DEFB119[gene] - ClinVar

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Items: 37

	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 152494	GRCh38/hg38 20q11.21(chr20:31254983-31660401)x3	COX4I2, DEFB115 +27 more	Copy number gain	See cases	GUncertain significance
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 2260335	NM_153289.4(DEFB119):c.185G>A (p.Arg62Lys)	DEFB119 (R62K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2240870	NM_153289.4(DEFB119):c.140T>G (p.Leu47Arg)	DEFB119 (L47R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3081313	NM_153289.4(DEFB119):c.119A>G (p.Lys40Arg)	DEFB119 (K40R)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2242005	NM_153289.4(DEFB119):c.109G>A (p.Ala37Thr)	DEFB119 (A37T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2381950	NM_153289.4(DEFB119):c.83G>A (p.Cys28Tyr)	DEFB119 (M41I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2614126	NM_153289.4(DEFB119):c.80G>A (p.Arg27Gln)	DEFB119 (R27Q)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2373305	NM_153289.4(DEFB119):c.61+1291C>T	DEFB119 (R54C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3271460	NM_153289.4(DEFB119):c.61+1262G>A	DEFB119 (R43Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2551650	NM_153289.4(DEFB119):c.61+1219C>T	DEFB119 (R29W +1 more)	Single nucleotide variant (missense 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 1809278	GRCh37/hg19 20q11.21-11.23(chr20:29652122-35603726)x3	AAR2, ACSS2 +98 more	Copy number gain	not provided	GLikely pathogenic
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 1340492	GRCh37/hg19 20q11.21(chr20:29652122-30518304)x3	BCL2L1, COX4I2 +15 more	Copy number gain	not provided	GLikely benign
Select item 1340481	GRCh37/hg19 20q11.21(chr20:29833535-30195919)x3	DEFB115, DEFB116 +8 more	Copy number gain	not provided	GLikely benign
Select item 1340141	GRCh37/hg19 20q11.21(chr20:29652122-30272637)x3	BCL2L1, COX4I2 +10 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 816123	GRCh37/hg19 20q11.21(chr20:29651839-30195919)x3	REM1, DEFB116 +8 more	Copy number gain	not provided	GLikely benign
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 688778	GRCh37/hg19 20q11.21(chr20:29835457-30232565)x3	COX4I2, DEFB115 +9 more	Copy number gain	not provided	GUncertain significance
Select item 560101	Single allele	HCK, HM13 +89 more	Duplication	not provided	GPathogenic
Select item 446352	GRCh37/hg19 20q11.21(chr20:29425357-30226690)x3	COX4I2, DEFB115 +10 more	Copy number gain	See cases	GUncertain significance
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 395214	GRCh37/hg19 20q11.21(chr20:29877878-30231917)x3	COX4I2, DEFB116 +8 more	Copy number gain	See cases	GLikely benign
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: 37