ClinVar for Gene (Select 128853) - ClinVar

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Links from Gene

Items: 43

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3248338	NC_000020.10:g.(?_30226821)_(31025141_?)dup	ASXL1, BCL2L1 +14 more	Duplication	not provided	GUncertain significance
Select item 3236644	NM_080611.5(DUSP15):c.294del (p.Ile98fs)	DUSP15 (I95fs +1 more)	Deletion (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 3086273	NM_080611.5(DUSP15):c.613C>T (p.Pro205Ser)	DUSP15, LOC130065619 (P102S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3086271	NM_080611.5(DUSP15):c.466G>C (p.Glu156Gln)	DUSP15 (E156Q +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3086270	NM_080611.5(DUSP15):c.103A>T (p.Ile35Phe)	DUSP15 (I32F +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	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 2595973	NM_080611.5(DUSP15):c.601G>A (p.Val201Met)	DUSP15, LOC130065619 (V198M +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2553528	NM_080611.5(DUSP15):c.587C>T (p.Thr196Ile)	DUSP15, LOC130065619 (T93I +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2517089	NM_080611.5(DUSP15):c.443G>A (p.Arg148Gln)	DUSP15 (R148Q +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2512179	NM_080611.5(DUSP15):c.87T>G (p.Asn29Lys)	DUSP15 (N26K +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2509460	NM_080611.5(DUSP15):c.578C>T (p.Ser193Phe)	DUSP15, LOC130065619 (S193F +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2488763	NM_080611.5(DUSP15):c.704A>G (p.Lys235Arg)	DUSP15, LOC130065619 (K232R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2402634	NM_080611.5(DUSP15):c.550T>G (p.Ser184Ala)	DUSP15, LOC130065619 (S81A +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2384997	NM_080611.5(DUSP15):c.571G>C (p.Ala191Pro)	DUSP15, LOC130065619 (A188P +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2381097	NM_080611.5(DUSP15):c.604C>T (p.Pro202Ser)	DUSP15, LOC130065619 (P99S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2379614	NM_080611.5(DUSP15):c.580G>C (p.Glu194Gln)	DUSP15, LOC130065619 (E191Q +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2312034	NM_080611.5(DUSP15):c.453G>C (p.Glu151Asp)	DUSP15 (E48D +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2278150	NM_080611.5(DUSP15):c.535T>G (p.Ser179Ala)	DUSP15 (S179A +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2268195	NM_080611.5(DUSP15):c.574G>C (p.Ala192Pro)	DUSP15, LOC130065619 (A189P +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2242887	NM_080611.5(DUSP15):c.542C>T (p.Thr181Ile)	DUSP15, LOC130065619 (T181I +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2224110	NM_080611.5(DUSP15):c.596G>T (p.Arg199Leu)	DUSP15, LOC130065619 (R196L +2 more)	Single nucleotide variant (missense 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 1340735	GRCh37/hg19 20q11.21(chr20:30239509-30494851)x3	BCL2L1, DUSP15 +4 more	Copy number gain	not provided	GLikely benign
Select item 1340492	GRCh37/hg19 20q11.21(chr20:29652122-30518304)x3	BCL2L1, COX4I2 +15 more	Copy number gain	not provided	GLikely benign
Select item 979729	GRCh37/hg19 20q11.21(chr20:29833534-30494851)x3	DEFB115, DEFB123 +15 more	Copy number gain	not provided	GLikely benign
Select item 979562	GRCh37/hg19 20p11.23-q11.21(chr20:19750804-30479077)x3	CST9, ACSS1 +57 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 443671	GRCh37/hg19 20p11.21-q11.21(chr20:24876569-30494851)x3	ABHD12, ACSS1 +27 more	Copy number gain	See cases	GUncertain significance
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

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Links from Gene

Items: 43