ITGB4[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58703	GRCh38/hg38 17q24.3-25.3(chr17:69209079-83086677)x3	MIR636, MIR6516 +1033 more	Copy number gain	See cases	GPathogenic
Select item 155275	GRCh38/hg38 17q24.3-25.3(chr17:69916435-83102552)x3	AANAT, AATK +1013 more	Copy number gain	See cases	GPathogenic
Select item 59610	GRCh38/hg38 17q25.1(chr17:75636351-75970744)x1	ACOX1, FBF1 +49 more	Copy number loss	See cases	GPathogenic
Select item 888689	NM_000213.5(ITGB4):c.-159A>C	ITGB4	Single nucleotide variant (5 prime UTR variant)	Junctional epidermolysis bullosa with pyloric atresia	GUncertain significance
Select item 325118	NM_000213.5(ITGB4):c.-125G>C	ITGB4	Single nucleotide variant (5 prime UTR variant)	Junctional epidermolysis bullosa with pyloric atresia +1 more	GConflicting classifications of pathogenicity
Select item 325119	NM_000213.5(ITGB4):c.-68C>T	ITGB4	Single nucleotide variant (5 prime UTR variant)	Junctional epidermolysis bullosa with pyloric atresia	GUncertain significance
Select item 325120	NM_000213.5(ITGB4):c.-23T>C	ITGB4	Single nucleotide variant (5 prime UTR variant +1 more)	Junctional epidermolysis bullosa with pyloric atresia	GUncertain significance
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 2082583	NM_000213.5(ITGB4):c.14G>A (p.Arg5His)	ITGB4 (R5H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2790494	NM_000213.5(ITGB4):c.15C>T (p.Arg5=)	ITGB4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2694300	NM_000213.5(ITGB4):c.26G>A (p.Trp9Ter)	ITGB4 (W9*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 716466	NM_000213.5(ITGB4):c.34C>T (p.Leu12=)	ITGB4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1919456	NM_000213.5(ITGB4):c.43G>A (p.Ala15Thr)	ITGB4 (A15T)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2782778	NM_000213.5(ITGB4):c.49T>C (p.Leu17=)	ITGB4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2721590	NM_000213.5(ITGB4):c.57C>T (p.Ser19=)	ITGB4	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2893729	NM_000213.5(ITGB4):c.60C>T (p.Val20=)	ITGB4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2899142	NM_000213.5(ITGB4):c.69T>C (p.Ser23=)	ITGB4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3013932	NM_000213.5(ITGB4):c.75C>G (p.Thr25=)	ITGB4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2876804	NM_000213.5(ITGB4):c.79+1G>A	ITGB4	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 2776251	NM_000213.5(ITGB4):c.79+6T>C	ITGB4	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2902891	NM_000213.5(ITGB4):c.79+10C>T	ITGB4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2871288	NM_000213.5(ITGB4):c.79+11G>A	ITGB4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3002805	NM_000213.5(ITGB4):c.79+17C>T	ITGB4	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 2840710	NM_000213.5(ITGB4):c.80-20G>A	ITGB4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3008505	NM_000213.5(ITGB4):c.80-17C>T	ITGB4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3008253	NM_000213.5(ITGB4):c.80-8C>T	ITGB4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2853035	NM_000213.5(ITGB4):c.80-3del	ITGB4	Deletion (intron variant)	not provided	GBenign
Select item 2241149	NM_000213.5(ITGB4):c.85C>T (p.Arg29Cys)	ITGB4 (R29C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 888690	NM_000213.5(ITGB4):c.93G>C (p.Lys31Asn)	ITGB4 (K31N)	Single nucleotide variant (missense variant)	Junctional epidermolysis bullosa with pyloric atresia	GUncertain significance
Select item 2616610	NM_000213.5(ITGB4):c.97G>A (p.Ala33Thr)	ITGB4 (A33T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2961862	NM_000213.5(ITGB4):c.99C>T (p.Ala33=)	ITGB4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2977102	NM_000213.5(ITGB4):c.107del (p.Lys36fs)	ITGB4 (K36fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2540132	NM_000213.5(ITGB4):c.110G>T (p.Ser37Ile)	ITGB4 (S37I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3006970	NM_000213.5(ITGB4):c.111C>T (p.Ser37=)	ITGB4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 14738	NM_000213.5(ITGB4):c.112T>C (p.Cys38Arg)	ITGB4 (C38R)	Single nucleotide variant (missense variant)	Junctional epidermolysis bullosa with pyloric atresia	GPathogenic
Select item 2736772	NM_000213.5(ITGB4):c.114C>T (p.Cys38=)	ITGB4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2792351	NM_000213.5(ITGB4):c.117G>A (p.Thr39=)	ITGB4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2966487	NM_000213.5(ITGB4):c.132G>C (p.Val44=)	ITGB4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 741064	NM_000213.5(ITGB4):c.144C>T (p.Cys48=)	ITGB4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3015413	NM_000213.5(ITGB4):c.147C>T (p.Ala49=)	ITGB4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3001906	NM_000213.5(ITGB4):c.150C>T (p.Tyr50=)	ITGB4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2959739	NM_000213.5(ITGB4):c.159C>T (p.Asp53=)	ITGB4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2961546	NM_000213.5(ITGB4):c.162+8C>T	ITGB4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2164248	NM_000213.5(ITGB4):c.162+8C>A	ITGB4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 888691	NM_000213.5(ITGB4):c.162+9C>T	ITGB4	Single nucleotide variant (intron variant)	Junctional epidermolysis bullosa with pyloric atresia +1 more	GConflicting classifications of pathogenicity
Select item 2993494	NM_000213.5(ITGB4):c.162+15C>T	ITGB4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2985583	NM_000213.5(ITGB4):c.162+16G>A	ITGB4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1226267	NM_000213.5(ITGB4):c.163-30=	ITGB4	Deletion (intron variant)	not provided	GBenign
Select item 2761297	NM_000213.5(ITGB4):c.163-18C>T	ITGB4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2868097	NM_000213.5(ITGB4):c.163-17C>G	ITGB4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2830777	NM_000213.5(ITGB4):c.163-16C>T	ITGB4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2778629	NM_000213.5(ITGB4):c.163-16_163-15del	ITGB4	Deletion (intron variant)	not provided	GLikely benign
Select item 2840460	NM_000213.5(ITGB4):c.163-15T>C	ITGB4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2793201	NM_000213.5(ITGB4):c.163-14G>T	ITGB4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2798544	NM_000213.5(ITGB4):c.163-5G>A	ITGB4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2954714	NM_000213.5(ITGB4):c.163-4C>G	ITGB4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 450544	NM_000213.5(ITGB4):c.175_207del (p.Arg59_Ala69del)	ITGB4	Deletion (inframe_deletion)	not provided	GPathogenic
Select item 2899557	NM_000213.5(ITGB4):c.175C>T (p.Arg59Trp)	ITGB4 (R59W)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2768952	NM_000213.5(ITGB4):c.177G>A (p.Arg59=)	ITGB4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2736646	NM_000213.5(ITGB4):c.178C>T (p.Arg60Cys)	ITGB4 (R60C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2582375	NM_000213.5(ITGB4):c.179G>A (p.Arg60His)	ITGB4 (R60H)	Single nucleotide variant (missense variant)	Epidermolysis bullosa, junctional 5A, intermediate +1 more	GUncertain significance
Select item 2795180	NM_000213.5(ITGB4):c.180C>A (p.Arg60=)	ITGB4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2349947	NM_000213.5(ITGB4):c.194C>T (p.Ala65Val)	ITGB4 (A65V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2959197	NM_000213.5(ITGB4):c.195G>A (p.Ala65=)	ITGB4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1640214	NM_000213.5(ITGB4):c.198G>A (p.Glu66=)	ITGB4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2841420	NM_000213.5(ITGB4):c.201G>C (p.Leu67=)	ITGB4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2703420	NM_000213.5(ITGB4):c.202C>T (p.Leu68=)	ITGB4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2974362	NM_000213.5(ITGB4):c.207C>T (p.Ala69=)	ITGB4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2696609	NM_000213.5(ITGB4):c.209del (p.Ala70fs)	ITGB4 (A70fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 325121	NM_000213.5(ITGB4):c.210G>A (p.Ala70=)	ITGB4	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2736647	NM_000213.5(ITGB4):c.217C>T (p.Gln73Ter)	ITGB4 (Q73*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2146557	NM_000213.5(ITGB4):c.220C>T (p.Arg74Trp)	ITGB4 (R74W)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2803348	NM_000213.5(ITGB4):c.225G>A (p.Glu75=)	ITGB4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2886727	NM_000213.5(ITGB4):c.231C>T (p.Ile77=)	ITGB4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2168660	NM_000213.5(ITGB4):c.232G>A (p.Val78Met)	ITGB4 (V78M)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2792611	NM_000213.5(ITGB4):c.237C>A (p.Val79=)	ITGB4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1912939	NM_000213.5(ITGB4):c.243G>A (p.Glu81=)	ITGB4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2819888	NM_000213.5(ITGB4):c.256del (p.Ile86fs)	ITGB4 (I86fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2781283	NM_000213.5(ITGB4):c.264+7G>A	ITGB4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2982439	NM_000213.5(ITGB4):c.264+8G>C	ITGB4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2820953	NM_000213.5(ITGB4):c.264+8G>A	ITGB4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2957614	NM_000213.5(ITGB4):c.264+18T>C	ITGB4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2981031	NM_000213.5(ITGB4):c.264+22del	ITGB4	Deletion (intron variant)	not provided	GBenign
Select item 2792057	NM_000213.5(ITGB4):c.264+19G>A	ITGB4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2963407	NM_000213.5(ITGB4):c.265-18C>T	ITGB4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3011842	NM_000213.5(ITGB4):c.265-16C>A	ITGB4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2031962	NM_000213.5(ITGB4):c.265-16C>G	ITGB4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2965233	NM_000213.5(ITGB4):c.265-14T>A	ITGB4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2788512	NM_000213.5(ITGB4):c.265-14T>C	ITGB4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2800763	NM_000213.5(ITGB4):c.265-12C>T	ITGB4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2893143	NM_000213.5(ITGB4):c.265-10C>T	ITGB4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2855350	NM_000213.5(ITGB4):c.265-7G>A	ITGB4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2730070	NM_000213.5(ITGB4):c.265-2A>G	ITGB4	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 2873997	NM_000213.5(ITGB4):c.268del (p.Thr90fs)	ITGB4 (T90fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 325122	NM_000213.5(ITGB4):c.282C>T (p.Thr94=)	ITGB4	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 3017198	NM_000213.5(ITGB4):c.285C>T (p.Thr95=)	ITGB4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign

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