ITGB3BP[gene] - ClinVar

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Items: 37

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58079	GRCh38/hg38 1p32.3-31.1(chr1:52595352-76767765)x3	ACADM, ACOT11 +570 more	Copy number gain	See cases	GPathogenic
Select item 153325	GRCh38/hg38 1p32.3-31.3(chr1:52787503-67339873)x3	ACOT11, AK4 +422 more	Copy number gain	See cases	GLikely pathogenic
Select item 150647	GRCh38/hg38 1p32.3-31.3(chr1:53627272-64248854)x1	ACOT11, ALG6 +280 more	Copy number loss	See cases	GPathogenic
Select item 59970	GRCh38/hg38 1p32.2-31.1(chr1:57350574-71325924)x1	LOC111501769, LOC112590812 +339 more	Copy number loss	See cases	GPathogenic
Select item 147765	GRCh38/hg38 1p32.1-22.3(chr1:58819605-86098611)x1	MIGA1, MIR101-1 +558 more	Copy number loss	See cases	GPathogenic
Select item 144714	GRCh38/hg38 1p32.1-31.2(chr1:58819605-69107108)x1	AK4, ALG6 +276 more	Copy number loss	See cases	GPathogenic
Select item 59971	GRCh38/hg38 1p32.1-31.1(chr1:59632500-76730877)x1	ACADM, AK4 +331 more	Copy number loss	See cases	GPathogenic
Select item 144228	GRCh38/hg38 1p32.1-31.1(chr1:59760856-71578052)x1	DEPDC1, DEPDC1-AS1 +270 more	Copy number loss	See cases	GPathogenic
Select item 57090	GRCh38/hg38 1p32.1-31.1(chr1:60473800-70944955)x1	LOC122094841, LOC122094842 +253 more	Copy number loss	See cases	GPathogenic
Select item 58081	GRCh38/hg38 1p31.3(chr1:61922650-66445757)x3	AK4, ALG6 +129 more	Copy number gain	See cases	GPathogenic
Select item 2498184	NC_000001.11:g.63395673_63749318del	ALG6, DLEU2L +9 more	Deletion	Craniosynostosis syndrome	GUncertain significance
Select item 2477376	NM_014288.5(ITGB3BP):c.491G>C (p.Arg164Pro)	ITGB3BP (R164P +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2614411	NM_014288.5(ITGB3BP):c.439A>G (p.Asn147Asp)	ITGB3BP (N186D +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3111444	NM_014288.5(ITGB3BP):c.433A>G (p.Lys145Glu)	ITGB3BP (K105E +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3111443	NM_014288.5(ITGB3BP):c.381T>G (p.Cys127Trp)	ITGB3BP (C166W +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2208310	NM_014288.5(ITGB3BP):c.328A>G (p.Ile110Val)	ITGB3BP (I110V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2368931	NM_014288.5(ITGB3BP):c.259A>G (p.Met87Val)	ITGB3BP (M47V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2618910	NM_014288.5(ITGB3BP):c.255A>G (p.Glu85=)	ITGB3BP	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 2352699	NM_032437.4(EFCAB7):c.22G>A (p.Asp8Asn)	EFCAB7, ITGB3BP (D8N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2466290	NM_032437.4(EFCAB7):c.25G>A (p.Ala9Thr)	EFCAB7, ITGB3BP (A9T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2513624	NM_032437.4(EFCAB7):c.52C>T (p.Pro18Ser)	EFCAB7, ITGB3BP (P18S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2395395	NM_032437.4(EFCAB7):c.175C>A (p.Gln59Lys)	EFCAB7, ITGB3BP (Q59K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3247793	NC_000001.10:g.(?_61548464)_(67861772_?)dup	AK4, ALG6 +32 more	Duplication	PGM1-congenital disorder of glycosylation	GUncertain significance
Select item 3063221	GRCh37/hg19 1p31.3(chr1:63047044-64769540)x1	ALG6, ANGPTL3 +8 more	Copy number loss	not specified	GUncertain significance
Select item 3063010	GRCh37/hg19 1p31.3(chr1:63885043-65190254)x1	ALG6, CACHD1 +5 more	Copy number loss	not specified	GPathogenic
Select item 3062689	GRCh37/hg19 1p32.1-31.3(chr1:60641326-65216639)x1	ALG6, ANGPTL3 +16 more	Copy number loss	not specified	GPathogenic
Select item 2425382	NC_000001.10:g.(?_61548464)_(67861772_?)del	AK4, ALG6 +32 more	Deletion	not provided	GPathogenic
Select item 981205	GRCh37/hg19 1p32.3-31.3(chr1:53675707-66644963)x1	L1TD1, LDLRAD1 +67 more	Copy number loss	Chromosome 1p32-p31 deletion syndrome	GPathogenic
Select item 666427	Single allele	ROR1, RPE65 +53 more	Deletion	Intellectual disability, severe	GPathogenic
Select item 635767	GRCh37/hg19 1p36.22-21.1(chr1:103343285-103455144)x3	AGL, AGMAT +783 more	Copy number gain	Intellectual disability, mild +1 more	GUncertain significance
Select item 565104	GRCh37/hg19 1p31.3(chr1:62830524-65396403)x1	CACHD1, ANGPTL3 +12 more	Copy number loss	not provided	GUncertain significance
Select item 565103	GRCh37/hg19 1p31.3(chr1:62468555-65584629)x3	KANK4, EFCAB7 +16 more	Copy number gain	not provided	GUncertain significance
Select item 565102	GRCh37/hg19 1p31.3-31.1(chr1:62434799-71656180)x3	AK4, ALG6 +46 more	Copy number gain	not provided	GPathogenic
Select item 443569	GRCh37/hg19 1p31.3(chr1:63322607-64040590)x3	ALG6, ATG4C +3 more	Copy number gain	See cases	GUncertain significance
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	CD34, CD46 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	GPATCH2, GPATCH3 +2014 more	Copy number gain	See cases	GPathogenic
Select item 441647	GRCh37/hg19 1p31.3-31.1(chr1:61351024-79583933)x1	ACADM, ADGRL4 +78 more	Copy number loss	See cases	GPathogenic

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Items: 37