"Revvity Omics, Revvity"[submitter] AND "ITGA7"[gene] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 1 to 100 of 119

<< First< Prev

Page of 2

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 537987	NM_002206.3(ITGA7):c.3388G>A (p.Gly1130Arg)	ITGA7 (G1130R +13 more)	Single nucleotide variant (missense variant)	Congenital muscular dystrophy due to integrin alpha-7 deficiency	GUncertain significance
Select item 1037648	NM_002206.3(ITGA7):c.3385G>A (p.Asp1129Asn)	ITGA7 (D1123N +13 more)	Single nucleotide variant (missense variant)	Congenital muscular dystrophy due to integrin alpha-7 deficiency	GUncertain significance
Select item 850369	NM_002206.3(ITGA7):c.3373G>A (p.Glu1125Lys)	ITGA7 (E1032K +13 more)	Single nucleotide variant (missense variant)	Congenital muscular dystrophy due to integrin alpha-7 deficiency +1 more	GUncertain significance
Select item 1163534	NM_002206.3(ITGA7):c.3309C>G (p.Asn1103Lys)	ITGA7 (N1010K +13 more)	Single nucleotide variant (missense variant)	ITGA7-related disorder +2 more	GUncertain significance
Select item 287906	NM_002206.3(ITGA7):c.3287C>T (p.Thr1096Met)	ITGA7 (T1003M +13 more)	Single nucleotide variant (missense variant)	not specified +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 1120695	NM_002206.3(ITGA7):c.3263G>A (p.Arg1088Gln)	ITGA7 (R1082Q +13 more)	Single nucleotide variant (missense variant)	Congenital muscular dystrophy due to integrin alpha-7 deficiency	GConflicting classifications of pathogenicity
Select item 1040572	NM_002206.3(ITGA7):c.3254G>A (p.Arg1085Gln)	ITGA7 (R637Q +13 more)	Single nucleotide variant (missense variant)	Congenital muscular dystrophy due to integrin alpha-7 deficiency +1 more	GUncertain significance
Select item 960096	NM_002206.3(ITGA7):c.3236A>G (p.His1079Arg)	ITGA7 (H1083R +13 more)	Single nucleotide variant (missense variant)	Congenital muscular dystrophy due to integrin alpha-7 deficiency	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 863712	NM_002206.3(ITGA7):c.3158C>G (p.Ala1053Gly)	ITGA7 (A1047G +13 more)	Single nucleotide variant (missense variant)	Congenital muscular dystrophy due to integrin alpha-7 deficiency	GUncertain significance
Select item 2432916	NM_002206.3(ITGA7):c.3113G>T (p.Trp1038Leu)	ITGA7 (W1009L +13 more)	Single nucleotide variant (missense variant)	Congenital muscular dystrophy due to integrin alpha-7 deficiency	GUncertain significance
Select item 936675	NM_002206.3(ITGA7):c.3075C>G (p.Tyr1025Ter)	ITGA7 (Y1019* +13 more)	Single nucleotide variant (nonsense)	Congenital muscular dystrophy due to integrin alpha-7 deficiency	GPathogenic/Likely pathogenic
Select item 576887	NM_002206.3(ITGA7):c.3064G>C (p.Val1022Leu)	ITGA7 (V1022L +13 more)	Single nucleotide variant (missense variant)	Congenital muscular dystrophy due to integrin alpha-7 deficiency	GUncertain significance
Select item 2432905	NM_002206.3(ITGA7):c.3060C>G (p.Ile1020Met)	ITGA7 (I1014M +13 more)	Single nucleotide variant (missense variant)	Congenital muscular dystrophy due to integrin alpha-7 deficiency	GUncertain significance
Select item 1021543	NM_002206.3(ITGA7):c.3010G>A (p.Val1004Met)	ITGA7 (V1004M +13 more)	Single nucleotide variant (missense variant)	Congenital muscular dystrophy due to integrin alpha-7 deficiency	GUncertain significance
Select item 2432897	NM_002206.3(ITGA7):c.2996G>A (p.Arg999Gln)	ITGA7 (R1003Q +13 more)	Single nucleotide variant (missense variant)	Congenital muscular dystrophy due to integrin alpha-7 deficiency	GUncertain significance
Select item 2689261	NM_002206.3(ITGA7):c.2988_2989inv (p.Ile997Leu)	ITGA7 (I1001L +13 more)	Inversion (missense variant)	Congenital muscular dystrophy due to integrin alpha-7 deficiency	GUncertain significance
Select item 2432892	NM_002206.3(ITGA7):c.2980C>G (p.Leu994Val)	ITGA7 (L1038V +13 more)	Single nucleotide variant (missense variant)	Congenital muscular dystrophy due to integrin alpha-7 deficiency	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 1505669	NM_002206.3(ITGA7):c.2905C>T (p.Arg969Cys)	ITGA7 (R860C +13 more)	Single nucleotide variant (missense variant)	Congenital muscular dystrophy due to integrin alpha-7 deficiency	GUncertain significance
Select item 567040	NM_002206.3(ITGA7):c.2861C>T (p.Thr954Met)	ITGA7 (T954M +13 more)	Single nucleotide variant (missense variant)	Congenital muscular dystrophy due to integrin alpha-7 deficiency	GUncertain significance
Select item 2432891	NM_002206.3(ITGA7):c.2813C>G (p.Ser938Cys)	ITGA7 (S490C +13 more)	Single nucleotide variant (missense variant)	Congenital muscular dystrophy due to integrin alpha-7 deficiency	GUncertain significance
Select item 1479526	NM_002206.3(ITGA7):c.2794A>G (p.Met932Val)	ITGA7 (M484V +13 more)	Single nucleotide variant (missense variant)	Congenital muscular dystrophy due to integrin alpha-7 deficiency	GUncertain significance
Select item 1053784	NM_002206.3(ITGA7):c.2722A>G (p.Ser908Gly)	ITGA7 (S460G +13 more)	Single nucleotide variant (missense variant)	Congenital muscular dystrophy due to integrin alpha-7 deficiency	GUncertain significance
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 960181	NM_002206.3(ITGA7):c.2534C>T (p.Thr845Met)	ITGA7, LOC126861535 (T849M +13 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 943593	NM_002206.3(ITGA7):c.2476G>A (p.Gly826Ser)	ITGA7, LOC126861535 (G378S +13 more)	Single nucleotide variant (missense variant)	Congenital muscular dystrophy due to integrin alpha-7 deficiency	GUncertain significance
Select item 537991	NM_002206.3(ITGA7):c.2470G>T (p.Val824Leu)	ITGA7, LOC126861535 (V731L +13 more)	Single nucleotide variant (missense variant)	Congenital muscular dystrophy due to integrin alpha-7 deficiency	GUncertain significance
Select item 569702	NM_002206.3(ITGA7):c.2467G>A (p.Val823Met)	ITGA7, LOC126861535 (V730M +13 more)	Single nucleotide variant (missense variant)	Congenital muscular dystrophy due to integrin alpha-7 deficiency	GUncertain significance
Select item 1425593	NM_002206.3(ITGA7):c.2452C>T (p.Leu818Phe)	ITGA7, LOC126861535 (L812F +13 more)	Single nucleotide variant (missense variant)	Congenital muscular dystrophy due to integrin alpha-7 deficiency	GUncertain significance
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 537994	NM_002206.3(ITGA7):c.2399G>A (p.Arg800His)	ITGA7, LOC126861535 (R707H +13 more)	Single nucleotide variant (missense variant)	Congenital muscular dystrophy due to integrin alpha-7 deficiency	GUncertain significance
Select item 844274	NM_002206.3(ITGA7):c.2392C>T (p.Arg798Ter)	ITGA7, LOC126861535 (R792* +13 more)	Single nucleotide variant (nonsense)	Congenital muscular dystrophy due to integrin alpha-7 deficiency	GPathogenic/Likely pathogenic
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 2154859	NM_002206.3(ITGA7):c.2357C>T (p.Thr786Met)	ITGA7, LOC126861535 (T711M +13 more)	Single nucleotide variant (missense variant)	Congenital muscular dystrophy due to integrin alpha-7 deficiency	GUncertain significance
Select item 2432906	NM_002206.3(ITGA7):c.2286C>A (p.Phe762Leu)	ITGA7, LOC126861535 (F314L +13 more)	Single nucleotide variant (missense variant)	Congenital muscular dystrophy due to integrin alpha-7 deficiency	GUncertain significance
Select item 1045894	NM_002206.3(ITGA7):c.2282C>G (p.Thr761Ser)	ITGA7, LOC126861535 (T652S +13 more)	Single nucleotide variant (missense variant)	Congenital muscular dystrophy due to integrin alpha-7 deficiency	GUncertain significance
Select item 2432889	NM_002206.3(ITGA7):c.2281A>G (p.Thr761Ala)	ITGA7, LOC126861535 (T313A +13 more)	Single nucleotide variant (missense variant)	Congenital muscular dystrophy due to integrin alpha-7 deficiency +1 more	GUncertain significance
Select item 252541	NM_002206.3(ITGA7):c.2278G>A (p.Val760Ile)	ITGA7, LOC126861535 (V760I +13 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2042548	NM_002206.3(ITGA7):c.2269G>A (p.Gly757Ser)	ITGA7, LOC126861535 (G644S +13 more)	Single nucleotide variant (missense variant)	Congenital muscular dystrophy due to integrin alpha-7 deficiency	GUncertain significance
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 2432904	NM_002206.3(ITGA7):c.2121T>G (p.Asp707Glu)	ITGA7, LOC126861535 (D259E +12 more)	Single nucleotide variant (missense variant)	Congenital muscular dystrophy due to integrin alpha-7 deficiency	GUncertain significance
Select item 94038	NM_002206.3(ITGA7):c.2087C>T (p.Ser696Leu)	ITGA7, LOC126861535 (S696L +12 more)	Single nucleotide variant (missense variant)	Congenital muscular dystrophy due to integrin alpha-7 deficiency +2 more	GUncertain significance
Select item 2432895	NM_002206.3(ITGA7):c.2053A>G (p.Ile685Val)	ITGA7, LOC126861535 (I237V +12 more)	Single nucleotide variant (missense variant)	Congenital muscular dystrophy due to integrin alpha-7 deficiency	GUncertain significance
Select item 537993	NM_002206.3(ITGA7):c.1994C>T (p.Pro665Leu)	ITGA7 (P572L +12 more)	Single nucleotide variant (missense variant)	Congenital muscular dystrophy due to integrin alpha-7 deficiency	GUncertain significance
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 309786	NM_002206.3(ITGA7):c.1918G>A (p.Asp640Asn)	ITGA7 (D547N +12 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1324588	NM_002206.3(ITGA7):c.1825C>T (p.Gln609Ter)	ITGA7 (Q161* +12 more)	Single nucleotide variant (nonsense)	Congenital muscular dystrophy due to integrin alpha-7 deficiency	GLikely pathogenic
Select item 1922243	NM_002206.3(ITGA7):c.1816G>T (p.Ala606Ser)	ITGA7 (A493S +12 more)	Single nucleotide variant (missense variant)	Congenital muscular dystrophy due to integrin alpha-7 deficiency	GUncertain significance
Select item 1324590	NM_002206.3(ITGA7):c.1810C>T (p.Arg604Ter)	ITGA7 (R156* +12 more)	Single nucleotide variant (nonsense)	Congenital muscular dystrophy due to integrin alpha-7 deficiency	GPathogenic/Likely pathogenic
Select item 2432917	NM_002206.3(ITGA7):c.1793A>C (p.Gln598Pro)	ITGA7 (Q150P +12 more)	Single nucleotide variant (missense variant)	Congenital muscular dystrophy due to integrin alpha-7 deficiency	GUncertain significance
Select item 194205	NM_002206.3(ITGA7):c.1771G>A (p.Val591Met)	ITGA7 (V591M +12 more)	Single nucleotide variant (missense variant)	Congenital muscular dystrophy due to integrin alpha-7 deficiency +1 more	GUncertain significance
Select item 94034	NM_002206.3(ITGA7):c.1765A>C (p.Ile589Leu)	ITGA7 (I589L +12 more)	Single nucleotide variant (missense variant)	Congenital muscular dystrophy due to integrin alpha-7 deficiency +1 more	GUncertain significance
Select item 1324591	NM_002206.3(ITGA7):c.1705C>T (p.Arg569Ter)	ITGA7 (R121* +12 more)	Single nucleotide variant (nonsense)	Congenital muscular dystrophy due to integrin alpha-7 deficiency	GPathogenic/Likely pathogenic
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 1063777	NM_002206.3(ITGA7):c.1673C>T (p.Ser558Leu)	ITGA7 (S110L +12 more)	Single nucleotide variant (missense variant)	Congenital muscular dystrophy due to integrin alpha-7 deficiency +1 more	GUncertain significance
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 582868	NM_002206.3(ITGA7):c.1610G>A (p.Arg537Gln)	ITGA7 (R444Q +12 more)	Single nucleotide variant (missense variant)	Congenital muscular dystrophy due to integrin alpha-7 deficiency	GUncertain significance
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 1368390	NM_002206.3(ITGA7):c.1601G>A (p.Arg534Gln)	ITGA7 (R538Q +12 more)	Single nucleotide variant (missense variant)	Congenital muscular dystrophy due to integrin alpha-7 deficiency	GUncertain significance
Select item 2689262	NM_002206.3(ITGA7):c.1592_1593delinsGG (p.Asp531Gly)	ITGA7 (D418G +12 more)	Indel (missense variant)	Congenital muscular dystrophy due to integrin alpha-7 deficiency	GUncertain significance
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 1026312	NM_002206.3(ITGA7):c.1588G>T (p.Ala530Ser)	ITGA7 (A421S +12 more)	Single nucleotide variant (missense variant)	Congenital muscular dystrophy due to integrin alpha-7 deficiency	GUncertain significance
Select item 470566	NM_002206.3(ITGA7):c.1577A>G (p.Tyr526Cys)	ITGA7 (Y433C +10 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 2432901	NM_002206.3(ITGA7):c.1568C>G (p.Ala523Gly)	ITGA7 (A410G +10 more)	Single nucleotide variant (missense variant +1 more)	Congenital muscular dystrophy due to integrin alpha-7 deficiency +1 more	GUncertain significance
Select item 659071	NM_002206.3(ITGA7):c.1511A>G (p.Asp504Gly)	ITGA7 (D508G +10 more)	Single nucleotide variant (missense variant)	Congenital muscular dystrophy due to integrin alpha-7 deficiency	GUncertain significance
Select item 2432903	NM_002206.3(ITGA7):c.1499C>G (p.Ser500Trp)	ITGA7 (S387W +10 more)	Single nucleotide variant (missense variant)	Congenital muscular dystrophy due to integrin alpha-7 deficiency	GUncertain significance
Select item 1324594	NM_002206.3(ITGA7):c.1474C>T (p.Gln492Ter)	ITGA7 (Q383* +10 more)	Single nucleotide variant (nonsense)	Congenital muscular dystrophy due to integrin alpha-7 deficiency	GLikely pathogenic
Select item 2432919	NM_002206.3(ITGA7):c.1465G>A (p.Asp489Asn)	ITGA7 (D376N +10 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1021842	NM_002206.3(ITGA7):c.1460G>A (p.Ser487Asn)	ITGA7 (S378N +10 more)	Single nucleotide variant (missense variant)	Congenital muscular dystrophy due to integrin alpha-7 deficiency +1 more	GUncertain significance
Select item 470565	NM_002206.3(ITGA7):c.1446_1453del (p.Ile483fs)	ITGA7 (I374fs +4 more)	Deletion (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 580306	NM_002206.3(ITGA7):c.1396G>A (p.Ala466Thr)	ITGA7 (A373T +10 more)	Single nucleotide variant (missense variant)	Congenital muscular dystrophy due to integrin alpha-7 deficiency	GUncertain significance
Select item 199075	NM_002206.3(ITGA7):c.1317C>T (p.Phe439=)	ITGA7	Single nucleotide variant (synonymous variant +1 more)	Congenital muscular dystrophy due to integrin alpha-7 deficiency +1 more	GConflicting classifications of pathogenicity
Select item 538004	NM_002206.3(ITGA7):c.1267G>A (p.Ala423Thr)	ITGA7 (A423T +9 more)	Single nucleotide variant (missense variant +1 more)	Congenital muscular dystrophy due to integrin alpha-7 deficiency	GUncertain significance
Select item 998835	NM_002206.3(ITGA7):c.1249A>G (p.Ser417Gly)	ITGA7 (S308G +9 more)	Single nucleotide variant (missense variant +1 more)	Congenital muscular dystrophy due to integrin alpha-7 deficiency	GUncertain significance
Select item 2432915	NM_002206.3(ITGA7):c.1238T>A (p.Ile413Asn)	ITGA7 (I300N +9 more)	Single nucleotide variant (missense variant +1 more)	Congenital muscular dystrophy due to integrin alpha-7 deficiency	GUncertain significance
Select item 2432911	NM_002206.3(ITGA7):c.1127C>T (p.Ser376Phe)	ITGA7 (S263F +7 more)	Single nucleotide variant (missense variant +1 more)	Congenital muscular dystrophy due to integrin alpha-7 deficiency	GUncertain significance
Select item 846277	NM_002206.3(ITGA7):c.1091A>T (p.His364Leu)	ITGA7 (H255L +7 more)	Single nucleotide variant (missense variant +1 more)	Congenital muscular dystrophy due to integrin alpha-7 deficiency	GUncertain significance
Select item 129291	NM_002206.3(ITGA7):c.1088dup (p.His364fs)	ITGA7 (H364fs +3 more)	Duplication (frameshift variant +1 more)	Congenital muscular dystrophy due to integrin alpha-7 deficiency	GPathogenic/Likely pathogenic
Select item 2432910	NM_002206.3(ITGA7):c.1087G>C (p.Gly363Arg)	ITGA7 (G250R +7 more)	Single nucleotide variant (missense variant +1 more)	Congenital muscular dystrophy due to integrin alpha-7 deficiency	GUncertain significance
Select item 1324592	NM_002206.3(ITGA7):c.1071delinsAT (p.Tyr358fs)	ITGA7 (Y249fs +3 more)	Indel (frameshift variant +1 more)	Congenital muscular dystrophy due to integrin alpha-7 deficiency	GLikely pathogenic
Select item 2432898	NM_002206.3(ITGA7):c.1064T>G (p.Val355Gly)	ITGA7 (V242G +7 more)	Single nucleotide variant (missense variant +1 more)	Congenital muscular dystrophy due to integrin alpha-7 deficiency	GUncertain significance
Select item 1044425	NM_002206.3(ITGA7):c.1040G>A (p.Arg347His)	ITGA7 (R238H +7 more)	Single nucleotide variant (missense variant +1 more)	Congenital muscular dystrophy due to integrin alpha-7 deficiency	GUncertain significance
Select item 2689260	NM_002206.3(ITGA7):c.944G>C (p.Arg315Pro)	ITGA7 (R202P +7 more)	Single nucleotide variant (missense variant +1 more)	Congenital muscular dystrophy due to integrin alpha-7 deficiency	GUncertain significance
Select item 2432908	NM_002206.3(ITGA7):c.943C>T (p.Arg315Cys)	ITGA7 (R202C +7 more)	Single nucleotide variant (missense variant +1 more)	Congenital muscular dystrophy due to integrin alpha-7 deficiency	GUncertain significance
Select item 1370779	NM_002206.3(ITGA7):c.922G>A (p.Glu308Lys)	ITGA7 (E312K +7 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 1429811	NM_002206.3(ITGA7):c.911G>A (p.Arg304His)	ITGA7 (R211H +7 more)	Single nucleotide variant (missense variant +1 more)	Congenital muscular dystrophy due to integrin alpha-7 deficiency	GUncertain significance
Select item 198147	NM_002206.3(ITGA7):c.892C>T (p.Arg298Cys)	ITGA7 (R298C +7 more)	Single nucleotide variant (missense variant +1 more)	Congenital muscular dystrophy due to integrin alpha-7 deficiency +1 more	GUncertain significance
Select item 2432896	NM_002206.3(ITGA7):c.832G>A (p.Glu278Lys)	ITGA7 (E165K +7 more)	Single nucleotide variant (missense variant +1 more)	Congenital muscular dystrophy due to integrin alpha-7 deficiency	GUncertain significance
Select item 538001	NM_002206.3(ITGA7):c.799A>G (p.Ile267Val)	ITGA7 (I267V +7 more)	Single nucleotide variant (missense variant +1 more)	Congenital muscular dystrophy due to integrin alpha-7 deficiency +1 more	GConflicting classifications of pathogenicity
Select item 2432914	NM_002206.3(ITGA7):c.680T>G (p.Phe227Cys)	ITGA7 (F114C +3 more)	Single nucleotide variant (missense variant +1 more)	Congenital muscular dystrophy due to integrin alpha-7 deficiency	GUncertain significance
Select item 537988	NM_002206.3(ITGA7):c.671G>C (p.Gly224Ala)	ITGA7 (G224A +3 more)	Single nucleotide variant (missense variant +1 more)	Congenital muscular dystrophy due to integrin alpha-7 deficiency +2 more	GUncertain significance
Select item 1034535	NM_002206.3(ITGA7):c.668A>G (p.Lys223Arg)	ITGA7 (K126R +3 more)	Single nucleotide variant (missense variant +1 more)	Congenital muscular dystrophy due to integrin alpha-7 deficiency	GUncertain significance
Select item 2184403	NM_002206.3(ITGA7):c.632A>G (p.Tyr211Cys)	ITGA7 (Y150C +3 more)	Single nucleotide variant (missense variant +1 more)	Congenital muscular dystrophy due to integrin alpha-7 deficiency	GUncertain significance
Select item 432368	NM_002206.3(ITGA7):c.571C>T (p.His191Tyr)	ITGA7 (H191Y +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 432700	NM_002206.3(ITGA7):c.517C>T (p.Arg173Trp)	ITGA7 (R173W +2 more)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GUncertain significance
Select item 1384230	NM_002206.3(ITGA7):c.485G>A (p.Arg162His)	ITGA7 (R49H +2 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 841014	NM_002206.3(ITGA7):c.467C>A (p.Thr156Lys)	ITGA7 (T43K +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance

<< First< Prev

Page of 2