"GeneDx"[submitter] AND "ITGA7"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 152934	GRCh38/hg38 12q13.13-13.3(chr12:53420606-56202942)x3	PMEL, PPP1R1A +219 more	Copy number gain	See cases	GPathogenic
Select item 129297	NM_002206.3(ITGA7):c.3384C>T (p.Pro1128=)	ITGA7	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 387547	NM_002206.3(ITGA7):c.3372C>T (p.Pro1124=)	ITGA7	Single nucleotide variant (synonymous variant)	Congenital muscular dystrophy due to integrin alpha-7 deficiency +1 more	GLikely benign
Select item 507224	NM_002206.3(ITGA7):c.3363C>T (p.Asp1121=)	ITGA7	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 684476	NM_002206.3(ITGA7):c.3349A>C (p.Ile1117Leu)	ITGA7 (I1008L +13 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 569490	NM_002206.3(ITGA7):c.3299T>C (p.Leu1100Pro)	ITGA7 (L1007P +13 more)	Single nucleotide variant (missense variant)	Congenital muscular dystrophy due to integrin alpha-7 deficiency +2 more	GUncertain significance
Select item 470579	NM_002206.3(ITGA7):c.3268C>T (p.Gln1090Ter)	ITGA7 (Q997* +13 more)	Single nucleotide variant (nonsense)	not specified +2 more	GUncertain significance
Select item 851657	NM_002206.3(ITGA7):c.3253C>T (p.Arg1085Trp)	ITGA7 (R1089W +13 more)	Single nucleotide variant (missense variant)	Congenital muscular dystrophy due to integrin alpha-7 deficiency +1 more	GUncertain significance
Select item 470578	NM_002206.3(ITGA7):c.3203C>T (p.Ala1068Val)	ITGA7 (A1068V +13 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 451131	NM_002206.3(ITGA7):c.3200G>A (p.Arg1067Gln)	ITGA7 (R1067Q +13 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 94043	NM_002206.3(ITGA7):c.3184-12G>C	ITGA7	Single nucleotide variant (intron variant)	Congenital muscular dystrophy due to integrin alpha-7 deficiency +2 more	GBenign
Select item 1199498	NM_002206.3(ITGA7):c.3184-103C>T	ITGA7	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 683647	NM_002206.3(ITGA7):c.3184-286T>A	ITGA7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 677685	NM_002206.3(ITGA7):c.3183+244A>G	ITGA7	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 286339	NM_002206.3(ITGA7):c.3150G>T (p.Leu1050=)	ITGA7	Single nucleotide variant (synonymous variant)	Congenital muscular dystrophy due to integrin alpha-7 deficiency +1 more	GBenign/Likely benign
Select item 129296	NM_002206.3(ITGA7):c.3144G>C (p.Gly1048=)	ITGA7	Single nucleotide variant (synonymous variant)	Congenital muscular dystrophy due to integrin alpha-7 deficiency +2 more	GBenign
Select item 423926	NM_002206.3(ITGA7):c.3118G>T (p.Val1040Phe)	ITGA7 (V1040F +13 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1698314	NM_002206.3(ITGA7):c.3082C>T (p.Pro1028Ser)	ITGA7 (P1022S +13 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 387004	NM_002206.3(ITGA7):c.3058-6C>T	ITGA7	Single nucleotide variant (intron variant)	not specified +2 more	GBenign/Likely benign
Select item 511353	NM_002206.3(ITGA7):c.3048C>T (p.Ala1016=)	ITGA7	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 432067	NM_002206.3(ITGA7):c.3040C>T (p.Arg1014Ter)	ITGA7 (R1014* +13 more)	Single nucleotide variant (nonsense)	Congenital muscular dystrophy due to integrin alpha-7 deficiency +1 more	GConflicting classifications of pathogenicity
Select item 129295	NM_002206.3(ITGA7):c.3031T>C (p.Leu1011=)	ITGA7	Single nucleotide variant (synonymous variant)	Congenital muscular dystrophy due to integrin alpha-7 deficiency +2 more	GBenign
Select item 129294	NM_002206.3(ITGA7):c.3018C>G (p.Ser1006=)	ITGA7	Single nucleotide variant (synonymous variant)	Congenital muscular dystrophy due to integrin alpha-7 deficiency +2 more	GBenign
Select item 1001861	NM_002206.3(ITGA7):c.3002A>T (p.Asn1001Ile)	ITGA7 (N1001I +13 more)	Single nucleotide variant (missense variant)	Congenital muscular dystrophy due to integrin alpha-7 deficiency +1 more	GUncertain significance
Select item 950886	NM_002206.3(ITGA7):c.2963A>G (p.Tyr988Cys)	ITGA7 (Y540C +13 more)	Single nucleotide variant (missense variant)	Congenital muscular dystrophy due to integrin alpha-7 deficiency +1 more	GUncertain significance
Select item 678918	NM_002206.3(ITGA7):c.2959-85A>G	ITGA7	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1263284	NM_002206.3(ITGA7):c.2958+121del	ITGA7	Deletion (intron variant)	not provided	GBenign
Select item 1293505	NM_002206.3(ITGA7):c.2958+108T>C	ITGA7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 677463	NM_002206.3(ITGA7):c.2958+106_2958+107insA	ITGA7	Insertion (intron variant)	not provided	GBenign
Select item 1266633	NM_002206.3(ITGA7):c.2958+60T>C	ITGA7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 670571	NM_002206.3(ITGA7):c.2958+56G>A	ITGA7	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 389096	NM_002206.3(ITGA7):c.2958+16G>A	ITGA7	Single nucleotide variant (intron variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 509058	NM_002206.3(ITGA7):c.2946C>T (p.Ser982=)	ITGA7	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 373222	NM_002206.3(ITGA7):c.2909C>T (p.Ala970Val)	ITGA7 (A877V +13 more)	Single nucleotide variant (missense variant)	Congenital muscular dystrophy due to integrin alpha-7 deficiency +1 more	GUncertain significance
Select item 1301294	NM_002206.3(ITGA7):c.2854C>T (p.Arg952Trp)	ITGA7 (R504W +13 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 512584	NM_002206.3(ITGA7):c.2845-18G>A	ITGA7	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 682027	NM_002206.3(ITGA7):c.2845-44G>C	ITGA7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1213624	NM_002206.3(ITGA7):c.2845-319G>A	ITGA7	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 682026	NM_002206.3(ITGA7):c.2844+189G>C	ITGA7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1214393	NM_002206.3(ITGA7):c.2844+46C>T	ITGA7	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1205694	NM_002206.3(ITGA7):c.2844+36C>T	ITGA7	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 512264	NM_002206.3(ITGA7):c.2844+19C>T	ITGA7	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 1307722	NM_002206.3(ITGA7):c.2779C>T (p.Arg927Trp)	ITGA7 (R479W +13 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 242417	NM_002206.3(ITGA7):c.2740C>T (p.Arg914Trp)	ITGA7 (R914W +13 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 309781	NM_002206.3(ITGA7):c.2737C>T (p.Arg913Trp)	ITGA7 (R913W +13 more)	Single nucleotide variant (missense variant)	Congenital muscular dystrophy due to integrin alpha-7 deficiency +1 more	GBenign/Likely benign
Select item 1185969	NM_002206.3(ITGA7):c.2713-63G>T	ITGA7	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 94042	NM_002206.3(ITGA7):c.2710C>T (p.Leu904=)	ITGA7	Single nucleotide variant (synonymous variant)	Congenital muscular dystrophy due to integrin alpha-7 deficiency +2 more	GBenign
Select item 452340	NM_002206.3(ITGA7):c.2651A>T (p.Glu884Val)	ITGA7 (E791V +13 more)	Single nucleotide variant (missense variant)	Congenital muscular dystrophy due to integrin alpha-7 deficiency +1 more	GConflicting classifications of pathogenicity
Select item 94041	NM_002206.3(ITGA7):c.2644G>A (p.Glu882Lys)	ITGA7 (E857K +13 more)	Single nucleotide variant (missense variant)	Congenital muscular dystrophy due to integrin alpha-7 deficiency +2 more	GConflicting classifications of pathogenicity
Select item 510955	NM_002206.3(ITGA7):c.2628G>A (p.Leu876=)	ITGA7	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 511065	NM_002206.3(ITGA7):c.2625G>A (p.Leu875=)	ITGA7	Single nucleotide variant (synonymous variant)	Congenital muscular dystrophy due to integrin alpha-7 deficiency +1 more	GLikely benign
Select item 2041079	NM_002206.3(ITGA7):c.2590A>G (p.Met864Val)	ITGA7 (M803V +13 more)	Single nucleotide variant (missense variant)	Congenital muscular dystrophy due to integrin alpha-7 deficiency +1 more	GUncertain significance
Select item 94040	NM_002206.3(ITGA7):c.2569G>A (p.Gly857Ser)	ITGA7 (G857S +13 more)	Single nucleotide variant (missense variant)	Congenital muscular dystrophy due to integrin alpha-7 deficiency +2 more	GConflicting classifications of pathogenicity
Select item 258585	NM_002206.3(ITGA7):c.2556G>A (p.Ser852=)	ITGA7	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 537997	NM_002206.3(ITGA7):c.2545C>G (p.Gln849Glu)	ITGA7 (Q756E +13 more)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 1251048	NM_002206.3(ITGA7):c.2536-44del	ITGA7	Deletion (intron variant)	not provided	GBenign
Select item 673611	NM_002206.3(ITGA7):c.2535+321C>G	ITGA7, LOC126861535	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 94039	NM_002206.3(ITGA7):c.2433-5G>A	ITGA7, LOC126861535	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 1307125	NM_002206.3(ITGA7):c.2428G>C (p.Ala810Pro)	ITGA7, LOC126861535 (A362P +13 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1304405	NM_002206.3(ITGA7):c.2398C>T (p.Arg800Cys)	ITGA7, LOC126861535 (R352C +13 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 682025	NM_002206.3(ITGA7):c.2357+21A>G	ITGA7, LOC126861535	Single nucleotide variant (intron variant)	Congenital muscular dystrophy due to integrin alpha-7 deficiency +1 more	GBenign
Select item 512534	NM_002206.3(ITGA7):c.2357+10G>T	ITGA7, LOC126861535	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 162572	NM_002206.3(ITGA7):c.2357+1G>A	ITGA7, LOC126861535	Single nucleotide variant (splice donor variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 194731	NM_002206.3(ITGA7):c.2293A>G (p.Ile765Val)	ITGA7, LOC126861535 (I765V +13 more)	Single nucleotide variant (missense variant)	Congenital muscular dystrophy due to integrin alpha-7 deficiency +2 more	GConflicting classifications of pathogenicity
Select item 678402	NM_002206.3(ITGA7):c.2278-43G>A	ITGA7, LOC126861535	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 383215	NM_002206.3(ITGA7):c.2146A>C (p.Met716Leu)	ITGA7, LOC126861535 (M623L +12 more)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 1929240	NM_002206.3(ITGA7):c.2143G>A (p.Val715Ile)	ITGA7, LOC126861535 (V606I +12 more)	Single nucleotide variant (missense variant)	Congenital muscular dystrophy due to integrin alpha-7 deficiency +1 more	GUncertain significance
Select item 287413	NM_002206.3(ITGA7):c.2035C>A (p.Leu679Met)	ITGA7, LOC126861535 (L679M +12 more)	Single nucleotide variant (missense variant)	Congenital muscular dystrophy due to integrin alpha-7 deficiency +2 more	GUncertain significance
Select item 388582	NM_002206.3(ITGA7):c.2007T>C (p.Asp669=)	ITGA7, LOC126861535	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 672171	NM_002206.3(ITGA7):c.2004-9A>T	ITGA7, LOC126861535	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 94037	NM_002206.3(ITGA7):c.2004-19G>A	ITGA7, LOC126861535	Single nucleotide variant (intron variant)	Congenital muscular dystrophy due to integrin alpha-7 deficiency +2 more	GBenign
Select item 677462	NM_002206.3(ITGA7):c.2004-52A>T	ITGA7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 682024	NM_002206.3(ITGA7):c.2004-158G>A	ITGA7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 682023	NM_002206.3(ITGA7):c.2004-215G>C	ITGA7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1192131	NM_002206.3(ITGA7):c.2003+267G>C	ITGA7	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1271163	NM_002206.3(ITGA7):c.2003+133C>T	ITGA7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 682022	NM_002206.3(ITGA7):c.2003+97G>A	ITGA7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 470571	NM_002206.3(ITGA7):c.1982C>T (p.Thr661Met)	ITGA7 (T661M +12 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1306724	NM_002206.3(ITGA7):c.1969C>T (p.Arg657Trp)	ITGA7 (R209W +12 more)	Single nucleotide variant (missense variant)	Congenital muscular dystrophy due to integrin alpha-7 deficiency +1 more	GUncertain significance
Select item 94036	NM_002206.3(ITGA7):c.1965T>C (p.Cys655=)	ITGA7	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 94035	NM_002206.3(ITGA7):c.1952G>A (p.Arg651His)	ITGA7 (R651H +12 more)	Single nucleotide variant (missense variant)	Congenital muscular dystrophy due to integrin alpha-7 deficiency +2 more	GBenign
Select item 677461	NM_002206.3(ITGA7):c.1888-106C>T	ITGA7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 682021	NM_002206.3(ITGA7):c.1888-133A>G	ITGA7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1298191	NM_002206.3(ITGA7):c.1888-155C>G	ITGA7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1182985	NM_002206.3(ITGA7):c.1888-263C>T	ITGA7	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 673610	NM_002206.3(ITGA7):c.1888-279G>A	ITGA7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 682019	NM_002206.3(ITGA7):c.1887+29G>A	ITGA7	Single nucleotide variant (intron variant)	Congenital muscular dystrophy due to integrin alpha-7 deficiency +1 more	GBenign
Select item 432936	NM_002206.3(ITGA7):c.1829G>T (p.Gly610Val)	ITGA7 (G517V +12 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 284004	NM_002206.3(ITGA7):c.1828G>A (p.Gly610Arg)	ITGA7 (G610R +12 more)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 432405	NM_002206.3(ITGA7):c.1807C>T (p.Arg603Trp)	ITGA7 (R510W +12 more)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 1207554	NM_002206.3(ITGA7):c.1738-23G>A	ITGA7	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 194044	NM_002206.3(ITGA7):c.1722C>A (p.Ala574=)	ITGA7	Single nucleotide variant (synonymous variant)	Congenital muscular dystrophy due to integrin alpha-7 deficiency +2 more	GConflicting classifications of pathogenicity
Select item 309787	NM_002206.3(ITGA7):c.1681G>A (p.Val561Met)	ITGA7 (V468M +12 more)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 94033	NM_002206.3(ITGA7):c.1659C>G (p.Pro553=)	ITGA7	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely benign
Select item 449648	NM_002206.3(ITGA7):c.1625G>A (p.Arg542His)	ITGA7 (R449H +12 more)	Single nucleotide variant (missense variant)	Congenital muscular dystrophy due to integrin alpha-7 deficiency +1 more	GUncertain significance
Select item 129292	NM_002206.3(ITGA7):c.1617G>T (p.Gln539His)	ITGA7 (Q539H +12 more)	Single nucleotide variant (missense variant)	Congenital muscular dystrophy due to integrin alpha-7 deficiency +2 more	GBenign
Select item 258583	NM_002206.3(ITGA7):c.1609C>T (p.Arg537Trp)	ITGA7 (R537W +12 more)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign/Likely benign
Select item 194046	NM_002206.3(ITGA7):c.1606C>T (p.Leu536Phe)	ITGA7 (L536F +12 more)	Single nucleotide variant (missense variant)	Congenital muscular dystrophy due to integrin alpha-7 deficiency +1 more	GConflicting classifications of pathogenicity
Select item 94032	NM_002206.3(ITGA7):c.1589C>T (p.Ala530Val)	ITGA7 (A530V +12 more)	Single nucleotide variant (missense variant)	Congenital muscular dystrophy due to integrin alpha-7 deficiency +1 more	GUncertain significance
Select item 382673	NM_002206.3(ITGA7):c.1568-18T>C	ITGA7	Single nucleotide variant (intron variant)	not specified +1 more	GBenign/Likely benign

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