itga3[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 148363	GRCh38/hg38 17q23.1-25.1(chr17:36449220-75053130)x3	ABCA10, ADAM11 +2032 more	Copy number gain	See cases	GPathogenic
Select item 57282	GRCh38/hg38 17q21.33-24.2(chr17:36449220-68170214)x3	LOC130060795, LOC130060796 +1753 more	Copy number gain	See cases	GPathogenic
Select item 59589	GRCh38/hg38 17q21.32-22(chr17:49137864-52147810)x1	ABCC3, ABI3 +203 more	Copy number loss	See cases	GPathogenic
Select item 151158	GRCh38/hg38 17q21.33(chr17:49361155-50269440)x1	COL1A1, DLX3 +74 more	Copy number loss	See cases	GPathogenic
Select item 59590	GRCh38/hg38 17q21.33-22(chr17:49974533-56807609)x1	ABCC3, ACSF2 +196 more	Copy number loss	See cases	GPathogenic
Select item 1232560	NC_000017.11:g.50055728AGC[5]	ITGA3, PICART1	Microsatellite	not provided	GBenign
Select item 1266986	NC_000017.11:g.50055746_50055748dup	ITGA3	Duplication	not provided	GBenign
Select item 1234612	NC_000017.11:g.50055923del	ITGA3	Deletion	not provided	GBenign
Select item 1245724	NC_000017.11:g.50055949A>C	ITGA3	Single nucleotide variant	not provided	GBenign
Select item 1219843	NC_000017.11:g.50056003G>A	ITGA3	Single nucleotide variant	not provided	GLikely benign
Select item 1253387	NC_000017.11:g.50056099G>C	ITGA3, LOC130061140	Single nucleotide variant (genic upstream transcript variant)	not provided	GBenign
Select item 1179289	NM_002204.4(ITGA3):c.-148G>A	ITGA3	Single nucleotide variant (5 prime UTR variant)	not provided	GLikely benign
Select item 2896660	NM_002204.4(ITGA3):c.6C>T (p.Gly2=)	ITGA3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2855682	NM_002204.4(ITGA3):c.24G>A (p.Ala8=)	ITGA3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2329873	NM_002204.4(ITGA3):c.37C>A (p.Arg13Ser)	ITGA3 (R13S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2005508	NM_002204.4(ITGA3):c.77G>C (p.Gly26Ala)	ITGA3 (G26A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 717271	NM_002204.4(ITGA3):c.84C>T (p.Cys28=)	ITGA3	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2400151	NM_002204.4(ITGA3):c.85G>A (p.Val29Ile)	ITGA3 (V29I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2631334	NM_002204.4(ITGA3):c.106G>T (p.Asp36Tyr)	ITGA3 (D36Y)	Single nucleotide variant (missense variant)	ITGA3-related condition	GUncertain significance
Select item 2117296	NM_002204.4(ITGA3):c.132G>T (p.Glu44Asp)	ITGA3 (E44D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2893080	NM_002204.4(ITGA3):c.142C>T (p.Pro48Ser)	ITGA3 (P48S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3055210	NM_002204.4(ITGA3):c.144G>C (p.Pro48=)	ITGA3	Single nucleotide variant (synonymous variant)	ITGA3-related condition	GLikely benign
Select item 1935786	NM_002204.4(ITGA3):c.146G>A (p.Gly49Asp)	ITGA3 (G49D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2065449	NM_002204.4(ITGA3):c.204C>T (p.Tyr68=)	ITGA3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1200358	NM_002204.4(ITGA3):c.206+213T>A	ITGA3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1223770	NM_002204.4(ITGA3):c.206+281C>T	ITGA3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1242445	NM_002204.4(ITGA3):c.207-107G>A	ITGA3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1647064	NM_002204.4(ITGA3):c.207-18C>T	ITGA3	Single nucleotide variant (intron variant)	Pidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome +1 more	GBenign/Likely benign
Select item 1912176	NM_002204.4(ITGA3):c.207-15C>T	ITGA3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1902288	NM_002204.4(ITGA3):c.207-14G>A	ITGA3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 732306	NM_002204.4(ITGA3):c.222C>T (p.Ala74=)	ITGA3	Single nucleotide variant (synonymous variant)	Pidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome +1 more	GBenign/Likely benign
Select item 3007376	NM_002204.4(ITGA3):c.225C>T (p.Pro75=)	ITGA3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1975951	NM_002204.4(ITGA3):c.225C>A (p.Pro75=)	ITGA3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2514406	NM_002204.4(ITGA3):c.226C>T (p.Arg76Trp)	ITGA3 (R76W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2048565	NM_002204.4(ITGA3):c.227G>A (p.Arg76Gln)	ITGA3 (R76Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1900209	NM_002204.4(ITGA3):c.231G>A (p.Glu77=)	ITGA3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1539287	NM_002204.4(ITGA3):c.234C>T (p.Leu78=)	ITGA3	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 2127941	NM_002204.4(ITGA3):c.240dup (p.Pro81fs)	ITGA3, LOC126862584 (P81fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 2182277	NM_002204.4(ITGA3):c.243C>T (p.Pro81=)	ITGA3, LOC126862584	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2508562	NM_002204.4(ITGA3):c.244G>A (p.Asp82Asn)	ITGA3, LOC126862584 (D82N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2064934	NM_002204.4(ITGA3):c.246T>C (p.Asp82=)	ITGA3, LOC126862584	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1944093	NM_002204.4(ITGA3):c.286C>G (p.Leu96Val)	ITGA3, LOC126862584 (L96V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2291246	NM_002204.4(ITGA3):c.317T>A (p.Met106Lys)	ITGA3, LOC126862584 (M106K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1942678	NM_002204.4(ITGA3):c.321C>T (p.Asn107=)	ITGA3, LOC126862584	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1202007	NM_002204.4(ITGA3):c.334+98C>T	ITGA3, LOC126862584	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1199994	NM_002204.4(ITGA3):c.334+150T>C	ITGA3, LOC126862584	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1215773	NM_002204.4(ITGA3):c.335-161G>A	ITGA3, LOC126862584	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1253863	NM_002204.4(ITGA3):c.335-30T>A	ITGA3, LOC126862584	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2959180	NM_002204.4(ITGA3):c.335-18T>C	ITGA3, LOC126862584	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2478437	NM_002204.4(ITGA3):c.389G>A (p.Ser130Asn)	ITGA3, LOC126862584 (S130N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2182715	NM_002204.4(ITGA3):c.394G>A (p.Gly132Ser)	ITGA3, LOC126862584 (G132S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 784360	NM_002204.4(ITGA3):c.399T>C (p.Pro133=)	ITGA3, LOC126862584	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 1244792	NM_002204.4(ITGA3):c.414+38C>T	ITGA3, LOC126862584	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1254791	NM_002204.4(ITGA3):c.414+89G>A	ITGA3, LOC126862584	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1253572	NM_002204.4(ITGA3):c.415-326C>T	ITGA3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1230802	NM_002204.4(ITGA3):c.415-151G>A	ITGA3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1904803	NM_002204.4(ITGA3):c.415-19G>A	ITGA3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2315900	NM_002204.4(ITGA3):c.427C>T (p.Arg143Cys)	ITGA3 (R143C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2279612	NM_002204.4(ITGA3):c.434C>T (p.Thr145Ile)	ITGA3 (T145I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2284226	NM_002204.4(ITGA3):c.466C>T (p.Arg156Trp)	ITGA3 (R156W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2187431	NM_002204.4(ITGA3):c.470G>A (p.Arg157His)	ITGA3 (R157H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2884823	NM_002204.4(ITGA3):c.489C>T (p.Tyr163=)	ITGA3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1305507	NM_002204.4(ITGA3):c.547G>A (p.Glu183Lys)	ITGA3 (E183K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2374832	NM_002204.4(ITGA3):c.556A>G (p.Asn186Asp)	ITGA3 (N186D)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2553088	NM_002204.4(ITGA3):c.583G>A (p.Gly195Ser)	ITGA3 (G195S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 598269	NM_002204.4(ITGA3):c.607G>A (p.Gly203Ser)	ITGA3 (G203S)	Single nucleotide variant (missense variant)	Pidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome +1 more	GUncertain significance
Select item 1655437	NM_002204.4(ITGA3):c.612C>T (p.Gly204=)	ITGA3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 755740	NM_002204.4(ITGA3):c.645C>T (p.Pro215=)	ITGA3	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1439970	NM_002204.4(ITGA3):c.646G>A (p.Gly216Ser)	ITGA3 (G216S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 2954972	NM_002204.4(ITGA3):c.664+20G>C	ITGA3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1278153	NM_002204.4(ITGA3):c.664+115G>A	ITGA3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1196225	NM_002204.4(ITGA3):c.664+224C>T	ITGA3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1196092	NM_002204.4(ITGA3):c.664+237C>T	ITGA3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2131803	NM_002204.4(ITGA3):c.665-6G>T	ITGA3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2305195	NM_002204.4(ITGA3):c.674A>T (p.Tyr225Phe)	ITGA3 (Y225F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2237752	NM_002204.4(ITGA3):c.686G>A (p.Arg229His)	ITGA3 (R229H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 768897	NM_002204.4(ITGA3):c.687C>T (p.Arg229=)	ITGA3	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 2198111	NM_002204.4(ITGA3):c.725C>G (p.Pro242Arg)	ITGA3 (P242R)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1253869	NM_002204.4(ITGA3):c.751+35A>G	ITGA3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1232647	NM_002204.4(ITGA3):c.751+119G>A	ITGA3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1194522	NM_002204.4(ITGA3):c.751+128G>A	ITGA3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1268937	NM_002204.4(ITGA3):c.751+162A>C	ITGA3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 753561	NM_002204.4(ITGA3):c.759G>A (p.Thr253=)	ITGA3	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1935487	NM_002204.4(ITGA3):c.784C>T (p.His262Tyr)	ITGA3 (H262Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2011502	NM_002204.4(ITGA3):c.813T>C (p.Gly271=)	ITGA3	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2631652	NM_002204.4(ITGA3):c.826C>T (p.Arg276Ter)	ITGA3 (R276*)	Single nucleotide variant (nonsense)	ITGA3-related condition	GLikely pathogenic
Select item 2043808	NM_002204.4(ITGA3):c.837C>T (p.Gly279=)	ITGA3	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 2170996	NM_002204.4(ITGA3):c.839C>T (p.Ala280Val)	ITGA3 (A280V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 723326	NM_002204.4(ITGA3):c.840G>A (p.Ala280=)	ITGA3	Single nucleotide variant (synonymous variant)	Pidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome +1 more	GLikely benign
Select item 818042	NM_002204.4(ITGA3):c.864_867del (p.Gly289fs)	ITGA3 (G289fs)	Microsatellite (frameshift variant)	not provided	GLikely pathogenic
Select item 2166988	NM_002204.4(ITGA3):c.867C>T (p.Gly289=)	ITGA3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2541847	NM_002204.4(ITGA3):c.877C>T (p.Arg293Trp)	ITGA3 (R293W)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1921910	NM_002204.4(ITGA3):c.878G>A (p.Arg293Gln)	ITGA3 (R293Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3045792	NM_002204.4(ITGA3):c.885G>A (p.Arg295=)	ITGA3	Single nucleotide variant (synonymous variant)	ITGA3-related condition	GLikely benign
Select item 1941051	NM_002204.4(ITGA3):c.897G>A (p.Glu299=)	ITGA3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2443563	NM_002204.4(ITGA3):c.902C>T (p.Ser301Leu)	ITGA3 (S301L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2702074	NM_002204.4(ITGA3):c.927C>T (p.Ser309=)	ITGA3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 782041	NM_002204.4(ITGA3):c.929C>T (p.Ala310Val)	ITGA3 (A310V)	Single nucleotide variant (missense variant)	not provided	GBenign/Likely benign
Select item 3036535	NM_002204.4(ITGA3):c.936C>T (p.Ala312=)	ITGA3	Single nucleotide variant (synonymous variant)	ITGA3-related condition	GLikely benign
Select item 1187667	NM_002204.4(ITGA3):c.959+233G>T	ITGA3	Single nucleotide variant (intron variant)	not provided	GLikely benign

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