ITGB5[gene] - ClinVar

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Items: 71

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154258	GRCh38/hg38 3q11.1-24(chr3:93800620-145695381)x3	PDIA5, PHLDB2 +1344 more	Copy number gain	See cases	GPathogenic
Select item 2579175	GRCh38/hg38 3q11.1-21.2(chr3:93979547-124774010)x1	CCDC54-AS1, LOC123002328 +682 more	Copy number loss	Chromosome 3q13.31 deletion syndrome	GPathogenic
Select item 145614	GRCh38/hg38 3q13.11-29(chr3:103426882-198110178)x3	LOC115995524, LOC115995525 +2647 more	Copy number gain	See cases	GPathogenic
Select item 150138	GRCh38/hg38 3q13.2-21.3(chr3:112620977-128734134)x1	LOC129937460, LOC129937461 +571 more	Copy number loss	See cases	GPathogenic
Select item 155628	GRCh38/hg38 3q13.32-21.3(chr3:118673898-126540730)x1	ADCY5, ADPRH +326 more	Copy number loss	See cases	GPathogenic
Select item 57806	GRCh38/hg38 3q13.32-21.2(chr3:119117166-125920734)x1	LOC129937413, LOC129937414 +291 more	Copy number loss	See cases	GPathogenic
Select item 57829	GRCh38/hg38 3q13.33-21.2(chr3:121644209-125676353)x1	ADCY5, CASR +182 more	Copy number loss	See cases	GPathogenic
Select item 152210	GRCh38/hg38 3q13.33-21.3(chr3:121925147-126782249)x1	LOC129937447, LOC129937448 +214 more	Copy number loss	See cases	GPathogenic
Select item 2328506	NM_002213.5(ITGB5):c.2357C>T (p.Thr786Ile)	ITGB5 (T633I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2292073	NM_002213.5(ITGB5):c.2293C>T (p.Arg765Cys)	ITGB5 (R657C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3111484	NM_002213.5(ITGB5):c.2290G>A (p.Ala764Thr)	ITGB5 (A656T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3111483	NM_002213.5(ITGB5):c.2278G>A (p.Glu760Lys)	ITGB5 (E607K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2246755	NM_002213.5(ITGB5):c.2277C>A (p.Ser759Arg)	ITGB5 (S606R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2368689	NM_002213.5(ITGB5):c.2158G>A (p.Ala720Thr)	ITGB5 (A612T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3111482	NM_002213.5(ITGB5):c.2150C>G (p.Thr717Ser)	ITGB5 (T564S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2489138	NM_002213.5(ITGB5):c.1953A>T (p.Lys651Asn)	ITGB5 (K543N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2240319	NM_002213.5(ITGB5):c.1724A>G (p.Lys575Arg)	ITGB5 (K422R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3111480	NM_002213.5(ITGB5):c.1714G>A (p.Gly572Arg)	ITGB5 (G572R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3111479	NM_002213.5(ITGB5):c.1655A>G (p.Asn552Ser)	ITGB5 (N552S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3111478	NM_002213.5(ITGB5):c.1574G>A (p.Arg525His)	ITGB5 (R372H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2286706	NM_002213.5(ITGB5):c.1568G>A (p.Ser523Asn)	ITGB5 (S523N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3111477	NM_002213.5(ITGB5):c.1540C>T (p.Arg514Trp)	ITGB5 (R361W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3286858	NM_002213.5(ITGB5):c.1508G>C (p.Gly503Ala)	ITGB5 (G503A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2325456	NM_002213.5(ITGB5):c.1495G>A (p.Glu499Lys)	ITGB5 (E391K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3111476	NM_002213.5(ITGB5):c.1348C>T (p.Arg450Trp)	ITGB5 (R342W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2214544	NM_002213.5(ITGB5):c.1339G>A (p.Val447Met)	ITGB5 (V447M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2234593	NM_002213.5(ITGB5):c.1305C>G (p.Ser435Arg)	ITGB5 (S282R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3111475	NM_002213.5(ITGB5):c.1283T>C (p.Leu428Ser)	ITGB5 (L428S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2384652	NM_002213.5(ITGB5):c.1253T>C (p.Ile418Thr)	ITGB5 (I418T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3111473	NM_002213.5(ITGB5):c.1136G>A (p.Arg379Gln)	ITGB5 (R271Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3111472	NM_002213.5(ITGB5):c.1099A>G (p.Ile367Val)	ITGB5 (I259V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2525704	NM_002213.5(ITGB5):c.1085G>A (p.Gly362Glu)	ITGB5 (G254E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2465136	NM_002213.5(ITGB5):c.1003T>G (p.Phe335Val)	ITGB5 (F227V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2218079	NM_002213.5(ITGB5):c.978G>T (p.Leu326Phe)	ITGB5 (L218F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2249542	NM_002213.5(ITGB5):c.972G>C (p.Glu324Asp)	ITGB5 (E324D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2525881	NM_002213.5(ITGB5):c.889G>A (p.Asp297Asn)	ITGB5 (D189N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2238045	NM_002213.5(ITGB5):c.745G>T (p.Gly249Cys)	ITGB5 (G249C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 587544	NM_002213.5(ITGB5):c.721C>T (p.Arg241Trp)	ITGB5 (R241W +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3111490	NM_002213.5(ITGB5):c.675C>G (p.Asp225Glu)	ITGB5 (D117E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2411573	NM_002213.5(ITGB5):c.652C>T (p.Arg218Cys)	ITGB5 (R218C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3111489	NM_002213.5(ITGB5):c.647G>A (p.Gly216Glu)	ITGB5 (G108E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2512269	NM_002213.5(ITGB5):c.602C>T (p.Pro201Leu)	ITGB5 (P201L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3286855	NM_002213.5(ITGB5):c.583C>T (p.Pro195Ser)	ITGB5 (P87S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2346726	NM_002213.5(ITGB5):c.560T>C (p.Ile187Thr)	ITGB5 (I79T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2261162	NM_002213.5(ITGB5):c.557A>G (p.Asp186Gly)	ITGB5 (D78G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3286856	NM_002213.5(ITGB5):c.527G>A (p.Arg176Gln)	ITGB5 (R176Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3111488	NM_002213.5(ITGB5):c.526C>T (p.Arg176Trp)	ITGB5 (R176W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3111487	NM_002213.5(ITGB5):c.473G>A (p.Arg158Gln)	ITGB5 (R50Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3286857	NM_002213.5(ITGB5):c.467A>G (p.Asn156Ser)	ITGB5 (N48S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 770890	NM_002213.5(ITGB5):c.420G>A (p.Leu140=)	ITGB5	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2608192	NM_002213.5(ITGB5):c.403G>A (p.Asp135Asn)	ITGB5 (D27N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3111486	NM_002213.5(ITGB5):c.368A>T (p.Lys123Met)	ITGB5 (K123M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2323492	NM_002213.5(ITGB5):c.356G>A (p.Arg119Gln)	ITGB5 (R119Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3111485	NM_002213.5(ITGB5):c.329C>T (p.Thr110Ile)	ITGB5 (T110I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2243500	NM_002213.5(ITGB5):c.260A>C (p.His87Pro)	ITGB5 (H87P)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2654088	NM_002213.5(ITGB5):c.238G>C (p.Glu80Gln)	ITGB5 (E80Q)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 3111481	NM_002213.5(ITGB5):c.182C>T (p.Thr61Ile)	ITGB5 (T61I)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2275772	NM_002213.5(ITGB5):c.163G>A (p.Gly55Arg)	ITGB5 (G55R)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3111474	NM_002213.5(ITGB5):c.114A>T (p.Glu38Asp)	ITGB5 (E38D)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2203999	NM_002213.5(ITGB5):c.97G>T (p.Ala33Ser)	ITGB5 (A33S)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3062736	GRCh37/hg19 3q21.2-21.3(chr3:124119718-127457671)x1	ABTB1, ALDH1L1 +26 more	Copy number loss	not specified	GUncertain significance
Select item 2427161	NC_000003.11:g.(?_123003455)_(125313644_?)dup	ADCY5, CCDC14 +12 more	Duplication	Aortic aneurysm, familial thoracic 7	GUncertain significance
Select item 2423002	NC_000003.11:g.(?_121489192)_(125313644_?)dup	CSTA, ADCY5 +32 more	Duplication	Familial hypocalciuric hypercalcemia +1 more	GUncertain significance
Select item 1807815	GRCh37/hg19 3q13.31-26.31(chr3:116620308-172042292)x3	A4GNT, AADAC +303 more	Copy number gain	not provided	GPathogenic
Select item 1452099	NC_000003.11:g.(?_120365818)_(133465047_?)del	ABTB1, ACAD11 +109 more	Deletion	Alkaptonuria	GPathogenic
Select item 1183991	Single allele	ABTB1, ACAD9 +59 more	Deletion	Deafness-lymphedema-leukemia syndrome +1 more	GPathogenic
Select item 1183989	Single allele	ABTB1, ADCY5 +69 more	Deletion	Deafness-lymphedema-leukemia syndrome +1 more	GPathogenic
Select item 625698	GRCh37/hg19 3q21.2-21.3(chr3:124369671-126423192)	ALDH1L1, C3orf22 +19 more	Copy number loss	not provided	GLikely pathogenic
Select item 562814	GRCh37/hg19 3q21.1-21.2(chr3:122698091-125036994)x1	HEG1, SEMA5B +13 more	Copy number loss	not provided	GUncertain significance
Select item 442401	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3	HHLA2, HIGD1A +1054 more	Copy number gain	See cases	GPathogenic
Select item 442400	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)	A4GNT, AADAC +1054 more	Copy number gain	See cases	GPathogenic

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Items: 71