16153[HGNC] - ClinVar

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Items: 56

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146596	GRCh38/hg38 20p13-q13.33(chr20:99557-64277321)x3	JPH2, KAT14 +2522 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
Select item 149125	GRCh38/hg38 20q11.21(chr20:31245583-32017285)x4	ABALON, BCL2L1 +62 more	Copy number gain	See cases	GLikely pathogenic
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 3264486	NM_001365692.1(CCM2L):c.73G>A (p.Gly25Arg)	CCM2L (G25R)	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 2516167	NM_001365692.1(CCM2L):c.106C>T (p.Arg36Cys)	CCM2L (R36C)	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 2546996	NM_001365692.1(CCM2L):c.205G>A (p.Gly69Ser)	CCM2L (G69S)	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 3139763	NM_001365692.1(CCM2L):c.364T>G (p.Trp122Gly)	CCM2L (W122G)	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 2331057	NM_001365692.1(CCM2L):c.473G>A (p.Gly158Asp)	CCM2L (G158D)	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 3264488	NM_001365692.1(CCM2L):c.530C>A (p.Pro177His)	CCM2L (P177H)	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 2241318	NM_001365692.1(CCM2L):c.571A>C (p.Thr191Pro)	CCM2L (T191P)	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 2268613	NM_001365692.1(CCM2L):c.583C>T (p.Arg195Cys)	CCM2L (R195C)	Single nucleotide variant (missense variant)	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 2384884	NM_001365692.1(CCM2L):c.614T>G (p.Met205Arg)	CCM2L (M205R)	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 2598800	NM_001365692.1(CCM2L):c.620G>C (p.Trp207Ser)	CCM2L (W207S)	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 3264485	NM_001365692.1(CCM2L):c.641C>G (p.Ala214Gly)	CCM2L (A214G)	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 3264489	NM_001365692.1(CCM2L):c.731G>A (p.Ser244Asn)	CCM2L (S244N)	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 2384989	NM_001365692.1(CCM2L):c.844C>T (p.Arg282Trp)	CCM2L (R282W)	Single nucleotide variant (missense variant)	not specified	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 2614962	NM_001365692.1(CCM2L):c.892G>A (p.Asp298Asn)	CCM2L (D298N)	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 2539205	NM_001365692.1(CCM2L):c.983T>C (p.Ile328Thr)	CCM2L (I328T)	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 3264487	NM_001365692.1(CCM2L):c.1042C>T (p.Pro348Ser)	CCM2L (P348S)	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 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 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 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 3248338	NC_000020.10:g.(?_30226821)_(31025141_?)dup	ASXL1, BCL2L1 +14 more	Duplication	not provided	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 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

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Items: 56