299729-30687587)x3	BCL2L1, CCM2L +8 more	Copy number gain	not provided	GUncertain significance
Select item 1808687	GRCh37/hg19 20q11.21-11.23(chr20:29833535-34815537)x3	ACSS2, ACTL10 +86 more	Copy number gain	not provided	GLikely pathogenic
Select item 1526690	GRCh37/hg19 20p11.21-q11.22(chr20:25442597-33761550)	ACSS2, ACTL10 +71 more	Copy number gain	not specified	GPathogenic
Select item 1526688	GRCh37/hg19 20p11.21-q11.21(chr20:24162775-31820857)	ABHD12, ACSS1 +50 more	Copy number gain	not specified	GLikely pathogenic
Select item 1341087	GRCh37/hg19 20p11.23-q11.22(chr20:18665879-33903216)x3	ABHD12, ACSS1 +117 more	Copy number gain	not provided	GLikely pathogenic
Select item 689044	GRCh37/hg19 20q11.21-11.23(chr20:29833608-35087952)x3	AAR2, ACSS2 +88 more	Copy number gain	not provided	GPathogenic
Select item 560101	Single allele	HCK, HM13 +89 more	Duplication	not provided	GPathogenic
Select item 443340	GRCh37/hg19 20p13-q13.33(chr20:61569-62915555)x3	AAR2, ABHD12 +540 more	Copy number gain	See cases	GPathogenic
Select item 443339	GRCh37/hg19 20p13-q13.33(chr20:61569-62915555)	AAR2, ABHD12 +540 more	Copy number gain	See cases	GPathogenic
Select item 442379	GRCh37/hg19 20q11.21(chr20:29833535-30599771)x3	BCL2L1, CCM2L +18 more	Copy number gain	See cases	GUncertain significance
Select item 253408	GRCh37/hg19 20p12.1-q11.21(chr20:17705775-31600738)x3	CCM2L, CD93 +89 more	Copy number gain	See cases	GPathogenic
Select item 149125	GRCh38/hg38 20q11.21(chr20:31245583-32017285)x4	ABALON, BCL2L1 +62 more	Copy number gain	See cases	GLikely pathogenic
Select item 146596	GRCh38/hg38 20p13-q13.33(chr20:99557-64277321)x3	JPH2, KAT14 +2522 more	Copy number gain	See cases	GPathogenic
Select item 146032	GRCh38/hg38 20q11.21(chr20:31254983-33473080)x3	LOC121627902, LOC121853002 +160 more	Copy number gain	See cases	GPathogenic
Select item 145102	GRCh38/hg38 20q11.21(chr20:31254983-32575288)x3	ABALON, ASXL1 +104 more	Copy number gain	See cases	GPathogenic
Select item 59195	GRCh38/hg38 20p12.2-q12(chr20:9811433-39316956)x3	LOC613266, MACROD2 +950 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: 56