"GeneDx"[submitter] AND "ITGB4"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59610	GRCh38/hg38 17q25.1(chr17:75636351-75970744)x1	ACOX1, FBF1 +49 more	Copy number loss	See cases	GPathogenic
Select item 1809938	NM_000213.5(ITGB4):c.10C>T (p.Pro4Ser)	ITGB4 (P4S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1227767	NM_000213.5(ITGB4):c.79+38A>G	ITGB4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1213467	NM_000213.5(ITGB4):c.80-205G>A	ITGB4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1229138	NM_000213.5(ITGB4):c.80-36G>A	ITGB4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1226267	NM_000213.5(ITGB4):c.163-30=	ITGB4	Deletion (intron variant)	not provided	GBenign
Select item 450544	NM_000213.5(ITGB4):c.175_207del (p.Arg59_Ala69del)	ITGB4	Deletion (inframe_deletion)	not provided	GPathogenic
Select item 14734	NM_000213.5(ITGB4):c.182G>A (p.Cys61Tyr)	ITGB4 (C61Y)	Single nucleotide variant (missense variant)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 2430896	NM_000213.5(ITGB4):c.308C>T (p.Pro103Leu)	ITGB4 (P103L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 890397	NM_000213.5(ITGB4):c.346C>T (p.Arg116Trp)	ITGB4 (R116W)	Single nucleotide variant (missense variant)	Epidermolysis bullosa, junctional 5A, intermediate +2 more	GUncertain significance
Select item 325123	NM_000213.5(ITGB4):c.513T>C (p.Phe171=)	ITGB4	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 1199656	NM_000213.5(ITGB4):c.566+129_566+130insAAG	ITGB4	Insertion (intron variant)	not provided	GLikely benign
Select item 1230570	NM_000213.5(ITGB4):c.566+249C>T	ITGB4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1271356	NM_000213.5(ITGB4):c.567-90dup	ITGB4	Duplication (intron variant)	not provided	GBenign
Select item 1226196	NM_000213.5(ITGB4):c.567-90del	ITGB4	Deletion (intron variant)	not provided	GBenign
Select item 1205528	NM_000213.5(ITGB4):c.567-99_567-98insG	ITGB4	Insertion (intron variant)	not provided	GLikely benign
Select item 1243245	NM_000213.5(ITGB4):c.567-48C>T	ITGB4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1291161	NM_000213.5(ITGB4):c.567-45C>T	ITGB4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1291162	NM_000213.5(ITGB4):c.567-42C>G	ITGB4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 279814	NM_000213.5(ITGB4):c.600dup (p.Phe201fs)	ITGB4 (F201fs)	Duplication (frameshift variant)	not provided +2 more	GPathogenic
Select item 450543	NM_000213.5(ITGB4):c.599C>A (p.Pro200His)	ITGB4 (P200H)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 325124	NM_000213.5(ITGB4):c.702C>T (p.Gly234=)	ITGB4	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 1207991	NM_000213.5(ITGB4):c.739-80G>A	ITGB4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1707293	NM_000213.5(ITGB4):c.739-59C>T	ITGB4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 372944	NM_000213.5(ITGB4):c.755G>T (p.Arg252Leu)	ITGB4 (R252L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2576774	NM_000213.5(ITGB4):c.884_885del (p.Thr295fs)	ITGB4 (T295fs)	Deletion (frameshift variant)	not provided	GPathogenic/Likely pathogenic
Select item 3252890	NM_000213.5(ITGB4):c.950ACA[1] (p.Asn318del)	ITGB4 (N318del)	Microsatellite (inframe_deletion)	not provided	GLikely pathogenic
Select item 325129	NM_000213.5(ITGB4):c.1056G>A (p.Ser352=)	ITGB4	Single nucleotide variant (synonymous variant)	Junctional epidermolysis bullosa with pyloric atresia +1 more	GBenign/Likely benign
Select item 325135	NM_000213.5(ITGB4):c.1201C>T (p.Arg401Trp)	ITGB4 (R401W)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 2186367	NM_000213.5(ITGB4):c.1205G>A (p.Arg402Gln)	ITGB4 (R402Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1193059	NM_000213.5(ITGB4):c.1215+5G>A	ITGB4	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2505622	NM_000213.5(ITGB4):c.1234dup (p.Leu412fs)	ITGB4 (L412fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 2731781	NM_000213.5(ITGB4):c.1284G>T (p.Glu428Asp)	ITGB4 (E428D)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 3366278	NM_000213.5(ITGB4):c.1412A>G (p.Asn471Ser)	ITGB4 (N471S)	Single nucleotide variant (missense variant)	Focal segmental glomerulosclerosis +1 more	GUncertain significance
Select item 325141	NM_000213.5(ITGB4):c.1434G>T (p.Gln478His)	ITGB4 (Q478H)	Single nucleotide variant (missense variant)	Junctional epidermolysis bullosa with pyloric atresia +1 more	GBenign/Likely benign
Select item 1227357	NM_000213.5(ITGB4):c.1455-278C>T	ITGB4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1178302	NM_000213.5(ITGB4):c.1455-126C>A	ITGB4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1276185	NM_000213.5(ITGB4):c.1455-94dup	ITGB4	Duplication (intron variant)	not provided	GBenign
Select item 890463	NM_000213.5(ITGB4):c.1544G>A (p.Arg515His)	ITGB4 (R515H)	Single nucleotide variant (missense variant)	Junctional epidermolysis bullosa with pyloric atresia +1 more	GBenign
Select item 1223948	NM_000213.5(ITGB4):c.1658-153T>A	ITGB4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1275545	NM_000213.5(ITGB4):c.1658-107C>T	ITGB4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1288581	NM_000213.5(ITGB4):c.1658-87T>C	ITGB4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 325147	NM_000213.5(ITGB4):c.1666C>T (p.Arg556Cys)	ITGB4 (R556C)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 325151	NM_000213.5(ITGB4):c.1821G>A (p.Ser607=)	ITGB4	Single nucleotide variant (synonymous variant)	Junctional epidermolysis bullosa with pyloric atresia +1 more	GBenign
Select item 1243647	NM_000213.5(ITGB4):c.1860+55T>G	ITGB4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 325153	NM_000213.5(ITGB4):c.1893C>G (p.Ser631=)	ITGB4	Single nucleotide variant (synonymous variant)	Junctional epidermolysis bullosa with pyloric atresia +1 more	GBenign
Select item 891026	NM_000213.5(ITGB4):c.1936C>T (p.Arg646Cys)	ITGB4 (R646C)	Single nucleotide variant (missense variant)	Junctional epidermolysis bullosa with pyloric atresia +1 more	GUncertain significance
Select item 1241335	NM_000213.5(ITGB4):c.1990+35A>C	ITGB4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1280712	NM_000213.5(ITGB4):c.1990+288A>C	ITGB4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1706947	NM_000213.5(ITGB4):c.1991-155G>A	ITGB4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1265619	NM_000213.5(ITGB4):c.1991-88G>C	ITGB4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 729205	NM_000213.5(ITGB4):c.2115C>A (p.Asp705Glu)	ITGB4 (D705E)	Single nucleotide variant (missense variant)	Junctional epidermolysis bullosa with pyloric atresia +1 more	GBenign/Likely benign
Select item 325161	NM_000213.5(ITGB4):c.2207G>T (p.Cys736Phe)	ITGB4 (C736F)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 1232661	NM_000213.5(ITGB4):c.2220+209A>G	ITGB4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1269389	NM_000213.5(ITGB4):c.2220+317T>C	ITGB4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1723026	NM_000213.5(ITGB4):c.2254+1G>T	ITGB4	Single nucleotide variant (splice donor variant)	not provided	GPathogenic/Likely pathogenic
Select item 1178059	NM_000213.5(ITGB4):c.2255-41G>A	ITGB4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1243645	NM_000213.5(ITGB4):c.2447-127G>C	ITGB4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2136004	NM_000213.5(ITGB4):c.2468G>T (p.Arg823Leu)	ITGB4 (R823L)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2504794	NM_000213.5(ITGB4):c.2521G>A (p.Ala841Thr)	ITGB4 (A841T)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 1291795	NM_000213.5(ITGB4):c.2551-134G>C	ITGB4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1186249	NM_000213.5(ITGB4):c.2551-127G>A	ITGB4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1878690	NM_000213.5(ITGB4):c.2591T>C (p.Leu864Pro)	ITGB4 (L864P)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1205154	NM_000213.5(ITGB4):c.2633+284G>A	ITGB4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1214018	NM_000213.5(ITGB4):c.2634-315G>T	ITGB4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 890541	NM_000213.5(ITGB4):c.2638G>A (p.Asp880Asn)	ITGB4 (D880N)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 891107	NM_000213.5(ITGB4):c.2701C>T (p.Leu901Phe)	ITGB4 (L901F)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 325167	NM_000213.5(ITGB4):c.2730C>T (p.Ala910=)	ITGB4	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 1249542	NM_000213.5(ITGB4):c.2782+45T>C	ITGB4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 325169	NM_000213.5(ITGB4):c.2784C>T (p.Asp928=)	ITGB4	Single nucleotide variant (synonymous variant)	Junctional epidermolysis bullosa with pyloric atresia +1 more	GConflicting classifications of pathogenicity
Select item 325172	NM_000213.5(ITGB4):c.2929C>T (p.Arg977Cys)	ITGB4 (R977C)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 1289272	NM_000213.5(ITGB4):c.2962+135T>C	ITGB4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1287024	NM_000213.5(ITGB4):c.2962+279A>G	ITGB4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1286272	NM_000213.5(ITGB4):c.2963-189C>T	ITGB4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1203314	NM_000213.5(ITGB4):c.2963-79T>C	ITGB4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1275386	NM_000213.5(ITGB4):c.3111+276dup	ITGB4	Duplication (intron variant)	not provided	GBenign
Select item 1278888	NM_000213.5(ITGB4):c.3111+275_3111+276del	ITGB4	Deletion (intron variant)	not provided	GBenign
Select item 1236468	NM_000213.5(ITGB4):c.3111+276del	ITGB4	Deletion (intron variant)	not provided	GBenign
Select item 1348122	NM_000213.5(ITGB4):c.3221G>A (p.Arg1074His)	ITGB4 (R1074H)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 1712777	NM_000213.5(ITGB4):c.3265G>C (p.Gly1089Arg)	ITGB4 (G1089R)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 1190699	NM_000213.5(ITGB4):c.3317-304T>C	ITGB4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1267083	NM_000213.5(ITGB4):c.3317-293T>C	ITGB4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1291164	NM_000213.5(ITGB4):c.3317-46T>C	ITGB4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1048067	NM_000213.5(ITGB4):c.3321_3331del (p.Asp1109fs)	ITGB4 (D1109fs)	Deletion (frameshift variant)	Junctional epidermolysis bullosa with pyloric atresia +2 more	GPathogenic
Select item 1250597	NM_000213.5(ITGB4):c.3474+21T>C	ITGB4	Single nucleotide variant (intron variant)	not provided +3 more	GBenign
Select item 1230107	NM_000213.5(ITGB4):c.3474+78A>G	ITGB4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1215971	NM_000213.5(ITGB4):c.3475-183C>G	ITGB4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1286436	NM_000213.5(ITGB4):c.3475-114T>C	ITGB4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1338892	NM_000213.5(ITGB4):c.3656-35C>G	ITGB4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 325183	NM_000213.5(ITGB4):c.3729G>A (p.Pro1243=)	ITGB4	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 279813	NM_000213.5(ITGB4):c.3793+2dup	ITGB4	Duplication (splice donor variant)	not provided	GPathogenic
Select item 14736	NM_000213.5(ITGB4):c.3793+1G>A	ITGB4	Single nucleotide variant (splice donor variant)	Junctional epidermolysis bullosa with pyloric atresia +1 more	GPathogenic
Select item 1215254	NM_000213.5(ITGB4):c.3794-274A>G	GALK1, ITGB4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1287294	NM_000213.5(ITGB4):c.3794-147C>T	GALK1, ITGB4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1800870	NM_000213.5(ITGB4):c.3810G>A (p.Met1270Ile)	GALK1, ITGB4 (M1270I)	Single nucleotide variant (missense variant +1 more)	not provided	GConflicting classifications of pathogenicity
Select item 14742	NM_000213.5(ITGB4):c.3841C>T (p.Arg1281Trp)	GALK1, ITGB4 (R1281W)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 325186	NM_000213.5(ITGB4):c.3861C>T (p.Asn1287=)	GALK1, ITGB4	Single nucleotide variant (synonymous variant)	Junctional epidermolysis bullosa with pyloric atresia +1 more	GBenign/Likely benign
Select item 2663083	NM_000213.5(ITGB4):c.3913G>A (p.Gly1305Ser)	GALK1, ITGB4 (G1305S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 325187	NM_000213.5(ITGB4):c.3976+15G>C	ITGB4, GALK1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 421955	NM_000213.5(ITGB4):c.3977-30_3977-17del	GALK1, ITGB4	Deletion (intron variant)	not provided	GConflicting classifications of pathogenicity

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