ClinVar for Gene (Select 3055) - ClinVar

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Links from Gene

Items: 47

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 2623455	NM_002110.5(HCK):c.981G>T (p.Glu327Asp)	HCK (E305D +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2621362	NM_002110.5(HCK):c.1484A>G (p.Lys495Arg)	HCK (K474R +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2604871	NM_002110.5(HCK):c.1475G>A (p.Arg492His)	HCK (R470H +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2593645	NM_002110.5(HCK):c.562G>C (p.Asp188His)	HCK (D166H +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2593062	NM_002110.5(HCK):c.1490G>A (p.Arg497His)	HCK (R477H +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2512071	NM_002110.5(HCK):c.268G>A (p.Glu90Lys)	HCK (E90K +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2481570	NM_002110.5(HCK):c.1306A>G (p.Ile436Val)	HCK (I414V +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2462985	NM_002110.5(HCK):c.1415G>A (p.Arg472His)	HCK (R450H +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2460095	NM_002110.5(HCK):c.13T>C (p.Ser5Pro)	HCK (S5P)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2446380	NM_002110.5(HCK):c.1545C>A (p.Tyr515Ter)	HCK (Y493* +3 more)	Single nucleotide variant (nonsense)	Autoinflammation with pulmonary and cutaneous vasculitis	GPathogenic
Select item 2377352	NM_002110.5(HCK):c.353G>A (p.Arg118Gln)	HCK (R97Q +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2372242	NM_002110.5(HCK):c.182C>T (p.Pro61Leu)	HCK (P61L +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2361650	NM_002110.5(HCK):c.282C>G (p.His94Gln)	HCK (H73Q +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2352414	NM_002110.5(HCK):c.31G>A (p.Gly11Ser)	HCK (G11S)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2349827	NM_002110.5(HCK):c.403C>T (p.Arg135Cys)	HCK (R134C +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2345356	NM_002110.5(HCK):c.223G>C (p.Glu75Gln)	HCK (E75Q +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2329909	NM_002110.5(HCK):c.1042G>C (p.Asp348His)	HCK (D326H +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2325063	NM_002110.5(HCK):c.644C>T (p.Thr215Ile)	HCK (T214I +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2308242	NM_002110.5(HCK):c.101G>T (p.Gly34Val)	HCK (G13V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2306892	NM_002110.5(HCK):c.415C>G (p.Leu139Val)	HCK (L138V +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2297442	NM_002110.5(HCK):c.550G>A (p.Val184Met)	HCK (V164M +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2261082	NM_002110.5(HCK):c.536G>A (p.Ser179Asn)	HCK (S159N +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2251991	NM_002110.5(HCK):c.849G>T (p.Lys283Asn)	HCK (K262N +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2251263	NM_002110.5(HCK):c.176T>G (p.Ile59Ser)	HCK (I39S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2223710	NM_002110.5(HCK):c.1487A>C (p.Asn496Thr)	HCK (N474T +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 809243	NM_002110.5(HCK):c.1555G>T (p.Glu519Ter)	HCK (E499* +4 more)	Single nucleotide variant (nonsense)	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	CST11, CST2 +89 more	Duplication	not provided	GPathogenic
Select item 443340	GRCh37/hg19 20p13-q13.33(chr20:61569-62915555)x3	KIF3B, KIZ +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 253408	GRCh37/hg19 20p12.1-q11.21(chr20:17705775-31600738)x3	CD93, PDRG1 +89 more	Copy number gain	See cases	GPathogenic
Select item 153447	GRCh38/hg38 20q11.21-11.23(chr20:32062768-35906606)x3	LOC130065743, LOC130065744 +254 more	Copy number gain	See cases	GPathogenic
Select item 146596	GRCh38/hg38 20p13-q13.33(chr20:99557-64277321)x3	LOC130065566, LOC130065567 +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	LOC130065574, LOC130065575 +950 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 47