| NM_000210.4(ITGA6):c.2247C>G (p.Val749=) |
single nucleotide variant |
Junctional epidermolysis bullosa with pyloric atresia [RCV000375934]|not provided [RCV000881983] |
Chr2:172487730 [GRCh38]
Chr2:173352458 [GRCh37]
Chr2:2q31.1 |
benign|likely benign|uncertain significance |
| NM_000210.4(ITGA6):c.1970+12_1970+14del |
deletion |
Junctional epidermolysis bullosa with pyloric atresia [RCV000267224]|not provided [RCV000907269] |
Chr2:172487148..172487150 [GRCh38]
Chr2:173351876..173351878 [GRCh37]
Chr2:2q31.1 |
benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000210.4(ITGA6):c.1904A>G (p.Asn635Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV003295251] |
Chr2:172487072 [GRCh38]
Chr2:173351800 [GRCh37]
Chr2:2q31.1 |
uncertain significance |
| NM_000210.4(ITGA6):c.3006T>C (p.Phe1002=) |
single nucleotide variant |
Junctional epidermolysis bullosa with pyloric atresia [RCV000358668]|not provided [RCV000963267] |
Chr2:172497992 [GRCh38]
Chr2:173362720 [GRCh37]
Chr2:2q31.1 |
benign|uncertain significance |
| NM_000210.4(ITGA6):c.2679+13A>C |
single nucleotide variant |
Junctional epidermolysis bullosa with pyloric atresia [RCV001128720] |
Chr2:172489671 [GRCh38]
Chr2:173354399 [GRCh37]
Chr2:2q31.1 |
uncertain significance |
| NM_000210.4(ITGA6):c.*648G>A |
single nucleotide variant |
Junctional epidermolysis bullosa with pyloric atresia [RCV001128830] |
Chr2:172504716 [GRCh38]
Chr2:173369444 [GRCh37]
Chr2:2q31.1 |
uncertain significance |
| NM_000210.4(ITGA6):c.*1442T>C |
single nucleotide variant |
Junctional epidermolysis bullosa with pyloric atresia [RCV001134474] |
Chr2:172505510 [GRCh38]
Chr2:173370238 [GRCh37]
Chr2:2q31.1 |
uncertain significance |
| NM_000210.4(ITGA6):c.*142dup |
duplication |
Epidermolysis bullosa, junctional 6, with pyloric atresia [RCV002500684]|Junctional epidermolysis bullosa with pyloric atresia [RCV000490534] |
Chr2:172504202..172504203 [GRCh38]
Chr2:173368930..173368931 [GRCh37]
Chr2:2q31.1 |
uncertain significance |
| NM_000210.4(ITGA6):c.*23-72_*23-34del |
deletion |
not provided [RCV001652655] |
Chr2:172504016..172504054 [GRCh38]
Chr2:173368744..173368782 [GRCh37]
Chr2:2q31.1 |
benign |
| NM_000210.4(ITGA6):c.*204A>T |
single nucleotide variant |
not provided [RCV001779641] |
Chr2:172504272 [GRCh38]
Chr2:173369000 [GRCh37]
Chr2:2q31.1 |
likely benign |
| GRCh38/hg38 2q24.3-32.1(chr2:163965382-182195062)x1 |
copy number loss |
See cases [RCV000054122] |
Chr2:163965382..182195062 [GRCh38]
Chr2:164821892..183059789 [GRCh37]
Chr2:164530138..182768034 [NCBI36]
Chr2:2q24.3-32.1 |
pathogenic |
| GRCh38/hg38 2q31.1(chr2:172296909-172932166)x3 |
copy number gain |
See cases [RCV000142667] |
Chr2:172296909..172932166 [GRCh38]
Chr2:173161637..173796894 [GRCh37]
Chr2:172869883..173505140 [NCBI36]
Chr2:2q31.1 |
uncertain significance |
| NM_000210.4(ITGA6):c.2245-3del |
deletion |
Epidermolysis bullosa, junctional 6, with pyloric atresia [RCV002504119]|Junctional epidermolysis bullosa with pyloric atresia [RCV000318976]|not provided [RCV002057607] |
Chr2:172487719 [GRCh38]
Chr2:173352447 [GRCh37]
Chr2:2q31.1 |
benign|likely benign |
| NM_000210.4(ITGA6):c.*702C>T |
single nucleotide variant |
Junctional epidermolysis bullosa with pyloric atresia [RCV001128831] |
Chr2:172504770 [GRCh38]
Chr2:173369498 [GRCh37]
Chr2:2q31.1 |
likely benign |
| NM_000210.4(ITGA6):c.*2081G>A |
single nucleotide variant |
Junctional epidermolysis bullosa with pyloric atresia [RCV001135936] |
Chr2:172506149 [GRCh38]
Chr2:173370877 [GRCh37]
Chr2:2q31.1 |
uncertain significance |
| NM_000210.4(ITGA6):c.2889+41C>G |
single nucleotide variant |
not provided [RCV001671947] |
Chr2:172491372 [GRCh38]
Chr2:173356100 [GRCh37]
Chr2:2q31.1 |
benign |
| NM_000210.4(ITGA6):c.*435A>G |
single nucleotide variant |
Junctional epidermolysis bullosa with pyloric atresia [RCV000331172]|not provided [RCV001672565] |
Chr2:172504503 [GRCh38]
Chr2:173369231 [GRCh37]
Chr2:2q31.1 |
benign |
| GRCh38/hg38 2q24.3-31.1(chr2:164850117-175559190)x1 |
copy number loss |
See cases [RCV000051201] |
Chr2:164850117..175559190 [GRCh38]
Chr2:165706627..176423918 [GRCh37]
Chr2:165414873..176132164 [NCBI36]
Chr2:2q24.3-31.1 |
pathogenic |
| NM_000210.4(ITGA6):c.*50G>A |
single nucleotide variant |
Junctional epidermolysis bullosa with pyloric atresia [RCV000260596] |
Chr2:172504118 [GRCh38]
Chr2:173368846 [GRCh37]
Chr2:2q31.1 |
uncertain significance |
| NM_000210.4(ITGA6):c.*1655G>T |
single nucleotide variant |
Junctional epidermolysis bullosa with pyloric atresia [RCV000270112] |
Chr2:172505723 [GRCh38]
Chr2:173370451 [GRCh37]
Chr2:2q31.1 |
benign|uncertain significance |
| NM_000210.4(ITGA6):c.*1383C>G |
single nucleotide variant |
Junctional epidermolysis bullosa with pyloric atresia [RCV000271041] |
Chr2:172505451 [GRCh38]
Chr2:173370179 [GRCh37]
Chr2:2q31.1 |
uncertain significance |
| NM_000210.4(ITGA6):c.*434_*435insG |
insertion |
Junctional epidermolysis bullosa with pyloric atresia [RCV000273723] |
Chr2:172504502..172504503 [GRCh38]
Chr2:173369230..173369231 [GRCh37]
Chr2:2q31.1 |
uncertain significance |
| NM_000210.4(ITGA6):c.2890-19A>G |
single nucleotide variant |
not provided [RCV002781223] |
Chr2:172491406 [GRCh38]
Chr2:173356134 [GRCh37]
Chr2:2q31.1 |
likely benign |
| NM_000210.4(ITGA6):c.2244+19T>G |
single nucleotide variant |
not provided [RCV002786769] |
Chr2:172487649 [GRCh38]
Chr2:173352377 [GRCh37]
Chr2:2q31.1 |
benign |
| NM_000210.4(ITGA6):c.*2069del |
deletion |
Junctional epidermolysis bullosa with pyloric atresia [RCV000334949] |
Chr2:172506136 [GRCh38]
Chr2:173370864 [GRCh37]
Chr2:2q31.1 |
uncertain significance |
| NM_000210.4(ITGA6):c.*2349T>C |
single nucleotide variant |
Junctional epidermolysis bullosa with pyloric atresia [RCV000352805] |
Chr2:172506417 [GRCh38]
Chr2:173371145 [GRCh37]
Chr2:2q31.1 |
benign|likely benign |
| NM_000210.4(ITGA6):c.*776T>G |
single nucleotide variant |
Junctional epidermolysis bullosa with pyloric atresia [RCV000407650] |
Chr2:172504844 [GRCh38]
Chr2:173369572 [GRCh37]
Chr2:2q31.1 |
uncertain significance |
| NM_000210.4(ITGA6):c.1781G>A (p.Arg594His) |
single nucleotide variant |
not provided [RCV003080705] |
Chr2:172485191 [GRCh38]
Chr2:173349919 [GRCh37]
Chr2:2q31.1 |
uncertain significance |
| NM_000210.4(ITGA6):c.2799C>G (p.Asn933Lys) |
single nucleotide variant |
Inborn genetic diseases [RCV003179558] |
Chr2:172491241 [GRCh38]
Chr2:173355969 [GRCh37]
Chr2:2q31.1 |
uncertain significance |
| NM_000210.4(ITGA6):c.2948C>T (p.Ala983Val) |
single nucleotide variant |
Inborn genetic diseases [RCV003181285] |
Chr2:172491483 [GRCh38]
Chr2:173356211 [GRCh37]
Chr2:2q31.1 |
uncertain significance |
| NM_000210.4(ITGA6):c.*719T>C |
single nucleotide variant |
Junctional epidermolysis bullosa with pyloric atresia [RCV000286791] |
Chr2:172504787 [GRCh38]
Chr2:173369515 [GRCh37]
Chr2:2q31.1 |
uncertain significance |
| NM_000210.4(ITGA6):c.3132A>G (p.Arg1044=) |
single nucleotide variant |
Junctional epidermolysis bullosa with pyloric atresia [RCV000300621]|not provided [RCV003727690] |
Chr2:172501789 [GRCh38]
Chr2:173366517 [GRCh37]
Chr2:2q31.1 |
benign|uncertain significance |
| NM_000210.4(ITGA6):c.*1194A>G |
single nucleotide variant |
Junctional epidermolysis bullosa with pyloric atresia [RCV000310985] |
Chr2:172505262 [GRCh38]
Chr2:173369990 [GRCh37]
Chr2:2q31.1 |
benign|likely benign |
| NM_000210.4(ITGA6):c.*574C>G |
single nucleotide variant |
Junctional epidermolysis bullosa with pyloric atresia [RCV000383444] |
Chr2:172504642 [GRCh38]
Chr2:173369370 [GRCh37]
Chr2:2q31.1 |
uncertain significance |
| NM_000210.4(ITGA6):c.1640A>G (p.Lys547Arg) |
single nucleotide variant |
not provided [RCV002621389] |
Chr2:172484872 [GRCh38]
Chr2:173349600 [GRCh37]
Chr2:2q31.1 |
uncertain significance |
| NM_000210.4(ITGA6):c.2747C>A (p.Ser916Tyr) |
single nucleotide variant |
not provided [RCV002811150] |
Chr2:172491091 [GRCh38]
Chr2:173355819 [GRCh37]
Chr2:2q31.1 |
uncertain significance |
| NM_000210.4(ITGA6):c.2726T>C (p.Ile909Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV002822670] |
Chr2:172491070 [GRCh38]
Chr2:173355798 [GRCh37]
Chr2:2q31.1 |
likely benign |
| NM_000210.4(ITGA6):c.1711-13G>A |
single nucleotide variant |
not provided [RCV002592848] |
Chr2:172485108 [GRCh38]
Chr2:173349836 [GRCh37]
Chr2:2q31.1 |
likely benign |
| NM_000210.4(ITGA6):c.2785A>G (p.Ser929Gly) |
single nucleotide variant |
not provided [RCV002650158] |
Chr2:172491227 [GRCh38]
Chr2:173355955 [GRCh37]
Chr2:2q31.1 |
uncertain significance |
| NM_000210.4(ITGA6):c.2215C>A (p.Leu739Ile) |
single nucleotide variant |
not provided [RCV002658747] |
Chr2:172487601 [GRCh38]
Chr2:173352329 [GRCh37]
Chr2:2q31.1 |
uncertain significance |
| NM_000210.4(ITGA6):c.2680-12A>C |
single nucleotide variant |
not provided [RCV002659125] |
Chr2:172491012 [GRCh38]
Chr2:173355740 [GRCh37]
Chr2:2q31.1 |
likely benign |
| NM_000210.4(ITGA6):c.2705G>A (p.Arg902Gln) |
single nucleotide variant |
Inborn genetic diseases [RCV002660419] |
Chr2:172491049 [GRCh38]
Chr2:173355777 [GRCh37]
Chr2:2q31.1 |
uncertain significance |
| NM_002610.5(PDK1):c.44C>T (p.Pro15Leu) |
single nucleotide variant |
not specified [RCV004236899] |
Chr2:172556194 [GRCh38]
Chr2:173420922 [GRCh37]
Chr2:2q31.1 |
uncertain significance |
| NM_000210.4(ITGA6):c.1682T>G (p.Val561Gly) |
single nucleotide variant |
Inborn genetic diseases [RCV002776645] |
Chr2:172484914 [GRCh38]
Chr2:173349642 [GRCh37]
Chr2:2q31.1 |
uncertain significance |
| NM_000210.4(ITGA6):c.1900A>G (p.Ser634Gly) |
single nucleotide variant |
Inborn genetic diseases [RCV002818134] |
Chr2:172487068 [GRCh38]
Chr2:173351796 [GRCh37]
Chr2:2q31.1 |
uncertain significance |
| NM_000210.4(ITGA6):c.2033T>C (p.Val678Ala) |
single nucleotide variant |
not provided [RCV002904037] |
Chr2:172487326 [GRCh38]
Chr2:173352054 [GRCh37]
Chr2:2q31.1 |
uncertain significance |
| NM_000210.4(ITGA6):c.3129G>C (p.Lys1043Asn) |
single nucleotide variant |
Inborn genetic diseases [RCV002973369] |
Chr2:172501786 [GRCh38]
Chr2:173366514 [GRCh37]
Chr2:2q31.1 |
uncertain significance |
| NM_000210.4(ITGA6):c.2515T>A (p.Leu839Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV002999473]|not provided [RCV003008970] |
Chr2:172489494 [GRCh38]
Chr2:173354222 [GRCh37]
Chr2:2q31.1 |
uncertain significance |
| NM_000210.4(ITGA6):c.*22+240C>T |
single nucleotide variant |
not provided [RCV001644354] |
Chr2:172502141 [GRCh38]
Chr2:173366869 [GRCh37]
Chr2:2q31.1 |
benign |
| NM_000210.4(ITGA6):c.2161-16T>C |
single nucleotide variant |
not provided [RCV001665996] |
Chr2:172487531 [GRCh38]
Chr2:173352259 [GRCh37]
Chr2:2q31.1 |
benign |
| NM_000210.4(ITGA6):c.2403-30C>T |
single nucleotide variant |
not provided [RCV001669018] |
Chr2:172488096 [GRCh38]
Chr2:173352824 [GRCh37]
Chr2:2q31.1 |
benign |
| NM_000210.4(ITGA6):c.2160+14G>C |
single nucleotide variant |
not provided [RCV002182603] |
Chr2:172487467 [GRCh38]
Chr2:173352195 [GRCh37]
Chr2:2q31.1 |
likely benign |
| NM_000210.4(ITGA6):c.*2315A>G |
single nucleotide variant |
Junctional epidermolysis bullosa with pyloric atresia [RCV000295095] |
Chr2:172506383 [GRCh38]
Chr2:173371111 [GRCh37]
Chr2:2q31.1 |
uncertain significance |
| NM_000210.4(ITGA6):c.2704C>T (p.Arg902Trp) |
single nucleotide variant |
Epidermolysis bullosa, junctional 6, with pyloric atresia [RCV002502286]|Junctional epidermolysis bullosa with pyloric atresia [RCV000296803]|not provided [RCV003727688] |
Chr2:172491048 [GRCh38]
Chr2:173355776 [GRCh37]
Chr2:2q31.1 |
benign|likely benign |
| NM_000210.4(ITGA6):c.*919A>G |
single nucleotide variant |
Junctional epidermolysis bullosa with pyloric atresia [RCV000298369] |
Chr2:172504987 [GRCh38]
Chr2:173369715 [GRCh37]
Chr2:2q31.1 |
likely benign|uncertain significance |
| NM_000210.4(ITGA6):c.*782A>C |
single nucleotide variant |
Junctional epidermolysis bullosa with pyloric atresia [RCV000299717] |
Chr2:172504850 [GRCh38]
Chr2:173369578 [GRCh37]
Chr2:2q31.1 |
uncertain significance |
| NM_000210.4(ITGA6):c.*867T>C |
single nucleotide variant |
Junctional epidermolysis bullosa with pyloric atresia [RCV000338100] |
Chr2:172504935 [GRCh38]
Chr2:173369663 [GRCh37]
Chr2:2q31.1 |
uncertain significance |
| NM_000210.4(ITGA6):c.2861C>T (p.Ser954Leu) |
single nucleotide variant |
Epidermolysis bullosa, junctional 6, with pyloric atresia [RCV002488706]|Junctional epidermolysis bullosa with pyloric atresia [RCV000341392]|not provided [RCV003727689] |
Chr2:172491303 [GRCh38]
Chr2:173356031 [GRCh37]
Chr2:2q31.1 |
likely benign|uncertain significance |
| NM_000210.4(ITGA6):c.1969A>G (p.Ile657Val) |
single nucleotide variant |
Epidermolysis bullosa, junctional 6, with pyloric atresia [RCV002488705]|Inborn genetic diseases [RCV003343787]|Junctional epidermolysis bullosa with pyloric atresia [RCV000362303] |
Chr2:172487137 [GRCh38]
Chr2:173351865 [GRCh37]
Chr2:2q31.1 |
uncertain significance |
| NM_000210.4(ITGA6):c.*1935G>A |
single nucleotide variant |
Junctional epidermolysis bullosa with pyloric atresia [RCV000374704] |
Chr2:172506003 [GRCh38]
Chr2:173370731 [GRCh37]
Chr2:2q31.1 |
uncertain significance |
| NM_000210.4(ITGA6):c.*1795C>G |
single nucleotide variant |
Junctional epidermolysis bullosa with pyloric atresia [RCV000380423] |
Chr2:172505863 [GRCh38]
Chr2:173370591 [GRCh37]
Chr2:2q31.1 |
uncertain significance |
| NM_000210.4(ITGA6):c.*703G>A |
single nucleotide variant |
Junctional epidermolysis bullosa with pyloric atresia [RCV000382439] |
Chr2:172504771 [GRCh38]
Chr2:173369499 [GRCh37]
Chr2:2q31.1 |
uncertain significance |
| NM_000210.4(ITGA6):c.*2362_*2364dup |
duplication |
Junctional epidermolysis bullosa with pyloric atresia [RCV000391207] |
Chr2:172506427..172506428 [GRCh38]
Chr2:173371155..173371156 [GRCh37]
Chr2:2q31.1 |
uncertain significance |
| NM_000210.4(ITGA6):c.*882A>C |
single nucleotide variant |
Junctional epidermolysis bullosa with pyloric atresia [RCV000407663] |
Chr2:172504950 [GRCh38]
Chr2:173369678 [GRCh37]
Chr2:2q31.1 |
likely benign|uncertain significance |
| NM_000210.4(ITGA6):c.2728G>A (p.Asp910Asn) |
single nucleotide variant |
Junctional epidermolysis bullosa with pyloric atresia [RCV000349267]|not provided [RCV000889747] |
Chr2:172491072 [GRCh38]
Chr2:173355800 [GRCh37]
Chr2:2q31.1 |
benign|likely benign|uncertain significance |
| NM_000210.4(ITGA6):c.2505+9G>C |
single nucleotide variant |
Junctional epidermolysis bullosa with pyloric atresia [RCV001135714]|not provided [RCV000903657] |
Chr2:172488237 [GRCh38]
Chr2:173352965 [GRCh37]
Chr2:2q31.1 |
benign|likely benign |
| NM_000210.4(ITGA6):c.2109G>A (p.Thr703=) |
single nucleotide variant |
Junctional epidermolysis bullosa with pyloric atresia [RCV000358517]|not provided [RCV000917107] |
Chr2:172487402 [GRCh38]
Chr2:173352130 [GRCh37]
Chr2:2q31.1 |
benign|uncertain significance |
| NM_000210.4(ITGA6):c.3000T>C (p.Thr1000=) |
single nucleotide variant |
Junctional epidermolysis bullosa with pyloric atresia [RCV001131345]|not provided [RCV000921775] |
Chr2:172497986 [GRCh38]
Chr2:173362714 [GRCh37]
Chr2:2q31.1 |
likely benign|uncertain significance |
| NM_000210.4(ITGA6):c.2777T>C (p.Leu926Pro) |
single nucleotide variant |
Junctional epidermolysis bullosa with pyloric atresia [RCV001128722] |
Chr2:172491121 [GRCh38]
Chr2:173355849 [GRCh37]
Chr2:2q31.1 |
uncertain significance |
| NM_000210.4(ITGA6):c.*2285G>T |
single nucleotide variant |
Junctional epidermolysis bullosa with pyloric atresia [RCV001128941] |
Chr2:172506353 [GRCh38]
Chr2:173371081 [GRCh37]
Chr2:2q31.1 |
uncertain significance |
| NM_000210.4(ITGA6):c.*2291G>A |
single nucleotide variant |
Junctional epidermolysis bullosa with pyloric atresia [RCV001128942] |
Chr2:172506359 [GRCh38]
Chr2:173371087 [GRCh37]
Chr2:2q31.1 |
uncertain significance |
| NM_000210.4(ITGA6):c.*873A>G |
single nucleotide variant |
Junctional epidermolysis bullosa with pyloric atresia [RCV001131486] |
Chr2:172504941 [GRCh38]
Chr2:173369669 [GRCh37]
Chr2:2q31.1 |
uncertain significance |
| NM_000210.4(ITGA6):c.3069C>T (p.Leu1023=) |
single nucleotide variant |
Junctional epidermolysis bullosa with pyloric atresia [RCV001134345]|not provided [RCV003769634] |
Chr2:172498055 [GRCh38]
Chr2:173362783 [GRCh37]
Chr2:2q31.1 |
likely benign|uncertain significance |
| GRCh38/hg38 2q24.1-31.1(chr2:154294042-175989372)x3 |
copy number gain |
See cases [RCV000142286] |
Chr2:154294042..175989372 [GRCh38]
Chr2:155150555..176854100 [GRCh37]
Chr2:154858801..176562346 [NCBI36]
Chr2:2q24.1-31.1 |
pathogenic |
| NM_000210.4(ITGA6):c.*91AGA[1] |
microsatellite |
Childhood-onset schizophrenia [RCV000202327] |
Chr2:172504158..172504160 [GRCh38]
Chr2:173368886..173368888 [GRCh37]
Chr2:2q31.1 |
likely pathogenic |
| NM_000210.4(ITGA6):c.2793C>T (p.Asn931=) |
single nucleotide variant |
not provided [RCV000925343] |
Chr2:172491235 [GRCh38]
Chr2:173355963 [GRCh37]
Chr2:2q31.1 |
likely benign |
| NM_000210.4(ITGA6):c.*97G>A |
single nucleotide variant |
Junctional epidermolysis bullosa with pyloric atresia [RCV001134348] |
Chr2:172504165 [GRCh38]
Chr2:173368893 [GRCh37]
Chr2:2q31.1 |
uncertain significance |
| NM_000210.4(ITGA6):c.*1413T>C |
single nucleotide variant |
Junctional epidermolysis bullosa with pyloric atresia [RCV001134473] |
Chr2:172505481 [GRCh38]
Chr2:173370209 [GRCh37]
Chr2:2q31.1 |
uncertain significance |
| NM_000210.4(ITGA6):c.2324+9T>G |
single nucleotide variant |
Junctional epidermolysis bullosa with pyloric atresia [RCV001135713] |
Chr2:172487816 [GRCh38]
Chr2:173352544 [GRCh37]
Chr2:2q31.1 |
uncertain significance |
| NM_000210.4(ITGA6):c.*408C>T |
single nucleotide variant |
Junctional epidermolysis bullosa with pyloric atresia [RCV001135815] |
Chr2:172504476 [GRCh38]
Chr2:173369204 [GRCh37]
Chr2:2q31.1 |
likely benign |
| NM_000210.4(ITGA6):c.*435A>T |
single nucleotide variant |
Junctional epidermolysis bullosa with pyloric atresia [RCV001135816] |
Chr2:172504503 [GRCh38]
Chr2:173369231 [GRCh37]
Chr2:2q31.1 |
uncertain significance |
| NM_000210.4(ITGA6):c.*1883C>A |
single nucleotide variant |
Junctional epidermolysis bullosa with pyloric atresia [RCV001135935] |
Chr2:172505951 [GRCh38]
Chr2:173370679 [GRCh37]
Chr2:2q31.1 |
uncertain significance |
| NM_000210.4(ITGA6):c.2169G>A (p.Gln723=) |
single nucleotide variant |
Junctional epidermolysis bullosa with pyloric atresia [RCV001135712]|not provided [RCV000944033] |
Chr2:172487555 [GRCh38]
Chr2:173352283 [GRCh37]
Chr2:2q31.1 |
likely benign|uncertain significance |
| NM_000210.4(ITGA6):c.2825G>A (p.Arg942Gln) |
single nucleotide variant |
Inborn genetic diseases [RCV003082760]|not provided [RCV003100454] |
Chr2:172491267 [GRCh38]
Chr2:173355995 [GRCh37]
Chr2:2q31.1 |
uncertain significance |
| NM_000210.4(ITGA6):c.2862G>C (p.Ser954=) |
single nucleotide variant |
Junctional epidermolysis bullosa with pyloric atresia [RCV000404314]|not provided [RCV000967971] |
Chr2:172491304 [GRCh38]
Chr2:173356032 [GRCh37]
Chr2:2q31.1 |
benign|likely benign |
| NM_000210.4(ITGA6):c.3167del (p.Lys1056fs) |
deletion |
Junctional epidermolysis bullosa with pyloric atresia [RCV000761293] |
Chr2:172501823 [GRCh38]
Chr2:173366551 [GRCh37]
Chr2:2q31.1 |
pathogenic |
| NM_000210.4(ITGA6):c.2926C>T (p.Arg976Ter) |
single nucleotide variant |
Junctional epidermolysis bullosa with pyloric atresia [RCV000779286]|not provided [RCV003768443] |
Chr2:172491461 [GRCh38]
Chr2:173356189 [GRCh37]
Chr2:2q31.1 |
pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000210.4(ITGA6):c.2136A>T (p.Ala712=) |
single nucleotide variant |
Junctional epidermolysis bullosa with pyloric atresia [RCV000266147]|not provided [RCV001707658] |
Chr2:172487429 [GRCh38]
Chr2:173352157 [GRCh37]
Chr2:2q31.1 |
benign |
| GRCh38/hg38 2q31.1-32.1(chr2:170407688-186189894)x1 |
copy number loss |
See cases [RCV000054127] |
Chr2:170407688..186189894 [GRCh38]
Chr2:171264198..187054621 [GRCh37]
Chr2:170972444..186762866 [NCBI36]
Chr2:2q31.1-32.1 |
pathogenic |
| GRCh38/hg38 2q31.1-32.2(chr2:171429233-189179568)x1 |
copy number loss |
See cases [RCV000136850] |
Chr2:171429233..189179568 [GRCh38]
Chr2:172285743..190044294 [GRCh37]
Chr2:171993989..189752539 [NCBI36]
Chr2:2q31.1-32.2 |
pathogenic |
| NM_000210.4(ITGA6):c.2819C>T (p.Pro940Leu) |
single nucleotide variant |
Junctional epidermolysis bullosa with pyloric atresia [RCV000347958]|not provided [RCV002057608] |
Chr2:172491261 [GRCh38]
Chr2:173355989 [GRCh37]
Chr2:2q31.1 |
benign|uncertain significance |
| NM_000210.4(ITGA6):c.2161-17G>A |
single nucleotide variant |
Epidermolysis bullosa, junctional 6, with pyloric atresia [RCV002494214]|not provided [RCV002119446] |
Chr2:172487530 [GRCh38]
Chr2:173352258 [GRCh37]
Chr2:2q31.1 |
benign|likely benign |
| NM_000210.4(ITGA6):c.2161-18C>T |
single nucleotide variant |
not provided [RCV002163285] |
Chr2:172487529 [GRCh38]
Chr2:173352257 [GRCh37]
Chr2:2q31.1 |
benign |
| NM_000210.4(ITGA6):c.3075G>A (p.Gly1025=) |
single nucleotide variant |
Junctional epidermolysis bullosa with pyloric atresia [RCV000261791]|not provided [RCV002523095] |
Chr2:172498061 [GRCh38]
Chr2:173362789 [GRCh37]
Chr2:2q31.1 |
likely benign|uncertain significance |
| NM_000210.4(ITGA6):c.*1108A>G |
single nucleotide variant |
Junctional epidermolysis bullosa with pyloric atresia [RCV000276974] |
Chr2:172505176 [GRCh38]
Chr2:173369904 [GRCh37]
Chr2:2q31.1 |
uncertain significance |
| NM_000210.4(ITGA6):c.*595C>T |
single nucleotide variant |
Junctional epidermolysis bullosa with pyloric atresia [RCV000291652] |
Chr2:172504663 [GRCh38]
Chr2:173369391 [GRCh37]
Chr2:2q31.1 |
benign|likely benign |
| NM_000210.4(ITGA6):c.*2374T>C |
single nucleotide variant |
Junctional epidermolysis bullosa with pyloric atresia [RCV000313218] |
Chr2:172506442 [GRCh38]
Chr2:173371170 [GRCh37]
Chr2:2q31.1 |
benign|likely benign |
| NM_000210.4(ITGA6):c.1708C>T (p.Gln570Ter) |
single nucleotide variant |
not provided [RCV002276083] |
Chr2:172484940 [GRCh38]
Chr2:173349668 [GRCh37]
Chr2:2q31.1 |
pathogenic |
| NM_000210.4(ITGA6):c.*308C>T |
single nucleotide variant |
Junctional epidermolysis bullosa with pyloric atresia [RCV000389121] |
Chr2:172504376 [GRCh38]
Chr2:173369104 [GRCh37]
Chr2:2q31.1 |
uncertain significance |
| NM_000210.4(ITGA6):c.*2088T>G |
single nucleotide variant |
Junctional epidermolysis bullosa with pyloric atresia [RCV000391216] |
Chr2:172506156 [GRCh38]
Chr2:173370884 [GRCh37]
Chr2:2q31.1 |
benign|uncertain significance |
| NM_000210.4(ITGA6):c.2538C>T (p.Leu846=) |
single nucleotide variant |
Epidermolysis bullosa, junctional 6, with pyloric atresia [RCV002479023]|Junctional epidermolysis bullosa with pyloric atresia [RCV001135715]|not provided [RCV000895935] |
Chr2:172489517 [GRCh38]
Chr2:173354245 [GRCh37]
Chr2:2q31.1 |
benign|likely benign |
| NM_000210.4(ITGA6):c.2296G>T (p.Asp766Tyr) |
single nucleotide variant |
ITGA6-related condition [RCV003912399]|Junctional epidermolysis bullosa with pyloric atresia [RCV000278674]|not provided [RCV000956002] |
Chr2:172487779 [GRCh38]
Chr2:173352507 [GRCh37]
Chr2:2q31.1 |
benign|likely benign |
| NM_000210.4(ITGA6):c.1855-7C>T |
single nucleotide variant |
not provided [RCV002596100] |
Chr2:172487016 [GRCh38]
Chr2:173351744 [GRCh37]
Chr2:2q31.1 |
likely benign |
| NM_000210.4(ITGA6):c.2058G>A (p.Arg686=) |
single nucleotide variant |
not provided [RCV002715807] |
Chr2:172487351 [GRCh38]
Chr2:173352079 [GRCh37]
Chr2:2q31.1 |
likely benign |
| NM_000210.4(ITGA6):c.2608A>G (p.Lys870Glu) |
single nucleotide variant |
Inborn genetic diseases [RCV002767718] |
Chr2:172489587 [GRCh38]
Chr2:173354315 [GRCh37]
Chr2:2q31.1 |
uncertain significance |
| NM_000210.4(ITGA6):c.2224C>T (p.Pro742Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV002772792] |
Chr2:172487610 [GRCh38]
Chr2:173352338 [GRCh37]
Chr2:2q31.1 |
uncertain significance |
| NM_000210.4(ITGA6):c.2063C>T (p.Pro688Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV002835979] |
Chr2:172487356 [GRCh38]
Chr2:173352084 [GRCh37]
Chr2:2q31.1 |
uncertain significance |
| NM_000210.4(ITGA6):c.2758G>A (p.Glu920Lys) |
single nucleotide variant |
Inborn genetic diseases [RCV002860020] |
Chr2:172491102 [GRCh38]
Chr2:173355830 [GRCh37]
Chr2:2q31.1 |
uncertain significance |
| NM_000210.4(ITGA6):c.1854T>C (p.Asp618=) |
single nucleotide variant |
not provided [RCV002904372] |
Chr2:172485264 [GRCh38]
Chr2:173349992 [GRCh37]
Chr2:2q31.1 |
uncertain significance |
| NM_000210.4(ITGA6):c.2333A>G (p.Asn778Ser) |
single nucleotide variant |
Inborn genetic diseases [RCV002955162] |
Chr2:172487969 [GRCh38]
Chr2:173352697 [GRCh37]
Chr2:2q31.1 |
uncertain significance |
| NM_000210.4(ITGA6):c.1645A>C (p.Thr549Pro) |
single nucleotide variant |
not provided [RCV002974885] |
Chr2:172484877 [GRCh38]
Chr2:173349605 [GRCh37]
Chr2:2q31.1 |
uncertain significance |
| NM_000210.4(ITGA6):c.2737A>G (p.Arg913Gly) |
single nucleotide variant |
Inborn genetic diseases [RCV002978632] |
Chr2:172491081 [GRCh38]
Chr2:173355809 [GRCh37]
Chr2:2q31.1 |
uncertain significance |
| NM_000210.4(ITGA6):c.2778+14A>G |
single nucleotide variant |
not provided [RCV003014389] |
Chr2:172491136 [GRCh38]
Chr2:173355864 [GRCh37]
Chr2:2q31.1 |
likely benign |
| NM_000210.4(ITGA6):c.3145C>G (p.His1049Asp) |
single nucleotide variant |
not provided [RCV003018680] |
Chr2:172501802 [GRCh38]
Chr2:173366530 [GRCh37]
Chr2:2q31.1 |
uncertain significance |
| NM_000210.4(ITGA6):c.*2309C>T |
single nucleotide variant |
Junctional epidermolysis bullosa with pyloric atresia [RCV001128943] |
Chr2:172506377 [GRCh38]
Chr2:173371105 [GRCh37]
Chr2:2q31.1 |
benign |
| NM_000210.4(ITGA6):c.*58T>C |
single nucleotide variant |
Epidermolysis bullosa, junctional 6, with pyloric atresia [RCV002497544]|Junctional epidermolysis bullosa with pyloric atresia [RCV001134346] |
Chr2:172504126 [GRCh38]
Chr2:173368854 [GRCh37]
Chr2:2q31.1 |
benign |
| NM_000210.4(ITGA6):c.*65C>G |
single nucleotide variant |
Junctional epidermolysis bullosa with pyloric atresia [RCV001134347] |
Chr2:172504133 [GRCh38]
Chr2:173368861 [GRCh37]
Chr2:2q31.1 |
uncertain significance |
| NM_000210.4(ITGA6):c.2543C>T (p.Thr848Ile) |
single nucleotide variant |
Junctional epidermolysis bullosa with pyloric atresia [RCV001135716] |
Chr2:172489522 [GRCh38]
Chr2:173354250 [GRCh37]
Chr2:2q31.1 |
uncertain significance |
| NM_000210.4(ITGA6):c.*101G>C |
single nucleotide variant |
Junctional epidermolysis bullosa with pyloric atresia [RCV001135814] |
Chr2:172504169 [GRCh38]
Chr2:173368897 [GRCh37]
Chr2:2q31.1 |
uncertain significance |
| NM_000210.4(ITGA6):c.3114+142G>C |
single nucleotide variant |
not provided [RCV001654263] |
Chr2:172498242 [GRCh38]
Chr2:173362970 [GRCh37]
Chr2:2q31.1 |
benign |
| NM_000210.4(ITGA6):c.2244+16A>C |
single nucleotide variant |
not provided [RCV001679898] |
Chr2:172487646 [GRCh38]
Chr2:173352374 [GRCh37]
Chr2:2q31.1 |
benign |
| NM_000210.4(ITGA6):c.2779-42A>C |
single nucleotide variant |
not provided [RCV001681642] |
Chr2:172491179 [GRCh38]
Chr2:173355907 [GRCh37]
Chr2:2q31.1 |
benign |
| NM_000210.4(ITGA6):c.1744A>G (p.Ile582Val) |
single nucleotide variant |
Junctional epidermolysis bullosa with pyloric atresia [RCV000309898]|not provided [RCV000968994] |
Chr2:172485154 [GRCh38]
Chr2:173349882 [GRCh37]
Chr2:2q31.1 |
benign|uncertain significance |
| NM_000210.4(ITGA6):c.2082C>T (p.Asp694=) |
single nucleotide variant |
Junctional epidermolysis bullosa with pyloric atresia [RCV000324684]|not provided [RCV001613080] |
Chr2:172487375 [GRCh38]
Chr2:173352103 [GRCh37]
Chr2:2q31.1 |
benign |
| NM_000210.4(ITGA6):c.*204_*205insT |
insertion |
Junctional epidermolysis bullosa with pyloric atresia [RCV000332266]|not provided [RCV001613081] |
Chr2:172504272..172504273 [GRCh38]
Chr2:173369000..173369001 [GRCh37]
Chr2:2q31.1 |
benign|likely benign |
| NM_000210.4(ITGA6):c.3114+177C>T |
single nucleotide variant |
not provided [RCV001654868] |
Chr2:172498277 [GRCh38]
Chr2:173363005 [GRCh37]
Chr2:2q31.1 |
benign |
| NM_000210.4(ITGA6):c.2506-99del |
deletion |
not provided [RCV001668824] |
Chr2:172489386 [GRCh38]
Chr2:173354114 [GRCh37]
Chr2:2q31.1 |
benign |
| GRCh38/hg38 2q31.1(chr2:172366752-176361187)x1 |
copy number loss |
See cases [RCV000052554] |
Chr2:172366752..176361187 [GRCh38]
Chr2:173231480..177225915 [GRCh37]
Chr2:172939726..176934161 [NCBI36]
Chr2:2q31.1 |
pathogenic |
| NM_000210.4(ITGA6):c.*1940dup |
duplication |
Junctional epidermolysis bullosa with pyloric atresia [RCV000282295] |
Chr2:172506006..172506007 [GRCh38]
Chr2:173370734..173370735 [GRCh37]
Chr2:2q31.1 |
likely benign |
| NM_000210.4(ITGA6):c.2393C>T (p.Ser798Leu) |
single nucleotide variant |
Junctional epidermolysis bullosa with pyloric atresia [RCV000317348] |
Chr2:172488029 [GRCh38]
Chr2:173352757 [GRCh37]
Chr2:2q31.1 |
uncertain significance |
| NM_000210.4(ITGA6):c.*1901dup |
duplication |
Junctional epidermolysis bullosa with pyloric atresia [RCV000322325] |
Chr2:172505961..172505962 [GRCh38]
Chr2:173370689..173370690 [GRCh37]
Chr2:2q31.1 |
likely benign |
| NM_000210.4(ITGA6):c.*1656G>T |
single nucleotide variant |
Junctional epidermolysis bullosa with pyloric atresia [RCV000322810] |
Chr2:172505724 [GRCh38]
Chr2:173370452 [GRCh37]
Chr2:2q31.1 |
uncertain significance |
| NM_000210.4(ITGA6):c.*751A>G |
single nucleotide variant |
Junctional epidermolysis bullosa with pyloric atresia [RCV000339493] |
Chr2:172504819 [GRCh38]
Chr2:173369547 [GRCh37]
Chr2:2q31.1 |
likely benign|uncertain significance |
| NM_000210.4(ITGA6):c.*1021_*1024dup |
duplication |
Junctional epidermolysis bullosa with pyloric atresia [RCV000369505] |
Chr2:172505085..172505086 [GRCh38]
Chr2:173369813..173369814 [GRCh37]
Chr2:2q31.1 |
uncertain significance |
| NM_000210.4(ITGA6):c.2651A>G (p.Gln884Arg) |
single nucleotide variant |
Junctional epidermolysis bullosa with pyloric atresia [RCV000388751]|not provided [RCV002521333] |
Chr2:172489630 [GRCh38]
Chr2:173354358 [GRCh37]
Chr2:2q31.1 |
likely benign|uncertain significance |
| NM_000210.4(ITGA6):c.2890-15A>C |
single nucleotide variant |
not provided [RCV002605482] |
Chr2:172491410 [GRCh38]
Chr2:173356138 [GRCh37]
Chr2:2q31.1 |
likely benign |
| NM_000210.4(ITGA6):c.2402+8T>A |
single nucleotide variant |
not provided [RCV002607979] |
Chr2:172488046 [GRCh38]
Chr2:173352774 [GRCh37]
Chr2:2q31.1 |
likely benign |
| NM_000210.4(ITGA6):c.1947A>G (p.Gln649=) |
single nucleotide variant |
not provided [RCV002623131] |
Chr2:172487115 [GRCh38]
Chr2:173351843 [GRCh37]
Chr2:2q31.1 |
likely benign |
| NM_000210.4(ITGA6):c.1781G>C (p.Arg594Pro) |
single nucleotide variant |
Inborn genetic diseases [RCV002911579] |
Chr2:172485191 [GRCh38]
Chr2:173349919 [GRCh37]
Chr2:2q31.1 |
uncertain significance |
| NM_000210.4(ITGA6):c.3106C>T (p.Leu1036=) |
single nucleotide variant |
not provided [RCV002937996] |
Chr2:172498092 [GRCh38]
Chr2:173362820 [GRCh37]
Chr2:2q31.1 |
likely benign |
| NM_000210.4(ITGA6):c.1943A>C (p.Asn648Thr) |
single nucleotide variant |
not provided [RCV002972074] |
Chr2:172487111 [GRCh38]
Chr2:173351839 [GRCh37]
Chr2:2q31.1 |
uncertain significance |
| NM_000210.4(ITGA6):c.2851A>T (p.Ile951Phe) |
single nucleotide variant |
Inborn genetic diseases [RCV002981611]|not provided [RCV003108210] |
Chr2:172491293 [GRCh38]
Chr2:173356021 [GRCh37]
Chr2:2q31.1 |
uncertain significance |
| NM_000210.4(ITGA6):c.2774C>T (p.Thr925Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV003006340]|not provided [RCV003006341] |
Chr2:172491118 [GRCh38]
Chr2:173355846 [GRCh37]
Chr2:2q31.1 |
uncertain significance |
| NM_000210.4(ITGA6):c.2989-6C>T |
single nucleotide variant |
Epidermolysis bullosa, junctional 6, with pyloric atresia [RCV002488707]|Junctional epidermolysis bullosa with pyloric atresia [RCV000301585]|not provided [RCV000883619] |
Chr2:172497969 [GRCh38]
Chr2:173362697 [GRCh37]
Chr2:2q31.1 |
benign|likely benign |
| NM_000210.4(ITGA6):c.2858G>A (p.Arg953His) |
single nucleotide variant |
Junctional epidermolysis bullosa with pyloric atresia [RCV000308413]|not provided [RCV000900532] |
Chr2:172491300 [GRCh38]
Chr2:173356028 [GRCh37]
Chr2:2q31.1 |
likely benign|uncertain significance |
| NM_000210.4(ITGA6):c.2862G>A (p.Ser954=) |
single nucleotide variant |
not provided [RCV000918182] |
Chr2:172491304 [GRCh38]
Chr2:173356032 [GRCh37]
Chr2:2q31.1 |
likely benign |
| NM_000210.4(ITGA6):c.2679+7C>T |
single nucleotide variant |
Epidermolysis bullosa, junctional 6, with pyloric atresia [RCV002495545]|not provided [RCV000922573] |
Chr2:172489665 [GRCh38]
Chr2:173354393 [GRCh37]
Chr2:2q31.1 |
likely benign |
| NM_000210.4(ITGA6):c.2680-14A>G |
single nucleotide variant |
Junctional epidermolysis bullosa with pyloric atresia [RCV001128721]|not provided [RCV003769236] |
Chr2:172491010 [GRCh38]
Chr2:173355738 [GRCh37]
Chr2:2q31.1 |
likely benign|uncertain significance |
| NM_000210.4(ITGA6):c.1850T>C (p.Ile617Thr) |
single nucleotide variant |
Epidermolysis bullosa, junctional 6, with pyloric atresia [RCV002491402]|Inborn genetic diseases [RCV004032297]|Junctional epidermolysis bullosa with pyloric atresia [RCV001134216]|not provided [RCV001354872] |
Chr2:172485260 [GRCh38]
Chr2:173349988 [GRCh37]
Chr2:2q31.1 |
benign|likely benign|uncertain significance |
| NM_000210.4(ITGA6):c.*1339T>A |
single nucleotide variant |
Junctional epidermolysis bullosa with pyloric atresia [RCV001134471] |
Chr2:172505407 [GRCh38]
Chr2:173370135 [GRCh37]
Chr2:2q31.1 |
likely benign |
| NM_000210.4(ITGA6):c.*1348C>T |
single nucleotide variant |
Junctional epidermolysis bullosa with pyloric atresia [RCV001134472] |
Chr2:172505416 [GRCh38]
Chr2:173370144 [GRCh37]
Chr2:2q31.1 |
uncertain significance |
| NM_000210.4(ITGA6):c.*1520T>G |
single nucleotide variant |
Junctional epidermolysis bullosa with pyloric atresia [RCV001134475] |
Chr2:172505588 [GRCh38]
Chr2:173370316 [GRCh37]
Chr2:2q31.1 |
uncertain significance |
| NM_000210.4(ITGA6):c.1971-30T>G |
single nucleotide variant |
not provided [RCV001692812] |
Chr2:172487234 [GRCh38]
Chr2:173351962 [GRCh37]
Chr2:2q31.1 |
benign |
| GRCh38/hg38 2q31.1-31.2(chr2:171513047-177854080)x1 |
copy number loss |
See cases [RCV000139646] |
Chr2:171513047..177854080 [GRCh38]
Chr2:172369557..178718807 [GRCh37]
Chr2:172077803..178427053 [NCBI36]
Chr2:2q31.1-31.2 |
pathogenic |
| NM_000210.4(ITGA6):c.2506-1G>C |
single nucleotide variant |
Epidermolysis bullosa, junctional 6, with pyloric atresia [RCV002052426] |
Chr2:172489484 [GRCh38]
Chr2:173354212 [GRCh37]
Chr2:2q31.1 |
pathogenic |
| NM_000210.4(ITGA6):c.*1809T>C |
single nucleotide variant |
Junctional epidermolysis bullosa with pyloric atresia [RCV000283646] |
Chr2:172505877 [GRCh38]
Chr2:173370605 [GRCh37]
Chr2:2q31.1 |
benign|likely benign |
| NM_000210.4(ITGA6):c.2792A>G (p.Asn931Ser) |
single nucleotide variant |
Epidermolysis bullosa, junctional 6, with pyloric atresia [RCV002504120]|Inborn genetic diseases [RCV004021780]|Junctional epidermolysis bullosa with pyloric atresia [RCV000290729]|not provided [RCV002521334] |
Chr2:172491234 [GRCh38]
Chr2:173355962 [GRCh37]
Chr2:2q31.1 |
uncertain significance |
| NM_000210.4(ITGA6):c.*1221C>T |
single nucleotide variant |
Junctional epidermolysis bullosa with pyloric atresia [RCV000367961] |
Chr2:172505289 [GRCh38]
Chr2:173370017 [GRCh37]
Chr2:2q31.1 |
uncertain significance |
| NM_000210.4(ITGA6):c.2796G>C (p.Val932=) |
single nucleotide variant |
not provided [RCV000940652] |
Chr2:172491238 [GRCh38]
Chr2:173355966 [GRCh37]
Chr2:2q31.1 |
likely benign |
| NM_000210.4(ITGA6):c.2982C>T (p.Gly994=) |
single nucleotide variant |
not provided [RCV002633125] |
Chr2:172491517 [GRCh38]
Chr2:173356245 [GRCh37]
Chr2:2q31.1 |
uncertain significance |
| NM_000210.4(ITGA6):c.3165C>T (p.His1055=) |
single nucleotide variant |
not provided [RCV002658883] |
Chr2:172501822 [GRCh38]
Chr2:173366550 [GRCh37]
Chr2:2q31.1 |
uncertain significance |
| NM_000210.4(ITGA6):c.3064A>G (p.Ile1022Val) |
single nucleotide variant |
Inborn genetic diseases [RCV002683358] |
Chr2:172498050 [GRCh38]
Chr2:173362778 [GRCh37]
Chr2:2q31.1 |
likely benign |
| NM_000210.4(ITGA6):c.2938_2939insT (p.Asp980fs) |
insertion |
Junctional epidermolysis bullosa with pyloric atresia [RCV001329697] |
Chr2:172491473..172491474 [GRCh38]
Chr2:173356201..173356202 [GRCh37]
Chr2:2q31.1 |
likely pathogenic |
| NM_000210.4(ITGA6):c.*747A>G |
single nucleotide variant |
Junctional epidermolysis bullosa with pyloric atresia [RCV001128832] |
Chr2:172504815 [GRCh38]
Chr2:173369543 [GRCh37]
Chr2:2q31.1 |
likely benign |
| NM_000210.4(ITGA6):c.*2124T>A |
single nucleotide variant |
Junctional epidermolysis bullosa with pyloric atresia [RCV001128940] |
Chr2:172506192 [GRCh38]
Chr2:173370920 [GRCh37]
Chr2:2q31.1 |
uncertain significance |
| NM_000210.4(ITGA6):c.2900A>C (p.Lys967Thr) |
single nucleotide variant |
Junctional epidermolysis bullosa with pyloric atresia [RCV001131344]|not provided [RCV001856699] |
Chr2:172491435 [GRCh38]
Chr2:173356163 [GRCh37]
Chr2:2q31.1 |
uncertain significance |
| NM_000210.4(ITGA6):c.*1135T>C |
single nucleotide variant |
Junctional epidermolysis bullosa with pyloric atresia [RCV001131487] |
Chr2:172505203 [GRCh38]
Chr2:173369931 [GRCh37]
Chr2:2q31.1 |
likely benign |
| NM_000210.4(ITGA6):c.*1459G>T |
single nucleotide variant |
Junctional epidermolysis bullosa with pyloric atresia [RCV000328635] |
Chr2:172505527 [GRCh38]
Chr2:173370255 [GRCh37]
Chr2:2q31.1 |
benign|likely benign |
| NM_000210.4(ITGA6):c.*678T>C |
single nucleotide variant |
Junctional epidermolysis bullosa with pyloric atresia [RCV000344217] |
Chr2:172504746 [GRCh38]
Chr2:173369474 [GRCh37]
Chr2:2q31.1 |
uncertain significance |
| NM_000210.4(ITGA6):c.*1660dup |
duplication |
Junctional epidermolysis bullosa with pyloric atresia [RCV000380967] |
Chr2:172505721..172505722 [GRCh38]
Chr2:173370449..173370450 [GRCh37]
Chr2:2q31.1 |
uncertain significance |
| NM_000210.4(ITGA6):c.2981G>A (p.Gly994Asp) |
single nucleotide variant |
not provided [RCV002578010] |
Chr2:172491516 [GRCh38]
Chr2:173356244 [GRCh37]
Chr2:2q31.1 |
uncertain significance |
| NM_000210.4(ITGA6):c.1752C>T (p.Ala584=) |
single nucleotide variant |
not provided [RCV002643760] |
Chr2:172485162 [GRCh38]
Chr2:173349890 [GRCh37]
Chr2:2q31.1 |
likely benign |
| NM_000210.4(ITGA6):c.2136A>G (p.Ala712=) |
single nucleotide variant |
not provided [RCV003112778] |
Chr2:172487429 [GRCh38]
Chr2:173352157 [GRCh37]
Chr2:2q31.1 |
likely benign |
| NM_000210.4(ITGA6):c.2505+104G>A |
single nucleotide variant |
not provided [RCV001665670] |
Chr2:172488332 [GRCh38]
Chr2:173353060 [GRCh37]
Chr2:2q31.1 |
benign |
| NM_000210.4(ITGA6):c.2788G>A (p.Val930Met) |
single nucleotide variant |
Junctional epidermolysis bullosa with pyloric atresia [RCV000387501]|not provided [RCV001690097] |
Chr2:172491230 [GRCh38]
Chr2:173355958 [GRCh37]
Chr2:2q31.1 |
benign|likely benign |
| NM_000210.4(ITGA6):c.2820G>A (p.Pro940=) |
single nucleotide variant |
Epidermolysis bullosa, junctional 6, with pyloric atresia [RCV002487466]|Junctional epidermolysis bullosa with pyloric atresia [RCV000392772]|not provided [RCV000968995] |
Chr2:172491262 [GRCh38]
Chr2:173355990 [GRCh37]
Chr2:2q31.1 |
benign|likely benign |
| NM_000210.4(ITGA6):c.3222G>A (p.Ter1074=) |
single nucleotide variant |
Epidermolysis bullosa, junctional 6, with pyloric atresia [RCV002487467]|Junctional epidermolysis bullosa with pyloric atresia [RCV000353064]|not provided [RCV000968996] |
Chr2:172501879 [GRCh38]
Chr2:173366607 [GRCh37]
Chr2:2q31.1 |
benign|likely benign |
| NM_000210.4(ITGA6):c.2821C>T (p.Leu941=) |
single nucleotide variant |
not provided [RCV003852771] |
Chr2:172491263 [GRCh38]
Chr2:173355991 [GRCh37]
Chr2:2q31.1 |
likely benign |
| NM_000210.4(ITGA6):c.1606A>G (p.Arg536Gly) |
single nucleotide variant |
Epidermolysis bullosa, junctional 6, with pyloric atresia [RCV003328117] |
Chr2:172484838 [GRCh38]
Chr2:173349566 [GRCh37]
Chr2:2q31.1 |
uncertain significance |
| NM_000210.4(ITGA6):c.2787C>T (p.Ser929=) |
single nucleotide variant |
not provided [RCV003873531] |
Chr2:172491229 [GRCh38]
Chr2:173355957 [GRCh37]
Chr2:2q31.1 |
likely benign |
| NM_000210.4(ITGA6):c.2505+12C>T |
single nucleotide variant |
not provided [RCV003571329] |
Chr2:172488240 [GRCh38]
Chr2:173352968 [GRCh37]
Chr2:2q31.1 |
likely benign |
| NM_000210.4(ITGA6):c.1857dup (p.His620fs) |
duplication |
not provided [RCV003570584] |
Chr2:172487023..172487024 [GRCh38]
Chr2:173351751..173351752 [GRCh37]
Chr2:2q31.1 |
pathogenic |
| NM_000210.4(ITGA6):c.1941A>G (p.Gly647=) |
single nucleotide variant |
not provided [RCV003570752] |
Chr2:172487109 [GRCh38]
Chr2:173351837 [GRCh37]
Chr2:2q31.1 |
likely benign |
| NM_000210.4(ITGA6):c.1684_1685del (p.Cys562fs) |
microsatellite |
not provided [RCV003571884] |
Chr2:172484913..172484914 [GRCh38]
Chr2:173349641..173349642 [GRCh37]
Chr2:2q31.1 |
pathogenic |
| NM_000210.4(ITGA6):c.3027G>A (p.Gln1009=) |
single nucleotide variant |
not provided [RCV003543615] |
Chr2:172498013 [GRCh38]
Chr2:173362741 [GRCh37]
Chr2:2q31.1 |
likely benign |
| NM_000210.4(ITGA6):c.2989-18T>G |
single nucleotide variant |
not provided [RCV003691369] |
Chr2:172497957 [GRCh38]
Chr2:173362685 [GRCh37]
Chr2:2q31.1 |
likely benign |
| NM_000210.4(ITGA6):c.2595G>A (p.Leu865=) |
single nucleotide variant |
not provided [RCV003876183] |
Chr2:172489574 [GRCh38]
Chr2:173354302 [GRCh37]
Chr2:2q31.1 |
likely benign |
| NM_000210.4(ITGA6):c.2400G>A (p.Ser800=) |
single nucleotide variant |
not provided [RCV003660143] |
Chr2:172488036 [GRCh38]
Chr2:173352764 [GRCh37]
Chr2:2q31.1 |
likely benign |
| NM_000210.4(ITGA6):c.1971-5A>G |
single nucleotide variant |
not provided [RCV003876616] |
Chr2:172487259 [GRCh38]
Chr2:173351987 [GRCh37]
Chr2:2q31.1 |
likely benign |
| NC_000002.12:g.172488124AG[1] |
microsatellite |
not provided [RCV003692339] |
Chr2:172488124..172488125 [GRCh38]
Chr2:173352852..173352853 [GRCh37]
Chr2:2q31.1 |
pathogenic |
| NM_000210.4(ITGA6):c.2010G>A (p.Lys670=) |
single nucleotide variant |
not provided [RCV003826036] |
Chr2:172487303 [GRCh38]
Chr2:173352031 [GRCh37]
Chr2:2q31.1 |
likely benign |
| NM_000210.4(ITGA6):c.2889+16G>T |
single nucleotide variant |
not provided [RCV003693504] |
Chr2:172491347 [GRCh38]
Chr2:173356075 [GRCh37]
Chr2:2q31.1 |
likely benign |
| NM_000210.4(ITGA6):c.1962T>C (p.Tyr654=) |
single nucleotide variant |
not provided [RCV003827344] |
Chr2:172487130 [GRCh38]
Chr2:173351858 [GRCh37]
Chr2:2q31.1 |
likely benign |
| NM_000210.4(ITGA6):c.2623_2632del (p.Gly875fs) |
deletion |
not provided [RCV003716339] |
Chr2:172489599..172489608 [GRCh38]
Chr2:173354327..173354336 [GRCh37]
Chr2:2q31.1 |
pathogenic |
| NM_000210.4(ITGA6):c.2399del (p.Ser800fs) |
deletion |
not provided [RCV003576486] |
Chr2:172488035 [GRCh38]
Chr2:173352763 [GRCh37]
Chr2:2q31.1 |
pathogenic |
| NM_000210.4(ITGA6):c.2245-12_2245-11del |
deletion |
not provided [RCV003660679] |
Chr2:172487715..172487716 [GRCh38]
Chr2:173352443..173352444 [GRCh37]
Chr2:2q31.1 |
likely benign |
| NM_000210.4(ITGA6):c.1550-12A>G |
single nucleotide variant |
not provided [RCV003716448] |
Chr2:172484770 [GRCh38]
Chr2:173349498 [GRCh37]
Chr2:2q31.1 |
likely benign |
| NM_000210.4(ITGA6):c.2889+16G>A |
single nucleotide variant |
not provided [RCV003831761] |
Chr2:172491347 [GRCh38]
Chr2:173356075 [GRCh37]
Chr2:2q31.1 |
likely benign |
| NM_000210.4(ITGA6):c.2779-13T>C |
single nucleotide variant |
not provided [RCV003695076] |
Chr2:172491208 [GRCh38]
Chr2:173355936 [GRCh37]
Chr2:2q31.1 |
likely benign |
| NM_000210.4(ITGA6):c.1971-9T>A |
single nucleotide variant |
not provided [RCV003577946] |
Chr2:172487255 [GRCh38]
Chr2:173351983 [GRCh37]
Chr2:2q31.1 |
likely benign |
| NM_000210.4(ITGA6):c.1854+7C>G |
single nucleotide variant |
not provided [RCV003696679] |
Chr2:172485271 [GRCh38]
Chr2:173349999 [GRCh37]
Chr2:2q31.1 |
likely benign |
| NM_000210.4(ITGA6):c.1945C>G (p.Gln649Glu) |
single nucleotide variant |
not provided [RCV003686735] |
Chr2:172487113 [GRCh38]
Chr2:173351841 [GRCh37]
Chr2:2q31.1 |
uncertain significance |
| NM_000210.4(ITGA6):c.2244+1G>A |
single nucleotide variant |
not provided [RCV003576518] |
Chr2:172487631 [GRCh38]
Chr2:173352359 [GRCh37]
Chr2:2q31.1 |
likely pathogenic |
| NM_000210.4(ITGA6):c.2691C>T (p.Asn897=) |
single nucleotide variant |
not provided [RCV003829942] |
Chr2:172491035 [GRCh38]
Chr2:173355763 [GRCh37]
Chr2:2q31.1 |
likely benign |
| NM_000210.4(ITGA6):c.2547A>G (p.Ala849=) |
single nucleotide variant |
not provided [RCV003663213] |
Chr2:172489526 [GRCh38]
Chr2:173354254 [GRCh37]
Chr2:2q31.1 |
likely benign |
| NM_000210.4(ITGA6):c.2046T>C (p.Pro682=) |
single nucleotide variant |
not provided [RCV003694939] |
Chr2:172487339 [GRCh38]
Chr2:173352067 [GRCh37]
Chr2:2q31.1 |
likely benign |
| NM_000210.4(ITGA6):c.2334T>C (p.Asn778=) |
single nucleotide variant |
not provided [RCV003693367] |
Chr2:172487970 [GRCh38]
Chr2:173352698 [GRCh37]
Chr2:2q31.1 |
likely benign |
| NM_000210.4(ITGA6):c.1550-19T>C |
single nucleotide variant |
not provided [RCV003830003] |
Chr2:172484763 [GRCh38]
Chr2:173349491 [GRCh37]
Chr2:2q31.1 |
likely benign |
| NM_000210.4(ITGA6):c.1990C>T (p.Leu664=) |
single nucleotide variant |
not provided [RCV003663232] |
Chr2:172487283 [GRCh38]
Chr2:173352011 [GRCh37]
Chr2:2q31.1 |
likely benign |
| NM_000210.4(ITGA6):c.2640T>C (p.Thr880=) |
single nucleotide variant |
not provided [RCV003545333] |
Chr2:172489619 [GRCh38]
Chr2:173354347 [GRCh37]
Chr2:2q31.1 |
likely benign |
| NM_000210.4(ITGA6):c.1729C>T (p.Leu577=) |
single nucleotide variant |
not provided [RCV003714925] |
Chr2:172485139 [GRCh38]
Chr2:173349867 [GRCh37]
Chr2:2q31.1 |
likely benign |
| NM_000210.4(ITGA6):c.2402+17A>T |
single nucleotide variant |
not provided [RCV003544279] |
Chr2:172488055 [GRCh38]
Chr2:173352783 [GRCh37]
Chr2:2q31.1 |
likely benign |
| NM_000210.4(ITGA6):c.3184C>T (p.Gln1062Ter) |
single nucleotide variant |
not provided [RCV003690075] |
Chr2:172501841 [GRCh38]
Chr2:173366569 [GRCh37]
Chr2:2q31.1 |
pathogenic |
| NM_000210.4(ITGA6):c.2160+16G>A |
single nucleotide variant |
not provided [RCV003829386] |
Chr2:172487469 [GRCh38]
Chr2:173352197 [GRCh37]
Chr2:2q31.1 |
likely benign |
| NM_000210.4(ITGA6):c.1855-20_1855-19del |
deletion |
not provided [RCV003829886] |
Chr2:172487002..172487003 [GRCh38]
Chr2:173351730..173351731 [GRCh37]
Chr2:2q31.1 |
likely benign |
| NM_000210.4(ITGA6):c.2902C>T (p.Leu968=) |
single nucleotide variant |
not provided [RCV003687425] |
Chr2:172491437 [GRCh38]
Chr2:173356165 [GRCh37]
Chr2:2q31.1 |
likely benign |
| NM_000210.4(ITGA6):c.2127C>T (p.Thr709=) |
single nucleotide variant |
not provided [RCV003662701] |
Chr2:172487420 [GRCh38]
Chr2:173352148 [GRCh37]
Chr2:2q31.1 |
likely benign |
| NM_000210.4(ITGA6):c.2211_2212del (p.Cys737_Glu738delinsTer) |
microsatellite |
not provided [RCV003544954] |
Chr2:172487595..172487596 [GRCh38]
Chr2:173352323..173352324 [GRCh37]
Chr2:2q31.1 |
pathogenic |
| NM_000210.4(ITGA6):c.2304T>C (p.Asp768=) |
single nucleotide variant |
not provided [RCV003714575] |
Chr2:172487787 [GRCh38]
Chr2:173352515 [GRCh37]
Chr2:2q31.1 |
likely benign |
| NM_000210.4(ITGA6):c.2448C>T (p.Gly816=) |
single nucleotide variant |
not provided [RCV003882030] |
Chr2:172488171 [GRCh38]
Chr2:173352899 [GRCh37]
Chr2:2q31.1 |
likely benign |
| NM_000210.4(ITGA6):c.1710+14A>C |
single nucleotide variant |
not provided [RCV003572467] |
Chr2:172484956 [GRCh38]
Chr2:173349684 [GRCh37]
Chr2:2q31.1 |
likely benign |
| NM_000210.4(ITGA6):c.2779-8C>A |
single nucleotide variant |
not provided [RCV003691389] |
Chr2:172491213 [GRCh38]
Chr2:173355941 [GRCh37]
Chr2:2q31.1 |
likely benign |
| NM_000210.4(ITGA6):c.2394G>C (p.Ser798=) |
single nucleotide variant |
not provided [RCV003663218] |
Chr2:172488030 [GRCh38]
Chr2:173352758 [GRCh37]
Chr2:2q31.1 |
likely benign |
| NM_000210.4(ITGA6):c.1710+1G>A |
single nucleotide variant |
not provided [RCV003576303] |
Chr2:172484943 [GRCh38]
Chr2:173349671 [GRCh37]
Chr2:2q31.1 |
likely pathogenic |
| NM_000210.4(ITGA6):c.2580C>T (p.Ser860=) |
single nucleotide variant |
not provided [RCV003661826] |
Chr2:172489559 [GRCh38]
Chr2:173354287 [GRCh37]
Chr2:2q31.1 |
likely benign |
| NM_000210.4(ITGA6):c.2880A>G (p.Thr960=) |
single nucleotide variant |
not provided [RCV003686806] |
Chr2:172491322 [GRCh38]
Chr2:173356050 [GRCh37]
Chr2:2q31.1 |
likely benign |
| NM_000210.4(ITGA6):c.2564G>A (p.Trp855Ter) |
single nucleotide variant |
not provided [RCV003544182] |
Chr2:172489543 [GRCh38]
Chr2:173354271 [GRCh37]
Chr2:2q31.1 |
pathogenic |
| NM_000210.4(ITGA6):c.3159A>G (p.Thr1053=) |
single nucleotide variant |
not provided [RCV003875811] |
Chr2:172501816 [GRCh38]
Chr2:173366544 [GRCh37]
Chr2:2q31.1 |
likely benign |
| NM_000210.4(ITGA6):c.1797A>G (p.Ser599=) |
single nucleotide variant |
not provided [RCV003686648] |
Chr2:172485207 [GRCh38]
Chr2:173349935 [GRCh37]
Chr2:2q31.1 |
likely benign |
| NM_000210.4(ITGA6):c.2988+18T>C |
single nucleotide variant |
not provided [RCV003580381] |
Chr2:172491541 [GRCh38]
Chr2:173356269 [GRCh37]
Chr2:2q31.1 |
likely benign |
| NM_000210.4(ITGA6):c.1881A>C (p.Gly627=) |
single nucleotide variant |
not provided [RCV003699676] |
Chr2:172487049 [GRCh38]
Chr2:173351777 [GRCh37]
Chr2:2q31.1 |
likely benign |
| NM_000210.4(ITGA6):c.2988+9T>C |
single nucleotide variant |
not provided [RCV003834782] |
Chr2:172491532 [GRCh38]
Chr2:173356260 [GRCh37]
Chr2:2q31.1 |
likely benign |
| NM_000210.4(ITGA6):c.2324+18C>T |
single nucleotide variant |
not provided [RCV003850397] |
Chr2:172487825 [GRCh38]
Chr2:173352553 [GRCh37]
Chr2:2q31.1 |
likely benign |
| NM_000210.4(ITGA6):c.2130T>C (p.Tyr710=) |
single nucleotide variant |
not provided [RCV003697820] |
Chr2:172487423 [GRCh38]
Chr2:173352151 [GRCh37]
Chr2:2q31.1 |
likely benign |
| NM_000210.4(ITGA6):c.1854+13_1854+16del |
deletion |
not provided [RCV003663571] |
Chr2:172485275..172485278 [GRCh38]
Chr2:173350003..173350006 [GRCh37]
Chr2:2q31.1 |
likely benign |
| NM_000210.4(ITGA6):c.1710+17_1710+18insCT |
insertion |
not provided [RCV003700015] |
Chr2:172484959..172484960 [GRCh38]
Chr2:173349687..173349688 [GRCh37]
Chr2:2q31.1 |
likely benign |
| NM_000210.4(ITGA6):c.1710+20_1710+21insTAAAA |
insertion |
not provided [RCV003700016] |
Chr2:172484961..172484962 [GRCh38]
Chr2:173349689..173349690 [GRCh37]
Chr2:2q31.1 |
likely benign |
| NM_000210.4(ITGA6):c.1550-11A>T |
single nucleotide variant |
not provided [RCV003698161] |
Chr2:172484771 [GRCh38]
Chr2:173349499 [GRCh37]
Chr2:2q31.1 |
likely benign |
| NM_000210.4(ITGA6):c.1855-5T>C |
single nucleotide variant |
not provided [RCV003674485] |
Chr2:172487018 [GRCh38]
Chr2:173351746 [GRCh37]
Chr2:2q31.1 |
likely benign |
| NM_000210.4(ITGA6):c.1776C>T (p.Ser592=) |
single nucleotide variant |
not provided [RCV003836560] |
Chr2:172485186 [GRCh38]
Chr2:173349914 [GRCh37]
Chr2:2q31.1 |
likely benign |
| NM_000210.4(ITGA6):c.3115-20_3115-19del |
deletion |
not provided [RCV003560829] |
Chr2:172501751..172501752 [GRCh38]
Chr2:173366479..173366480 [GRCh37]
Chr2:2q31.1 |
likely benign |
| NM_000210.4(ITGA6):c.2076C>T (p.Gly692=) |
single nucleotide variant |
not provided [RCV003548630] |
Chr2:172487369 [GRCh38]
Chr2:173352097 [GRCh37]
Chr2:2q31.1 |
likely benign |
| NM_000210.4(ITGA6):c.2889+12G>C |
single nucleotide variant |
not provided [RCV003838459] |
Chr2:172491343 [GRCh38]
Chr2:173356071 [GRCh37]
Chr2:2q31.1 |
likely benign |
| NM_000210.4(ITGA6):c.2961T>C (p.Asn987=) |
single nucleotide variant |
not provided [RCV003810893] |
Chr2:172491496 [GRCh38]
Chr2:173356224 [GRCh37]
Chr2:2q31.1 |
likely benign |
| NM_000210.4(ITGA6):c.2161-9C>G |
single nucleotide variant |
not provided [RCV003718107] |
Chr2:172487538 [GRCh38]
Chr2:173352266 [GRCh37]
Chr2:2q31.1 |
benign |
| NM_000210.4(ITGA6):c.2325-10dup |
duplication |
not provided [RCV003835239] |
Chr2:172487947..172487948 [GRCh38]
Chr2:173352675..173352676 [GRCh37]
Chr2:2q31.1 |
benign |
| NM_000210.4(ITGA6):c.1855-12G>A |
single nucleotide variant |
not provided [RCV003832586] |
Chr2:172487011 [GRCh38]
Chr2:173351739 [GRCh37]
Chr2:2q31.1 |
likely benign |
| NM_000210.4(ITGA6):c.2779-14C>A |
single nucleotide variant |
not provided [RCV003665881] |
Chr2:172491207 [GRCh38]
Chr2:173355935 [GRCh37]
Chr2:2q31.1 |
likely benign |
| NM_000210.4(ITGA6):c.1855-13C>T |
single nucleotide variant |
not provided [RCV003817419] |
Chr2:172487010 [GRCh38]
Chr2:173351738 [GRCh37]
Chr2:2q31.1 |
likely benign |
| NM_000210.4(ITGA6):c.2850T>C (p.Leu950=) |
single nucleotide variant |
not provided [RCV003703723] |
Chr2:172491292 [GRCh38]
Chr2:173356020 [GRCh37]
Chr2:2q31.1 |
likely benign |
| NM_000210.4(ITGA6):c.2680-16del |
deletion |
not provided [RCV003834748] |
Chr2:172491008 [GRCh38]
Chr2:173355736 [GRCh37]
Chr2:2q31.1 |
likely benign |
| NM_000210.4(ITGA6):c.2133T>C (p.Ser711=) |
single nucleotide variant |
not provided [RCV003580438] |
Chr2:172487426 [GRCh38]
Chr2:173352154 [GRCh37]
Chr2:2q31.1 |
likely benign |
| NM_000210.4(ITGA6):c.2859C>T (p.Arg953=) |
single nucleotide variant |
not provided [RCV003856255] |
Chr2:172491301 [GRCh38]
Chr2:173356029 [GRCh37]
Chr2:2q31.1 |
likely benign |
| NM_000210.4(ITGA6):c.1612C>T (p.Gln538Ter) |
single nucleotide variant |
not provided [RCV003673921] |
Chr2:172484844 [GRCh38]
Chr2:173349572 [GRCh37]
Chr2:2q31.1 |
pathogenic |
| NM_000210.4(ITGA6):c.2199G>A (p.Ser733=) |
single nucleotide variant |
not provided [RCV003726746] |
Chr2:172487585 [GRCh38]
Chr2:173352313 [GRCh37]
Chr2:2q31.1 |
likely benign |
| NM_000210.4(ITGA6):c.2844G>A (p.Ala948=) |
single nucleotide variant |
not provided [RCV003560725] |
Chr2:172491286 [GRCh38]
Chr2:173356014 [GRCh37]
Chr2:2q31.1 |
likely benign |
| NM_000210.4(ITGA6):c.2506-20T>A |
single nucleotide variant |
not provided [RCV003673130] |
Chr2:172489465 [GRCh38]
Chr2:173354193 [GRCh37]
Chr2:2q31.1 |
likely benign |
| NM_000210.4(ITGA6):c.2874C>T (p.Asn958=) |
single nucleotide variant |
not provided [RCV003831983] |
Chr2:172491316 [GRCh38]
Chr2:173356044 [GRCh37]
Chr2:2q31.1 |
likely benign |
| NM_000210.4(ITGA6):c.2988+8G>T |
single nucleotide variant |
not provided [RCV003723962] |
Chr2:172491531 [GRCh38]
Chr2:173356259 [GRCh37]
Chr2:2q31.1 |
likely benign |
| NM_000210.4(ITGA6):c.1711-12C>A |
single nucleotide variant |
not provided [RCV003701172] |
Chr2:172485109 [GRCh38]
Chr2:173349837 [GRCh37]
Chr2:2q31.1 |
likely benign |
| NM_000210.4(ITGA6):c.3189A>G (p.Pro1063=) |
single nucleotide variant |
not provided [RCV003726299] |
Chr2:172501846 [GRCh38]
Chr2:173366574 [GRCh37]
Chr2:2q31.1 |
likely benign |
| NM_000210.4(ITGA6):c.1855-4A>T |
single nucleotide variant |
not provided [RCV003664770] |
Chr2:172487019 [GRCh38]
Chr2:173351747 [GRCh37]
Chr2:2q31.1 |
likely benign |
| NM_000210.4(ITGA6):c.2181T>G (p.Val727=) |
single nucleotide variant |
not provided [RCV003855722] |
Chr2:172487567 [GRCh38]
Chr2:173352295 [GRCh37]
Chr2:2q31.1 |
likely benign |
| NM_000210.4(ITGA6):c.2103T>A (p.Ile701=) |
single nucleotide variant |
not provided [RCV003816762] |
Chr2:172487396 [GRCh38]
Chr2:173352124 [GRCh37]
Chr2:2q31.1 |
likely benign |
| NM_000210.4(ITGA6):c.1971-5A>T |
single nucleotide variant |
not provided [RCV003673416] |
Chr2:172487259 [GRCh38]
Chr2:173351987 [GRCh37]
Chr2:2q31.1 |
likely benign |
| NM_000210.4(ITGA6):c.2526T>C (p.Pro842=) |
single nucleotide variant |
not provided [RCV003666882] |
Chr2:172489505 [GRCh38]
Chr2:173354233 [GRCh37]
Chr2:2q31.1 |
likely benign |
| NM_000210.4(ITGA6):c.2514C>T (p.Asn838=) |
single nucleotide variant |
not provided [RCV003670029] |
Chr2:172489493 [GRCh38]
Chr2:173354221 [GRCh37]
Chr2:2q31.1 |
likely benign |
| NM_000210.4(ITGA6):c.2325-15C>A |
single nucleotide variant |
not provided [RCV003698719] |
Chr2:172487946 [GRCh38]
Chr2:173352674 [GRCh37]
Chr2:2q31.1 |
likely benign |
| NM_000210.4(ITGA6):c.1970+9C>T |
single nucleotide variant |
not provided [RCV003817376] |
Chr2:172487147 [GRCh38]
Chr2:173351875 [GRCh37]
Chr2:2q31.1 |
likely benign |
| NM_000210.4(ITGA6):c.2952T>C (p.Ala984=) |
single nucleotide variant |
not provided [RCV003701639] |
Chr2:172491487 [GRCh38]
Chr2:173356215 [GRCh37]
Chr2:2q31.1 |
likely benign |
| NM_000210.4(ITGA6):c.2890-16C>G |
single nucleotide variant |
not provided [RCV003668505] |
Chr2:172491409 [GRCh38]
Chr2:173356137 [GRCh37]
Chr2:2q31.1 |
likely benign |
| NM_000210.4(ITGA6):c.2779-9T>C |
single nucleotide variant |
not provided [RCV003838688] |
Chr2:172491212 [GRCh38]
Chr2:173355940 [GRCh37]
Chr2:2q31.1 |
likely benign |
| NM_000210.4(ITGA6):c.1710+12A>C |
single nucleotide variant |
not provided [RCV003672560] |
Chr2:172484954 [GRCh38]
Chr2:173349682 [GRCh37]
Chr2:2q31.1 |
likely benign |
| NM_000210.4(ITGA6):c.2680-12_2680-10del |
deletion |
not provided [RCV003666996] |
Chr2:172491010..172491012 [GRCh38]
Chr2:173355738..173355740 [GRCh37]
Chr2:2q31.1 |
likely benign |
| NM_000210.4(ITGA6):c.2865G>A (p.Arg955=) |
single nucleotide variant |
not provided [RCV003700329] |
Chr2:172491307 [GRCh38]
Chr2:173356035 [GRCh37]
Chr2:2q31.1 |
likely benign |
| NM_000210.4(ITGA6):c.3057A>G (p.Leu1019=) |
single nucleotide variant |
not provided [RCV003836952] |
Chr2:172498043 [GRCh38]
Chr2:173362771 [GRCh37]
Chr2:2q31.1 |
likely benign |
| NM_000210.4(ITGA6):c.1971-19G>A |
single nucleotide variant |
not provided [RCV003664936] |
Chr2:172487245 [GRCh38]
Chr2:173351973 [GRCh37]
Chr2:2q31.1 |
likely benign |
| NM_000210.4(ITGA6):c.1848T>C (p.His616=) |
single nucleotide variant |
not provided [RCV003700001] |
Chr2:172485258 [GRCh38]
Chr2:173349986 [GRCh37]
Chr2:2q31.1 |
likely benign |
| NM_000210.4(ITGA6):c.2538C>G (p.Leu846=) |
single nucleotide variant |
not provided [RCV003697471] |
Chr2:172489517 [GRCh38]
Chr2:173354245 [GRCh37]
Chr2:2q31.1 |
likely benign |
| NM_000210.4(ITGA6):c.2181T>C (p.Val727=) |
single nucleotide variant |
not provided [RCV003667464] |
Chr2:172487567 [GRCh38]
Chr2:173352295 [GRCh37]
Chr2:2q31.1 |
likely benign |
| NM_000210.4(ITGA6):c.1839G>A (p.Lys613=) |
single nucleotide variant |
not provided [RCV003664211] |
Chr2:172485249 [GRCh38]
Chr2:173349977 [GRCh37]
Chr2:2q31.1 |
likely benign |
| NM_000210.4(ITGA6):c.2161-17G>T |
single nucleotide variant |
not provided [RCV003814241] |
Chr2:172487530 [GRCh38]
Chr2:173352258 [GRCh37]
Chr2:2q31.1 |
likely benign |
| NM_000210.4(ITGA6):c.2779-9dup |
duplication |
not provided [RCV003700305] |
Chr2:172491207..172491208 [GRCh38]
Chr2:173355935..173355936 [GRCh37]
Chr2:2q31.1 |
benign |
| NM_000210.4(ITGA6):c.1884C>T (p.Asp628=) |
single nucleotide variant |
not provided [RCV003717502] |
Chr2:172487052 [GRCh38]
Chr2:173351780 [GRCh37]
Chr2:2q31.1 |
likely benign |
| NM_000210.4(ITGA6):c.1855-4A>G |
single nucleotide variant |
not provided [RCV003724862] |
Chr2:172487019 [GRCh38]
Chr2:173351747 [GRCh37]
Chr2:2q31.1 |
likely benign |
| NM_000210.4(ITGA6):c.2679+8G>T |
single nucleotide variant |
not provided [RCV003839119] |
Chr2:172489666 [GRCh38]
Chr2:173354394 [GRCh37]
Chr2:2q31.1 |
likely benign |
| NM_000210.4(ITGA6):c.1550-17A>T |
single nucleotide variant |
not provided [RCV003672052] |
Chr2:172484765 [GRCh38]
Chr2:173349493 [GRCh37]
Chr2:2q31.1 |
likely benign |
| NM_000210.4(ITGA6):c.2808C>T (p.Asn936=) |
single nucleotide variant |
not provided [RCV003579957] |
Chr2:172491250 [GRCh38]
Chr2:173355978 [GRCh37]
Chr2:2q31.1 |
likely benign |
| NM_000210.4(ITGA6):c.1860C>T (p.His620=) |
single nucleotide variant |
not provided [RCV003717299] |
Chr2:172487028 [GRCh38]
Chr2:173351756 [GRCh37]
Chr2:2q31.1 |
likely benign |
| NM_000210.4(ITGA6):c.1854+10T>C |
single nucleotide variant |
not provided [RCV003665754] |
Chr2:172485274 [GRCh38]
Chr2:173350002 [GRCh37]
Chr2:2q31.1 |
likely benign |
| NM_000210.4(ITGA6):c.1970+10G>A |
single nucleotide variant |
not provided [RCV003727288] |
Chr2:172487148 [GRCh38]
Chr2:173351876 [GRCh37]
Chr2:2q31.1 |
likely benign |
| NM_000210.4(ITGA6):c.2505+20C>T |
single nucleotide variant |
not provided [RCV003563076] |
Chr2:172488248 [GRCh38]
Chr2:173352976 [GRCh37]
Chr2:2q31.1 |
likely benign |
| NM_000210.4(ITGA6):c.3144T>C (p.Asp1048=) |
single nucleotide variant |
not provided [RCV003679749] |
Chr2:172501801 [GRCh38]
Chr2:173366529 [GRCh37]
Chr2:2q31.1 |
likely benign |
| NM_000210.4(ITGA6):c.2989-5T>C |
single nucleotide variant |
not provided [RCV003729408] |
Chr2:172497970 [GRCh38]
Chr2:173362698 [GRCh37]
Chr2:2q31.1 |
likely benign |
| NM_000210.4(ITGA6):c.2403-11del |
deletion |
not provided [RCV003857219] |
Chr2:172488110 [GRCh38]
Chr2:173352838 [GRCh37]
Chr2:2q31.1 |
benign |
| NM_000210.4(ITGA6):c.2170T>C (p.Leu724=) |
single nucleotide variant |
not provided [RCV003845560] |
Chr2:172487556 [GRCh38]
Chr2:173352284 [GRCh37]
Chr2:2q31.1 |
likely benign |
| NM_000210.4(ITGA6):c.2245-3dup |
duplication |
ITGA6-related condition [RCV003956517]|not provided [RCV003730923] |
Chr2:172487718..172487719 [GRCh38]
Chr2:173352446..173352447 [GRCh37]
Chr2:2q31.1 |
benign|likely benign |
| NM_000210.4(ITGA6):c.1920T>C (p.Tyr640=) |
single nucleotide variant |
not provided [RCV003824249] |
Chr2:172487088 [GRCh38]
Chr2:173351816 [GRCh37]
Chr2:2q31.1 |
likely benign |
| NM_000210.4(ITGA6):c.1890T>C (p.Asn630=) |
single nucleotide variant |
not provided [RCV003822765] |
Chr2:172487058 [GRCh38]
Chr2:173351786 [GRCh37]
Chr2:2q31.1 |
likely benign |
| NM_000210.4(ITGA6):c.2505+13A>C |
single nucleotide variant |
not provided [RCV003842464] |
Chr2:172488241 [GRCh38]
Chr2:173352969 [GRCh37]
Chr2:2q31.1 |
likely benign |
| NM_000210.4(ITGA6):c.2364A>G (p.Lys788=) |
single nucleotide variant |
not provided [RCV003708939] |
Chr2:172488000 [GRCh38]
Chr2:173352728 [GRCh37]
Chr2:2q31.1 |
likely benign |
| NM_000210.4(ITGA6):c.2244+10G>A |
single nucleotide variant |
not provided [RCV003706865] |
Chr2:172487640 [GRCh38]
Chr2:173352368 [GRCh37]
Chr2:2q31.1 |
likely benign |
| NM_000210.4(ITGA6):c.2679+16_2679+20del |
deletion |
not provided [RCV003846915] |
Chr2:172489673..172489677 [GRCh38]
Chr2:173354401..173354405 [GRCh37]
Chr2:2q31.1 |
likely benign |
| NM_000210.4(ITGA6):c.2988+13C>G |
single nucleotide variant |
not provided [RCV003682278] |
Chr2:172491536 [GRCh38]
Chr2:173356264 [GRCh37]
Chr2:2q31.1 |
likely benign |
| NM_000210.4(ITGA6):c.2244+11C>G |
single nucleotide variant |
not provided [RCV003821077] |
Chr2:172487641 [GRCh38]
Chr2:173352369 [GRCh37]
Chr2:2q31.1 |
likely benign |
| NM_000210.4(ITGA6):c.2926C>A (p.Arg976=) |
single nucleotide variant |
not provided [RCV003821686] |
Chr2:172491461 [GRCh38]
Chr2:173356189 [GRCh37]
Chr2:2q31.1 |
likely benign |
| NM_000210.4(ITGA6):c.2400G>C (p.Ser800=) |
single nucleotide variant |
not provided [RCV003683189] |
Chr2:172488036 [GRCh38]
Chr2:173352764 [GRCh37]
Chr2:2q31.1 |
likely benign |
| NM_000210.4(ITGA6):c.2217C>T (p.Leu739=) |
single nucleotide variant |
not provided [RCV003551150] |
Chr2:172487603 [GRCh38]
Chr2:173352331 [GRCh37]
Chr2:2q31.1 |
likely benign |
| NM_000210.4(ITGA6):c.2779-14C>T |
single nucleotide variant |
not provided [RCV003703730] |
Chr2:172491207 [GRCh38]
Chr2:173355935 [GRCh37]
Chr2:2q31.1 |
likely benign |
| NM_000210.4(ITGA6):c.2679+7C>A |
single nucleotide variant |
not provided [RCV003730653] |
Chr2:172489665 [GRCh38]
Chr2:173354393 [GRCh37]
Chr2:2q31.1 |
likely benign |
| NM_000210.4(ITGA6):c.2889+17A>G |
single nucleotide variant |
not provided [RCV003563043] |
Chr2:172491348 [GRCh38]
Chr2:173356076 [GRCh37]
Chr2:2q31.1 |
likely benign |
| NM_000210.4(ITGA6):c.2073T>C (p.Asp691=) |
single nucleotide variant |
not provided [RCV003819963] |
Chr2:172487366 [GRCh38]
Chr2:173352094 [GRCh37]
Chr2:2q31.1 |
likely benign |
| NM_000210.4(ITGA6):c.1854+18T>C |
single nucleotide variant |
not provided [RCV003568225] |
Chr2:172485282 [GRCh38]
Chr2:173350010 [GRCh37]
Chr2:2q31.1 |
likely benign |
| NM_000210.4(ITGA6):c.1761G>A (p.Glu587=) |
single nucleotide variant |
not provided [RCV003677727] |
Chr2:172485171 [GRCh38]
Chr2:173349899 [GRCh37]
Chr2:2q31.1 |
likely benign |
| NM_000210.4(ITGA6):c.2160+7A>G |
single nucleotide variant |
not provided [RCV003711742] |
Chr2:172487460 [GRCh38]
Chr2:173352188 [GRCh37]
Chr2:2q31.1 |
likely benign |
| NM_000210.4(ITGA6):c.1557G>A (p.Val519=) |
single nucleotide variant |
not provided [RCV003682909] |
Chr2:172484789 [GRCh38]
Chr2:173349517 [GRCh37]
Chr2:2q31.1 |
likely benign |
| NM_000210.4(ITGA6):c.2292C>T (p.Thr764=) |
single nucleotide variant |
not provided [RCV003861068] |
Chr2:172487775 [GRCh38]
Chr2:173352503 [GRCh37]
Chr2:2q31.1 |
likely benign |
| NM_000210.4(ITGA6):c.1854+6TC[2] |
microsatellite |
not provided [RCV003707548] |
Chr2:172485270..172485271 [GRCh38]
Chr2:173349998..173349999 [GRCh37]
Chr2:2q31.1 |
likely benign |
| NM_000210.4(ITGA6):c.2889+12del |
deletion |
not provided [RCV003682663] |
Chr2:172491342 [GRCh38]
Chr2:173356070 [GRCh37]
Chr2:2q31.1 |
likely benign |
| NM_000210.4(ITGA6):c.1854+16T>A |
single nucleotide variant |
not provided [RCV003683865] |
Chr2:172485280 [GRCh38]
Chr2:173350008 [GRCh37]
Chr2:2q31.1 |
likely benign |
| NM_000210.4(ITGA6):c.3099G>A (p.Val1033=) |
single nucleotide variant |
not provided [RCV003865860] |
Chr2:172498085 [GRCh38]
Chr2:173362813 [GRCh37]
Chr2:2q31.1 |
likely benign |
| NM_000210.4(ITGA6):c.3108A>G (p.Leu1036=) |
single nucleotide variant |
not provided [RCV003733974] |
Chr2:172498094 [GRCh38]
Chr2:173362822 [GRCh37]
Chr2:2q31.1 |
likely benign |
| NM_000210.4(ITGA6):c.2779-8C>T |
single nucleotide variant |
not provided [RCV003684802] |
Chr2:172491213 [GRCh38]
Chr2:173355941 [GRCh37]
Chr2:2q31.1 |
likely benign |
| NM_000210.4(ITGA6):c.2031A>G (p.Thr677=) |
single nucleotide variant |
not provided [RCV003550922] |
Chr2:172487324 [GRCh38]
Chr2:173352052 [GRCh37]
Chr2:2q31.1 |
likely benign |
| NM_000210.4(ITGA6):c.2205T>A (p.Ala735=) |
single nucleotide variant |
not provided [RCV003567303] |
Chr2:172487591 [GRCh38]
Chr2:173352319 [GRCh37]
Chr2:2q31.1 |
likely benign |
| NM_000210.4(ITGA6):c.2100G>A (p.Leu700=) |
single nucleotide variant |
not provided [RCV003854188] |
Chr2:172487393 [GRCh38]
Chr2:173352121 [GRCh37]
Chr2:2q31.1 |
likely benign |
| NM_000210.4(ITGA6):c.2778+18G>A |
single nucleotide variant |
not provided [RCV003683545] |
Chr2:172491140 [GRCh38]
Chr2:173355868 [GRCh37]
Chr2:2q31.1 |
likely benign |
| NM_000210.4(ITGA6):c.2680-20T>A |
single nucleotide variant |
not provided [RCV003859042] |
Chr2:172491004 [GRCh38]
Chr2:173355732 [GRCh37]
Chr2:2q31.1 |
likely benign |
| NM_000210.4(ITGA6):c.2769C>G (p.Tyr923Ter) |
single nucleotide variant |
not provided [RCV003564376] |
Chr2:172491113 [GRCh38]
Chr2:173355841 [GRCh37]
Chr2:2q31.1 |
pathogenic |
| NM_000210.4(ITGA6):c.2955C>T (p.Ala985=) |
single nucleotide variant |
not provided [RCV003729266] |
Chr2:172491490 [GRCh38]
Chr2:173356218 [GRCh37]
Chr2:2q31.1 |
likely benign |
| NM_000210.4(ITGA6):c.2244+19T>C |
single nucleotide variant |
not provided [RCV003719033] |
Chr2:172487649 [GRCh38]
Chr2:173352377 [GRCh37]
Chr2:2q31.1 |
likely benign |
| NM_000210.4(ITGA6):c.2889+10T>G |
single nucleotide variant |
not provided [RCV003719039] |
Chr2:172491341 [GRCh38]
Chr2:173356069 [GRCh37]
Chr2:2q31.1 |
likely benign |
| NM_000210.4(ITGA6):c.2505+12C>G |
single nucleotide variant |
not provided [RCV003704634] |
Chr2:172488240 [GRCh38]
Chr2:173352968 [GRCh37]
Chr2:2q31.1 |
likely benign |
| NM_000210.4(ITGA6):c.2679+21_2679+23del |
deletion |
not provided [RCV003679978] |
Chr2:172489678..172489680 [GRCh38]
Chr2:173354406..173354408 [GRCh37]
Chr2:2q31.1 |
likely benign |
| NM_000210.4(ITGA6):c.3009C>T (p.Pro1003=) |
single nucleotide variant |
not provided [RCV003685842] |
Chr2:172497995 [GRCh38]
Chr2:173362723 [GRCh37]
Chr2:2q31.1 |
likely benign |
| NM_000210.4(ITGA6):c.1635G>A (p.Glu545=) |
single nucleotide variant |
ITGA6-related condition [RCV003966601]|not provided [RCV003722416] |
Chr2:172484867 [GRCh38]
Chr2:173349595 [GRCh37]
Chr2:2q31.1 |
likely benign |
| NM_000210.4(ITGA6):c.2402+11_2402+16del |
microsatellite |
not provided [RCV003566132] |
Chr2:172488043..172488048 [GRCh38]
Chr2:173352771..173352776 [GRCh37]
Chr2:2q31.1 |
likely benign |
| NM_000210.4(ITGA6):c.2506-2A>C |
single nucleotide variant |
not provided [RCV003721289] |
Chr2:172489483 [GRCh38]
Chr2:173354211 [GRCh37]
Chr2:2q31.1 |
likely pathogenic |
| NM_000210.4(ITGA6):c.2680-4dup |
duplication |
not provided [RCV003685747] |
Chr2:172491013..172491014 [GRCh38]
Chr2:173355741..173355742 [GRCh37]
Chr2:2q31.1 |
benign |
| NM_000210.4(ITGA6):c.3115-4G>C |
single nucleotide variant |
not provided [RCV003822462] |
Chr2:172501768 [GRCh38]
Chr2:173366496 [GRCh37]
Chr2:2q31.1 |
likely benign |
| NM_000210.4(ITGA6):c.2680-18G>T |
single nucleotide variant |
not provided [RCV003845265] |
Chr2:172491006 [GRCh38]
Chr2:173355734 [GRCh37]
Chr2:2q31.1 |
likely benign |
| NM_000210.4(ITGA6):c.1710+13G>T |
single nucleotide variant |
not provided [RCV003869950] |
Chr2:172484955 [GRCh38]
Chr2:173349683 [GRCh37]
Chr2:2q31.1 |
likely benign |
| NM_000210.4(ITGA6):c.2394G>A (p.Ser798=) |
single nucleotide variant |
not provided [RCV003819950] |
Chr2:172488030 [GRCh38]
Chr2:173352758 [GRCh37]
Chr2:2q31.1 |
likely benign |
| NM_000210.4(ITGA6):c.3033G>A (p.Ser1011=) |
single nucleotide variant |
not provided [RCV003722182] |
Chr2:172498019 [GRCh38]
Chr2:173362747 [GRCh37]
Chr2:2q31.1 |
likely benign |
| NM_000210.4(ITGA6):c.2403-12T>C |
single nucleotide variant |
not provided [RCV003685569] |
Chr2:172488114 [GRCh38]
Chr2:173352842 [GRCh37]
Chr2:2q31.1 |
likely benign |
| NM_000210.4(ITGA6):c.2679+8G>A |
single nucleotide variant |
not provided [RCV003858896] |
Chr2:172489666 [GRCh38]
Chr2:173354394 [GRCh37]
Chr2:2q31.1 |
likely benign |
| NM_000210.4(ITGA6):c.3114+15G>A |
single nucleotide variant |
not provided [RCV003711610] |
Chr2:172498115 [GRCh38]
Chr2:173362843 [GRCh37]
Chr2:2q31.1 |
likely benign |
| NM_000210.4(ITGA6):c.1590A>G (p.Lys530=) |
single nucleotide variant |
not provided [RCV003711642] |
Chr2:172484822 [GRCh38]
Chr2:173349550 [GRCh37]
Chr2:2q31.1 |
likely benign |
| NM_000210.4(ITGA6):c.1755A>G (p.Ser585=) |
single nucleotide variant |
not provided [RCV003553071] |
Chr2:172485165 [GRCh38]
Chr2:173349893 [GRCh37]
Chr2:2q31.1 |
likely benign |
| NM_000210.4(ITGA6):c.2989-16C>A |
single nucleotide variant |
not provided [RCV003710329] |
Chr2:172497959 [GRCh38]
Chr2:173362687 [GRCh37]
Chr2:2q31.1 |
likely benign |
| NM_000210.4(ITGA6):c.2193T>C (p.Asn731=) |
single nucleotide variant |
not provided [RCV003710316] |
Chr2:172487579 [GRCh38]
Chr2:173352307 [GRCh37]
Chr2:2q31.1 |
likely benign |
| NM_000210.4(ITGA6):c.3219A>T (p.Ala1073=) |
single nucleotide variant |
not provided [RCV003857956] |
Chr2:172501876 [GRCh38]
Chr2:173366604 [GRCh37]
Chr2:2q31.1 |
likely benign |
| NM_000210.4(ITGA6):c.2154T>C (p.Ala718=) |
single nucleotide variant |
not provided [RCV003553199] |
Chr2:172487447 [GRCh38]
Chr2:173352175 [GRCh37]
Chr2:2q31.1 |
likely benign |
| NM_000210.4(ITGA6):c.2402+20A>C |
single nucleotide variant |
not provided [RCV003820704] |
Chr2:172488058 [GRCh38]
Chr2:173352786 [GRCh37]
Chr2:2q31.1 |
likely benign |
| NM_000210.4(ITGA6):c.1550-7T>C |
single nucleotide variant |
not provided [RCV003705009] |
Chr2:172484775 [GRCh38]
Chr2:173349503 [GRCh37]
Chr2:2q31.1 |
likely benign |
| NM_000210.4(ITGA6):c.3021A>G (p.Val1007=) |
single nucleotide variant |
not provided [RCV003865828] |
Chr2:172498007 [GRCh38]
Chr2:173362735 [GRCh37]
Chr2:2q31.1 |
likely benign |
| NM_000210.4(ITGA6):c.2052C>T (p.Asn684=) |
single nucleotide variant |
not provided [RCV003679738] |
Chr2:172487345 [GRCh38]
Chr2:173352073 [GRCh37]
Chr2:2q31.1 |
likely benign |
| NM_000210.4(ITGA6):c.2394G>T (p.Ser798=) |
single nucleotide variant |
not provided [RCV003712157] |
Chr2:172488030 [GRCh38]
Chr2:173352758 [GRCh37]
Chr2:2q31.1 |
likely benign |
| NM_000210.4(ITGA6):c.2211T>C (p.Cys737=) |
single nucleotide variant |
not provided [RCV003553283] |
Chr2:172487597 [GRCh38]
Chr2:173352325 [GRCh37]
Chr2:2q31.1 |
likely benign |
| NM_000210.4(ITGA6):c.2061T>C (p.Asn687=) |
single nucleotide variant |
not provided [RCV003857178] |
Chr2:172487354 [GRCh38]
Chr2:173352082 [GRCh37]
Chr2:2q31.1 |
likely benign |
| NM_000210.4(ITGA6):c.2829G>A (p.Gly943=) |
single nucleotide variant |
not provided [RCV003728662] |
Chr2:172491271 [GRCh38]
Chr2:173355999 [GRCh37]
Chr2:2q31.1 |
likely benign |
| NM_000210.4(ITGA6):c.2161-17GT[2] |
microsatellite |
not provided [RCV003706491] |
Chr2:172487530..172487531 [GRCh38]
Chr2:173352258..173352259 [GRCh37]
Chr2:2q31.1 |
likely benign |
| NM_000210.4(ITGA6):c.3018T>C (p.Thr1006=) |
single nucleotide variant |
not provided [RCV003728938] |
Chr2:172498004 [GRCh38]
Chr2:173362732 [GRCh37]
Chr2:2q31.1 |
likely benign |
| NM_000210.4(ITGA6):c.2779-14_2779-12del |
microsatellite |
not provided [RCV003821339] |
Chr2:172491202..172491204 [GRCh38]
Chr2:173355930..173355932 [GRCh37]
Chr2:2q31.1 |
likely benign |
| NM_000210.4(ITGA6):c.2968C>T (p.Leu990=) |
single nucleotide variant |
not provided [RCV003861967] |
Chr2:172491503 [GRCh38]
Chr2:173356231 [GRCh37]
Chr2:2q31.1 |
likely benign |
| NM_000210.4(ITGA6):c.2324+16A>C |
single nucleotide variant |
not provided [RCV003845045] |
Chr2:172487823 [GRCh38]
Chr2:173352551 [GRCh37]
Chr2:2q31.1 |
likely benign |
| NM_000210.4(ITGA6):c.1932C>T (p.Thr644=) |
single nucleotide variant |
ITGA6-related condition [RCV003929376]|not provided [RCV003863255] |
Chr2:172487100 [GRCh38]
Chr2:173351828 [GRCh37]
Chr2:2q31.1 |
likely benign |
| NM_000210.4(ITGA6):c.1854+11C>G |
single nucleotide variant |
not provided [RCV003550950] |
Chr2:172485275 [GRCh38]
Chr2:173350003 [GRCh37]
Chr2:2q31.1 |
likely benign |
| NM_000210.4(ITGA6):c.1710+11dup |
duplication |
not provided [RCV003679566] |
Chr2:172484952..172484953 [GRCh38]
Chr2:173349680..173349681 [GRCh37]
Chr2:2q31.1 |
likely benign |
| NM_000210.4(ITGA6):c.1855-20T>C |
single nucleotide variant |
not provided [RCV003859130] |
Chr2:172487003 [GRCh38]
Chr2:173351731 [GRCh37]
Chr2:2q31.1 |
likely benign |
| NM_000210.4(ITGA6):c.2388T>G (p.Leu796=) |
single nucleotide variant |
not provided [RCV003731483] |
Chr2:172488024 [GRCh38]
Chr2:173352752 [GRCh37]
Chr2:2q31.1 |
likely benign |
| NM_000210.4(ITGA6):c.1996C>T (p.Leu666=) |
single nucleotide variant |
not provided [RCV003542150] |
Chr2:172487289 [GRCh38]
Chr2:173352017 [GRCh37]
Chr2:2q31.1 |
likely benign |
| NM_000210.4(ITGA6):c.3220T>C (p.Ter1074Gln) |
single nucleotide variant |
Epidermolysis bullosa, junctional 6, with pyloric atresia [RCV003993651] |
Chr2:172501877 [GRCh38]
Chr2:173366605 [GRCh37]
Chr2:2q31.1 |
likely benign |
| NM_000210.4(ITGA6):c.2679+6T>G |
single nucleotide variant |
ITGA6-related condition [RCV003911435] |
Chr2:172489664 [GRCh38]
Chr2:173354392 [GRCh37]
Chr2:2q31.1 |
likely benign |
| NM_002610.5(PDK1):c.166C>T (p.Pro56Ser) |
single nucleotide variant |
not specified [RCV004503361] |
Chr2:172556316 [GRCh38]
Chr2:173421044 [GRCh37]
Chr2:2q31.1 |
uncertain significance |
| NM_002610.5(PDK1):c.50C>A (p.Pro17Gln) |
single nucleotide variant |
not specified [RCV004503366] |
Chr2:172556200 [GRCh38]
Chr2:173420928 [GRCh37]
Chr2:2q31.1 |
uncertain significance |
| NM_002610.5(PDK1):c.83T>G (p.Phe28Cys) |
single nucleotide variant |
not specified [RCV004503368] |
Chr2:172556233 [GRCh38]
Chr2:173420961 [GRCh37]
Chr2:2q31.1 |
uncertain significance |
| NM_000210.4(ITGA6):c.2578A>C (p.Ser860Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV004405632] |
Chr2:172489557 [GRCh38]
Chr2:173354285 [GRCh37]
Chr2:2q31.1 |
uncertain significance |
| NM_000210.4(ITGA6):c.2765A>C (p.Lys922Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV004405633] |
Chr2:172491109 [GRCh38]
Chr2:173355837 [GRCh37]
Chr2:2q31.1 |
uncertain significance |
| NM_000210.4(ITGA6):c.3001G>A (p.Val1001Met) |
single nucleotide variant |
Inborn genetic diseases [RCV004405634] |
Chr2:172497987 [GRCh38]
Chr2:173362715 [GRCh37]
Chr2:2q31.1 |
uncertain significance |
