IVNS1ABP[gene] - ClinVar

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Items: 52

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155621	GRCh38/hg38 1q24.2-31.1(chr1:170036068-187555148)x1	LOC122149328, LOC122149329 +540 more	Copy number loss	See cases	GPathogenic
Select item 154301	GRCh38/hg38 1q24.3-31.2(chr1:170929720-191065409)x1	IER5, IVNS1ABP +560 more	Copy number loss	See cases	GPathogenic
Select item 145519	GRCh38/hg38 1q24.3-31.1(chr1:171039975-186875957)x3	ACBD6, ANGPTL1 +513 more	Copy number gain	See cases	GPathogenic
Select item 57510	GRCh38/hg38 1q25.1-31.1(chr1:175035040-186042595)x1	ABL2, ACBD6 +347 more	Copy number loss	See cases	GPathogenic
Select item 144717	GRCh38/hg38 1q25.2-31.3(chr1:176595962-196301688)x1	LOC126805952, LOC126805953 +455 more	Copy number loss	See cases	GPathogenic
Select item 60076	GRCh38/hg38 1q25.2-32.1(chr1:179032905-199724897)x1	LOC129388668, LOC129388669 +477 more	Copy number loss	See cases	GPathogenic
Select item 60077	GRCh38/hg38 1q25.3-31.1(chr1:182137726-186931125)x1	APOBEC4, ARPC5 +160 more	Copy number loss	See cases	GPathogenic
Select item 144788	GRCh38/hg38 1q25.3(chr1:184102589-185593977)x1	C1orf21, C1orf21-DT +37 more	Copy number loss	See cases	GUncertain significance
Select item 148400	GRCh38/hg38 1q25.3-31.1(chr1:184271950-186238594)x1	C1orf21, C1orf21-DT +46 more	Copy number loss	See cases	GUncertain significance
Select item 144456	GRCh38/hg38 1q25.3-31.1(chr1:184888428-186622330)x1	GS1-204I12.4, HMCN1 +44 more	Copy number loss	See cases	GPathogenic
Select item 2665065	NM_006469.5(IVNS1ABP):c.1910del (p.Thr637fs)	IVNS1ABP (T637fs)	Deletion (frameshift variant)	Immunodeficiency 70	GUncertain significance
Select item 2266242	NM_006469.5(IVNS1ABP):c.1910C>T (p.Thr637Ile)	IVNS1ABP (T637I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 974684	NM_006469.5(IVNS1ABP):c.1899G>A (p.Trp633Ter)	IVNS1ABP (W633*)	Single nucleotide variant (nonsense)	Immunodeficiency 70	GPathogenic
Select item 2635796	NM_006469.5(IVNS1ABP):c.1675G>C (p.Gly559Arg)	IVNS1ABP (G559R)	Single nucleotide variant (missense variant)	IVNS1ABP-related condition	GUncertain significance
Select item 3112037	NM_006469.5(IVNS1ABP):c.1490C>T (p.Pro497Leu)	IVNS1ABP (P497L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3112036	NM_006469.5(IVNS1ABP):c.1423G>A (p.Gly475Ser)	IVNS1ABP (G475S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2629391	NM_006469.5(IVNS1ABP):c.1399A>G (p.Ile467Val)	IVNS1ABP (I467V)	Single nucleotide variant (missense variant)	IVNS1ABP-related condition	GUncertain significance
Select item 1298443	NM_006469.5(IVNS1ABP):c.1357C>T (p.Arg453Cys)	IVNS1ABP (R453C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2291435	NM_006469.5(IVNS1ABP):c.1324G>T (p.Asp442Tyr)	IVNS1ABP (D442Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2639642	NM_006469.5(IVNS1ABP):c.1293T>C (p.Ser431=)	IVNS1ABP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2361063	NM_006469.5(IVNS1ABP):c.1278C>G (p.His426Gln)	IVNS1ABP (H426Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 974683	NM_006469.5(IVNS1ABP):c.1072C>T (p.Arg358Ter)	IVNS1ABP (R358*)	Single nucleotide variant (nonsense)	Immunodeficiency 70	GPathogenic
Select item 3033709	NM_006469.5(IVNS1ABP):c.934T>C (p.Phe312Leu)	IVNS1ABP (F312L)	Single nucleotide variant (missense variant)	IVNS1ABP-related condition	GUncertain significance
Select item 783014	NM_006469.5(IVNS1ABP):c.896-7C>T	IVNS1ABP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2639643	NM_006469.5(IVNS1ABP):c.874G>A (p.Val292Ile)	IVNS1ABP (V292I)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3112040	NM_006469.5(IVNS1ABP):c.654A>T (p.Glu218Asp)	IVNS1ABP (E218D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3064901	NM_006469.5(IVNS1ABP):c.610C>T (p.Arg204Cys)	IVNS1ABP (R204C)	Single nucleotide variant (missense variant)	Immunodeficiency 70	GUncertain significance
Select item 2315464	NM_006469.5(IVNS1ABP):c.605T>G (p.Val202Gly)	IVNS1ABP (V202G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2611575	NM_006469.5(IVNS1ABP):c.553A>C (p.Asn185His)	IVNS1ABP (N185H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2630013	NM_006469.5(IVNS1ABP):c.379T>C (p.Ser127Pro)	IVNS1ABP (S127P)	Single nucleotide variant (missense variant)	IVNS1ABP-related condition	GUncertain significance
Select item 3047896	NM_006469.5(IVNS1ABP):c.282-7dup	IVNS1ABP	Duplication (intron variant)	IVNS1ABP-related condition	GLikely benign
Select item 3029365	NM_006469.5(IVNS1ABP):c.282-7T>A	IVNS1ABP	Single nucleotide variant (intron variant)	IVNS1ABP-related condition	GLikely benign
Select item 3044440	NM_006469.5(IVNS1ABP):c.240A>G (p.Pro80=)	IVNS1ABP	Single nucleotide variant (synonymous variant)	IVNS1ABP-related condition	GLikely benign
Select item 3112039	NM_006469.5(IVNS1ABP):c.236A>G (p.Asn79Ser)	IVNS1ABP (N79S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3112038	NM_006469.5(IVNS1ABP):c.217G>A (p.Val73Ile)	IVNS1ABP (V73I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2639644	NM_006469.5(IVNS1ABP):c.216C>T (p.His72=)	IVNS1ABP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2455050	NM_006469.5(IVNS1ABP):c.199C>A (p.Pro67Thr)	IVNS1ABP (P67T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063521	GRCh37/hg19 1q24.2-31.1(chr1:167994071-187711459)x1	ABL2, ACBD6 +123 more	Copy number loss	not specified	GPathogenic
Select item 1809264	GRCh37/hg19 1q25.3-32.3(chr1:181453460-213107248)x3	IGFN1, IKBKE +211 more	Copy number gain	not provided	GPathogenic
Select item 1808632	GRCh37/hg19 1q25.2-31.2(chr1:179727182-192260142)x1	ACBD6, APOBEC4 +48 more	Copy number loss	not provided	GPathogenic
Select item 1527448	GRCh37/hg19 1q25.2-32.1(chr1:179413479-201764737)	ACBD6, APOBEC4 +98 more	Copy number loss	not specified	GPathogenic
Select item 1527437	GRCh37/hg19 1q25.2-32.1(chr1:179073386-200192265)	ABL2, ACBD6 +82 more	Copy number loss	not specified	GPathogenic
Select item 1527404	GRCh37/hg19 1q24.3-31.3(chr1:171990029-195086758)	BRINP2, BRINP3 +101 more	Copy number loss	not specified	GPathogenic
Select item 1341276	GRCh37/hg19 1q25.2-31.1(chr1:178522021-190322133)x1	ABL2, ACBD6 +56 more	Copy number loss	not provided	GPathogenic
Select item 1003645	NC_000001.10:g.(?_130980840)_(248900000_?)dup	KLHL12, LNCATV +956 more	Duplication	Paragangliomas 3 +2 more	GUncertain significance
Select item 974682	NC_000001.10:g.185276239_185287961del	IVNS1ABP	Deletion	Immunodeficiency 70	GPathogenic
Select item 814145	GRCh37/hg19 1q25.2-32.1(chr1:177551193-199599056)x1	ABL2, ACBD6 +88 more	Copy number loss	not provided	GPathogenic
Select item 685144	GRCh37/hg19 1q25.3-44(chr1:182388773-249111240)x3	CAPN9, CATSPERE +433 more	Copy number gain	not provided	GPathogenic
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	PADI1, PADI2 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	NID1, NIPAL3 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442042	GRCh37/hg19 1q25.2-32.1(chr1:179011314-199022759)x1	NIBAN1, NMNAT2 +83 more	Copy number loss	See cases	GPathogenic
Select item 253546	GRCh37/hg19 1q25.3-31.2(chr1:181572003-191524283)x1	COLGALT2, LAMC1 +35 more	Copy number loss	See cases	GPathogenic

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Items: 52