DEFB126[gene] - ClinVar

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Items: 68

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150785	GRCh38/hg38 20p13-12.3(chr20:80093-6386012)x3	LOC130065401, LOC130065402 +348 more	Copy number gain	See cases	GPathogenic
Select item 150565	GRCh38/hg38 20p13(chr20:80093-1246766)x1	ANGPT4, C20orf202 +76 more	Copy number loss	See cases	GPathogenic
Select item 154852	GRCh38/hg38 20p13(chr20:80106-1246891)x1	ANGPT4, C20orf202 +76 more	Copy number loss	See cases	GLikely pathogenic
Select item 150049	GRCh38/hg38 20p13(chr20:80106-702368)x3	C20orf96, CSNK2A1 +51 more	Copy number gain	See cases	GUncertain significance
Select item 149704	GRCh38/hg38 20p13-12.1(chr20:80106-13029401)x3	LOC130065344, LOC130065345 +455 more	Copy number gain	See cases	GPathogenic
Select item 144514	GRCh38/hg38 20p13-q11.1(chr20:80106-30227427)x3	LOC129456123, LOC130065248 +833 more	Copy number gain	See cases	GPathogenic
Select item 144423	GRCh38/hg38 20p13(chr20:80106-170967)x3	DEFB125, DEFB126 +1 more	Copy number gain	See cases	GBenign
Select item 155633	GRCh38/hg38 20p13(chr20:80927-1806080)x1	ANGPT4, C20orf202 +103 more	Copy number loss	See cases	GLikely pathogenic
Select item 154176	GRCh38/hg38 20p13-12.3(chr20:80927-5447679)x3	LOC112694699, LOC112694712 +306 more	Copy number gain	See cases	GUncertain significance
Select item 153731	GRCh38/hg38 20p13-11.1(chr20:80927-26324843)x3	ABHD12, ACSS1 +828 more	Copy number gain	See cases	GPathogenic
Select item 155359	GRCh38/hg38 20p13-11.23(chr20:80928-18688031)x3	ADAM33, ADISSP +571 more	Copy number gain	See cases	GPathogenic
Select item 152841	GRCh38/hg38 20p13-12.3(chr20:84402-6159078)x3	LOC114004355, LOC116286198 +347 more	Copy number gain	See cases	GPathogenic
Select item 2579201	GRCh38/hg38 20p13-11.21(chr20:87153-23635465)x3	ADAM33, ADISSP +731 more	Copy number gain	Renal agenesis	GPathogenic
Select item 161074	GRCh38/hg38 20p13(chr20:89939-1852477)x1	ANGPT4, C20orf202 +104 more	Copy number loss	See cases	GPathogenic
Select item 146529	GRCh38/hg38 20p13(chr20:89939-1494113)x1	DEFB129, DEFB132 +96 more	Copy number loss	See cases	GPathogenic
Select item 146515	GRCh38/hg38 20p13(chr20:89939-1246891)x3	ANGPT4, C20orf202 +76 more	Copy number gain	See cases	GUncertain significance
Select item 146085	GRCh38/hg38 20p13(chr20:89939-364235)x1	C20orf96, DEFB125 +27 more	Copy number loss	See cases	GPathogenic
Select item 59191	GRCh38/hg38 20p13-11.23(chr20:89939-19071495)x3	ADAM33, ADISSP +579 more	Copy number gain	See cases	GPathogenic
Select item 58943	GRCh38/hg38 20p13(chr20:89939-1770567)x1	ANGPT4, C20orf202 +102 more	Copy number loss	See cases	GPathogenic
Select item 58942	GRCh38/hg38 20p13(chr20:89939-1939218)x1	LOC129391148, LOC129391149 +110 more	Copy number loss	See cases	GPathogenic
Select item 58941	GRCh38/hg38 20p13(chr20:89939-975656)x1	ANGPT4, C20orf96 +64 more	Copy number loss	See cases	GPathogenic
Select item 57514	GRCh38/hg38 20p13-11.21(chr20:89939-25697564)x3	FASTKD5, FERMT1 +814 more	Copy number gain	See cases	GPathogenic
Select item 57354	GRCh38/hg38 20p13-11.23(chr20:89939-19146279)x3	LOC130065324, LOC130065325 +581 more	Copy number gain	See cases	GPathogenic
Select item 57307	GRCh38/hg38 20p13(chr20:89939-1028206)x3	ANGPT4, C20orf96 +65 more	Copy number gain	See cases	GPathogenic
Select item 57188	GRCh38/hg38 20p13(chr20:89939-1360110)x1	ANGPT4, C20orf202 +87 more	Copy number loss	See cases	GPathogenic
Select item 35265	GRCh38/hg38 20p13(chr20:89939-1852477)x1	ANGPT4, C20orf202 +104 more	Copy number loss	See cases	GPathogenic
Select item 146596	GRCh38/hg38 20p13-q13.33(chr20:99557-64277321)x3	JPH2, KAT14 +2522 more	Copy number gain	See cases	GPathogenic
Select item 151035	GRCh38/hg38 20p13(chr20:102451-458699)x3	C20orf96, DEFB126 +34 more	Copy number gain	See cases	GLikely benign
Select item 58945	GRCh38/hg38 20p13(chr20:121781-2290194)x1	ANGPT4, C20orf202 +120 more	Copy number loss	See cases	GPathogenic
Select item 3081320	NM_030931.4(DEFB126):c.91G>A (p.Val31Ile)	DEFB126 (V31I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2327827	NM_030931.4(DEFB126):c.112T>C (p.Cys38Arg)	DEFB126 (C38R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3081318	NM_030931.4(DEFB126):c.157G>A (p.Gly53Ser)	DEFB126 (G53S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 402585	NM_030931.4(DEFB126):c.163_166del (p.Gln55fs)	DEFB126 (Q55fs)	Microsatellite (frameshift variant)	not specified	GBenign
Select item 3081319	NM_030931.4(DEFB126):c.193C>T (p.Arg65Cys)	DEFB126 (R65C)	Single nucleotide variant (synonymous variant +1 more)	not specified	GUncertain significance
Select item 2387372	NM_030931.4(DEFB126):c.208G>C (p.Val70Leu)	DEFB126 (V70L)	Single nucleotide variant (synonymous variant +1 more)	not specified	GUncertain significance
Select item 2529791	NM_030931.4(DEFB126):c.284C>T (p.Thr95Ile)	DEFB126 (T95I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2618171	NM_030931.4(DEFB126):c.302C>T (p.Ser101Leu)	DEFB126 (S101L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 402586	NM_030931.4(DEFB126):c.317_318del (p.Pro106fs)	DEFB126 (P106fs)	Deletion (frameshift variant)	not specified	GBenign
Select item 3024619	GRCh37/hg19 20p13-11.21(chr20:68351-23860313)x3	RAD21L1, RALGAPA2 +164 more	Copy number gain	not provided	GPathogenic
Select item 3024618	GRCh37/hg19 20p13-12.1(chr20:68351-16142323)x3	SIRPB2, SIRPD +114 more	Copy number gain	not provided	GPathogenic
Select item 2684899	GRCh37/hg19 20p13-12.2(chr20:61569-9542361)x3	ADAM33, ADISSP +100 more	Copy number gain	not provided	GPathogenic
Select item 2684898	GRCh37/hg19 20p13(chr20:61569-1794919)x3	ANGPT4, C20orf202 +31 more	Copy number gain	not provided	GUncertain significance
Select item 2671604	Single allele	ANGPT4, C20orf96 +19 more	Deletion	not provided	GPathogenic
Select item 2671592	Single allele	C20orf202, ZCCHC3 +35 more	Deletion	not provided	GPathogenic
Select item 1808024	GRCh37/hg19 20p13(chr20:79455-347319)x1	C20orf96, DEFB126 +7 more	Copy number loss	not provided	GUncertain significance
Select item 1526676	GRCh37/hg19 20p13(chr20:61568-1823540)	ANGPT4, C20orf202 +31 more	Copy number loss	not specified	GPathogenic
Select item 1526675	GRCh37/hg19 20p13(chr20:61568-806878)	C20orf96, CSNK2A1 +16 more	Copy number loss	not specified	GLikely pathogenic
Select item 1047898	GRCh37/hg19 20p13(chr20:67778-974841)	NRSN2, RBCK1 +19 more	Copy number loss	Short stature +1 more	GPathogenic
Select item 979574	GRCh37/hg19 20p13(chr20:61568-677437)x1	C20orf96, CSNK2A1 +15 more	Copy number loss	not provided	GLikely pathogenic
Select item 929370	GRCh37/hg19 20p13(chr20:63244-813880)x1	TRIB3, ZCCHC3 +16 more	Copy number loss	See cases	GPathogenic
Select item 816102	GRCh37/hg19 20p13-11.1(chr20:61568-26305479)x3	ABHD12, ACSS1 +177 more	Copy number gain	not provided	GPathogenic
Select item 816101	GRCh37/hg19 20p13(chr20:61568-1305971)x1	ANGPT4, C20orf202 +25 more	Copy number loss	not provided	GPathogenic
Select item 816099	GRCh37/hg19 20p13(chr20:61568-2269777)x1	DEFB132, FAM110A +34 more	Copy number loss	not provided	GPathogenic
Select item 685822	GRCh37/hg19 20p13(chr20:61568-491171)x1	C20orf96, CSNK2A1 +12 more	Copy number loss	not provided	GUncertain significance
Select item 564643	GRCh37/hg19 20p13(chr20:61568-2010334)x1	ANGPT4, C20orf202 +33 more	Copy number loss	not provided	GLikely pathogenic
Select item 443775	GRCh37/hg19 20p13(chr20:61568-619400)x1	C20orf96, CSNK2A1 +13 more	Copy number loss	See cases	GUncertain significance
Select item 443774	GRCh37/hg19 20p13-12.2(chr20:61568-10486106)x3	ADAM33, ADISSP +104 more	Copy number gain	See cases	GLikely pathogenic
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 442856	GRCh37/hg19 20p13(chr20:61568-431502)x1	C20orf96, DEFB125 +11 more	Copy number loss	See cases	GPathogenic
Select item 442743	GRCh37/hg19 20p13(chr20:61568-2824960)x3	NSFL1C, PCED1A +48 more	Copy number gain	See cases	GUncertain significance
Select item 441596	GRCh37/hg19 20p13(chr20:61568-1651420)x1	ANGPT4, C20orf202 +31 more	Copy number loss	See cases	GLikely pathogenic
Select item 424642	GRCh37/hg19 20p13-q11.21(chr20:80198-26208081)x3	ESF1, FAM110A +178 more	Copy number gain	not provided	GPathogenic
Select item 393750	GRCh37/hg19 20p13(chr20:121521-2073612)x1	ANGPT4, C20orf202 +32 more	Copy number loss	See cases	GPathogenic
Select item 253647	GRCh37/hg19 20p13-11.1(chr20:80198-26075841)x3	ABHD12, ACSS1 +176 more	Copy number gain	See cases	GPathogenic
Select item 253566	GRCh37/hg19 20p13-12.3(chr20:121521-5564937)x3	ADAM33, ADISSP +85 more	Copy number gain	See cases	GPathogenic
Select item 226269	GRCh37/hg19 20p13(chr20:113651-184813)	DEFB128, DEFB127 +1 more	Copy number loss	Abnormal esophagus morphology	GLikely benign
Select item 202236	GRCh37/hg19 20p13(chr20:71023-2129746)x1	NRSN2, SIRPD +34 more	Copy number loss	See cases	GPathogenic

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Items: 68