| NM_033004.4(NLRP1):c.1675C>G (p.Leu559Val) |
single nucleotide variant |
not provided [RCV000520367] |
Chr17:5559021 [GRCh38]
Chr17:5462341 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.464T>A (p.Leu155His) |
single nucleotide variant |
Autoinflammation with arthritis and dyskeratosis [RCV001781176]|Corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome [RCV001781175]|Respiratory papillomatosis, juvenile recurrent, congenital [RCV001781177]|Vitiligo-associated multiple autoimmune disease susceptibility 1 [RCV000004380]|not provided [RCV001510771]|not specified [RCV003390641] |
Chr17:5582047 [GRCh38]
Chr17:5485367 [GRCh37]
Chr17:17p13.2 |
risk factor|benign |
| NM_033004.4(NLRP1):c.230T>C (p.Met77Thr) |
single nucleotide variant |
Corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome [RCV000043505] |
Chr17:5583728 [GRCh38]
Chr17:5487048 [GRCh37]
Chr17:17p13.2 |
pathogenic |
| GRCh38/hg38 17p13.3-13.2(chr17:193307-5652222)x1 |
copy number loss |
See cases [RCV000053384] |
Chr17:193307..5652222 [GRCh38]
Chr17:45835..5555542 [GRCh37]
Chr17:43098..5496266 [NCBI36]
Chr17:17p13.3-13.2 |
pathogenic |
| GRCh38/hg38 17p13.2-13.1(chr17:3601515-7178024)x1 |
copy number loss |
See cases [RCV000053406] |
Chr17:3601515..7178024 [GRCh38]
Chr17:3504809..7081343 [GRCh37]
Chr17:3451558..7022067 [NCBI36]
Chr17:17p13.2-13.1 |
pathogenic |
| NM_001033053.3(NLRP1):c.*351T>A |
single nucleotide variant |
not provided [RCV000089273] |
Chr17:5501463 [GRCh38]
Chr17:5404783 [GRCh37]
Chr17:17p13.2 |
not provided |
| NM_033004.4(NLRP1):c.-159C>T |
single nucleotide variant |
not provided [RCV000089274] |
Chr17:5584116 [GRCh38]
Chr17:5487436 [GRCh37]
Chr17:17p13.2 |
not provided |
| NM_033004.4(NLRP1):c.1916A>T (p.Asp639Val) |
single nucleotide variant |
not provided [RCV000089275] |
Chr17:5558780 [GRCh38]
Chr17:5462100 [GRCh37]
Chr17:17p13.2 |
not provided |
| NM_033004.4(NLRP1):c.2529-18G>T |
single nucleotide variant |
not provided [RCV000089276] |
Chr17:5542045 [GRCh38]
Chr17:5445365 [GRCh37]
Chr17:17p13.2 |
likely benign|uncertain significance|not provided |
| NM_033004.4(NLRP1):c.2699+368G>A |
single nucleotide variant |
not provided [RCV000089277] |
Chr17:5541489 [GRCh38]
Chr17:5444809 [GRCh37]
Chr17:17p13.2 |
not provided |
| NM_033004.4(NLRP1):c.271+181G>A |
single nucleotide variant |
not provided [RCV000089278] |
Chr17:5583506 [GRCh38]
Chr17:5486826 [GRCh37]
Chr17:17p13.2 |
not provided |
| NM_033004.4(NLRP1):c.271+186G>A |
single nucleotide variant |
not provided [RCV000089279] |
Chr17:5583501 [GRCh38]
Chr17:5486821 [GRCh37]
Chr17:17p13.2 |
not provided |
| NM_033004.4(NLRP1):c.2817G>A (p.Val939=) |
single nucleotide variant |
not provided [RCV000089280] |
Chr17:5539468 [GRCh38]
Chr17:5442788 [GRCh37]
Chr17:17p13.2 |
not provided |
| NM_033004.4(NLRP1):c.2870+58A>G |
single nucleotide variant |
not provided [RCV000089281] |
Chr17:5539357 [GRCh38]
Chr17:5442677 [GRCh37]
Chr17:17p13.2 |
not provided |
| NM_033004.4(NLRP1):c.3186T>G (p.Pro1062=) |
single nucleotide variant |
not provided [RCV000089282] |
Chr17:5532932 [GRCh38]
Chr17:5436252 [GRCh37]
Chr17:17p13.2 |
likely benign|not provided |
| NM_033004.4(NLRP1):c.3521-107G>A |
single nucleotide variant |
not provided [RCV000089283] |
Chr17:5521893 [GRCh38]
Chr17:5425213 [GRCh37]
Chr17:17p13.2 |
not provided |
| NM_033004.4(NLRP1):c.3521-91A>G |
single nucleotide variant |
not provided [RCV000089284] |
Chr17:5521877 [GRCh38]
Chr17:5425197 [GRCh37]
Chr17:17p13.2 |
not provided |
| NM_033004.4(NLRP1):c.3747C>A (p.His1249Gln) |
single nucleotide variant |
not provided [RCV000089285] |
Chr17:5521560 [GRCh38]
Chr17:5424880 [GRCh37]
Chr17:17p13.2 |
uncertain significance|not provided |
| NM_033004.4(NLRP1):c.3784-240C>G |
single nucleotide variant |
not provided [RCV000089286] |
Chr17:5521252 [GRCh38]
Chr17:5424572 [GRCh37]
Chr17:17p13.2 |
not provided |
| NM_033004.4(NLRP1):c.3915+121G>C |
single nucleotide variant |
not provided [RCV000089287] |
Chr17:5520760 [GRCh38]
Chr17:5424080 [GRCh37]
Chr17:17p13.2 |
not provided |
| NM_033004.4(NLRP1):c.4057+205G>C |
single nucleotide variant |
not provided [RCV000089288] |
Chr17:5517541 [GRCh38]
Chr17:5420861 [GRCh37]
Chr17:17p13.2 |
not provided |
| NM_033004.4(NLRP1):c.4057+217T>C |
single nucleotide variant |
not provided [RCV000089289] |
Chr17:5517529 [GRCh38]
Chr17:5420849 [GRCh37]
Chr17:17p13.2 |
not provided |
| NM_033004.4(NLRP1):c.4103-161A>G |
single nucleotide variant |
not provided [RCV000089290] |
Chr17:5515234 [GRCh38]
Chr17:5418554 [GRCh37]
Chr17:17p13.2 |
not provided |
| NM_033004.4(NLRP1):c.438C>A (p.Arg146=) |
single nucleotide variant |
not provided [RCV000089291] |
Chr17:5582680 [GRCh38]
Chr17:5486000 [GRCh37]
Chr17:17p13.2 |
likely benign|not provided |
| NM_033004.4(NLRP1):c.448+109C>G |
single nucleotide variant |
not provided [RCV000089292] |
Chr17:5582561 [GRCh38]
Chr17:5485881 [GRCh37]
Chr17:17p13.2 |
not provided |
| NM_033004.4(NLRP1):c.448+292C>T |
single nucleotide variant |
not provided [RCV000089293] |
Chr17:5582378 [GRCh38]
Chr17:5485698 [GRCh37]
Chr17:17p13.2 |
not provided |
| NM_033004.4(NLRP1):c.2818C>T (p.Arg940Ter) |
single nucleotide variant |
Malignant tumor of prostate [RCV000149322]|not provided [RCV001850023] |
Chr17:5539467 [GRCh38]
Chr17:5442787 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| GRCh38/hg38 17p13.3-13.1(chr17:162088-6959050)x1 |
copy number loss |
See cases [RCV000134135] |
Chr17:162088..6959050 [GRCh38]
Chr17:45835..6862369 [GRCh37]
Chr17:11879..6803093 [NCBI36]
Chr17:17p13.3-13.1 |
pathogenic |
| GRCh38/hg38 17p13.3-13.1(chr17:198748-7491129)x3 |
copy number gain |
See cases [RCV000134970] |
Chr17:198748..7491129 [GRCh38]
Chr17:50690..7394448 [GRCh37]
Chr17:48539..7335172 [NCBI36]
Chr17:17p13.3-13.1 |
pathogenic |
| GRCh38/hg38 17p13.2(chr17:5385377-5943772)x3 |
copy number gain |
See cases [RCV000134892] |
Chr17:5385377..5943772 [GRCh38]
Chr17:5288697..5847092 [GRCh37]
Chr17:5229421..5787816 [NCBI36]
Chr17:17p13.2 |
uncertain significance |
| GRCh38/hg38 17p13.2(chr17:5537991-5808557)x3 |
copy number gain |
See cases [RCV000135829] |
Chr17:5537991..5808557 [GRCh38]
Chr17:5441311..5711877 [GRCh37]
Chr17:5382035..5652601 [NCBI36]
Chr17:17p13.2 |
benign |
| GRCh38/hg38 17p13.2(chr17:4044302-5943772)x1 |
copy number loss |
See cases [RCV000135548] |
Chr17:4044302..5943772 [GRCh38]
Chr17:3947596..5847092 [GRCh37]
Chr17:3894345..5787816 [NCBI36]
Chr17:17p13.2 |
likely pathogenic |
| GRCh38/hg38 17p13.3-13.1(chr17:162016-7697012)x1 |
copy number loss |
See cases [RCV000138214] |
Chr17:162016..7697012 [GRCh38]
Chr17:45835..7600330 [GRCh37]
Chr17:11807..7541055 [NCBI36]
Chr17:17p13.3-13.1 |
pathogenic |
| GRCh38/hg38 17p13.3-12(chr17:162016-12343901)x3 |
copy number gain |
See cases [RCV000138531] |
Chr17:162016..12343901 [GRCh38]
Chr17:45835..12247218 [GRCh37]
Chr17:11807..12187943 [NCBI36]
Chr17:17p13.3-12 |
pathogenic |
| GRCh38/hg38 17p13.2(chr17:5503990-5695008)x3 |
copy number gain |
See cases [RCV000141287] |
Chr17:5503990..5695008 [GRCh38]
Chr17:5407310..5598328 [GRCh37]
Chr17:5348034..5539052 [NCBI36]
Chr17:17p13.2 |
uncertain significance |
| GRCh38/hg38 17p13.3-13.2(chr17:150732-5935377)x1 |
copy number loss |
See cases [RCV000141658] |
Chr17:150732..5935377 [GRCh38]
Chr17:525..5838697 [GRCh37]
Chr17:525..5779421 [NCBI36]
Chr17:17p13.3-13.2 |
pathogenic |
| GRCh38/hg38 17p13.2(chr17:5252176-5761432)x3 |
copy number gain |
See cases [RCV000142136] |
Chr17:5252176..5761432 [GRCh38]
Chr17:5155471..5664752 [GRCh37]
Chr17:5096195..5605476 [NCBI36]
Chr17:17p13.2 |
uncertain significance |
| GRCh38/hg38 17p13.3-12(chr17:150732-14764202)x3 |
copy number gain |
See cases [RCV000142236] |
Chr17:150732..14764202 [GRCh38]
Chr17:525..14667519 [GRCh37]
Chr17:525..14608244 [NCBI36]
Chr17:17p13.3-12 |
pathogenic |
| NM_033004.4(NLRP1):c.922C>T (p.Arg308Ter) |
single nucleotide variant |
Corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome [RCV000490416] |
Chr17:5559774 [GRCh38]
Chr17:5463094 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.4313G>A (p.Arg1438Gln) |
single nucleotide variant |
NLRP1-related condition [RCV003403408]|not provided [RCV000591977] |
Chr17:5514863 [GRCh38]
Chr17:5418183 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.1732G>A (p.Gly578Ser) |
single nucleotide variant |
not provided [RCV000522815] |
Chr17:5558964 [GRCh38]
Chr17:5462284 [GRCh37]
Chr17:17p13.2 |
conflicting interpretations of pathogenicity|uncertain significance |
| GRCh37/hg19 17p13.2(chr17:5407259-5504316)x3 |
copy number gain |
See cases [RCV000446166] |
Chr17:5407259..5504316 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.2176C>T (p.Arg726Trp) |
single nucleotide variant |
Autoinflammation with arthritis and dyskeratosis [RCV000445355]|not provided [RCV001865408] |
Chr17:5558520 [GRCh38]
Chr17:5461840 [GRCh37]
Chr17:17p13.2 |
pathogenic|uncertain significance |
| NM_033004.4(NLRP1):c.3641C>G (p.Pro1214Arg) |
single nucleotide variant |
Autoinflammation with arthritis and dyskeratosis [RCV000445359]|not provided [RCV002526366] |
Chr17:5521666 [GRCh38]
Chr17:5424986 [GRCh37]
Chr17:17p13.2 |
pathogenic|likely pathogenic |
| NM_001033053.2(NLRP1):c.2358-?_2528+?del |
deletion |
Corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome [RCV000445352] |
Chr17:5553385..5553557 [GRCh38]
Chr17:5456705..5456877 [GRCh37]
Chr17:17p13.2 |
pathogenic |
| GRCh37/hg19 17p13.2(chr17:5449811-5725241)x3 |
copy number gain |
See cases [RCV000445745] |
Chr17:5449811..5725241 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| GRCh37/hg19 17p13.3-13.1(chr17:1113102-6742486) |
copy number gain |
See cases [RCV000445679] |
Chr17:1113102..6742486 [GRCh37]
Chr17:17p13.3-13.1 |
pathogenic |
| NM_033004.4(NLRP1):c.197C>T (p.Ala66Val) |
single nucleotide variant |
Corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome [RCV000416502]|not provided [RCV000479210] |
Chr17:5583761 [GRCh38]
Chr17:5487081 [GRCh37]
Chr17:17p13.2 |
pathogenic|likely pathogenic |
| NM_033004.4(NLRP1):c.160G>A (p.Ala54Thr) |
single nucleotide variant |
Corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome [RCV000416558] |
Chr17:5583798 [GRCh38]
Chr17:5487118 [GRCh37]
Chr17:17p13.2 |
pathogenic |
| NM_033004.4(NLRP1):c.114G>C (p.Ser38=) |
single nucleotide variant |
Autoinflammation with arthritis and dyskeratosis [RCV001782921]|Corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome [RCV001782920]|NLRP1-related condition [RCV003972727]|Respiratory papillomatosis, juvenile recurrent, congenital [RCV001782922]|not provided [RCV001516486]|not specified [RCV000455000] |
Chr17:5583844 [GRCh38]
Chr17:5487164 [GRCh37]
Chr17:17p13.2 |
benign |
| NM_033004.4(NLRP1):c.3551T>C (p.Met1184Thr) |
single nucleotide variant |
not specified [RCV000455449] |
Chr17:5521756 [GRCh38]
Chr17:5425076 [GRCh37]
Chr17:17p13.2 |
benign |
| NM_033004.4(NLRP1):c.3550A>G (p.Met1184Val) |
single nucleotide variant |
Autoinflammation with arthritis and dyskeratosis [RCV001782918]|Corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome [RCV001782917]|Respiratory papillomatosis, juvenile recurrent, congenital [RCV001782919]|not provided [RCV001512625]|not specified [RCV000455985] |
Chr17:5521757 [GRCh38]
Chr17:5425077 [GRCh37]
Chr17:17p13.2 |
benign |
| NM_033004.4(NLRP1):c.1340C>T (p.Thr447Ile) |
single nucleotide variant |
not provided [RCV000497388] |
Chr17:5559356 [GRCh38]
Chr17:5462676 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938) |
copy number gain |
See cases [RCV000511439] |
Chr17:526..81041938 [GRCh37]
Chr17:17p13.3-q25.3 |
pathogenic |
| GRCh37/hg19 17p13.3-12(chr17:525-15027737)x3 |
copy number gain |
See cases [RCV000511786] |
Chr17:525..15027737 [GRCh37]
Chr17:17p13.3-12 |
pathogenic |
| NM_033004.4(NLRP1):c.2087_2088del (p.Gln696fs) |
deletion |
NLRP1-related condition [RCV003434310]|not provided [RCV001571074] |
Chr17:5558608..5558609 [GRCh38]
Chr17:5461928..5461929 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3 |
copy number gain |
See cases [RCV000512441] |
Chr17:526..81041938 [GRCh37]
Chr17:17p13.3-q25.3 |
pathogenic |
| NM_033004.4(NLRP1):c.158_161del (p.Val53fs) |
deletion |
not provided [RCV000627473] |
Chr17:5583797..5583800 [GRCh38]
Chr17:5487117..5487120 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| GRCh37/hg19 17p13.3-12(chr17:525-11186432)x3 |
copy number gain |
not provided [RCV000683866] |
Chr17:525..11186432 [GRCh37]
Chr17:17p13.3-12 |
pathogenic |
| GRCh37/hg19 17p13.3-q25.3(chr17:8547-81060040)x3 |
copy number gain |
not provided [RCV000739324] |
Chr17:8547..81060040 [GRCh37]
Chr17:17p13.3-q25.3 |
pathogenic |
| GRCh37/hg19 17p13.3-q25.3(chr17:7214-81058310)x3 |
copy number gain |
not provided [RCV000739320] |
Chr17:7214..81058310 [GRCh37]
Chr17:17p13.3-q25.3 |
pathogenic |
| GRCh37/hg19 17p13.3-q25.3(chr17:12344-81057996)x3 |
copy number gain |
not provided [RCV000739325] |
Chr17:12344..81057996 [GRCh37]
Chr17:17p13.3-q25.3 |
pathogenic |
| NM_033004.4(NLRP1):c.446G>C (p.Arg149Thr) |
single nucleotide variant |
not provided [RCV000896035] |
Chr17:5582672 [GRCh38]
Chr17:5485992 [GRCh37]
Chr17:17p13.2 |
likely benign |
| NM_033004.4(NLRP1):c.3784-4G>A |
single nucleotide variant |
not provided [RCV000762195] |
Chr17:5521016 [GRCh38]
Chr17:5424336 [GRCh37]
Chr17:17p13.2 |
benign|likely benign |
| NM_033004.4(NLRP1):c.1599G>T (p.Gln533His) |
single nucleotide variant |
NLRP1-related condition [RCV003918246]|not provided [RCV000762196] |
Chr17:5559097 [GRCh38]
Chr17:5462417 [GRCh37]
Chr17:17p13.2 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_033004.4(NLRP1):c.1531A>G (p.Lys511Glu) |
single nucleotide variant |
Inborn genetic diseases [RCV003166026]|not provided [RCV000762197] |
Chr17:5559165 [GRCh38]
Chr17:5462485 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.1845C>T (p.Ile615=) |
single nucleotide variant |
not provided [RCV000970022] |
Chr17:5558851 [GRCh38]
Chr17:5462171 [GRCh37]
Chr17:17p13.2 |
benign|likely benign |
| NM_033004.4(NLRP1):c.3852T>C (p.Leu1284=) |
single nucleotide variant |
not provided [RCV000928007] |
Chr17:5520944 [GRCh38]
Chr17:5424264 [GRCh37]
Chr17:17p13.2 |
likely benign |
| NM_033004.4(NLRP1):c.2407G>A (p.Val803Ile) |
single nucleotide variant |
not provided [RCV000905654] |
Chr17:5553507 [GRCh38]
Chr17:5456827 [GRCh37]
Chr17:17p13.2 |
likely benign |
| NM_033004.4(NLRP1):c.144G>A (p.Thr48=) |
single nucleotide variant |
not provided [RCV000904380] |
Chr17:5583814 [GRCh38]
Chr17:5487134 [GRCh37]
Chr17:17p13.2 |
benign |
| NM_033004.4(NLRP1):c.2322G>A (p.Gln774=) |
single nucleotide variant |
NLRP1-related condition [RCV003950653]|not provided [RCV000905684] |
Chr17:5558374 [GRCh38]
Chr17:5461694 [GRCh37]
Chr17:17p13.2 |
likely benign |
| NM_033004.4(NLRP1):c.1061G>A (p.Gly354Asp) |
single nucleotide variant |
not provided [RCV000970318] |
Chr17:5559635 [GRCh38]
Chr17:5462955 [GRCh37]
Chr17:17p13.2 |
benign |
| NM_033004.4(NLRP1):c.1103G>C (p.Ser368Thr) |
single nucleotide variant |
not provided [RCV000882057] |
Chr17:5559593 [GRCh38]
Chr17:5462913 [GRCh37]
Chr17:17p13.2 |
benign|likely benign|conflicting interpretations of pathogenicity |
| NM_033004.4(NLRP1):c.847C>T (p.Leu283Phe) |
single nucleotide variant |
not provided [RCV000966022] |
Chr17:5559849 [GRCh38]
Chr17:5463169 [GRCh37]
Chr17:17p13.2 |
benign |
| NM_033004.4(NLRP1):c.1113G>A (p.Glu371=) |
single nucleotide variant |
not provided [RCV000901989] |
Chr17:5559583 [GRCh38]
Chr17:5462903 [GRCh37]
Chr17:17p13.2 |
benign |
| NM_033004.4(NLRP1):c.4057+8C>G |
single nucleotide variant |
NLRP1-related condition [RCV003960600]|not provided [RCV000948987] |
Chr17:5517738 [GRCh38]
Chr17:5421058 [GRCh37]
Chr17:17p13.2 |
benign|likely benign |
| NM_033004.4(NLRP1):c.4263G>A (p.Thr1421=) |
single nucleotide variant |
not provided [RCV000923885] |
Chr17:5514913 [GRCh38]
Chr17:5418233 [GRCh37]
Chr17:17p13.2 |
likely benign |
| NM_033004.4(NLRP1):c.2529-9C>A |
single nucleotide variant |
not provided [RCV000983395] |
Chr17:5542036 [GRCh38]
Chr17:5445356 [GRCh37]
Chr17:17p13.2 |
likely benign |
| NM_033004.4(NLRP1):c.1211G>A (p.Arg404Gln) |
single nucleotide variant |
not provided [RCV000899909] |
Chr17:5559485 [GRCh38]
Chr17:5462805 [GRCh37]
Chr17:17p13.2 |
benign |
| NM_033004.4(NLRP1):c.2870+8C>T |
single nucleotide variant |
not provided [RCV000922112] |
Chr17:5539407 [GRCh38]
Chr17:5442727 [GRCh37]
Chr17:17p13.2 |
likely benign |
| NM_033004.4(NLRP1):c.3518A>G (p.Gln1173Arg) |
single nucleotide variant |
not provided [RCV000882056] |
Chr17:5530483 [GRCh38]
Chr17:5433803 [GRCh37]
Chr17:17p13.2 |
benign|likely benign|conflicting interpretations of pathogenicity |
| NM_033004.4(NLRP1):c.1977A>G (p.Ala659=) |
single nucleotide variant |
NLRP1-related condition [RCV003912929]|not provided [RCV000904812] |
Chr17:5558719 [GRCh38]
Chr17:5462039 [GRCh37]
Chr17:17p13.2 |
likely benign |
| NM_033004.4(NLRP1):c.1887C>A (p.Phe629Leu) |
single nucleotide variant |
not provided [RCV000898910]|not specified [RCV001731972] |
Chr17:5558809 [GRCh38]
Chr17:5462129 [GRCh37]
Chr17:17p13.2 |
benign |
| NM_033004.4(NLRP1):c.3691G>A (p.Val1231Ile) |
single nucleotide variant |
not provided [RCV000971644] |
Chr17:5521616 [GRCh38]
Chr17:5424936 [GRCh37]
Chr17:17p13.2 |
benign |
| NM_033004.4(NLRP1):c.2043G>A (p.Glu681=) |
single nucleotide variant |
not provided [RCV000921217] |
Chr17:5558653 [GRCh38]
Chr17:5461973 [GRCh37]
Chr17:17p13.2 |
likely benign |
| GRCh37/hg19 17p13.3-13.2(chr17:47546-6287620) |
copy number gain |
Chromosome 17P13.3, telomeric, duplication syndrome [RCV000767586] |
Chr17:47546..6287620 [GRCh37]
Chr17:17p13.3-13.2 |
pathogenic |
| GRCh37/hg19 17p13.3-13.2(chr17:8547-5627408)x1 |
copy number loss |
See cases [RCV001007429] |
Chr17:8547..5627408 [GRCh37]
Chr17:17p13.3-13.2 |
pathogenic |
| NM_033004.4(NLRP1):c.2082G>A (p.Leu694=) |
single nucleotide variant |
not provided [RCV000922393] |
Chr17:5558614 [GRCh38]
Chr17:5461934 [GRCh37]
Chr17:17p13.2 |
benign |
| NM_033004.4(NLRP1):c.406G>A (p.Val136Ile) |
single nucleotide variant |
NLRP1-related condition [RCV003392687]|not provided [RCV000905557] |
Chr17:5582712 [GRCh38]
Chr17:5486032 [GRCh37]
Chr17:17p13.2 |
likely benign|uncertain significance |
| NM_033004.4(NLRP1):c.316G>A (p.Gly106Arg) |
single nucleotide variant |
Vitiligo-associated multiple autoimmune disease susceptibility 1 [RCV002502919]|not provided [RCV000949999] |
Chr17:5582802 [GRCh38]
Chr17:5486122 [GRCh37]
Chr17:17p13.2 |
likely benign |
| NM_033004.4(NLRP1):c.3372C>T (p.Thr1124=) |
single nucleotide variant |
not provided [RCV000939629] |
Chr17:5530629 [GRCh38]
Chr17:5433949 [GRCh37]
Chr17:17p13.2 |
likely benign |
| NM_033004.4(NLRP1):c.3654C>A (p.Leu1218=) |
single nucleotide variant |
not provided [RCV000894238] |
Chr17:5521653 [GRCh38]
Chr17:5424973 [GRCh37]
Chr17:17p13.2 |
likely benign |
| NM_033004.4(NLRP1):c.525C>T (p.Asn175=) |
single nucleotide variant |
NLRP1-related condition [RCV003930483]|not provided [RCV000879415] |
Chr17:5581986 [GRCh38]
Chr17:5485306 [GRCh37]
Chr17:17p13.2 |
benign |
| NM_033004.4(NLRP1):c.272-7C>G |
single nucleotide variant |
Vitiligo-associated multiple autoimmune disease susceptibility 1 [RCV002487982]|not provided [RCV000909561] |
Chr17:5582853 [GRCh38]
Chr17:5486173 [GRCh37]
Chr17:17p13.2 |
likely benign |
| NM_033004.4(NLRP1):c.2211T>C (p.His737=) |
single nucleotide variant |
not provided [RCV000916419] |
Chr17:5558485 [GRCh38]
Chr17:5461805 [GRCh37]
Chr17:17p13.2 |
likely benign |
| NM_033004.4(NLRP1):c.1189C>G (p.Gln397Glu) |
single nucleotide variant |
NLRP1-related condition [RCV003962840]|not provided [RCV000967433] |
Chr17:5559507 [GRCh38]
Chr17:5462827 [GRCh37]
Chr17:17p13.2 |
likely benign |
| NM_033004.4(NLRP1):c.2721G>A (p.Thr907=) |
single nucleotide variant |
not provided [RCV000976635] |
Chr17:5539564 [GRCh38]
Chr17:5442884 [GRCh37]
Chr17:17p13.2 |
likely benign |
| GRCh37/hg19 17p13.2(chr17:5442135-5725241)x3 |
copy number gain |
not provided [RCV000848882] |
Chr17:5442135..5725241 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.4014C>G (p.Asp1338Glu) |
single nucleotide variant |
not provided [RCV001090633] |
Chr17:5517789 [GRCh38]
Chr17:5421109 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.4181C>A (p.Thr1394Lys) |
single nucleotide variant |
Corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome [RCV000989683] |
Chr17:5514995 [GRCh38]
Chr17:5418315 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.3973G>A (p.Val1325Ile) |
single nucleotide variant |
not provided [RCV001090634] |
Chr17:5517830 [GRCh38]
Chr17:5421150 [GRCh37]
Chr17:17p13.2 |
likely benign|conflicting interpretations of pathogenicity |
| NM_033004.4(NLRP1):c.3034C>T (p.Arg1012Trp) |
single nucleotide variant |
not provided [RCV000788933] |
Chr17:5533915 [GRCh38]
Chr17:5437235 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.2311G>A (p.Glu771Lys) |
single nucleotide variant |
NLRP1-related condition [RCV003396372]|not provided [RCV000788945] |
Chr17:5558385 [GRCh38]
Chr17:5461705 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.2864_2865del (p.Arg955fs) |
deletion |
not provided [RCV000788796] |
Chr17:5539420..5539421 [GRCh38]
Chr17:5442740..5442741 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| GRCh37/hg19 17p13.2(chr17:3759126-6128911)x1 |
copy number loss |
not provided [RCV000849625] |
Chr17:3759126..6128911 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| GRCh37/hg19 17p13.2(chr17:5378522-5692834)x3 |
copy number gain |
not provided [RCV001006864] |
Chr17:5378522..5692834 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.1594C>G (p.Gln532Glu) |
single nucleotide variant |
Inborn genetic diseases [RCV003290902] |
Chr17:5559102 [GRCh38]
Chr17:5462422 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.4006G>C (p.Val1336Leu) |
single nucleotide variant |
not provided [RCV000996462] |
Chr17:5517797 [GRCh38]
Chr17:5421117 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.3153A>G (p.Val1051=) |
single nucleotide variant |
not provided [RCV000996463] |
Chr17:5532965 [GRCh38]
Chr17:5436285 [GRCh37]
Chr17:17p13.2 |
likely benign |
| NM_033004.4(NLRP1):c.2528G>A (p.Arg843Gln) |
single nucleotide variant |
not provided [RCV000996464] |
Chr17:5553386 [GRCh38]
Chr17:5456706 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.2341C>A (p.Pro781Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV002549939]|not provided [RCV000996465] |
Chr17:5558355 [GRCh38]
Chr17:5461675 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.1228G>A (p.Asp410Asn) |
single nucleotide variant |
not provided [RCV000996466] |
Chr17:5559468 [GRCh38]
Chr17:5462788 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.923G>A (p.Arg308Gln) |
single nucleotide variant |
NLRP1-related condition [RCV003943305]|Vitiligo-associated multiple autoimmune disease susceptibility 1 [RCV002489497]|not provided [RCV000996467] |
Chr17:5559773 [GRCh38]
Chr17:5463093 [GRCh37]
Chr17:17p13.2 |
likely benign |
| NM_033004.4(NLRP1):c.790del (p.Cys264fs) |
deletion |
Autoinflammation with arthritis and dyskeratosis [RCV001198015]|not provided [RCV000996468] |
Chr17:5559906 [GRCh38]
Chr17:5463226 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| GRCh37/hg19 17p13.2(chr17:5456876-5487832)x3 |
copy number gain |
not provided [RCV000996630] |
Chr17:5456876..5487832 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.790T>C (p.Cys264Arg) |
single nucleotide variant |
not provided [RCV001172110] |
Chr17:5559906 [GRCh38]
Chr17:5463226 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.4129C>T (p.Gln1377Ter) |
single nucleotide variant |
not provided [RCV003107110] |
Chr17:5515047 [GRCh38]
Chr17:5418367 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.1801A>T (p.Ile601Phe) |
single nucleotide variant |
NLRP1-related condition [RCV003926157]|not provided [RCV000961456] |
Chr17:5558895 [GRCh38]
Chr17:5462215 [GRCh37]
Chr17:17p13.2 |
benign |
| NM_033004.4(NLRP1):c.2841G>C (p.Arg947Ser) |
single nucleotide variant |
not provided [RCV000887233] |
Chr17:5539444 [GRCh38]
Chr17:5442764 [GRCh37]
Chr17:17p13.2 |
likely benign |
| NM_033004.4(NLRP1):c.3053-4G>C |
single nucleotide variant |
not provided [RCV000980886] |
Chr17:5533388 [GRCh38]
Chr17:5436708 [GRCh37]
Chr17:17p13.2 |
likely benign |
| NM_033004.4(NLRP1):c.2871-10G>A |
single nucleotide variant |
not provided [RCV000881974] |
Chr17:5536950 [GRCh38]
Chr17:5440270 [GRCh37]
Chr17:17p13.2 |
benign |
| NM_033004.4(NLRP1):c.3000G>A (p.Thr1000=) |
single nucleotide variant |
not provided [RCV000942282] |
Chr17:5533949 [GRCh38]
Chr17:5437269 [GRCh37]
Chr17:17p13.2 |
likely benign |
| NM_033004.4(NLRP1):c.2406C>T (p.Ser802=) |
single nucleotide variant |
not provided [RCV000962461] |
Chr17:5553508 [GRCh38]
Chr17:5456828 [GRCh37]
Chr17:17p13.2 |
benign |
| NM_033004.4(NLRP1):c.1140C>T (p.Leu380=) |
single nucleotide variant |
not provided [RCV000924447] |
Chr17:5559556 [GRCh38]
Chr17:5462876 [GRCh37]
Chr17:17p13.2 |
likely benign |
| NM_033004.4(NLRP1):c.1342A>G (p.Ile448Val) |
single nucleotide variant |
not provided [RCV000894230] |
Chr17:5559354 [GRCh38]
Chr17:5462674 [GRCh37]
Chr17:17p13.2 |
benign |
| NM_033004.4(NLRP1):c.2973G>A (p.Val991=) |
single nucleotide variant |
not provided [RCV000953367] |
Chr17:5533976 [GRCh38]
Chr17:5437296 [GRCh37]
Chr17:17p13.2 |
benign |
| NM_033004.4(NLRP1):c.4128G>A (p.Pro1376=) |
single nucleotide variant |
not provided [RCV000885777] |
Chr17:5515048 [GRCh38]
Chr17:5418368 [GRCh37]
Chr17:17p13.2 |
likely benign |
| NM_033004.4(NLRP1):c.2605G>A (p.Glu869Lys) |
single nucleotide variant |
not provided [RCV000955000] |
Chr17:5541951 [GRCh38]
Chr17:5445271 [GRCh37]
Chr17:17p13.2 |
benign|conflicting interpretations of pathogenicity |
| NM_033004.4(NLRP1):c.2187G>A (p.Thr729=) |
single nucleotide variant |
not provided [RCV000942994] |
Chr17:5558509 [GRCh38]
Chr17:5461829 [GRCh37]
Chr17:17p13.2 |
likely benign |
| NM_033004.4(NLRP1):c.2145T>C (p.Ser715=) |
single nucleotide variant |
not provided [RCV001200109] |
Chr17:5558551 [GRCh38]
Chr17:5461871 [GRCh37]
Chr17:17p13.2 |
likely benign |
| NM_033004.4(NLRP1):c.3205C>T (p.His1069Tyr) |
single nucleotide variant |
not provided [RCV000957535] |
Chr17:5532913 [GRCh38]
Chr17:5436233 [GRCh37]
Chr17:17p13.2 |
benign |
| NM_033004.4(NLRP1):c.1163G>A (p.Gly388Glu) |
single nucleotide variant |
NLRP1-related condition [RCV003913014]|not provided [RCV000911209] |
Chr17:5559533 [GRCh38]
Chr17:5462853 [GRCh37]
Chr17:17p13.2 |
likely benign |
| NM_033004.4(NLRP1):c.1803C>T (p.Ile601=) |
single nucleotide variant |
not provided [RCV000911562] |
Chr17:5558893 [GRCh38]
Chr17:5462213 [GRCh37]
Chr17:17p13.2 |
benign|likely benign |
| NM_033004.4(NLRP1):c.429A>C (p.Thr143=) |
single nucleotide variant |
not provided [RCV001532297] |
Chr17:5582689 [GRCh38]
Chr17:5486009 [GRCh37]
Chr17:17p13.2 |
likely benign |
| NM_033004.4(NLRP1):c.2036G>A (p.Ser679Asn) |
single nucleotide variant |
not provided [RCV001200110] |
Chr17:5558660 [GRCh38]
Chr17:5461980 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.2264C>A (p.Thr755Asn) |
single nucleotide variant |
Respiratory papillomatosis, juvenile recurrent, congenital [RCV001027400] |
Chr17:5558432 [GRCh38]
Chr17:5461752 [GRCh37]
Chr17:17p13.2 |
pathogenic |
| NM_033004.4(NLRP1):c.2170G>A (p.Glu724Lys) |
single nucleotide variant |
Autoinflammation with arthritis and dyskeratosis [RCV001197219] |
Chr17:5558526 [GRCh38]
Chr17:5461846 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.1580G>A (p.Cys527Tyr) |
single nucleotide variant |
Autoinflammation with arthritis and dyskeratosis [RCV001333384]|not provided [RCV001871848] |
Chr17:5559116 [GRCh38]
Chr17:5462436 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| GRCh37/hg19 17p13.2(chr17:5143295-5850209)x3 |
copy number gain |
not provided [RCV001259319] |
Chr17:5143295..5850209 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.3128T>C (p.Ile1043Thr) |
single nucleotide variant |
not provided [RCV001324791] |
Chr17:5533309 [GRCh38]
Chr17:5436629 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.1652G>C (p.Cys551Ser) |
single nucleotide variant |
not provided [RCV001320432] |
Chr17:5559044 [GRCh38]
Chr17:5462364 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.4111T>A (p.Ser1371Thr) |
single nucleotide variant |
not provided [RCV001300986] |
Chr17:5515065 [GRCh38]
Chr17:5418385 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.4057+1G>A |
single nucleotide variant |
not provided [RCV001325124] |
Chr17:5517745 [GRCh38]
Chr17:5421065 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.3577C>A (p.Leu1193Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV002547592]|not provided [RCV001354705] |
Chr17:5521730 [GRCh38]
Chr17:5425050 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.3496C>T (p.Leu1166Phe) |
single nucleotide variant |
not provided [RCV001373124] |
Chr17:5530505 [GRCh38]
Chr17:5433825 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.854A>G (p.Gln285Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV003284215]|not provided [RCV001337581] |
Chr17:5559842 [GRCh38]
Chr17:5463162 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.375G>A (p.Pro125=) |
single nucleotide variant |
NLRP1-related condition [RCV003946023]|not provided [RCV001360425] |
Chr17:5582743 [GRCh38]
Chr17:5486063 [GRCh37]
Chr17:17p13.2 |
likely benign|uncertain significance |
| NM_033004.4(NLRP1):c.868A>G (p.Arg290Gly) |
single nucleotide variant |
not provided [RCV001371589] |
Chr17:5559828 [GRCh38]
Chr17:5463148 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.1975G>A (p.Ala659Thr) |
single nucleotide variant |
not provided [RCV001345941] |
Chr17:5558721 [GRCh38]
Chr17:5462041 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.1078C>T (p.Arg360Cys) |
single nucleotide variant |
not provided [RCV001308809] |
Chr17:5559618 [GRCh38]
Chr17:5462938 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.3052+3A>G |
single nucleotide variant |
not provided [RCV001300849] |
Chr17:5533894 [GRCh38]
Chr17:5437214 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.374C>T (p.Pro125Leu) |
single nucleotide variant |
not provided [RCV001321044] |
Chr17:5582744 [GRCh38]
Chr17:5486064 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.2863C>T (p.Arg955Cys) |
single nucleotide variant |
not provided [RCV001345468] |
Chr17:5539422 [GRCh38]
Chr17:5442742 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.439C>T (p.Arg147Cys) |
single nucleotide variant |
Vitiligo-associated multiple autoimmune disease susceptibility 1 [RCV002493649]|not provided [RCV001315758] |
Chr17:5582679 [GRCh38]
Chr17:5485999 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.3159G>A (p.Pro1053=) |
single nucleotide variant |
not provided [RCV001474934] |
Chr17:5532959 [GRCh38]
Chr17:5436279 [GRCh37]
Chr17:17p13.2 |
likely benign |
| NM_033004.4(NLRP1):c.2009C>T (p.Thr670Ile) |
single nucleotide variant |
NLRP1-related condition [RCV003973311]|not provided [RCV001450686] |
Chr17:5558687 [GRCh38]
Chr17:5462007 [GRCh37]
Chr17:17p13.2 |
likely benign|conflicting interpretations of pathogenicity |
| NM_033004.4(NLRP1):c.1690T>C (p.Leu564=) |
single nucleotide variant |
not provided [RCV001506149] |
Chr17:5559006 [GRCh38]
Chr17:5462326 [GRCh37]
Chr17:17p13.2 |
likely benign |
| NM_033004.4(NLRP1):c.2815G>A (p.Val939Met) |
single nucleotide variant |
not provided [RCV001510769] |
Chr17:5539470 [GRCh38]
Chr17:5442790 [GRCh37]
Chr17:17p13.2 |
benign |
| NM_033004.4(NLRP1):c.2934A>G (p.Lys978=) |
single nucleotide variant |
not provided [RCV001512489] |
Chr17:5536877 [GRCh38]
Chr17:5440197 [GRCh37]
Chr17:17p13.2 |
benign |
| NM_033004.4(NLRP1):c.2910A>G (p.Glu970=) |
single nucleotide variant |
not provided [RCV001512490] |
Chr17:5536901 [GRCh38]
Chr17:5440221 [GRCh37]
Chr17:17p13.2 |
benign |
| NM_033004.4(NLRP1):c.2883A>G (p.Thr961=) |
single nucleotide variant |
not provided [RCV001512491] |
Chr17:5536928 [GRCh38]
Chr17:5440248 [GRCh37]
Chr17:17p13.2 |
benign |
| NM_033004.4(NLRP1):c.737C>G (p.Thr246Ser) |
single nucleotide variant |
not provided [RCV001512494] |
Chr17:5559959 [GRCh38]
Chr17:5463279 [GRCh37]
Chr17:17p13.2 |
benign |
| NM_033004.4(NLRP1):c.736A>G (p.Thr246Ala) |
single nucleotide variant |
not provided [RCV001487549] |
Chr17:5559960 [GRCh38]
Chr17:5463280 [GRCh37]
Chr17:17p13.2 |
likely benign |
| NM_033004.4(NLRP1):c.2056A>G (p.Met686Val) |
single nucleotide variant |
NLRP1-related condition [RCV003973304]|not provided [RCV001447009] |
Chr17:5558640 [GRCh38]
Chr17:5461960 [GRCh37]
Chr17:17p13.2 |
likely benign|conflicting interpretations of pathogenicity |
| NM_033004.4(NLRP1):c.4058-18A>T |
single nucleotide variant |
not provided [RCV001410745] |
Chr17:5515535 [GRCh38]
Chr17:5418855 [GRCh37]
Chr17:17p13.2 |
likely benign |
| NM_033004.4(NLRP1):c.3550_3551delinsGC (p.Met1184Ala) |
indel |
not provided [RCV001514757]|not specified [RCV003399282] |
Chr17:5521756..5521757 [GRCh38]
Chr17:5425076..5425077 [GRCh37]
Chr17:17p13.2 |
benign |
| NM_033004.4(NLRP1):c.3175G>A (p.Val1059Met) |
single nucleotide variant |
not provided [RCV001510768]|not specified [RCV003394085] |
Chr17:5532943 [GRCh38]
Chr17:5436263 [GRCh37]
Chr17:17p13.2 |
benign |
| NM_033004.4(NLRP1):c.2633C>T (p.Thr878Met) |
single nucleotide variant |
not provided [RCV001512492] |
Chr17:5541923 [GRCh38]
Chr17:5445243 [GRCh37]
Chr17:17p13.2 |
benign |
| NM_033004.4(NLRP1):c.2345C>G (p.Thr782Ser) |
single nucleotide variant |
not provided [RCV001512626] |
Chr17:5558351 [GRCh38]
Chr17:5461671 [GRCh37]
Chr17:17p13.2 |
benign |
| NM_033004.4(NLRP1):c.2562C>T (p.Cys854=) |
single nucleotide variant |
not provided [RCV001512493] |
Chr17:5541994 [GRCh38]
Chr17:5445314 [GRCh37]
Chr17:17p13.2 |
benign |
| NM_033004.4(NLRP1):c.4389C>T (p.Gly1463=) |
single nucleotide variant |
not provided [RCV001513312] |
Chr17:5514787 [GRCh38]
Chr17:5418107 [GRCh37]
Chr17:17p13.2 |
benign |
| NM_033004.4(NLRP1):c.3741C>T (p.Thr1247=) |
single nucleotide variant |
not provided [RCV001513313] |
Chr17:5521566 [GRCh38]
Chr17:5424886 [GRCh37]
Chr17:17p13.2 |
benign |
| NM_033004.4(NLRP1):c.4096C>T (p.Arg1366Cys) |
single nucleotide variant |
not provided [RCV001523011] |
Chr17:5515479 [GRCh38]
Chr17:5418799 [GRCh37]
Chr17:17p13.2 |
benign |
| NM_033004.4(NLRP1):c.3721G>C (p.Val1241Leu) |
single nucleotide variant |
not provided [RCV001523012] |
Chr17:5521586 [GRCh38]
Chr17:5424906 [GRCh37]
Chr17:17p13.2 |
benign |
| NM_033004.4(NLRP1):c.3636C>T (p.Phe1212=) |
single nucleotide variant |
not provided [RCV001523013] |
Chr17:5521671 [GRCh38]
Chr17:5424991 [GRCh37]
Chr17:17p13.2 |
benign |
| NM_033004.4(NLRP1):c.3480T>C (p.Ala1160=) |
single nucleotide variant |
not provided [RCV001523014] |
Chr17:5530521 [GRCh38]
Chr17:5433841 [GRCh37]
Chr17:17p13.2 |
benign |
| NM_033004.4(NLRP1):c.3355A>G (p.Met1119Val) |
single nucleotide variant |
not provided [RCV001523015] |
Chr17:5530646 [GRCh38]
Chr17:5433966 [GRCh37]
Chr17:17p13.2 |
benign |
| NM_033004.4(NLRP1):c.2984C>T (p.Thr995Ile) |
single nucleotide variant |
not provided [RCV001523016] |
Chr17:5533965 [GRCh38]
Chr17:5437285 [GRCh37]
Chr17:17p13.2 |
benign |
| NM_033004.4(NLRP1):c.822T>G (p.Phe274Leu) |
single nucleotide variant |
not provided [RCV001451138] |
Chr17:5559874 [GRCh38]
Chr17:5463194 [GRCh37]
Chr17:17p13.2 |
likely benign |
| NM_033004.4(NLRP1):c.2169C>T (p.Tyr723=) |
single nucleotide variant |
not provided [RCV001516482] |
Chr17:5558527 [GRCh38]
Chr17:5461847 [GRCh37]
Chr17:17p13.2 |
benign |
| NM_033004.4(NLRP1):c.2121G>T (p.Leu707=) |
single nucleotide variant |
not provided [RCV001516483] |
Chr17:5558575 [GRCh38]
Chr17:5461895 [GRCh37]
Chr17:17p13.2 |
benign |
| NM_033004.4(NLRP1):c.1881A>G (p.Gln627=) |
single nucleotide variant |
not provided [RCV001516484] |
Chr17:5558815 [GRCh38]
Chr17:5462135 [GRCh37]
Chr17:17p13.2 |
benign |
| NM_033004.4(NLRP1):c.1362C>T (p.Phe454=) |
single nucleotide variant |
not provided [RCV001516485] |
Chr17:5559334 [GRCh38]
Chr17:5462654 [GRCh37]
Chr17:17p13.2 |
benign |
| NM_033004.4(NLRP1):c.2700-19G>A |
single nucleotide variant |
not provided [RCV001523045] |
Chr17:5539604 [GRCh38]
Chr17:5442924 [GRCh37]
Chr17:17p13.2 |
benign |
| NM_033004.4(NLRP1):c.448+16G>T |
single nucleotide variant |
not provided [RCV001516529] |
Chr17:5582654 [GRCh38]
Chr17:5485974 [GRCh37]
Chr17:17p13.2 |
benign |
| NM_033004.4(NLRP1):c.2699+20del |
deletion |
not provided [RCV001518981] |
Chr17:5541837 [GRCh38]
Chr17:5445157 [GRCh37]
Chr17:17p13.2 |
benign |
| NM_033004.4(NLRP1):c.3721G>A (p.Val1241Ile) |
single nucleotide variant |
not provided [RCV001406434] |
Chr17:5521586 [GRCh38]
Chr17:5424906 [GRCh37]
Chr17:17p13.2 |
likely benign|conflicting interpretations of pathogenicity |
| NM_033004.4(NLRP1):c.4407G>C (p.Leu1469=) |
single nucleotide variant |
not provided [RCV001432118] |
Chr17:5514769 [GRCh38]
Chr17:5418089 [GRCh37]
Chr17:17p13.2 |
likely benign |
| NM_033004.4(NLRP1):c.2507G>A (p.Arg836His) |
single nucleotide variant |
NLRP1-related condition [RCV003931045]|not provided [RCV001510647] |
Chr17:5553407 [GRCh38]
Chr17:5456727 [GRCh37]
Chr17:17p13.2 |
benign|likely benign |
| NM_033004.4(NLRP1):c.1776G>A (p.Arg592=) |
single nucleotide variant |
NLRP1-related condition [RCV003966063]|not provided [RCV001510770] |
Chr17:5558920 [GRCh38]
Chr17:5462240 [GRCh37]
Chr17:17p13.2 |
benign |
| NM_033004.4(NLRP1):c.3741C>A (p.Thr1247=) |
single nucleotide variant |
NLRP1-related condition [RCV003921130]|not provided [RCV001517064] |
Chr17:5521566 [GRCh38]
Chr17:5424886 [GRCh37]
Chr17:17p13.2 |
benign |
| NM_033004.4(NLRP1):c.2357+12A>T |
single nucleotide variant |
not provided [RCV001519167] |
Chr17:5558327 [GRCh38]
Chr17:5461647 [GRCh37]
Chr17:17p13.2 |
benign |
| NM_033004.4(NLRP1):c.2871-20G>A |
single nucleotide variant |
not provided [RCV001423253] |
Chr17:5536960 [GRCh38]
Chr17:5440280 [GRCh37]
Chr17:17p13.2 |
likely benign |
| NM_033004.4(NLRP1):c.3916-9C>T |
single nucleotide variant |
not provided [RCV001499048] |
Chr17:5517896 [GRCh38]
Chr17:5421216 [GRCh37]
Chr17:17p13.2 |
likely benign |
| NM_033004.4(NLRP1):c.3228C>T (p.Asp1076=) |
single nucleotide variant |
Vitiligo-associated multiple autoimmune disease susceptibility 1 [RCV002476744]|not provided [RCV001418567] |
Chr17:5532890 [GRCh38]
Chr17:5436210 [GRCh37]
Chr17:17p13.2 |
likely benign |
| NM_033004.4(NLRP1):c.2082G>T (p.Leu694=) |
single nucleotide variant |
not provided [RCV001416056] |
Chr17:5558614 [GRCh38]
Chr17:5461934 [GRCh37]
Chr17:17p13.2 |
likely benign |
| NM_033004.4(NLRP1):c.2142C>G (p.His714Gln) |
single nucleotide variant |
not provided [RCV001424363] |
Chr17:5558554 [GRCh38]
Chr17:5461874 [GRCh37]
Chr17:17p13.2 |
likely benign|conflicting interpretations of pathogenicity |
| NM_033004.4(NLRP1):c.632C>T (p.Thr211Met) |
single nucleotide variant |
Inborn genetic diseases [RCV003264093]|not provided [RCV001755288] |
Chr17:5581879 [GRCh38]
Chr17:5485199 [GRCh37]
Chr17:17p13.2 |
likely benign|uncertain significance |
| NM_033004.4(NLRP1):c.1004C>T (p.Ala335Val) |
single nucleotide variant |
Inborn genetic diseases [RCV003163911]|not provided [RCV001776362] |
Chr17:5559692 [GRCh38]
Chr17:5463012 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.568C>T (p.Pro190Ser) |
single nucleotide variant |
not provided [RCV001776502] |
Chr17:5581943 [GRCh38]
Chr17:5485263 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.2842C>T (p.His948Tyr) |
single nucleotide variant |
not provided [RCV001768206] |
Chr17:5539443 [GRCh38]
Chr17:5442763 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.2290G>A (p.Val764Met) |
single nucleotide variant |
NLRP1-related condition [RCV003394246]|not provided [RCV001753194] |
Chr17:5558406 [GRCh38]
Chr17:5461726 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.1733G>T (p.Gly578Val) |
single nucleotide variant |
not specified [RCV001733524] |
Chr17:5558963 [GRCh38]
Chr17:5462283 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.3248C>T (p.Thr1083Met) |
single nucleotide variant |
not provided [RCV002539834]|not specified [RCV001733525] |
Chr17:5532870 [GRCh38]
Chr17:5436190 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.2468C>T (p.Ser823Phe) |
single nucleotide variant |
not provided [RCV001964283] |
Chr17:5553446 [GRCh38]
Chr17:5456766 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.3325C>T (p.Arg1109Cys) |
single nucleotide variant |
not provided [RCV002009190] |
Chr17:5530676 [GRCh38]
Chr17:5433996 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.3866G>A (p.Arg1289His) |
single nucleotide variant |
not provided [RCV002009386] |
Chr17:5520930 [GRCh38]
Chr17:5424250 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.2043G>T (p.Glu681Asp) |
single nucleotide variant |
Corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome [RCV003483878]|not provided [RCV002045108] |
Chr17:5558653 [GRCh38]
Chr17:5461973 [GRCh37]
Chr17:17p13.2 |
uncertain significance|not provided |
| NM_033004.4(NLRP1):c.3296G>A (p.Arg1099Gln) |
single nucleotide variant |
not provided [RCV001864133] |
Chr17:5532822 [GRCh38]
Chr17:5436142 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.2059G>A (p.Glu687Lys) |
single nucleotide variant |
not provided [RCV001929923] |
Chr17:5558637 [GRCh38]
Chr17:5461957 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.558G>A (p.Trp186Ter) |
single nucleotide variant |
not provided [RCV002006405] |
Chr17:5581953 [GRCh38]
Chr17:5485273 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.4268C>T (p.Pro1423Leu) |
single nucleotide variant |
not provided [RCV001863991] |
Chr17:5514908 [GRCh38]
Chr17:5418228 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.2743G>A (p.Ala915Thr) |
single nucleotide variant |
not provided [RCV001896788] |
Chr17:5539542 [GRCh38]
Chr17:5442862 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.2870+1G>A |
single nucleotide variant |
not provided [RCV002045691] |
Chr17:5539414 [GRCh38]
Chr17:5442734 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.2015G>A (p.Arg672His) |
single nucleotide variant |
not provided [RCV002009359] |
Chr17:5558681 [GRCh38]
Chr17:5462001 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.982C>T (p.Arg328Cys) |
single nucleotide variant |
Inborn genetic diseases [RCV002545452]|NLRP1-related condition [RCV003408073]|not provided [RCV002004146] |
Chr17:5559714 [GRCh38]
Chr17:5463034 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.89A>G (p.Asn30Ser) |
single nucleotide variant |
not provided [RCV001946321] |
Chr17:5583869 [GRCh38]
Chr17:5487189 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.923G>T (p.Arg308Leu) |
single nucleotide variant |
not provided [RCV001896269] |
Chr17:5559773 [GRCh38]
Chr17:5463093 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.2500C>T (p.Arg834Cys) |
single nucleotide variant |
not provided [RCV002001675] |
Chr17:5553414 [GRCh38]
Chr17:5456734 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.1040T>G (p.Val347Gly) |
single nucleotide variant |
Autoinflammation with arthritis and dyskeratosis [RCV003322627]|Vitiligo-associated multiple autoimmune disease susceptibility 1 [RCV002484724]|not provided [RCV001969967] |
Chr17:5559656 [GRCh38]
Chr17:5462976 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.3401A>C (p.Gln1134Pro) |
single nucleotide variant |
not provided [RCV001895816] |
Chr17:5530600 [GRCh38]
Chr17:5433920 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.356C>T (p.Pro119Leu) |
single nucleotide variant |
not provided [RCV001986192] |
Chr17:5582762 [GRCh38]
Chr17:5486082 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.3881G>A (p.Gly1294Glu) |
single nucleotide variant |
not provided [RCV002025061] |
Chr17:5520915 [GRCh38]
Chr17:5424235 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.4326T>A (p.Asp1442Glu) |
single nucleotide variant |
not provided [RCV001966833] |
Chr17:5514850 [GRCh38]
Chr17:5418170 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.4028C>T (p.Thr1343Ile) |
single nucleotide variant |
not provided [RCV002042194] |
Chr17:5517775 [GRCh38]
Chr17:5421095 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.2918C>T (p.Ala973Val) |
single nucleotide variant |
not provided [RCV001987504] |
Chr17:5536893 [GRCh38]
Chr17:5440213 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.2078G>A (p.Arg693Gln) |
single nucleotide variant |
not provided [RCV001948521] |
Chr17:5558618 [GRCh38]
Chr17:5461938 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.4371G>C (p.Met1457Ile) |
single nucleotide variant |
not provided [RCV001863675] |
Chr17:5514805 [GRCh38]
Chr17:5418125 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.1158A>T (p.Lys386Asn) |
single nucleotide variant |
not provided [RCV002039805] |
Chr17:5559538 [GRCh38]
Chr17:5462858 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.3508G>C (p.Val1170Leu) |
single nucleotide variant |
not provided [RCV001908577] |
Chr17:5530493 [GRCh38]
Chr17:5433813 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.3922G>C (p.Glu1308Gln) |
single nucleotide variant |
Inborn genetic diseases [RCV003250386]|not provided [RCV001986066] |
Chr17:5517881 [GRCh38]
Chr17:5421201 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.3158C>T (p.Pro1053Leu) |
single nucleotide variant |
not provided [RCV002042874] |
Chr17:5532960 [GRCh38]
Chr17:5436280 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.397G>C (p.Glu133Gln) |
single nucleotide variant |
not provided [RCV001893977] |
Chr17:5582721 [GRCh38]
Chr17:5486041 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.16T>A (p.Trp6Arg) |
single nucleotide variant |
not provided [RCV001968831] |
Chr17:5583942 [GRCh38]
Chr17:5487262 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.1967C>T (p.Thr656Met) |
single nucleotide variant |
NLRP1-related condition [RCV003402060]|not provided [RCV002023378] |
Chr17:5558729 [GRCh38]
Chr17:5462049 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.2815G>T (p.Val939Leu) |
single nucleotide variant |
not provided [RCV002021530] |
Chr17:5539470 [GRCh38]
Chr17:5442790 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.773C>G (p.Ser258Cys) |
single nucleotide variant |
Inborn genetic diseases [RCV002561539]|not provided [RCV002001992] |
Chr17:5559923 [GRCh38]
Chr17:5463243 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.124C>T (p.Pro42Ser) |
single nucleotide variant |
not provided [RCV002042387] |
Chr17:5583834 [GRCh38]
Chr17:5487154 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.4172C>G (p.Ala1391Gly) |
single nucleotide variant |
not provided [RCV001909567] |
Chr17:5515004 [GRCh38]
Chr17:5418324 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.1998T>G (p.Phe666Leu) |
single nucleotide variant |
not provided [RCV001964413] |
Chr17:5558698 [GRCh38]
Chr17:5462018 [GRCh37]
Chr17:17p13.2 |
likely benign|uncertain significance |
| NM_033004.4(NLRP1):c.3152T>C (p.Val1051Ala) |
single nucleotide variant |
not provided [RCV001964801] |
Chr17:5532966 [GRCh38]
Chr17:5436286 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.194G>A (p.Arg65Gln) |
single nucleotide variant |
not provided [RCV002005170] |
Chr17:5583764 [GRCh38]
Chr17:5487084 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.1718C>G (p.Ser573Cys) |
single nucleotide variant |
Inborn genetic diseases [RCV002555695]|NLRP1-related condition [RCV003958410]|not provided [RCV001909298] |
Chr17:5558978 [GRCh38]
Chr17:5462298 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| GRCh37/hg19 17p13.2(chr17:5449811-5725241) |
copy number gain |
not specified [RCV002052583] |
Chr17:5449811..5725241 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.3679C>T (p.Arg1227Cys) |
single nucleotide variant |
not provided [RCV001965553] |
Chr17:5521628 [GRCh38]
Chr17:5424948 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.1748del (p.Lys583fs) |
deletion |
not provided [RCV001928422] |
Chr17:5558948 [GRCh38]
Chr17:5462268 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.2309T>C (p.Ile770Thr) |
single nucleotide variant |
not provided [RCV001893865] |
Chr17:5558387 [GRCh38]
Chr17:5461707 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.3275A>T (p.Asp1092Val) |
single nucleotide variant |
not provided [RCV001947756] |
Chr17:5532843 [GRCh38]
Chr17:5436163 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.250G>A (p.Ala84Thr) |
single nucleotide variant |
not provided [RCV001913943] |
Chr17:5583708 [GRCh38]
Chr17:5487028 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.118G>A (p.Glu40Lys) |
single nucleotide variant |
not provided [RCV002043100] |
Chr17:5583840 [GRCh38]
Chr17:5487160 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.372G>C (p.Leu124Phe) |
single nucleotide variant |
not provided [RCV001927875] |
Chr17:5582746 [GRCh38]
Chr17:5486066 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.2720C>T (p.Thr907Met) |
single nucleotide variant |
Inborn genetic diseases [RCV003264196]|not provided [RCV001893317] |
Chr17:5539565 [GRCh38]
Chr17:5442885 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.994del (p.Leu332fs) |
deletion |
not provided [RCV001910991] |
Chr17:5559702 [GRCh38]
Chr17:5463022 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.1282C>G (p.Leu428Val) |
single nucleotide variant |
not provided [RCV001967244] |
Chr17:5559414 [GRCh38]
Chr17:5462734 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.4184C>T (p.Ser1395Leu) |
single nucleotide variant |
not provided [RCV001872158] |
Chr17:5514992 [GRCh38]
Chr17:5418312 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.3346T>C (p.Cys1116Arg) |
single nucleotide variant |
not provided [RCV001969615] |
Chr17:5530655 [GRCh38]
Chr17:5433975 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.4172C>A (p.Ala1391Asp) |
single nucleotide variant |
not provided [RCV001892940] |
Chr17:5515004 [GRCh38]
Chr17:5418324 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.289C>G (p.Pro97Ala) |
single nucleotide variant |
not provided [RCV001914114] |
Chr17:5582829 [GRCh38]
Chr17:5486149 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.172G>A (p.Val58Met) |
single nucleotide variant |
Inborn genetic diseases [RCV003264351]|not provided [RCV002002582] |
Chr17:5583786 [GRCh38]
Chr17:5487106 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.3598G>A (p.Val1200Met) |
single nucleotide variant |
not provided [RCV001984050] |
Chr17:5521709 [GRCh38]
Chr17:5425029 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.4097G>A (p.Arg1366His) |
single nucleotide variant |
Inborn genetic diseases [RCV002551056]|not provided [RCV001894860] |
Chr17:5515478 [GRCh38]
Chr17:5418798 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.2810T>C (p.Val937Ala) |
single nucleotide variant |
Inborn genetic diseases [RCV003167387]|not provided [RCV001987107] |
Chr17:5539475 [GRCh38]
Chr17:5442795 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.791G>A (p.Cys264Tyr) |
single nucleotide variant |
not provided [RCV002044120] |
Chr17:5559905 [GRCh38]
Chr17:5463225 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.1825A>G (p.Ile609Val) |
single nucleotide variant |
not provided [RCV001967100] |
Chr17:5558871 [GRCh38]
Chr17:5462191 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.3892G>A (p.Gly1298Arg) |
single nucleotide variant |
not provided [RCV001913538] |
Chr17:5520904 [GRCh38]
Chr17:5424224 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.3930C>A (p.Cys1310Ter) |
single nucleotide variant |
not provided [RCV001970384] |
Chr17:5517873 [GRCh38]
Chr17:5421193 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.2051G>A (p.Arg684Lys) |
single nucleotide variant |
not provided [RCV001891913] |
Chr17:5558645 [GRCh38]
Chr17:5461965 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.1889T>C (p.Phe630Ser) |
single nucleotide variant |
not provided [RCV001983855] |
Chr17:5558807 [GRCh38]
Chr17:5462127 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.320C>T (p.Ser107Phe) |
single nucleotide variant |
not provided [RCV001946536] |
Chr17:5582798 [GRCh38]
Chr17:5486118 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.4260C>A (p.Asn1420Lys) |
single nucleotide variant |
not provided [RCV002042731] |
Chr17:5514916 [GRCh38]
Chr17:5418236 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.1529A>G (p.Asn510Ser) |
single nucleotide variant |
not provided [RCV001890854] |
Chr17:5559167 [GRCh38]
Chr17:5462487 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.510C>G (p.Ser170Arg) |
single nucleotide variant |
not provided [RCV002005877] |
Chr17:5582001 [GRCh38]
Chr17:5485321 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.3869A>G (p.Tyr1290Cys) |
single nucleotide variant |
not provided [RCV001985818] |
Chr17:5520927 [GRCh38]
Chr17:5424247 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.994C>G (p.Leu332Val) |
single nucleotide variant |
not provided [RCV001913515] |
Chr17:5559702 [GRCh38]
Chr17:5463022 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.346G>A (p.Val116Met) |
single nucleotide variant |
not provided [RCV002042156] |
Chr17:5582772 [GRCh38]
Chr17:5486092 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.3934C>T (p.Arg1312Ter) |
single nucleotide variant |
not provided [RCV001911444] |
Chr17:5517869 [GRCh38]
Chr17:5421189 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.2629C>T (p.Leu877Phe) |
single nucleotide variant |
not provided [RCV002040635] |
Chr17:5541927 [GRCh38]
Chr17:5445247 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.143C>T (p.Thr48Met) |
single nucleotide variant |
not provided [RCV002039466] |
Chr17:5583815 [GRCh38]
Chr17:5487135 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.1055G>A (p.Gly352Glu) |
single nucleotide variant |
not provided [RCV001942645] |
Chr17:5559641 [GRCh38]
Chr17:5462961 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.1582A>G (p.Thr528Ala) |
single nucleotide variant |
not provided [RCV001934939] |
Chr17:5559114 [GRCh38]
Chr17:5462434 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.5C>T (p.Ala2Val) |
single nucleotide variant |
not provided [RCV001999359] |
Chr17:5583953 [GRCh38]
Chr17:5487273 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.3719G>A (p.Arg1240His) |
single nucleotide variant |
not provided [RCV002038137] |
Chr17:5521588 [GRCh38]
Chr17:5424908 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.1234G>A (p.Val412Ile) |
single nucleotide variant |
not provided [RCV001877638] |
Chr17:5559462 [GRCh38]
Chr17:5462782 [GRCh37]
Chr17:17p13.2 |
likely benign |
| NM_033004.4(NLRP1):c.3338C>T (p.Thr1113Met) |
single nucleotide variant |
Vitiligo-associated multiple autoimmune disease susceptibility 1 [RCV002492045]|not provided [RCV001939223] |
Chr17:5530663 [GRCh38]
Chr17:5433983 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.164C>T (p.Ser55Leu) |
single nucleotide variant |
Vitiligo-associated multiple autoimmune disease susceptibility 1 [RCV002506915]|not provided [RCV001944839] |
Chr17:5583794 [GRCh38]
Chr17:5487114 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.1994T>C (p.Leu665Pro) |
single nucleotide variant |
not provided [RCV001899388] |
Chr17:5558702 [GRCh38]
Chr17:5462022 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.1175C>G (p.Pro392Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV002555266]|not provided [RCV001922567] |
Chr17:5559521 [GRCh38]
Chr17:5462841 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.3339G>A (p.Thr1113=) |
single nucleotide variant |
not provided [RCV002038526] |
Chr17:5530662 [GRCh38]
Chr17:5433982 [GRCh37]
Chr17:17p13.2 |
likely benign|uncertain significance |
| NM_033004.4(NLRP1):c.2177G>A (p.Arg726Gln) |
single nucleotide variant |
not provided [RCV002010780] |
Chr17:5558519 [GRCh38]
Chr17:5461839 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.211C>T (p.Leu71Phe) |
single nucleotide variant |
not provided [RCV002028615] |
Chr17:5583747 [GRCh38]
Chr17:5487067 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.2597C>G (p.Thr866Ser) |
single nucleotide variant |
not provided [RCV001887419] |
Chr17:5541959 [GRCh38]
Chr17:5445279 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.3817G>C (p.Val1273Leu) |
single nucleotide variant |
not provided [RCV002036972] |
Chr17:5520979 [GRCh38]
Chr17:5424299 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.4191G>C (p.Glu1397Asp) |
single nucleotide variant |
not provided [RCV001887840] |
Chr17:5514985 [GRCh38]
Chr17:5418305 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.943A>G (p.Arg315Gly) |
single nucleotide variant |
not provided [RCV002001374] |
Chr17:5559753 [GRCh38]
Chr17:5463073 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.2961-5T>C |
single nucleotide variant |
not provided [RCV001869882] |
Chr17:5533993 [GRCh38]
Chr17:5437313 [GRCh37]
Chr17:17p13.2 |
likely benign|uncertain significance |
| NM_033004.4(NLRP1):c.2478G>C (p.Lys826Asn) |
single nucleotide variant |
not provided [RCV002037348] |
Chr17:5553436 [GRCh38]
Chr17:5456756 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.1442T>A (p.Phe481Tyr) |
single nucleotide variant |
not provided [RCV001925415] |
Chr17:5559254 [GRCh38]
Chr17:5462574 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.95C>T (p.Ala32Val) |
single nucleotide variant |
not provided [RCV002037240] |
Chr17:5583863 [GRCh38]
Chr17:5487183 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.1351G>A (p.Glu451Lys) |
single nucleotide variant |
not provided [RCV001990465] |
Chr17:5559345 [GRCh38]
Chr17:5462665 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.3554C>A (p.Ala1185Asp) |
single nucleotide variant |
not provided [RCV001866776] |
Chr17:5521753 [GRCh38]
Chr17:5425073 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.2528+1G>C |
single nucleotide variant |
not provided [RCV002000640] |
Chr17:5553385 [GRCh38]
Chr17:5456705 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.3231_3233del (p.Asp1078del) |
deletion |
not provided [RCV001885646] |
Chr17:5532885..5532887 [GRCh38]
Chr17:5436205..5436207 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.1819A>G (p.Met607Val) |
single nucleotide variant |
not provided [RCV002019506] |
Chr17:5558877 [GRCh38]
Chr17:5462197 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.3035G>A (p.Arg1012Gln) |
single nucleotide variant |
not provided [RCV001993421] |
Chr17:5533914 [GRCh38]
Chr17:5437234 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.1832A>G (p.Gln611Arg) |
single nucleotide variant |
not provided [RCV002037523] |
Chr17:5558864 [GRCh38]
Chr17:5462184 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.4186G>A (p.Val1396Met) |
single nucleotide variant |
Inborn genetic diseases [RCV002557655]|not provided [RCV001918959] |
Chr17:5514990 [GRCh38]
Chr17:5418310 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.4208T>C (p.Leu1403Pro) |
single nucleotide variant |
not provided [RCV001973874] |
Chr17:5514968 [GRCh38]
Chr17:5418288 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.3002G>C (p.Gly1001Ala) |
single nucleotide variant |
not provided [RCV001955454] |
Chr17:5533947 [GRCh38]
Chr17:5437267 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.2960+5G>C |
single nucleotide variant |
not provided [RCV002026832] |
Chr17:5536846 [GRCh38]
Chr17:5440166 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.1268G>T (p.Ser423Ile) |
single nucleotide variant |
not provided [RCV001991041] |
Chr17:5559428 [GRCh38]
Chr17:5462748 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.2215_2217inv (p.Glu739Phe) |
inversion |
not provided [RCV002016204] |
Chr17:5558479..5558481 [GRCh38]
Chr17:5461799..5461801 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.3140G>T (p.Ser1047Ile) |
single nucleotide variant |
not provided [RCV001951808] |
Chr17:5532978 [GRCh38]
Chr17:5436298 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.2215G>A (p.Glu739Lys) |
single nucleotide variant |
not provided [RCV001992271] |
Chr17:5558481 [GRCh38]
Chr17:5461801 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.766G>A (p.Glu256Lys) |
single nucleotide variant |
not provided [RCV001995686] |
Chr17:5559930 [GRCh38]
Chr17:5463250 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.1711C>T (p.Leu571Phe) |
single nucleotide variant |
not provided [RCV001904461] |
Chr17:5558985 [GRCh38]
Chr17:5462305 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.1946G>T (p.Cys649Phe) |
single nucleotide variant |
not provided [RCV002027183] |
Chr17:5558750 [GRCh38]
Chr17:5462070 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.2201T>G (p.Val734Gly) |
single nucleotide variant |
not provided [RCV001996240] |
Chr17:5558495 [GRCh38]
Chr17:5461815 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.4187T>C (p.Val1396Ala) |
single nucleotide variant |
not provided [RCV002010741] |
Chr17:5514989 [GRCh38]
Chr17:5418309 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.1456del (p.Arg486fs) |
deletion |
not provided [RCV001866305] |
Chr17:5559240 [GRCh38]
Chr17:5462560 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.909T>G (p.Tyr303Ter) |
single nucleotide variant |
not provided [RCV001935952] |
Chr17:5559787 [GRCh38]
Chr17:5463107 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.622C>A (p.Leu208Met) |
single nucleotide variant |
not provided [RCV002048529] |
Chr17:5581889 [GRCh38]
Chr17:5485209 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.724C>G (p.Pro242Ala) |
single nucleotide variant |
not provided [RCV002013702] |
Chr17:5559972 [GRCh38]
Chr17:5463292 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.2870+3A>G |
single nucleotide variant |
not provided [RCV002031707] |
Chr17:5539412 [GRCh38]
Chr17:5442732 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.3397G>A (p.Asp1133Asn) |
single nucleotide variant |
not provided [RCV001879627] |
Chr17:5530604 [GRCh38]
Chr17:5433924 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.3139A>G (p.Ser1047Gly) |
single nucleotide variant |
not provided [RCV001972274] |
Chr17:5532979 [GRCh38]
Chr17:5436299 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.124C>A (p.Pro42Thr) |
single nucleotide variant |
Inborn genetic diseases [RCV003170484]|not provided [RCV001991862] |
Chr17:5583834 [GRCh38]
Chr17:5487154 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.1025C>T (p.Thr342Ile) |
single nucleotide variant |
not provided [RCV001897535] |
Chr17:5559671 [GRCh38]
Chr17:5462991 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.824A>G (p.Asn275Ser) |
single nucleotide variant |
not provided [RCV001990798] |
Chr17:5559872 [GRCh38]
Chr17:5463192 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.3100G>A (p.Val1034Met) |
single nucleotide variant |
not provided [RCV002010203] |
Chr17:5533337 [GRCh38]
Chr17:5436657 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.389A>G (p.Gln130Arg) |
single nucleotide variant |
not provided [RCV001933377] |
Chr17:5582729 [GRCh38]
Chr17:5486049 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.3009G>A (p.Met1003Ile) |
single nucleotide variant |
not provided [RCV001877320] |
Chr17:5533940 [GRCh38]
Chr17:5437260 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.2284C>T (p.Arg762Cys) |
single nucleotide variant |
not provided [RCV001905703] |
Chr17:5558412 [GRCh38]
Chr17:5461732 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.3877T>C (p.Ser1293Pro) |
single nucleotide variant |
not provided [RCV001897764] |
Chr17:5520919 [GRCh38]
Chr17:5424239 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.1793G>A (p.Gly598Glu) |
single nucleotide variant |
not provided [RCV001881214] |
Chr17:5558903 [GRCh38]
Chr17:5462223 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.3788T>C (p.Ile1263Thr) |
single nucleotide variant |
Autoinflammation with arthritis and dyskeratosis [RCV002243483]|not provided [RCV001936010] |
Chr17:5521008 [GRCh38]
Chr17:5424328 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.2468C>A (p.Ser823Tyr) |
single nucleotide variant |
not provided [RCV001979449] |
Chr17:5553446 [GRCh38]
Chr17:5456766 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.1667C>A (p.Ala556Asp) |
single nucleotide variant |
not provided [RCV001953108] |
Chr17:5559029 [GRCh38]
Chr17:5462349 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.1376G>A (p.Arg459Gln) |
single nucleotide variant |
not provided [RCV001926253] |
Chr17:5559320 [GRCh38]
Chr17:5462640 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.2693G>A (p.Arg898Gln) |
single nucleotide variant |
not provided [RCV001936149] |
Chr17:5541863 [GRCh38]
Chr17:5445183 [GRCh37]
Chr17:17p13.2 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_033004.4(NLRP1):c.1421G>A (p.Arg474His) |
single nucleotide variant |
Inborn genetic diseases [RCV002550304]|not provided [RCV001937139] |
Chr17:5559275 [GRCh38]
Chr17:5462595 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.1478A>G (p.Tyr493Cys) |
single nucleotide variant |
not provided [RCV001884492] |
Chr17:5559218 [GRCh38]
Chr17:5462538 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.2959C>T (p.Arg987Trp) |
single nucleotide variant |
not provided [RCV001974219] |
Chr17:5536852 [GRCh38]
Chr17:5440172 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.526G>A (p.Ala176Thr) |
single nucleotide variant |
not provided [RCV001932634] |
Chr17:5581985 [GRCh38]
Chr17:5485305 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.2871-1G>T |
single nucleotide variant |
not provided [RCV002011856] |
Chr17:5536941 [GRCh38]
Chr17:5440261 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.2318G>A (p.Arg773Lys) |
single nucleotide variant |
not provided [RCV001976862] |
Chr17:5558378 [GRCh38]
Chr17:5461698 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.3780del (p.Lys1261fs) |
deletion |
not provided [RCV002017780] |
Chr17:5521527 [GRCh38]
Chr17:5424847 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.88A>G (p.Asn30Asp) |
single nucleotide variant |
not provided [RCV001960476] |
Chr17:5583870 [GRCh38]
Chr17:5487190 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.1541G>T (p.Trp514Leu) |
single nucleotide variant |
not provided [RCV001916898] |
Chr17:5559155 [GRCh38]
Chr17:5462475 [GRCh37]
Chr17:17p13.2 |
benign|uncertain significance |
| NM_033004.4(NLRP1):c.3980A>G (p.His1327Arg) |
single nucleotide variant |
not provided [RCV002017257] |
Chr17:5517823 [GRCh38]
Chr17:5421143 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.2138C>T (p.Pro713Leu) |
single nucleotide variant |
not provided [RCV001915595] |
Chr17:5558558 [GRCh38]
Chr17:5461878 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.145A>G (p.Ser49Gly) |
single nucleotide variant |
not provided [RCV001875220] |
Chr17:5583813 [GRCh38]
Chr17:5487133 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.2327G>A (p.Arg776Lys) |
single nucleotide variant |
not provided [RCV002033909] |
Chr17:5558369 [GRCh38]
Chr17:5461689 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.3484_3492dup (p.Glu1162_Val1164dup) |
duplication |
not provided [RCV001952419] |
Chr17:5530508..5530509 [GRCh38]
Chr17:5433828..5433829 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.707C>A (p.Ala236Glu) |
single nucleotide variant |
not provided [RCV002051297] |
Chr17:5559989 [GRCh38]
Chr17:5463309 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.2923G>A (p.Glu975Lys) |
single nucleotide variant |
not provided [RCV002017953] |
Chr17:5536888 [GRCh38]
Chr17:5440208 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.1930G>T (p.Gly644Cys) |
single nucleotide variant |
not provided [RCV001924208] |
Chr17:5558766 [GRCh38]
Chr17:5462086 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NC_000017.10:g.(?_5485159)_(5485402_?)dup |
duplication |
not provided [RCV001886045] |
Chr17:5485159..5485402 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.440G>A (p.Arg147His) |
single nucleotide variant |
Inborn genetic diseases [RCV002552963]|not provided [RCV001881824] |
Chr17:5582678 [GRCh38]
Chr17:5485998 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.1536G>C (p.Glu512Asp) |
single nucleotide variant |
Inborn genetic diseases [RCV002551186]|not provided [RCV002027771] |
Chr17:5559160 [GRCh38]
Chr17:5462480 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.4280G>A (p.Arg1427Gln) |
single nucleotide variant |
not provided [RCV001938257] |
Chr17:5514896 [GRCh38]
Chr17:5418216 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.2026G>A (p.Gly676Ser) |
single nucleotide variant |
not provided [RCV001979893] |
Chr17:5558670 [GRCh38]
Chr17:5461990 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.2463C>G (p.Ser821Arg) |
single nucleotide variant |
not provided [RCV002018107] |
Chr17:5553451 [GRCh38]
Chr17:5456771 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.430T>C (p.Ser144Pro) |
single nucleotide variant |
not provided [RCV001906251] |
Chr17:5582688 [GRCh38]
Chr17:5486008 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.3247A>G (p.Thr1083Ala) |
single nucleotide variant |
not provided [RCV001886176] |
Chr17:5532871 [GRCh38]
Chr17:5436191 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.4105G>A (p.Val1369Ile) |
single nucleotide variant |
not provided [RCV001936668] |
Chr17:5515071 [GRCh38]
Chr17:5418391 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.1375C>G (p.Arg459Gly) |
single nucleotide variant |
not provided [RCV002017507] |
Chr17:5559321 [GRCh38]
Chr17:5462641 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.2137C>T (p.Pro713Ser) |
single nucleotide variant |
not provided [RCV001866896] |
Chr17:5558559 [GRCh38]
Chr17:5461879 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.449-2A>G |
single nucleotide variant |
not provided [RCV002046807] |
Chr17:5582064 [GRCh38]
Chr17:5485384 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.673G>A (p.Glu225Lys) |
single nucleotide variant |
not provided [RCV001960351] |
Chr17:5560023 [GRCh38]
Chr17:5463343 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.1216C>T (p.Leu406Phe) |
single nucleotide variant |
not provided [RCV001884291] |
Chr17:5559480 [GRCh38]
Chr17:5462800 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.4175G>A (p.Arg1392Gln) |
single nucleotide variant |
not provided [RCV001937077] |
Chr17:5515001 [GRCh38]
Chr17:5418321 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.4087C>T (p.Pro1363Ser) |
single nucleotide variant |
not provided [RCV001961049] |
Chr17:5515488 [GRCh38]
Chr17:5418808 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.783G>C (p.Glu261Asp) |
single nucleotide variant |
not provided [RCV001961263] |
Chr17:5559913 [GRCh38]
Chr17:5463233 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.3554C>T (p.Ala1185Val) |
single nucleotide variant |
not provided [RCV001886199] |
Chr17:5521753 [GRCh38]
Chr17:5425073 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.168C>G (p.Tyr56Ter) |
single nucleotide variant |
not provided [RCV001876595] |
Chr17:5583790 [GRCh38]
Chr17:5487110 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.643T>G (p.Tyr215Asp) |
single nucleotide variant |
not provided [RCV001952186] |
Chr17:5581868 [GRCh38]
Chr17:5485188 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.3326G>A (p.Arg1109His) |
single nucleotide variant |
Inborn genetic diseases [RCV002554325]|not provided [RCV001917789] |
Chr17:5530675 [GRCh38]
Chr17:5433995 [GRCh37]
Chr17:17p13.2 |
likely benign|uncertain significance |
| NM_033004.4(NLRP1):c.946_947del (p.Asp316fs) |
microsatellite |
not provided [RCV002050705] |
Chr17:5559749..5559750 [GRCh38]
Chr17:5463069..5463070 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.1039G>C (p.Val347Leu) |
single nucleotide variant |
not provided [RCV002050814] |
Chr17:5559657 [GRCh38]
Chr17:5462977 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.2290G>C (p.Val764Leu) |
single nucleotide variant |
not provided [RCV001921605] |
Chr17:5558406 [GRCh38]
Chr17:5461726 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.2225G>A (p.Gly742Asp) |
single nucleotide variant |
not provided [RCV001882919] |
Chr17:5558471 [GRCh38]
Chr17:5461791 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.1079G>A (p.Arg360His) |
single nucleotide variant |
not provided [RCV002027329] |
Chr17:5559617 [GRCh38]
Chr17:5462937 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.2414A>G (p.Lys805Arg) |
single nucleotide variant |
not provided [RCV002013392] |
Chr17:5553500 [GRCh38]
Chr17:5456820 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.1606C>T (p.Arg536Trp) |
single nucleotide variant |
not provided [RCV001934373] |
Chr17:5559090 [GRCh38]
Chr17:5462410 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.436C>T (p.Arg146Cys) |
single nucleotide variant |
not provided [RCV001953049] |
Chr17:5582682 [GRCh38]
Chr17:5486002 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.1307C>T (p.Ala436Val) |
single nucleotide variant |
not provided [RCV002030069] |
Chr17:5559389 [GRCh38]
Chr17:5462709 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.1892C>T (p.Ala631Val) |
single nucleotide variant |
not provided [RCV001899485] |
Chr17:5558804 [GRCh38]
Chr17:5462124 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.3556C>T (p.His1186Tyr) |
single nucleotide variant |
not provided [RCV001897515] |
Chr17:5521751 [GRCh38]
Chr17:5425071 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.418C>A (p.Leu140Met) |
single nucleotide variant |
not provided [RCV001920669] |
Chr17:5582700 [GRCh38]
Chr17:5486020 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.2513dup (p.Leu839fs) |
duplication |
not provided [RCV001957323] |
Chr17:5553400..5553401 [GRCh38]
Chr17:5456720..5456721 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.1153G>A (p.Gly385Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV003161575]|not provided [RCV002110298] |
Chr17:5559543 [GRCh38]
Chr17:5462863 [GRCh37]
Chr17:17p13.2 |
likely benign|uncertain significance |
| NM_033004.4(NLRP1):c.3784-15C>T |
single nucleotide variant |
not provided [RCV002085614] |
Chr17:5521027 [GRCh38]
Chr17:5424347 [GRCh37]
Chr17:17p13.2 |
likely benign |
| NM_033004.4(NLRP1):c.768G>A (p.Glu256=) |
single nucleotide variant |
not provided [RCV002186173] |
Chr17:5559928 [GRCh38]
Chr17:5463248 [GRCh37]
Chr17:17p13.2 |
likely benign |
| NM_033004.4(NLRP1):c.180G>A (p.Gln60=) |
single nucleotide variant |
not provided [RCV002106026] |
Chr17:5583778 [GRCh38]
Chr17:5487098 [GRCh37]
Chr17:17p13.2 |
likely benign |
| NM_033004.4(NLRP1):c.3267G>A (p.Glu1089=) |
single nucleotide variant |
not provided [RCV002208125] |
Chr17:5532851 [GRCh38]
Chr17:5436171 [GRCh37]
Chr17:17p13.2 |
likely benign |
| NM_033004.4(NLRP1):c.2631C>T (p.Leu877=) |
single nucleotide variant |
not provided [RCV002109691] |
Chr17:5541925 [GRCh38]
Chr17:5445245 [GRCh37]
Chr17:17p13.2 |
likely benign |
| NM_033004.4(NLRP1):c.3642C>A (p.Pro1214=) |
single nucleotide variant |
not provided [RCV002148499] |
Chr17:5521665 [GRCh38]
Chr17:5424985 [GRCh37]
Chr17:17p13.2 |
likely benign |
| NM_033004.4(NLRP1):c.2334A>G (p.Thr778=) |
single nucleotide variant |
not provided [RCV002148017] |
Chr17:5558362 [GRCh38]
Chr17:5461682 [GRCh37]
Chr17:17p13.2 |
likely benign |
| NM_033004.4(NLRP1):c.318G>A (p.Gly106=) |
single nucleotide variant |
not provided [RCV002108714] |
Chr17:5582800 [GRCh38]
Chr17:5486120 [GRCh37]
Chr17:17p13.2 |
likely benign |
| NM_033004.4(NLRP1):c.792T>C (p.Cys264=) |
single nucleotide variant |
not provided [RCV002110123] |
Chr17:5559904 [GRCh38]
Chr17:5463224 [GRCh37]
Chr17:17p13.2 |
likely benign |
| NM_033004.4(NLRP1):c.3762A>G (p.Pro1254=) |
single nucleotide variant |
not provided [RCV002208950] |
Chr17:5521545 [GRCh38]
Chr17:5424865 [GRCh37]
Chr17:17p13.2 |
likely benign |
| NM_033004.4(NLRP1):c.1206A>T (p.Pro402=) |
single nucleotide variant |
not provided [RCV002189333] |
Chr17:5559490 [GRCh38]
Chr17:5462810 [GRCh37]
Chr17:17p13.2 |
likely benign |
| NM_033004.4(NLRP1):c.4347G>A (p.Lys1449=) |
single nucleotide variant |
not provided [RCV002207340] |
Chr17:5514829 [GRCh38]
Chr17:5418149 [GRCh37]
Chr17:17p13.2 |
benign |
| NM_033004.4(NLRP1):c.4086C>T (p.Ile1362=) |
single nucleotide variant |
not provided [RCV002106826] |
Chr17:5515489 [GRCh38]
Chr17:5418809 [GRCh37]
Chr17:17p13.2 |
likely benign |
| NM_033004.4(NLRP1):c.1239T>C (p.Asp413=) |
single nucleotide variant |
not provided [RCV002189566] |
Chr17:5559457 [GRCh38]
Chr17:5462777 [GRCh37]
Chr17:17p13.2 |
likely benign |
| NM_033004.4(NLRP1):c.4103-9C>T |
single nucleotide variant |
not provided [RCV002087133] |
Chr17:5515082 [GRCh38]
Chr17:5418402 [GRCh37]
Chr17:17p13.2 |
likely benign |
| NM_033004.4(NLRP1):c.1338A>G (p.Lys446=) |
single nucleotide variant |
not provided [RCV002086609] |
Chr17:5559358 [GRCh38]
Chr17:5462678 [GRCh37]
Chr17:17p13.2 |
likely benign |
| NM_033004.4(NLRP1):c.272-4G>A |
single nucleotide variant |
not provided [RCV002191099] |
Chr17:5582850 [GRCh38]
Chr17:5486170 [GRCh37]
Chr17:17p13.2 |
likely benign |
| NM_033004.4(NLRP1):c.4122T>C (p.Asp1374=) |
single nucleotide variant |
not provided [RCV002205579] |
Chr17:5515054 [GRCh38]
Chr17:5418374 [GRCh37]
Chr17:17p13.2 |
likely benign |
| NM_033004.4(NLRP1):c.3210G>A (p.Thr1070=) |
single nucleotide variant |
not provided [RCV002209718] |
Chr17:5532908 [GRCh38]
Chr17:5436228 [GRCh37]
Chr17:17p13.2 |
likely benign |
| NM_033004.4(NLRP1):c.342C>T (p.Thr114=) |
single nucleotide variant |
not provided [RCV002186201] |
Chr17:5582776 [GRCh38]
Chr17:5486096 [GRCh37]
Chr17:17p13.2 |
likely benign |
| NM_033004.4(NLRP1):c.3504C>T (p.His1168=) |
single nucleotide variant |
not provided [RCV002174208] |
Chr17:5530497 [GRCh38]
Chr17:5433817 [GRCh37]
Chr17:17p13.2 |
likely benign |
| NM_033004.4(NLRP1):c.449-8C>T |
single nucleotide variant |
not provided [RCV002117023] |
Chr17:5582070 [GRCh38]
Chr17:5485390 [GRCh37]
Chr17:17p13.2 |
likely benign |
| NM_033004.4(NLRP1):c.3309T>C (p.Pro1103=) |
single nucleotide variant |
not provided [RCV002212616] |
Chr17:5530692 [GRCh38]
Chr17:5434012 [GRCh37]
Chr17:17p13.2 |
likely benign |
| NM_033004.4(NLRP1):c.2870+19C>T |
single nucleotide variant |
not provided [RCV002076959] |
Chr17:5539396 [GRCh38]
Chr17:5442716 [GRCh37]
Chr17:17p13.2 |
likely benign |
| NM_033004.4(NLRP1):c.2870+9C>T |
single nucleotide variant |
not provided [RCV002131026] |
Chr17:5539406 [GRCh38]
Chr17:5442726 [GRCh37]
Chr17:17p13.2 |
likely benign |
| NM_033004.4(NLRP1):c.3297-7T>A |
single nucleotide variant |
not provided [RCV002108794] |
Chr17:5530711 [GRCh38]
Chr17:5434031 [GRCh37]
Chr17:17p13.2 |
likely benign |
| NM_033004.4(NLRP1):c.3489T>A (p.Ala1163=) |
single nucleotide variant |
not provided [RCV002170392] |
Chr17:5530512 [GRCh38]
Chr17:5433832 [GRCh37]
Chr17:17p13.2 |
likely benign |
| NM_033004.4(NLRP1):c.1305G>A (p.Pro435=) |
single nucleotide variant |
not provided [RCV002151770] |
Chr17:5559391 [GRCh38]
Chr17:5462711 [GRCh37]
Chr17:17p13.2 |
likely benign |
| NM_033004.4(NLRP1):c.3520+7A>C |
single nucleotide variant |
NLRP1-related condition [RCV003895835]|not provided [RCV002134997] |
Chr17:5530474 [GRCh38]
Chr17:5433794 [GRCh37]
Chr17:17p13.2 |
benign|likely benign |
| NM_033004.4(NLRP1):c.2556G>A (p.Glu852=) |
single nucleotide variant |
not provided [RCV002133007] |
Chr17:5542000 [GRCh38]
Chr17:5445320 [GRCh37]
Chr17:17p13.2 |
likely benign |
| NM_033004.4(NLRP1):c.4149C>T (p.Asp1383=) |
single nucleotide variant |
not provided [RCV002077564] |
Chr17:5515027 [GRCh38]
Chr17:5418347 [GRCh37]
Chr17:17p13.2 |
likely benign |
| NM_033004.4(NLRP1):c.2412C>T (p.Leu804=) |
single nucleotide variant |
NLRP1-related condition [RCV003951066]|not provided [RCV002115291] |
Chr17:5553502 [GRCh38]
Chr17:5456822 [GRCh37]
Chr17:17p13.2 |
likely benign |
| NM_033004.4(NLRP1):c.653-16T>C |
single nucleotide variant |
not provided [RCV002131617] |
Chr17:5560059 [GRCh38]
Chr17:5463379 [GRCh37]
Chr17:17p13.2 |
likely benign |
| NM_033004.4(NLRP1):c.3915+14T>G |
single nucleotide variant |
not provided [RCV002116346] |
Chr17:5520867 [GRCh38]
Chr17:5424187 [GRCh37]
Chr17:17p13.2 |
likely benign |
| NM_033004.4(NLRP1):c.3053-18T>C |
single nucleotide variant |
not provided [RCV002195848] |
Chr17:5533402 [GRCh38]
Chr17:5436722 [GRCh37]
Chr17:17p13.2 |
likely benign |
| NM_033004.4(NLRP1):c.449-17C>T |
single nucleotide variant |
not provided [RCV002151188] |
Chr17:5582079 [GRCh38]
Chr17:5485399 [GRCh37]
Chr17:17p13.2 |
likely benign |
| NM_033004.4(NLRP1):c.3945A>G (p.Gly1315=) |
single nucleotide variant |
not provided [RCV002078809] |
Chr17:5517858 [GRCh38]
Chr17:5421178 [GRCh37]
Chr17:17p13.2 |
likely benign |
| NM_033004.4(NLRP1):c.3520+9C>G |
single nucleotide variant |
not provided [RCV002151661] |
Chr17:5530472 [GRCh38]
Chr17:5433792 [GRCh37]
Chr17:17p13.2 |
likely benign |
| NM_033004.4(NLRP1):c.3133+11C>T |
single nucleotide variant |
not provided [RCV002191547] |
Chr17:5533293 [GRCh38]
Chr17:5436613 [GRCh37]
Chr17:17p13.2 |
likely benign |
| NM_033004.4(NLRP1):c.2940G>A (p.Gln980=) |
single nucleotide variant |
not provided [RCV002094732] |
Chr17:5536871 [GRCh38]
Chr17:5440191 [GRCh37]
Chr17:17p13.2 |
likely benign |
| NM_033004.4(NLRP1):c.708G>C (p.Ala236=) |
single nucleotide variant |
not provided [RCV002187445] |
Chr17:5559988 [GRCh38]
Chr17:5463308 [GRCh37]
Chr17:17p13.2 |
likely benign |
| NM_033004.4(NLRP1):c.3705G>A (p.Val1235=) |
single nucleotide variant |
not provided [RCV002115451] |
Chr17:5521602 [GRCh38]
Chr17:5424922 [GRCh37]
Chr17:17p13.2 |
likely benign |
| NM_033004.4(NLRP1):c.501G>A (p.Glu167=) |
single nucleotide variant |
not provided [RCV002207027] |
Chr17:5582010 [GRCh38]
Chr17:5485330 [GRCh37]
Chr17:17p13.2 |
likely benign |
| NM_033004.4(NLRP1):c.449-10T>C |
single nucleotide variant |
not provided [RCV002151243] |
Chr17:5582072 [GRCh38]
Chr17:5485392 [GRCh37]
Chr17:17p13.2 |
likely benign |
| NM_033004.4(NLRP1):c.3297-7T>C |
single nucleotide variant |
not provided [RCV002113798] |
Chr17:5530711 [GRCh38]
Chr17:5434031 [GRCh37]
Chr17:17p13.2 |
likely benign |
| NM_033004.4(NLRP1):c.3414G>A (p.Glu1138=) |
single nucleotide variant |
not provided [RCV002171065] |
Chr17:5530587 [GRCh38]
Chr17:5433907 [GRCh37]
Chr17:17p13.2 |
likely benign |
| NM_033004.4(NLRP1):c.2946C>T (p.Leu982=) |
single nucleotide variant |
not provided [RCV002150843] |
Chr17:5536865 [GRCh38]
Chr17:5440185 [GRCh37]
Chr17:17p13.2 |
likely benign |
| NM_033004.4(NLRP1):c.3972C>T (p.Tyr1324=) |
single nucleotide variant |
not provided [RCV002114978] |
Chr17:5517831 [GRCh38]
Chr17:5421151 [GRCh37]
Chr17:17p13.2 |
likely benign |
| NM_033004.4(NLRP1):c.1791T>C (p.Asp597=) |
single nucleotide variant |
not provided [RCV002153906] |
Chr17:5558905 [GRCh38]
Chr17:5462225 [GRCh37]
Chr17:17p13.2 |
likely benign |
| NM_033004.4(NLRP1):c.165G>A (p.Ser55=) |
single nucleotide variant |
not provided [RCV002201661] |
Chr17:5583793 [GRCh38]
Chr17:5487113 [GRCh37]
Chr17:17p13.2 |
likely benign |
| NM_033004.4(NLRP1):c.570T>G (p.Pro190=) |
single nucleotide variant |
not provided [RCV002179236] |
Chr17:5581941 [GRCh38]
Chr17:5485261 [GRCh37]
Chr17:17p13.2 |
likely benign |
| NM_033004.4(NLRP1):c.1161T>C (p.Asp387=) |
single nucleotide variant |
not provided [RCV002139481] |
Chr17:5559535 [GRCh38]
Chr17:5462855 [GRCh37]
Chr17:17p13.2 |
likely benign |
| NM_033004.4(NLRP1):c.3069T>C (p.His1023=) |
single nucleotide variant |
not provided [RCV002160147] |
Chr17:5533368 [GRCh38]
Chr17:5436688 [GRCh37]
Chr17:17p13.2 |
likely benign |
| NM_033004.4(NLRP1):c.1380C>G (p.Thr460=) |
single nucleotide variant |
not provided [RCV002136649] |
Chr17:5559316 [GRCh38]
Chr17:5462636 [GRCh37]
Chr17:17p13.2 |
benign |
| NM_033004.4(NLRP1):c.2400C>G (p.Leu800=) |
single nucleotide variant |
not provided [RCV002164766] |
Chr17:5553514 [GRCh38]
Chr17:5456834 [GRCh37]
Chr17:17p13.2 |
likely benign |
| NM_033004.4(NLRP1):c.2466C>T (p.His822=) |
single nucleotide variant |
not provided [RCV002157545] |
Chr17:5553448 [GRCh38]
Chr17:5456768 [GRCh37]
Chr17:17p13.2 |
likely benign |
| NM_033004.4(NLRP1):c.3052+18G>A |
single nucleotide variant |
not provided [RCV002142725] |
Chr17:5533879 [GRCh38]
Chr17:5437199 [GRCh37]
Chr17:17p13.2 |
likely benign |
| NM_033004.4(NLRP1):c.4058-6C>T |
single nucleotide variant |
not provided [RCV002160079] |
Chr17:5515523 [GRCh38]
Chr17:5418843 [GRCh37]
Chr17:17p13.2 |
likely benign |
| NM_033004.4(NLRP1):c.1176G>A (p.Pro392=) |
single nucleotide variant |
not provided [RCV002101825] |
Chr17:5559520 [GRCh38]
Chr17:5462840 [GRCh37]
Chr17:17p13.2 |
likely benign |
| NM_033004.4(NLRP1):c.3477A>C (p.Gly1159=) |
single nucleotide variant |
not provided [RCV002139154] |
Chr17:5530524 [GRCh38]
Chr17:5433844 [GRCh37]
Chr17:17p13.2 |
likely benign |
| NM_033004.4(NLRP1):c.636A>C (p.Ser212=) |
single nucleotide variant |
not provided [RCV002122733] |
Chr17:5581875 [GRCh38]
Chr17:5485195 [GRCh37]
Chr17:17p13.2 |
benign |
| NM_033004.4(NLRP1):c.4212T>C (p.His1404=) |
single nucleotide variant |
not provided [RCV002081437] |
Chr17:5514964 [GRCh38]
Chr17:5418284 [GRCh37]
Chr17:17p13.2 |
likely benign |
| NM_033004.4(NLRP1):c.103A>G (p.Arg35Gly) |
single nucleotide variant |
NLRP1-related condition [RCV003395411]|not provided [RCV002121453] |
Chr17:5583855 [GRCh38]
Chr17:5487175 [GRCh37]
Chr17:17p13.2 |
likely benign|uncertain significance |
| NM_033004.4(NLRP1):c.624G>A (p.Leu208=) |
single nucleotide variant |
not provided [RCV002122951] |
Chr17:5581887 [GRCh38]
Chr17:5485207 [GRCh37]
Chr17:17p13.2 |
benign |
| NM_033004.4(NLRP1):c.3306C>T (p.Phe1102=) |
single nucleotide variant |
not provided [RCV002177517] |
Chr17:5530695 [GRCh38]
Chr17:5434015 [GRCh37]
Chr17:17p13.2 |
likely benign |
| NM_033004.4(NLRP1):c.449-4C>T |
single nucleotide variant |
not provided [RCV002159667] |
Chr17:5582066 [GRCh38]
Chr17:5485386 [GRCh37]
Chr17:17p13.2 |
likely benign |
| NM_033004.4(NLRP1):c.3982T>C (p.Leu1328=) |
single nucleotide variant |
not provided [RCV002141005] |
Chr17:5517821 [GRCh38]
Chr17:5421141 [GRCh37]
Chr17:17p13.2 |
likely benign |
| NM_033004.4(NLRP1):c.1245A>G (p.Pro415=) |
single nucleotide variant |
not provided [RCV002100567] |
Chr17:5559451 [GRCh38]
Chr17:5462771 [GRCh37]
Chr17:17p13.2 |
likely benign |
| NM_033004.4(NLRP1):c.2960+10G>C |
single nucleotide variant |
not provided [RCV002161962] |
Chr17:5536841 [GRCh38]
Chr17:5440161 [GRCh37]
Chr17:17p13.2 |
likely benign |
| NM_033004.4(NLRP1):c.708G>A (p.Ala236=) |
single nucleotide variant |
not provided [RCV002084482] |
Chr17:5559988 [GRCh38]
Chr17:5463308 [GRCh37]
Chr17:17p13.2 |
likely benign |
| NM_033004.4(NLRP1):c.1752C>G (p.Thr584=) |
single nucleotide variant |
not provided [RCV002204104] |
Chr17:5558944 [GRCh38]
Chr17:5462264 [GRCh37]
Chr17:17p13.2 |
likely benign |
| NM_033004.4(NLRP1):c.1266G>A (p.Pro422=) |
single nucleotide variant |
not provided [RCV002101330] |
Chr17:5559430 [GRCh38]
Chr17:5462750 [GRCh37]
Chr17:17p13.2 |
likely benign |
| NM_033004.4(NLRP1):c.2841G>A (p.Arg947=) |
single nucleotide variant |
not provided [RCV002155489] |
Chr17:5539444 [GRCh38]
Chr17:5442764 [GRCh37]
Chr17:17p13.2 |
likely benign |
| NM_033004.4(NLRP1):c.4102+18G>A |
single nucleotide variant |
not provided [RCV002122966] |
Chr17:5515455 [GRCh38]
Chr17:5418775 [GRCh37]
Chr17:17p13.2 |
benign |
| NM_033004.4(NLRP1):c.3942T>C (p.Pro1314=) |
single nucleotide variant |
not provided [RCV002199610] |
Chr17:5517861 [GRCh38]
Chr17:5421181 [GRCh37]
Chr17:17p13.2 |
likely benign |
| NM_033004.4(NLRP1):c.1167A>C (p.Thr389=) |
single nucleotide variant |
not provided [RCV002140563] |
Chr17:5559529 [GRCh38]
Chr17:5462849 [GRCh37]
Chr17:17p13.2 |
likely benign |
| NM_033004.4(NLRP1):c.699A>G (p.Pro233=) |
single nucleotide variant |
not provided [RCV002083215] |
Chr17:5559997 [GRCh38]
Chr17:5463317 [GRCh37]
Chr17:17p13.2 |
likely benign |
| NM_033004.4(NLRP1):c.2829T>C (p.Cys943=) |
single nucleotide variant |
not provided [RCV002183131] |
Chr17:5539456 [GRCh38]
Chr17:5442776 [GRCh37]
Chr17:17p13.2 |
likely benign |
| NM_033004.4(NLRP1):c.4239C>T (p.Tyr1413=) |
single nucleotide variant |
not provided [RCV002119886] |
Chr17:5514937 [GRCh38]
Chr17:5418257 [GRCh37]
Chr17:17p13.2 |
likely benign |
| NM_033004.4(NLRP1):c.96G>T (p.Ala32=) |
single nucleotide variant |
not provided [RCV002123484] |
Chr17:5583862 [GRCh38]
Chr17:5487182 [GRCh37]
Chr17:17p13.2 |
likely benign |
| NM_033004.4(NLRP1):c.2319G>A (p.Arg773=) |
single nucleotide variant |
not provided [RCV002139638] |
Chr17:5558377 [GRCh38]
Chr17:5461697 [GRCh37]
Chr17:17p13.2 |
likely benign |
| NM_033004.4(NLRP1):c.1839C>T (p.His613=) |
single nucleotide variant |
not provided [RCV002104144] |
Chr17:5558857 [GRCh38]
Chr17:5462177 [GRCh37]
Chr17:17p13.2 |
likely benign |
| NM_033004.4(NLRP1):c.3784-11A>G |
single nucleotide variant |
not provided [RCV002218909] |
Chr17:5521023 [GRCh38]
Chr17:5424343 [GRCh37]
Chr17:17p13.2 |
likely benign |
| NM_033004.4(NLRP1):c.2157C>T (p.Leu719=) |
single nucleotide variant |
not provided [RCV002100678] |
Chr17:5558539 [GRCh38]
Chr17:5461859 [GRCh37]
Chr17:17p13.2 |
likely benign |
| NM_033004.4(NLRP1):c.732G>A (p.Ala244=) |
single nucleotide variant |
not provided [RCV002220013] |
Chr17:5559964 [GRCh38]
Chr17:5463284 [GRCh37]
Chr17:17p13.2 |
likely benign |
| NM_033004.4(NLRP1):c.3783+11G>A |
single nucleotide variant |
not provided [RCV002163182] |
Chr17:5521513 [GRCh38]
Chr17:5424833 [GRCh37]
Chr17:17p13.2 |
likely benign |
| NM_033004.4(NLRP1):c.2676G>C (p.Pro892=) |
single nucleotide variant |
not provided [RCV002159200] |
Chr17:5541880 [GRCh38]
Chr17:5445200 [GRCh37]
Chr17:17p13.2 |
likely benign |
| NM_033004.4(NLRP1):c.112T>C (p.Ser38Pro) |
single nucleotide variant |
not provided [RCV003116874] |
Chr17:5583846 [GRCh38]
Chr17:5487166 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.3214C>G (p.Pro1072Ala) |
single nucleotide variant |
not provided [RCV003112633] |
Chr17:5532904 [GRCh38]
Chr17:5436224 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NC_000017.10:g.(?_5289526)_(6616652_?)dup |
duplication |
Developmental and epileptic encephalopathy, 25 [RCV003113887] |
Chr17:5289526..6616652 [GRCh37]
Chr17:17p13.2-13.1 |
uncertain significance |
| NM_033004.4(NLRP1):c.900G>A (p.Trp300Ter) |
single nucleotide variant |
not provided [RCV003118657] |
Chr17:5559796 [GRCh38]
Chr17:5463116 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.1396C>T (p.Leu466Phe) |
single nucleotide variant |
not provided [RCV003122073] |
Chr17:5559300 [GRCh38]
Chr17:5462620 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.2283C>T (p.Ser761=) |
single nucleotide variant |
not provided [RCV003119004] |
Chr17:5558413 [GRCh38]
Chr17:5461733 [GRCh37]
Chr17:17p13.2 |
likely benign |
| NC_000017.10:g.(?_5418074)_(5421227_?)del |
deletion |
not provided [RCV003122922] |
Chr17:5418074..5421227 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NC_000017.10:g.(?_5442715)_(5445367_?)del |
deletion |
not provided [RCV003122923] |
Chr17:5442715..5445367 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NC_000017.10:g.(?_5418074)_(5487277_?)dup |
duplication |
not provided [RCV003122924] |
Chr17:5418074..5487277 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NC_000017.10:g.(?_5456686)_(5487277_?)dup |
duplication |
not provided [RCV003122925] |
Chr17:5456686..5487277 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.4185G>A (p.Ser1395=) |
single nucleotide variant |
not provided [RCV003105028] |
Chr17:5514991 [GRCh38]
Chr17:5418311 [GRCh37]
Chr17:17p13.2 |
likely benign |
| NM_033004.4(NLRP1):c.1409T>C (p.Leu470Ser) |
single nucleotide variant |
not provided [RCV002292943] |
Chr17:5559287 [GRCh38]
Chr17:5462607 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.1753C>T (p.Leu585Phe) |
single nucleotide variant |
not provided [RCV002279024] |
Chr17:5558943 [GRCh38]
Chr17:5462263 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.3820C>T (p.Arg1274Ter) |
single nucleotide variant |
not provided [RCV002263065] |
Chr17:5520976 [GRCh38]
Chr17:5424296 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.2182_2186delinsTTGTACGAGACTT (p.Lys728fs) |
indel |
not provided [RCV002292942] |
Chr17:5558510..5558514 [GRCh38]
Chr17:5461830..5461834 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| GRCh37/hg19 17p13.2(chr17:5399850-5601196)x3 |
copy number gain |
not provided [RCV002472839] |
Chr17:5399850..5601196 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.4396A>G (p.Lys1466Glu) |
single nucleotide variant |
not provided [RCV002304154] |
Chr17:5514780 [GRCh38]
Chr17:5418100 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.3572G>T (p.Gly1191Val) |
single nucleotide variant |
not provided [RCV002304620] |
Chr17:5521735 [GRCh38]
Chr17:5425055 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.2828G>A (p.Cys943Tyr) |
single nucleotide variant |
not provided [RCV002305389] |
Chr17:5539457 [GRCh38]
Chr17:5442777 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.2071C>T (p.His691Tyr) |
single nucleotide variant |
not provided [RCV002296343] |
Chr17:5558625 [GRCh38]
Chr17:5461945 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.2205G>A (p.Met735Ile) |
single nucleotide variant |
not provided [RCV002299529] |
Chr17:5558491 [GRCh38]
Chr17:5461811 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.3694A>T (p.Thr1232Ser) |
single nucleotide variant |
not provided [RCV002299424] |
Chr17:5521613 [GRCh38]
Chr17:5424933 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.3760C>A (p.Pro1254Thr) |
single nucleotide variant |
not provided [RCV002296601] |
Chr17:5521547 [GRCh38]
Chr17:5424867 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.1845C>G (p.Ile615Met) |
single nucleotide variant |
not provided [RCV002300244] |
Chr17:5558851 [GRCh38]
Chr17:5462171 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.913G>A (p.Glu305Lys) |
single nucleotide variant |
not provided [RCV002299991] |
Chr17:5559783 [GRCh38]
Chr17:5463103 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.896G>A (p.Ser299Asn) |
single nucleotide variant |
not provided [RCV002301155] |
Chr17:5559800 [GRCh38]
Chr17:5463120 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.4288T>G (p.Phe1430Val) |
single nucleotide variant |
not provided [RCV002301914] |
Chr17:5514888 [GRCh38]
Chr17:5418208 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.308C>T (p.Pro103Leu) |
single nucleotide variant |
not provided [RCV002301954] |
Chr17:5582810 [GRCh38]
Chr17:5486130 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.278C>A (p.Ser93Tyr) |
single nucleotide variant |
not provided [RCV002301957] |
Chr17:5582840 [GRCh38]
Chr17:5486160 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.1951A>G (p.Ile651Val) |
single nucleotide variant |
not provided [RCV002302279] |
Chr17:5558745 [GRCh38]
Chr17:5462065 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.1426G>A (p.Val476Ile) |
single nucleotide variant |
not provided [RCV002297907] |
Chr17:5559270 [GRCh38]
Chr17:5462590 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.1377G>C (p.Arg459=) |
single nucleotide variant |
not provided [RCV003013863] |
Chr17:5559319 [GRCh38]
Chr17:5462639 [GRCh37]
Chr17:17p13.2 |
likely benign |
| NM_033004.4(NLRP1):c.1021_1022insA (p.Ser341fs) |
insertion |
not provided [RCV002838240] |
Chr17:5559674..5559675 [GRCh38]
Chr17:5462994..5462995 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.3783+8T>G |
single nucleotide variant |
not provided [RCV002903287] |
Chr17:5521516 [GRCh38]
Chr17:5424836 [GRCh37]
Chr17:17p13.2 |
likely benign |
| NM_033004.4(NLRP1):c.3895A>G (p.Met1299Val) |
single nucleotide variant |
not provided [RCV002904734] |
Chr17:5520901 [GRCh38]
Chr17:5424221 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.3335A>G (p.Asn1112Ser) |
single nucleotide variant |
not provided [RCV002616500] |
Chr17:5530666 [GRCh38]
Chr17:5433986 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.2871G>C (p.Gly957=) |
single nucleotide variant |
not provided [RCV002681426] |
Chr17:5536940 [GRCh38]
Chr17:5440260 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.1763C>T (p.Pro588Leu) |
single nucleotide variant |
not provided [RCV002726867] |
Chr17:5558933 [GRCh38]
Chr17:5462253 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.1464A>G (p.Glu488=) |
single nucleotide variant |
not provided [RCV002903378] |
Chr17:5559232 [GRCh38]
Chr17:5462552 [GRCh37]
Chr17:17p13.2 |
likely benign |
| NM_033004.4(NLRP1):c.2895T>C (p.Asp965=) |
single nucleotide variant |
not provided [RCV002858585] |
Chr17:5536916 [GRCh38]
Chr17:5440236 [GRCh37]
Chr17:17p13.2 |
likely benign |
| NM_033004.4(NLRP1):c.3229G>A (p.Asp1077Asn) |
single nucleotide variant |
not provided [RCV002616067] |
Chr17:5532889 [GRCh38]
Chr17:5436209 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.4053A>G (p.Lys1351=) |
single nucleotide variant |
not provided [RCV002994532] |
Chr17:5517750 [GRCh38]
Chr17:5421070 [GRCh37]
Chr17:17p13.2 |
likely benign |
| NM_033004.4(NLRP1):c.3307C>T (p.Pro1103Ser) |
single nucleotide variant |
not provided [RCV002614528] |
Chr17:5530694 [GRCh38]
Chr17:5434014 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.1722G>A (p.Leu574=) |
single nucleotide variant |
not provided [RCV002734806] |
Chr17:5558974 [GRCh38]
Chr17:5462294 [GRCh37]
Chr17:17p13.2 |
likely benign |
| NM_033004.4(NLRP1):c.56A>G (p.Glu19Gly) |
single nucleotide variant |
not provided [RCV002903420] |
Chr17:5583902 [GRCh38]
Chr17:5487222 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.4095_4096delinsTT (p.Arg1366Cys) |
indel |
not provided [RCV002756460] |
Chr17:5515479..5515480 [GRCh38]
Chr17:5418799..5418800 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.2689C>A (p.Gln897Lys) |
single nucleotide variant |
not provided [RCV002755218] |
Chr17:5541867 [GRCh38]
Chr17:5445187 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.760C>T (p.Pro254Ser) |
single nucleotide variant |
not provided [RCV003076937] |
Chr17:5559936 [GRCh38]
Chr17:5463256 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.57G>A (p.Glu19=) |
single nucleotide variant |
not provided [RCV002726233] |
Chr17:5583901 [GRCh38]
Chr17:5487221 [GRCh37]
Chr17:17p13.2 |
likely benign |
| NM_033004.4(NLRP1):c.1375C>A (p.Arg459=) |
single nucleotide variant |
not provided [RCV003016008] |
Chr17:5559321 [GRCh38]
Chr17:5462641 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.1175C>T (p.Pro392Leu) |
single nucleotide variant |
not provided [RCV002794982] |
Chr17:5559521 [GRCh38]
Chr17:5462841 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.271+18C>T |
single nucleotide variant |
not provided [RCV002975038] |
Chr17:5583669 [GRCh38]
Chr17:5486989 [GRCh37]
Chr17:17p13.2 |
likely benign |
| NM_033004.4(NLRP1):c.2698C>T (p.Gln900Ter) |
single nucleotide variant |
not provided [RCV002819327] |
Chr17:5541858 [GRCh38]
Chr17:5445178 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.1980T>C (p.Tyr660=) |
single nucleotide variant |
not provided [RCV002861473] |
Chr17:5558716 [GRCh38]
Chr17:5462036 [GRCh37]
Chr17:17p13.2 |
likely benign |
| NM_033004.4(NLRP1):c.2712T>A (p.Cys904Ter) |
single nucleotide variant |
not provided [RCV002881809] |
Chr17:5539573 [GRCh38]
Chr17:5442893 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.2608C>T (p.Leu870=) |
single nucleotide variant |
not provided [RCV002614197] |
Chr17:5541948 [GRCh38]
Chr17:5445268 [GRCh37]
Chr17:17p13.2 |
likely benign |
| NM_033004.4(NLRP1):c.3110T>C (p.Ile1037Thr) |
single nucleotide variant |
not provided [RCV003014960] |
Chr17:5533327 [GRCh38]
Chr17:5436647 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.3052+11G>C |
single nucleotide variant |
not provided [RCV002730080] |
Chr17:5533886 [GRCh38]
Chr17:5437206 [GRCh37]
Chr17:17p13.2 |
likely benign |
| NM_033004.4(NLRP1):c.2653C>T (p.Leu885Phe) |
single nucleotide variant |
Inborn genetic diseases [RCV002682017] |
Chr17:5541903 [GRCh38]
Chr17:5445223 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.447A>G (p.Arg149=) |
single nucleotide variant |
not provided [RCV002880289] |
Chr17:5582671 [GRCh38]
Chr17:5485991 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.1557G>A (p.Val519=) |
single nucleotide variant |
not provided [RCV002971245] |
Chr17:5559139 [GRCh38]
Chr17:5462459 [GRCh37]
Chr17:17p13.2 |
likely benign |
| NM_033004.4(NLRP1):c.3060G>A (p.Ala1020=) |
single nucleotide variant |
not provided [RCV002751289] |
Chr17:5533377 [GRCh38]
Chr17:5436697 [GRCh37]
Chr17:17p13.2 |
likely benign |
| NM_033004.4(NLRP1):c.551G>A (p.Gly184Glu) |
single nucleotide variant |
Inborn genetic diseases [RCV003384337]|not provided [RCV003095609] |
Chr17:5581960 [GRCh38]
Chr17:5485280 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.3133+12G>A |
single nucleotide variant |
not provided [RCV002613595] |
Chr17:5533292 [GRCh38]
Chr17:5436612 [GRCh37]
Chr17:17p13.2 |
likely benign |
| NM_033004.4(NLRP1):c.2474T>C (p.Val825Ala) |
single nucleotide variant |
not provided [RCV002685600] |
Chr17:5553440 [GRCh38]
Chr17:5456760 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.1252G>A (p.Val418Ile) |
single nucleotide variant |
not provided [RCV002842088] |
Chr17:5559444 [GRCh38]
Chr17:5462764 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.2186C>T (p.Thr729Met) |
single nucleotide variant |
Inborn genetic diseases [RCV002841147] |
Chr17:5558510 [GRCh38]
Chr17:5461830 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.2147T>C (p.Leu716Pro) |
single nucleotide variant |
not provided [RCV002618676] |
Chr17:5558549 [GRCh38]
Chr17:5461869 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.2974A>G (p.Met992Val) |
single nucleotide variant |
not provided [RCV002613588] |
Chr17:5533975 [GRCh38]
Chr17:5437295 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.972C>A (p.Thr324=) |
single nucleotide variant |
not provided [RCV002880288] |
Chr17:5559724 [GRCh38]
Chr17:5463044 [GRCh37]
Chr17:17p13.2 |
likely benign |
| NM_033004.4(NLRP1):c.3019A>G (p.Thr1007Ala) |
single nucleotide variant |
not provided [RCV002881138] |
Chr17:5533930 [GRCh38]
Chr17:5437250 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.395C>T (p.Ser132Leu) |
single nucleotide variant |
not provided [RCV002842925] |
Chr17:5582723 [GRCh38]
Chr17:5486043 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.1930G>C (p.Gly644Arg) |
single nucleotide variant |
not provided [RCV003014928] |
Chr17:5558766 [GRCh38]
Chr17:5462086 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.3643T>A (p.Leu1215Met) |
single nucleotide variant |
not provided [RCV003055655] |
Chr17:5521664 [GRCh38]
Chr17:5424984 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.3783+1G>C |
single nucleotide variant |
not provided [RCV002639381] |
Chr17:5521523 [GRCh38]
Chr17:5424843 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.2700-2A>C |
single nucleotide variant |
not provided [RCV002623017] |
Chr17:5539587 [GRCh38]
Chr17:5442907 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.2439G>A (p.Leu813=) |
single nucleotide variant |
not provided [RCV002871314] |
Chr17:5553475 [GRCh38]
Chr17:5456795 [GRCh37]
Chr17:17p13.2 |
likely benign |
| NM_033004.4(NLRP1):c.2965C>G (p.Pro989Ala) |
single nucleotide variant |
not provided [RCV002639484] |
Chr17:5533984 [GRCh38]
Chr17:5437304 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.3860G>C (p.Gly1287Ala) |
single nucleotide variant |
not provided [RCV003035782] |
Chr17:5520936 [GRCh38]
Chr17:5424256 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.2755A>C (p.Ser919Arg) |
single nucleotide variant |
not provided [RCV002659553] |
Chr17:5539530 [GRCh38]
Chr17:5442850 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.448+12T>C |
single nucleotide variant |
not provided [RCV002760800] |
Chr17:5582658 [GRCh38]
Chr17:5485978 [GRCh37]
Chr17:17p13.2 |
likely benign |
| NM_033004.4(NLRP1):c.3665T>A (p.Ile1222Asn) |
single nucleotide variant |
not provided [RCV003055322] |
Chr17:5521642 [GRCh38]
Chr17:5424962 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.1850T>G (p.Leu617Arg) |
single nucleotide variant |
not provided [RCV003002975] |
Chr17:5558846 [GRCh38]
Chr17:5462166 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.4292G>T (p.Ser1431Ile) |
single nucleotide variant |
not provided [RCV002622820] |
Chr17:5514884 [GRCh38]
Chr17:5418204 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.3376G>A (p.Glu1126Lys) |
single nucleotide variant |
not provided [RCV002590488] |
Chr17:5530625 [GRCh38]
Chr17:5433945 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.3297-11C>A |
single nucleotide variant |
not provided [RCV002866423] |
Chr17:5530715 [GRCh38]
Chr17:5434035 [GRCh37]
Chr17:17p13.2 |
likely benign |
| NM_033004.4(NLRP1):c.2634G>A (p.Thr878=) |
single nucleotide variant |
not provided [RCV002637710] |
Chr17:5541922 [GRCh38]
Chr17:5445242 [GRCh37]
Chr17:17p13.2 |
likely benign |
| NM_033004.4(NLRP1):c.1325G>A (p.Ser442Asn) |
single nucleotide variant |
Inborn genetic diseases [RCV002738472] |
Chr17:5559371 [GRCh38]
Chr17:5462691 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.3133+8C>G |
single nucleotide variant |
not provided [RCV002638806] |
Chr17:5533296 [GRCh38]
Chr17:5436616 [GRCh37]
Chr17:17p13.2 |
likely benign |
| NM_033004.4(NLRP1):c.1439G>A (p.Gly480Glu) |
single nucleotide variant |
not provided [RCV002781173] |
Chr17:5559257 [GRCh38]
Chr17:5462577 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.1420C>T (p.Arg474Cys) |
single nucleotide variant |
not provided [RCV002636935] |
Chr17:5559276 [GRCh38]
Chr17:5462596 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.1344A>G (p.Ile448Met) |
single nucleotide variant |
Inborn genetic diseases [RCV002798197] |
Chr17:5559352 [GRCh38]
Chr17:5462672 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.799T>C (p.Trp267Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV002868692] |
Chr17:5559897 [GRCh38]
Chr17:5463217 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.647A>T (p.Tyr216Phe) |
single nucleotide variant |
not provided [RCV002796944] |
Chr17:5581864 [GRCh38]
Chr17:5485184 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.448+1G>A |
single nucleotide variant |
not provided [RCV002797267] |
Chr17:5582669 [GRCh38]
Chr17:5485989 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.289C>T (p.Pro97Ser) |
single nucleotide variant |
not provided [RCV002569908] |
Chr17:5582829 [GRCh38]
Chr17:5486149 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.3133+16C>T |
single nucleotide variant |
not provided [RCV002847837] |
Chr17:5533288 [GRCh38]
Chr17:5436608 [GRCh37]
Chr17:17p13.2 |
likely benign |
| NM_033004.4(NLRP1):c.983G>A (p.Arg328His) |
single nucleotide variant |
not provided [RCV002590491] |
Chr17:5559713 [GRCh38]
Chr17:5463033 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.2077C>T (p.Arg693Trp) |
single nucleotide variant |
not provided [RCV002999209] |
Chr17:5558619 [GRCh38]
Chr17:5461939 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.1159G>T (p.Asp387Tyr) |
single nucleotide variant |
not provided [RCV002785543] |
Chr17:5559537 [GRCh38]
Chr17:5462857 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.2388T>C (p.Tyr796=) |
single nucleotide variant |
not provided [RCV002620539] |
Chr17:5553526 [GRCh38]
Chr17:5456846 [GRCh37]
Chr17:17p13.2 |
likely benign |
| NM_033004.4(NLRP1):c.1011A>C (p.Gly337=) |
single nucleotide variant |
not provided [RCV003017832] |
Chr17:5559685 [GRCh38]
Chr17:5463005 [GRCh37]
Chr17:17p13.2 |
likely benign |
| NM_033004.4(NLRP1):c.1489G>A (p.Glu497Lys) |
single nucleotide variant |
not provided [RCV002823785] |
Chr17:5559207 [GRCh38]
Chr17:5462527 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.126C>T (p.Pro42=) |
single nucleotide variant |
not provided [RCV002976156] |
Chr17:5583832 [GRCh38]
Chr17:5487152 [GRCh37]
Chr17:17p13.2 |
likely benign |
| NM_033004.4(NLRP1):c.3209C>T (p.Thr1070Met) |
single nucleotide variant |
not provided [RCV003038665] |
Chr17:5532909 [GRCh38]
Chr17:5436229 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.2666T>C (p.Leu889Pro) |
single nucleotide variant |
not provided [RCV002735139] |
Chr17:5541890 [GRCh38]
Chr17:5445210 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.673_676del (p.Glu225fs) |
microsatellite |
not provided [RCV002621102] |
Chr17:5560020..5560023 [GRCh38]
Chr17:5463340..5463343 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.3357G>T (p.Met1119Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV002823615] |
Chr17:5530644 [GRCh38]
Chr17:5433964 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.2083T>C (p.Ser695Pro) |
single nucleotide variant |
NLRP1-related condition [RCV003427489]|not provided [RCV002570996] |
Chr17:5558613 [GRCh38]
Chr17:5461933 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.3366G>A (p.Ala1122=) |
single nucleotide variant |
not provided [RCV002592755] |
Chr17:5530635 [GRCh38]
Chr17:5433955 [GRCh37]
Chr17:17p13.2 |
likely benign |
| NM_033004.4(NLRP1):c.1336A>G (p.Lys446Glu) |
single nucleotide variant |
not provided [RCV002909658] |
Chr17:5559360 [GRCh38]
Chr17:5462680 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.3519A>G (p.Gln1173=) |
single nucleotide variant |
not provided [RCV002760477] |
Chr17:5530482 [GRCh38]
Chr17:5433802 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.2289C>T (p.His763=) |
single nucleotide variant |
not provided [RCV003079482] |
Chr17:5558407 [GRCh38]
Chr17:5461727 [GRCh37]
Chr17:17p13.2 |
likely benign |
| NM_033004.4(NLRP1):c.22C>A (p.Arg8Ser) |
single nucleotide variant |
not provided [RCV002639616] |
Chr17:5583936 [GRCh38]
Chr17:5487256 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.2285G>A (p.Arg762His) |
single nucleotide variant |
not provided [RCV002761543] |
Chr17:5558411 [GRCh38]
Chr17:5461731 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.1190A>C (p.Gln397Pro) |
single nucleotide variant |
Inborn genetic diseases [RCV003036584]|not provided [RCV003055956] |
Chr17:5559506 [GRCh38]
Chr17:5462826 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.894A>C (p.Arg298Ser) |
single nucleotide variant |
not provided [RCV002913475] |
Chr17:5559802 [GRCh38]
Chr17:5463122 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.3527A>G (p.His1176Arg) |
single nucleotide variant |
not provided [RCV002781001] |
Chr17:5521780 [GRCh38]
Chr17:5425100 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.1038G>A (p.Gln346=) |
single nucleotide variant |
not provided [RCV002663878] |
Chr17:5559658 [GRCh38]
Chr17:5462978 [GRCh37]
Chr17:17p13.2 |
likely benign |
| NM_033004.4(NLRP1):c.2961-12T>C |
single nucleotide variant |
not provided [RCV002790446] |
Chr17:5534000 [GRCh38]
Chr17:5437320 [GRCh37]
Chr17:17p13.2 |
likely benign |
| NM_033004.4(NLRP1):c.1134G>T (p.Val378=) |
single nucleotide variant |
not provided [RCV002872534] |
Chr17:5559562 [GRCh38]
Chr17:5462882 [GRCh37]
Chr17:17p13.2 |
likely benign |
| NM_033004.4(NLRP1):c.2093G>A (p.Arg698Lys) |
single nucleotide variant |
not provided [RCV002919025] |
Chr17:5558603 [GRCh38]
Chr17:5461923 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.1321G>A (p.Gly441Ser) |
single nucleotide variant |
not provided [RCV002701025] |
Chr17:5559375 [GRCh38]
Chr17:5462695 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.3302A>G (p.His1101Arg) |
single nucleotide variant |
not provided [RCV003059455] |
Chr17:5530699 [GRCh38]
Chr17:5434019 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.272G>A (p.Gly91Asp) |
single nucleotide variant |
not provided [RCV003025234] |
Chr17:5582846 [GRCh38]
Chr17:5486166 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.1265C>T (p.Pro422Leu) |
single nucleotide variant |
not provided [RCV002642920] |
Chr17:5559431 [GRCh38]
Chr17:5462751 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.539C>T (p.Thr180Ile) |
single nucleotide variant |
not provided [RCV002593595] |
Chr17:5581972 [GRCh38]
Chr17:5485292 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.2960+10del |
deletion |
not provided [RCV002872019] |
Chr17:5536841 [GRCh38]
Chr17:5440161 [GRCh37]
Chr17:17p13.2 |
benign |
| NM_033004.4(NLRP1):c.1658A>G (p.His553Arg) |
single nucleotide variant |
not provided [RCV002643358] |
Chr17:5559038 [GRCh38]
Chr17:5462358 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.3886G>A (p.Gly1296Ser) |
single nucleotide variant |
not provided [RCV003023800] |
Chr17:5520910 [GRCh38]
Chr17:5424230 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.2338A>G (p.Ser780Gly) |
single nucleotide variant |
not provided [RCV002953892] |
Chr17:5558358 [GRCh38]
Chr17:5461678 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.652+17C>T |
single nucleotide variant |
not provided [RCV003023189] |
Chr17:5581842 [GRCh38]
Chr17:5485162 [GRCh37]
Chr17:17p13.2 |
likely benign |
| NM_033004.4(NLRP1):c.2874G>A (p.Leu958=) |
single nucleotide variant |
not provided [RCV003082889] |
Chr17:5536937 [GRCh38]
Chr17:5440257 [GRCh37]
Chr17:17p13.2 |
likely benign|uncertain significance |
| NM_033004.4(NLRP1):c.2274T>A (p.Ile758=) |
single nucleotide variant |
not provided [RCV002643582] |
Chr17:5558422 [GRCh38]
Chr17:5461742 [GRCh37]
Chr17:17p13.2 |
likely benign |
| NM_033004.4(NLRP1):c.3690C>T (p.Pro1230=) |
single nucleotide variant |
not provided [RCV002625720] |
Chr17:5521617 [GRCh38]
Chr17:5424937 [GRCh37]
Chr17:17p13.2 |
likely benign |
| NM_033004.4(NLRP1):c.653-11C>A |
single nucleotide variant |
not provided [RCV003039799] |
Chr17:5560054 [GRCh38]
Chr17:5463374 [GRCh37]
Chr17:17p13.2 |
likely benign |
| NM_033004.4(NLRP1):c.1098C>T (p.Tyr366=) |
single nucleotide variant |
not provided [RCV002791346] |
Chr17:5559598 [GRCh38]
Chr17:5462918 [GRCh37]
Chr17:17p13.2 |
likely benign |
| NM_033004.4(NLRP1):c.2763C>T (p.Ser921=) |
single nucleotide variant |
not provided [RCV002954007] |
Chr17:5539522 [GRCh38]
Chr17:5442842 [GRCh37]
Chr17:17p13.2 |
likely benign |
| NM_033004.4(NLRP1):c.3059C>T (p.Ala1020Val) |
single nucleotide variant |
not provided [RCV002700838] |
Chr17:5533378 [GRCh38]
Chr17:5436698 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.86C>T (p.Ala29Val) |
single nucleotide variant |
Inborn genetic diseases [RCV002916230]|not provided [RCV003699002] |
Chr17:5583872 [GRCh38]
Chr17:5487192 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.2855A>T (p.Lys952Ile) |
single nucleotide variant |
not provided [RCV003023559] |
Chr17:5539430 [GRCh38]
Chr17:5442750 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.10G>A (p.Gly4Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV002664454]|not provided [RCV003561069] |
Chr17:5583948 [GRCh38]
Chr17:5487268 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.449-4C>G |
single nucleotide variant |
not provided [RCV002872672] |
Chr17:5582066 [GRCh38]
Chr17:5485386 [GRCh37]
Chr17:17p13.2 |
likely benign |
| NM_033004.4(NLRP1):c.3720C>T (p.Arg1240=) |
single nucleotide variant |
not provided [RCV003007207] |
Chr17:5521587 [GRCh38]
Chr17:5424907 [GRCh37]
Chr17:17p13.2 |
likely benign |
| NM_033004.4(NLRP1):c.3297-10T>G |
single nucleotide variant |
not provided [RCV002894092] |
Chr17:5530714 [GRCh38]
Chr17:5434034 [GRCh37]
Chr17:17p13.2 |
likely benign |
| NM_033004.4(NLRP1):c.1693G>A (p.Gly565Arg) |
single nucleotide variant |
not provided [RCV002595635] |
Chr17:5559003 [GRCh38]
Chr17:5462323 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.3134-19C>T |
single nucleotide variant |
not provided [RCV002712088] |
Chr17:5533003 [GRCh38]
Chr17:5436323 [GRCh37]
Chr17:17p13.2 |
likely benign |
| NM_033004.4(NLRP1):c.1092C>G (p.Val364=) |
single nucleotide variant |
not provided [RCV002872051] |
Chr17:5559604 [GRCh38]
Chr17:5462924 [GRCh37]
Chr17:17p13.2 |
likely benign |
| NM_033004.4(NLRP1):c.2638G>A (p.Ala880Thr) |
single nucleotide variant |
NLRP1-related condition [RCV003404027]|not provided [RCV003040138] |
Chr17:5541918 [GRCh38]
Chr17:5445238 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.320del (p.Ser107fs) |
deletion |
not provided [RCV002578890] |
Chr17:5582798 [GRCh38]
Chr17:5486118 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.1669C>G (p.Gln557Glu) |
single nucleotide variant |
Inborn genetic diseases [RCV002939549] |
Chr17:5559027 [GRCh38]
Chr17:5462347 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.1453A>G (p.Ser485Gly) |
single nucleotide variant |
not provided [RCV002601517] |
Chr17:5559243 [GRCh38]
Chr17:5462563 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.963C>A (p.Gly321=) |
single nucleotide variant |
not provided [RCV002602190] |
Chr17:5559733 [GRCh38]
Chr17:5463053 [GRCh37]
Chr17:17p13.2 |
likely benign |
| NM_033004.4(NLRP1):c.3053-4G>T |
single nucleotide variant |
not provided [RCV002675727] |
Chr17:5533388 [GRCh38]
Chr17:5436708 [GRCh37]
Chr17:17p13.2 |
likely benign |
| NM_033004.4(NLRP1):c.23G>A (p.Arg8His) |
single nucleotide variant |
not provided [RCV002581562] |
Chr17:5583935 [GRCh38]
Chr17:5487255 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.1054G>T (p.Gly352Trp) |
single nucleotide variant |
not provided [RCV002581563] |
Chr17:5559642 [GRCh38]
Chr17:5462962 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.3915+9C>T |
single nucleotide variant |
not provided [RCV002721235] |
Chr17:5520872 [GRCh38]
Chr17:5424192 [GRCh37]
Chr17:17p13.2 |
likely benign |
| NM_033004.4(NLRP1):c.3380T>C (p.Ile1127Thr) |
single nucleotide variant |
not provided [RCV002676480] |
Chr17:5530621 [GRCh38]
Chr17:5433941 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.418C>G (p.Leu140Val) |
single nucleotide variant |
not provided [RCV002602018] |
Chr17:5582700 [GRCh38]
Chr17:5486020 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.3573G>T (p.Gly1191=) |
single nucleotide variant |
not provided [RCV002598367] |
Chr17:5521734 [GRCh38]
Chr17:5425054 [GRCh37]
Chr17:17p13.2 |
likely benign |
| NM_033004.4(NLRP1):c.2109G>T (p.Trp703Cys) |
single nucleotide variant |
not provided [RCV003048864] |
Chr17:5558587 [GRCh38]
Chr17:5461907 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.2214C>T (p.Phe738=) |
single nucleotide variant |
not provided [RCV002602639] |
Chr17:5558482 [GRCh38]
Chr17:5461802 [GRCh37]
Chr17:17p13.2 |
likely benign |
| NM_033004.4(NLRP1):c.1371G>A (p.Thr457=) |
single nucleotide variant |
not provided [RCV002715076] |
Chr17:5559325 [GRCh38]
Chr17:5462645 [GRCh37]
Chr17:17p13.2 |
likely benign |
| NM_033004.4(NLRP1):c.3647G>A (p.Gly1216Glu) |
single nucleotide variant |
not provided [RCV002671617] |
Chr17:5521660 [GRCh38]
Chr17:5424980 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.3296+10G>A |
single nucleotide variant |
not provided [RCV003060943] |
Chr17:5532812 [GRCh38]
Chr17:5436132 [GRCh37]
Chr17:17p13.2 |
likely benign |
| NM_033004.4(NLRP1):c.1560C>T (p.Pro520=) |
single nucleotide variant |
not provided [RCV002578732] |
Chr17:5559136 [GRCh38]
Chr17:5462456 [GRCh37]
Chr17:17p13.2 |
likely benign |
| NM_033004.4(NLRP1):c.1607G>A (p.Arg536Gln) |
single nucleotide variant |
not provided [RCV003088761] |
Chr17:5559089 [GRCh38]
Chr17:5462409 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.4242G>A (p.Glu1414=) |
single nucleotide variant |
not provided [RCV002899096] |
Chr17:5514934 [GRCh38]
Chr17:5418254 [GRCh37]
Chr17:17p13.2 |
likely benign |
| NM_033004.4(NLRP1):c.4103-8G>A |
single nucleotide variant |
not provided [RCV002714813] |
Chr17:5515081 [GRCh38]
Chr17:5418401 [GRCh37]
Chr17:17p13.2 |
likely benign |
| NM_033004.4(NLRP1):c.2819G>A (p.Arg940Gln) |
single nucleotide variant |
Inborn genetic diseases [RCV002807823] |
Chr17:5539466 [GRCh38]
Chr17:5442786 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.3778C>T (p.Arg1260Trp) |
single nucleotide variant |
not provided [RCV003061807] |
Chr17:5521529 [GRCh38]
Chr17:5424849 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.3084T>C (p.Asn1028=) |
single nucleotide variant |
not provided [RCV002716913] |
Chr17:5533353 [GRCh38]
Chr17:5436673 [GRCh37]
Chr17:17p13.2 |
likely benign |
| NM_033004.4(NLRP1):c.1052G>T (p.Trp351Leu) |
single nucleotide variant |
not provided [RCV002645916] |
Chr17:5559644 [GRCh38]
Chr17:5462964 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.2251C>A (p.Leu751Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV002747311] |
Chr17:5558445 [GRCh38]
Chr17:5461765 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.499G>A (p.Glu167Lys) |
single nucleotide variant |
not provided [RCV002670938] |
Chr17:5582012 [GRCh38]
Chr17:5485332 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.79C>T (p.Leu27=) |
single nucleotide variant |
not provided [RCV002628738] |
Chr17:5583879 [GRCh38]
Chr17:5487199 [GRCh37]
Chr17:17p13.2 |
likely benign |
| NM_033004.4(NLRP1):c.2069_2070del (p.Phe690fs) |
deletion |
not provided [RCV003028240] |
Chr17:5558626..5558627 [GRCh38]
Chr17:5461946..5461947 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.3511G>C (p.Ala1171Pro) |
single nucleotide variant |
Inborn genetic diseases [RCV002966523]|not provided [RCV002966522] |
Chr17:5530490 [GRCh38]
Chr17:5433810 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.4115C>A (p.Pro1372His) |
single nucleotide variant |
Inborn genetic diseases [RCV002714119] |
Chr17:5515061 [GRCh38]
Chr17:5418381 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.272-13C>G |
single nucleotide variant |
not provided [RCV002577103] |
Chr17:5582859 [GRCh38]
Chr17:5486179 [GRCh37]
Chr17:17p13.2 |
likely benign |
| NM_033004.4(NLRP1):c.125C>T (p.Pro42Leu) |
single nucleotide variant |
not provided [RCV003060673] |
Chr17:5583833 [GRCh38]
Chr17:5487153 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.1126A>G (p.Lys376Glu) |
single nucleotide variant |
Inborn genetic diseases [RCV002806150]|not provided [RCV002806151] |
Chr17:5559570 [GRCh38]
Chr17:5462890 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.664A>G (p.Arg222Gly) |
single nucleotide variant |
not provided [RCV002599930] |
Chr17:5560032 [GRCh38]
Chr17:5463352 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.2916G>T (p.Arg972Ser) |
single nucleotide variant |
not provided [RCV003090584] |
Chr17:5536895 [GRCh38]
Chr17:5440215 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.4312C>T (p.Arg1438Trp) |
single nucleotide variant |
not provided [RCV002627416] |
Chr17:5514864 [GRCh38]
Chr17:5418184 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.3555C>G (p.Ala1185=) |
single nucleotide variant |
not provided [RCV002857177] |
Chr17:5521752 [GRCh38]
Chr17:5425072 [GRCh37]
Chr17:17p13.2 |
likely benign |
| NM_033004.4(NLRP1):c.985A>G (p.Ile329Val) |
single nucleotide variant |
Inborn genetic diseases [RCV003063710]|not provided [RCV003063709] |
Chr17:5559711 [GRCh38]
Chr17:5463031 [GRCh37]
Chr17:17p13.2 |
likely benign|uncertain significance |
| NM_033004.4(NLRP1):c.2591A>G (p.Asn864Ser) |
single nucleotide variant |
not provided [RCV003046916] |
Chr17:5541965 [GRCh38]
Chr17:5445285 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.1032C>T (p.Ala344=) |
single nucleotide variant |
not provided [RCV002627978] |
Chr17:5559664 [GRCh38]
Chr17:5462984 [GRCh37]
Chr17:17p13.2 |
likely benign |
| NM_033004.4(NLRP1):c.3297-20C>A |
single nucleotide variant |
not provided [RCV002671618] |
Chr17:5530724 [GRCh38]
Chr17:5434044 [GRCh37]
Chr17:17p13.2 |
likely benign |
| NM_033004.4(NLRP1):c.3974T>C (p.Val1325Ala) |
single nucleotide variant |
not provided [RCV002650298] |
Chr17:5517829 [GRCh38]
Chr17:5421149 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.652+6A>G |
single nucleotide variant |
not provided [RCV003026917] |
Chr17:5581853 [GRCh38]
Chr17:5485173 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.531C>T (p.Pro177=) |
single nucleotide variant |
not provided [RCV002675496] |
Chr17:5581980 [GRCh38]
Chr17:5485300 [GRCh37]
Chr17:17p13.2 |
likely benign |
| NM_033004.4(NLRP1):c.4416C>G (p.Ser1472Arg) |
single nucleotide variant |
not provided [RCV003031719] |
Chr17:5514760 [GRCh38]
Chr17:5418080 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.1121A>G (p.Gln374Arg) |
single nucleotide variant |
not provided [RCV003044450] |
Chr17:5559575 [GRCh38]
Chr17:5462895 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.4124C>G (p.Ala1375Gly) |
single nucleotide variant |
not provided [RCV002602239] |
Chr17:5515052 [GRCh38]
Chr17:5418372 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.2114C>T (p.Pro705Leu) |
single nucleotide variant |
not provided [RCV002899798] |
Chr17:5558582 [GRCh38]
Chr17:5461902 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.449-3C>A |
single nucleotide variant |
not provided [RCV002650448] |
Chr17:5582065 [GRCh38]
Chr17:5485385 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.2538C>T (p.Gly846=) |
single nucleotide variant |
not provided [RCV003091698] |
Chr17:5542018 [GRCh38]
Chr17:5445338 [GRCh37]
Chr17:17p13.2 |
likely benign |
| NM_033004.4(NLRP1):c.881C>T (p.Pro294Leu) |
single nucleotide variant |
not provided [RCV003091719] |
Chr17:5559815 [GRCh38]
Chr17:5463135 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.1014T>G (p.Ile338Met) |
single nucleotide variant |
not provided [RCV002922850] |
Chr17:5559682 [GRCh38]
Chr17:5463002 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.3336C>A (p.Asn1112Lys) |
single nucleotide variant |
not provided [RCV003045474] |
Chr17:5530665 [GRCh38]
Chr17:5433985 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.2430G>A (p.Leu810=) |
single nucleotide variant |
not provided [RCV002877333] |
Chr17:5553484 [GRCh38]
Chr17:5456804 [GRCh37]
Chr17:17p13.2 |
likely benign |
| NM_033004.4(NLRP1):c.652+1G>A |
single nucleotide variant |
not provided [RCV003087269] |
Chr17:5581858 [GRCh38]
Chr17:5485178 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.2462G>A (p.Ser821Asn) |
single nucleotide variant |
not provided [RCV002963381] |
Chr17:5553452 [GRCh38]
Chr17:5456772 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.3508G>A (p.Val1170Met) |
single nucleotide variant |
not provided [RCV002745943] |
Chr17:5530493 [GRCh38]
Chr17:5433813 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.1268G>A (p.Ser423Asn) |
single nucleotide variant |
Inborn genetic diseases [RCV002941220] |
Chr17:5559428 [GRCh38]
Chr17:5462748 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.3639C>A (p.Ser1213=) |
single nucleotide variant |
not provided [RCV002898635] |
Chr17:5521668 [GRCh38]
Chr17:5424988 [GRCh37]
Chr17:17p13.2 |
likely benign |
| NM_033004.4(NLRP1):c.2648A>G (p.Lys883Arg) |
single nucleotide variant |
not provided [RCV002583668] |
Chr17:5541908 [GRCh38]
Chr17:5445228 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.3373G>A (p.Val1125Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV002678376]|not provided [RCV003730261] |
Chr17:5530628 [GRCh38]
Chr17:5433948 [GRCh37]
Chr17:17p13.2 |
likely benign|uncertain significance |
| NM_033004.4(NLRP1):c.3604C>G (p.Leu1202Val) |
single nucleotide variant |
not provided [RCV002944066] |
Chr17:5521703 [GRCh38]
Chr17:5425023 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.4199T>G (p.Leu1400Trp) |
single nucleotide variant |
not provided [RCV002721739] |
Chr17:5514977 [GRCh38]
Chr17:5418297 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.675_676del (p.Lys226fs) |
microsatellite |
not provided [RCV003067925] |
Chr17:5560020..5560021 [GRCh38]
Chr17:5463340..5463341 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.864C>G (p.His288Gln) |
single nucleotide variant |
not provided [RCV002584580] |
Chr17:5559832 [GRCh38]
Chr17:5463152 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.3568G>A (p.Glu1190Lys) |
single nucleotide variant |
Autoinflammation with arthritis and dyskeratosis [RCV003153114] |
Chr17:5521739 [GRCh38]
Chr17:5425059 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.2675C>T (p.Pro892Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV002725171]|not provided [RCV003778601] |
Chr17:5541881 [GRCh38]
Chr17:5445201 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.2809G>A (p.Val937Ile) |
single nucleotide variant |
not provided [RCV002814256] |
Chr17:5539476 [GRCh38]
Chr17:5442796 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.3521-9C>A |
single nucleotide variant |
not provided [RCV002607357] |
Chr17:5521795 [GRCh38]
Chr17:5425115 [GRCh37]
Chr17:17p13.2 |
likely benign |
| NM_033004.4(NLRP1):c.3134-18G>A |
single nucleotide variant |
not provided [RCV002654069] |
Chr17:5533002 [GRCh38]
Chr17:5436322 [GRCh37]
Chr17:17p13.2 |
likely benign |
| NM_033004.4(NLRP1):c.2037TGA[3] (p.Asp680_Glu681insAsp) |
microsatellite |
not provided [RCV002585888] |
Chr17:5558653..5558654 [GRCh38]
Chr17:5461973..5461974 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.3099C>T (p.Asp1033=) |
single nucleotide variant |
not provided [RCV002583153] |
Chr17:5533338 [GRCh38]
Chr17:5436658 [GRCh37]
Chr17:17p13.2 |
likely benign |
| NM_033004.4(NLRP1):c.1402C>A (p.Pro468Thr) |
single nucleotide variant |
not provided [RCV002606735] |
Chr17:5559294 [GRCh38]
Chr17:5462614 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.3613A>G (p.Ile1205Val) |
single nucleotide variant |
not provided [RCV003070752] |
Chr17:5521694 [GRCh38]
Chr17:5425014 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.343G>A (p.Ala115Thr) |
single nucleotide variant |
not provided [RCV002608668] |
Chr17:5582775 [GRCh38]
Chr17:5486095 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.3837C>G (p.Pro1279=) |
single nucleotide variant |
not provided [RCV002613032] |
Chr17:5520959 [GRCh38]
Chr17:5424279 [GRCh37]
Chr17:17p13.2 |
likely benign |
| NM_033004.4(NLRP1):c.2529-14T>C |
single nucleotide variant |
not provided [RCV002721740] |
Chr17:5542041 [GRCh38]
Chr17:5445361 [GRCh37]
Chr17:17p13.2 |
likely benign |
| NM_033004.4(NLRP1):c.3779G>A (p.Arg1260Gln) |
single nucleotide variant |
Inborn genetic diseases [RCV002943912]|not provided [RCV002943911] |
Chr17:5521528 [GRCh38]
Chr17:5424848 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.3021A>C (p.Thr1007=) |
single nucleotide variant |
not provided [RCV003070067] |
Chr17:5533928 [GRCh38]
Chr17:5437248 [GRCh37]
Chr17:17p13.2 |
likely benign |
| NM_033004.4(NLRP1):c.3520+19T>C |
single nucleotide variant |
not provided [RCV002609883] |
Chr17:5530462 [GRCh38]
Chr17:5433782 [GRCh37]
Chr17:17p13.2 |
likely benign |
| NM_033004.4(NLRP1):c.4302G>T (p.Gln1434His) |
single nucleotide variant |
not provided [RCV002605041] |
Chr17:5514874 [GRCh38]
Chr17:5418194 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.633G>A (p.Thr211=) |
single nucleotide variant |
not provided [RCV002612125] |
Chr17:5581878 [GRCh38]
Chr17:5485198 [GRCh37]
Chr17:17p13.2 |
likely benign |
| NM_033004.4(NLRP1):c.1866T>C (p.Ile622=) |
single nucleotide variant |
not provided [RCV002586076] |
Chr17:5558830 [GRCh38]
Chr17:5462150 [GRCh37]
Chr17:17p13.2 |
likely benign |
| NM_033004.4(NLRP1):c.82C>T (p.Leu28Phe) |
single nucleotide variant |
not provided [RCV002610426] |
Chr17:5583876 [GRCh38]
Chr17:5487196 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.881C>A (p.Pro294His) |
single nucleotide variant |
not provided [RCV003032182] |
Chr17:5559815 [GRCh38]
Chr17:5463135 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.122C>T (p.Thr41Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV003214243] |
Chr17:5583836 [GRCh38]
Chr17:5487156 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.4157G>A (p.Arg1386Gln) |
single nucleotide variant |
Inborn genetic diseases [RCV003211667]|NLRP1-related condition [RCV003900985]|not provided [RCV003730465] |
Chr17:5515019 [GRCh38]
Chr17:5418339 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.1190A>T (p.Gln397Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV003189393] |
Chr17:5559506 [GRCh38]
Chr17:5462826 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.2961-3C>T |
single nucleotide variant |
Respiratory papillomatosis, juvenile recurrent, congenital [RCV003225843] |
Chr17:5533991 [GRCh38]
Chr17:5437311 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.834C>A (p.Phe278Leu) |
single nucleotide variant |
Inborn genetic diseases [RCV003215614] |
Chr17:5559862 [GRCh38]
Chr17:5463182 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.836C>T (p.Thr279Ile) |
single nucleotide variant |
not provided [RCV003322186] |
Chr17:5559860 [GRCh38]
Chr17:5463180 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.2854A>G (p.Lys952Glu) |
single nucleotide variant |
Inborn genetic diseases [RCV003262148] |
Chr17:5539431 [GRCh38]
Chr17:5442751 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| GRCh38/hg38 17p13.3-12(chr17:165730-11404096)x3 |
copy number gain |
Chromosome 17p13.3 duplication syndrome [RCV003327726] |
Chr17:165730..11404096 [GRCh38]
Chr17:17p13.3-12 |
pathogenic |
| NM_033004.4(NLRP1):c.1867C>G (p.His623Asp) |
single nucleotide variant |
not provided [RCV003326953] |
Chr17:5558829 [GRCh38]
Chr17:5462149 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.3217T>G (p.Leu1073Val) |
single nucleotide variant |
Inborn genetic diseases [RCV003358534] |
Chr17:5532901 [GRCh38]
Chr17:5436221 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.1615A>G (p.Lys539Glu) |
single nucleotide variant |
Inborn genetic diseases [RCV003379409] |
Chr17:5559081 [GRCh38]
Chr17:5462401 [GRCh37]
Chr17:17p13.2 |
likely benign |
| NM_033004.4(NLRP1):c.1581C>T (p.Cys527=) |
single nucleotide variant |
not provided [RCV003419593] |
Chr17:5559115 [GRCh38]
Chr17:5462435 [GRCh37]
Chr17:17p13.2 |
likely benign |
| NM_033004.4(NLRP1):c.3626A>T (p.Asn1209Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV003351919] |
Chr17:5521681 [GRCh38]
Chr17:5425001 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.2603C>T (p.Thr868Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV003383880] |
Chr17:5541953 [GRCh38]
Chr17:5445273 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.2617A>G (p.Ser873Gly) |
single nucleotide variant |
Inborn genetic diseases [RCV003369497]|not provided [RCV003565660] |
Chr17:5541939 [GRCh38]
Chr17:5445259 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.3727C>T (p.Pro1243Ser) |
single nucleotide variant |
not provided [RCV003875293] |
Chr17:5521580 [GRCh38]
Chr17:5424900 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NC_000017.11:g.5560039_5560045del |
deletion |
not provided [RCV003543241] |
Chr17:5560036..5560042 [GRCh38]
Chr17:5463356..5463362 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.2729G>A (p.Cys910Tyr) |
single nucleotide variant |
not provided [RCV003571340] |
Chr17:5539556 [GRCh38]
Chr17:5442876 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.9C>T (p.Gly3=) |
single nucleotide variant |
not provided [RCV003874946] |
Chr17:5583949 [GRCh38]
Chr17:5487269 [GRCh37]
Chr17:17p13.2 |
likely benign |
| NM_033004.4(NLRP1):c.3151G>T (p.Val1051Leu) |
single nucleotide variant |
not provided [RCV003874769] |
Chr17:5532967 [GRCh38]
Chr17:5436287 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.546G>A (p.Val182=) |
single nucleotide variant |
not provided [RCV003570670] |
Chr17:5581965 [GRCh38]
Chr17:5485285 [GRCh37]
Chr17:17p13.2 |
likely benign |
| NM_033004.4(NLRP1):c.3894G>A (p.Gly1298=) |
single nucleotide variant |
not provided [RCV003872867] |
Chr17:5520902 [GRCh38]
Chr17:5424222 [GRCh37]
Chr17:17p13.2 |
likely benign |
| NM_033004.4(NLRP1):c.968A>G (p.Asp323Gly) |
single nucleotide variant |
not provided [RCV003880609] |
Chr17:5559728 [GRCh38]
Chr17:5463048 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.380G>A (p.Gly127Glu) |
single nucleotide variant |
not provided [RCV003428084] |
Chr17:5582738 [GRCh38]
Chr17:5486058 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.2206G>A (p.Ala736Thr) |
single nucleotide variant |
NLRP1-related condition [RCV003402487] |
Chr17:5558490 [GRCh38]
Chr17:5461810 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.115G>A (p.Gly39Ser) |
single nucleotide variant |
NLRP1-related condition [RCV003399641] |
Chr17:5583843 [GRCh38]
Chr17:5487163 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.3915+72G>C |
single nucleotide variant |
not specified [RCV003391218] |
Chr17:5520809 [GRCh38]
Chr17:5424129 [GRCh37]
Chr17:17p13.2 |
benign |
| NM_033004.4(NLRP1):c.3784-44C>T |
single nucleotide variant |
not specified [RCV003391219] |
Chr17:5521056 [GRCh38]
Chr17:5424376 [GRCh37]
Chr17:17p13.2 |
benign |
| NM_033004.4(NLRP1):c.3915+159A>G |
single nucleotide variant |
not specified [RCV003397033] |
Chr17:5520722 [GRCh38]
Chr17:5424042 [GRCh37]
Chr17:17p13.2 |
benign |
| NM_033004.4(NLRP1):c.1901C>A (p.Ser634Tyr) |
single nucleotide variant |
not provided [RCV003428082] |
Chr17:5558795 [GRCh38]
Chr17:5462115 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.4057+61A>T |
single nucleotide variant |
not specified [RCV003391221] |
Chr17:5517685 [GRCh38]
Chr17:5421005 [GRCh37]
Chr17:17p13.2 |
benign |
| NM_033004.4(NLRP1):c.4057+60G>T |
single nucleotide variant |
not specified [RCV003391222] |
Chr17:5517686 [GRCh38]
Chr17:5421006 [GRCh37]
Chr17:17p13.2 |
benign |
| NM_033004.4(NLRP1):c.1823G>C (p.Gly608Ala) |
single nucleotide variant |
NLRP1-related condition [RCV003408332] |
Chr17:5558873 [GRCh38]
Chr17:5462193 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.1112A>G (p.Glu371Gly) |
single nucleotide variant |
NLRP1-related condition [RCV003416888] |
Chr17:5559584 [GRCh38]
Chr17:5462904 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.3503dup (p.His1168fs) |
duplication |
not specified [RCV003388426] |
Chr17:5530497..5530498 [GRCh38]
Chr17:5433817..5433818 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.3756G>A (p.Leu1252=) |
single nucleotide variant |
not provided [RCV003413102] |
Chr17:5521551 [GRCh38]
Chr17:5424871 [GRCh37]
Chr17:17p13.2 |
likely benign |
| NM_033004.4(NLRP1):c.2115G>A (p.Pro705=) |
single nucleotide variant |
not provided [RCV003413103] |
Chr17:5558581 [GRCh38]
Chr17:5461901 [GRCh37]
Chr17:17p13.2 |
likely benign |
| NM_033004.4(NLRP1):c.1084C>G (p.Gln362Glu) |
single nucleotide variant |
not provided [RCV003428083] |
Chr17:5559612 [GRCh38]
Chr17:5462932 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.2963A>G (p.Lys988Arg) |
single nucleotide variant |
NLRP1-related condition [RCV003427774]|not provided [RCV003778204] |
Chr17:5533986 [GRCh38]
Chr17:5437306 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.3876GTCTGG[3] (p.Gly1298_Met1299insSerGly) |
microsatellite |
not provided [RCV003696039] |
Chr17:5520908..5520909 [GRCh38]
Chr17:5424228..5424229 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.2587G>A (p.Ala863Thr) |
single nucleotide variant |
not provided [RCV003661269] |
Chr17:5541969 [GRCh38]
Chr17:5445289 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.4403T>A (p.Leu1468His) |
single nucleotide variant |
not provided [RCV003696072] |
Chr17:5514773 [GRCh38]
Chr17:5418093 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.2117C>T (p.Ser706Phe) |
single nucleotide variant |
not provided [RCV003575316] |
Chr17:5558579 [GRCh38]
Chr17:5461899 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.1968G>T (p.Thr656=) |
single nucleotide variant |
not provided [RCV003694466] |
Chr17:5558728 [GRCh38]
Chr17:5462048 [GRCh37]
Chr17:17p13.2 |
likely benign |
| NM_033004.4(NLRP1):c.3588G>A (p.Lys1196=) |
single nucleotide variant |
not provided [RCV003848914] |
Chr17:5521719 [GRCh38]
Chr17:5425039 [GRCh37]
Chr17:17p13.2 |
likely benign |
| NM_033004.4(NLRP1):c.392G>A (p.Gly131Asp) |
single nucleotide variant |
not provided [RCV003575549] |
Chr17:5582726 [GRCh38]
Chr17:5486046 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.2336G>C (p.Trp779Ser) |
single nucleotide variant |
not provided [RCV003696262] |
Chr17:5558360 [GRCh38]
Chr17:5461680 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.996G>T (p.Leu332=) |
single nucleotide variant |
not provided [RCV003831853] |
Chr17:5559700 [GRCh38]
Chr17:5463020 [GRCh37]
Chr17:17p13.2 |
likely benign |
| NM_033004.4(NLRP1):c.648C>T (p.Tyr216=) |
single nucleotide variant |
not provided [RCV003691483] |
Chr17:5581863 [GRCh38]
Chr17:5485183 [GRCh37]
Chr17:17p13.2 |
likely benign |
| NM_033004.4(NLRP1):c.1200T>C (p.Ser400=) |
single nucleotide variant |
not provided [RCV003882021] |
Chr17:5559496 [GRCh38]
Chr17:5462816 [GRCh37]
Chr17:17p13.2 |
likely benign |
| NM_033004.4(NLRP1):c.2871-3C>T |
single nucleotide variant |
not provided [RCV003692645] |
Chr17:5536943 [GRCh38]
Chr17:5440263 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.2046G>A (p.Gly682=) |
single nucleotide variant |
not provided [RCV003831187] |
Chr17:5558650 [GRCh38]
Chr17:5461970 [GRCh37]
Chr17:17p13.2 |
likely benign |
| NM_033004.4(NLRP1):c.1548G>T (p.Leu516=) |
single nucleotide variant |
not provided [RCV003573239] |
Chr17:5559148 [GRCh38]
Chr17:5462468 [GRCh37]
Chr17:17p13.2 |
likely benign |
| NM_033004.4(NLRP1):c.3842T>C (p.Leu1281Pro) |
single nucleotide variant |
not provided [RCV003830075] |
Chr17:5520954 [GRCh38]
Chr17:5424274 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.1077C>A (p.Asp359Glu) |
single nucleotide variant |
not provided [RCV003571966] |
Chr17:5559619 [GRCh38]
Chr17:5462939 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.980C>T (p.Pro327Leu) |
single nucleotide variant |
not provided [RCV003687819] |
Chr17:5559716 [GRCh38]
Chr17:5463036 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.2999C>T (p.Thr1000Met) |
single nucleotide variant |
not provided [RCV003829193] |
Chr17:5533950 [GRCh38]
Chr17:5437270 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.63_77del (p.Lys22_Leu26del) |
deletion |
not provided [RCV003690105] |
Chr17:5583881..5583895 [GRCh38]
Chr17:5487201..5487215 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.294C>T (p.Tyr98=) |
single nucleotide variant |
not provided [RCV003692453] |
Chr17:5582824 [GRCh38]
Chr17:5486144 [GRCh37]
Chr17:17p13.2 |
likely benign |
| NM_033004.4(NLRP1):c.310C>T (p.His104Tyr) |
single nucleotide variant |
not provided [RCV003881847] |
Chr17:5582808 [GRCh38]
Chr17:5486128 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.3280_3283del (p.Glu1094fs) |
deletion |
not provided [RCV003829916] |
Chr17:5532835..5532838 [GRCh38]
Chr17:5436155..5436158 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.28G>T (p.Ala10Ser) |
single nucleotide variant |
not provided [RCV003575182] |
Chr17:5583930 [GRCh38]
Chr17:5487250 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.3111C>G (p.Ile1037Met) |
single nucleotide variant |
not provided [RCV003713800] |
Chr17:5533326 [GRCh38]
Chr17:5436646 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.1022C>T (p.Ser341Leu) |
single nucleotide variant |
not provided [RCV003694572] |
Chr17:5559674 [GRCh38]
Chr17:5462994 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.1164G>A (p.Gly388=) |
single nucleotide variant |
not provided [RCV003692648] |
Chr17:5559532 [GRCh38]
Chr17:5462852 [GRCh37]
Chr17:17p13.2 |
likely benign |
| NM_033004.4(NLRP1):c.448+17C>T |
single nucleotide variant |
not provided [RCV003573925] |
Chr17:5582653 [GRCh38]
Chr17:5485973 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.817G>A (p.Asp273Asn) |
single nucleotide variant |
not provided [RCV003715373] |
Chr17:5559879 [GRCh38]
Chr17:5463199 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.1634A>G (p.Lys545Arg) |
single nucleotide variant |
not provided [RCV003661605] |
Chr17:5559062 [GRCh38]
Chr17:5462382 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.2357+20A>T |
single nucleotide variant |
not provided [RCV003662956] |
Chr17:5558319 [GRCh38]
Chr17:5461639 [GRCh37]
Chr17:17p13.2 |
likely benign |
| NM_033004.4(NLRP1):c.1210C>T (p.Arg404Trp) |
single nucleotide variant |
not provided [RCV003738718] |
Chr17:5559486 [GRCh38]
Chr17:5462806 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.3429C>T (p.His1143=) |
single nucleotide variant |
not provided [RCV003576070] |
Chr17:5530572 [GRCh38]
Chr17:5433892 [GRCh37]
Chr17:17p13.2 |
likely benign |
| NM_033004.4(NLRP1):c.1451C>T (p.Ser484Phe) |
single nucleotide variant |
not provided [RCV003825030] |
Chr17:5559245 [GRCh38]
Chr17:5462565 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.2080C>G (p.Leu694Val) |
single nucleotide variant |
not provided [RCV003688026] |
Chr17:5558616 [GRCh38]
Chr17:5461936 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.1490A>G (p.Glu497Gly) |
single nucleotide variant |
not provided [RCV003688053] |
Chr17:5559206 [GRCh38]
Chr17:5462526 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.1350C>A (p.Pro450=) |
single nucleotide variant |
not provided [RCV003829658] |
Chr17:5559346 [GRCh38]
Chr17:5462666 [GRCh37]
Chr17:17p13.2 |
likely benign |
| NM_033004.4(NLRP1):c.1011A>G (p.Gly337=) |
single nucleotide variant |
not provided [RCV003713997] |
Chr17:5559685 [GRCh38]
Chr17:5463005 [GRCh37]
Chr17:17p13.2 |
likely benign |
| NM_033004.4(NLRP1):c.15_16insCCGGAGCC (p.Trp6fs) |
insertion |
not provided [RCV003575985] |
Chr17:5583942..5583943 [GRCh38]
Chr17:5487262..5487263 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.1039G>A (p.Val347Met) |
single nucleotide variant |
not provided [RCV003713438] |
Chr17:5559657 [GRCh38]
Chr17:5462977 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.2529-20T>C |
single nucleotide variant |
not provided [RCV003576755] |
Chr17:5542047 [GRCh38]
Chr17:5445367 [GRCh37]
Chr17:17p13.2 |
likely benign |
| NM_033004.4(NLRP1):c.3935G>A (p.Arg1312Gln) |
single nucleotide variant |
not provided [RCV003882050] |
Chr17:5517868 [GRCh38]
Chr17:5421188 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.1573C>T (p.Leu525=) |
single nucleotide variant |
not provided [RCV003715025] |
Chr17:5559123 [GRCh38]
Chr17:5462443 [GRCh37]
Chr17:17p13.2 |
likely benign |
| NM_033004.4(NLRP1):c.55GAG[1] (p.Glu20del) |
microsatellite |
not provided [RCV003829922] |
Chr17:5583898..5583900 [GRCh38]
Chr17:5487218..5487220 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.96G>A (p.Ala32=) |
single nucleotide variant |
not provided [RCV003827686] |
Chr17:5583862 [GRCh38]
Chr17:5487182 [GRCh37]
Chr17:17p13.2 |
likely benign |
| NM_033004.4(NLRP1):c.2666T>G (p.Leu889Arg) |
single nucleotide variant |
not provided [RCV003689653] |
Chr17:5541890 [GRCh38]
Chr17:5445210 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.448+7C>T |
single nucleotide variant |
not provided [RCV003829903] |
Chr17:5582663 [GRCh38]
Chr17:5485983 [GRCh37]
Chr17:17p13.2 |
likely benign |
| NM_033004.4(NLRP1):c.3199G>A (p.Asp1067Asn) |
single nucleotide variant |
not provided [RCV003574343] |
Chr17:5532919 [GRCh38]
Chr17:5436239 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.2871-20G>T |
single nucleotide variant |
not provided [RCV003691900] |
Chr17:5536960 [GRCh38]
Chr17:5440280 [GRCh37]
Chr17:17p13.2 |
likely benign |
| NM_033004.4(NLRP1):c.3283A>G (p.Lys1095Glu) |
single nucleotide variant |
not provided [RCV003715259] |
Chr17:5532835 [GRCh38]
Chr17:5436155 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.900G>C (p.Trp300Cys) |
single nucleotide variant |
not provided [RCV003739612] |
Chr17:5559796 [GRCh38]
Chr17:5463116 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.846A>G (p.Leu282=) |
single nucleotide variant |
not provided [RCV003713045] |
Chr17:5559850 [GRCh38]
Chr17:5463170 [GRCh37]
Chr17:17p13.2 |
likely benign |
| NM_033004.4(NLRP1):c.3865C>G (p.Arg1289Gly) |
single nucleotide variant |
not provided [RCV003696057] |
Chr17:5520931 [GRCh38]
Chr17:5424251 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.3133+1G>T |
single nucleotide variant |
not provided [RCV003713215] |
Chr17:5533303 [GRCh38]
Chr17:5436623 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.2358-8C>G |
single nucleotide variant |
not provided [RCV003574434] |
Chr17:5553564 [GRCh38]
Chr17:5456884 [GRCh37]
Chr17:17p13.2 |
likely benign |
| NM_033004.4(NLRP1):c.221G>T (p.Trp74Leu) |
single nucleotide variant |
not provided [RCV003714799] |
Chr17:5583737 [GRCh38]
Chr17:5487057 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.2997T>C (p.Asp999=) |
single nucleotide variant |
not provided [RCV003881594] |
Chr17:5533952 [GRCh38]
Chr17:5437272 [GRCh37]
Chr17:17p13.2 |
likely benign |
| NM_033004.4(NLRP1):c.900G>T (p.Trp300Cys) |
single nucleotide variant |
not provided [RCV003687171] |
Chr17:5559796 [GRCh38]
Chr17:5463116 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.879T>C (p.Asp293=) |
single nucleotide variant |
not provided [RCV003882156] |
Chr17:5559817 [GRCh38]
Chr17:5463137 [GRCh37]
Chr17:17p13.2 |
likely benign |
| NM_033004.4(NLRP1):c.486C>T (p.Ser162=) |
single nucleotide variant |
not provided [RCV003693297] |
Chr17:5582025 [GRCh38]
Chr17:5485345 [GRCh37]
Chr17:17p13.2 |
likely benign |
| NM_033004.4(NLRP1):c.3730G>A (p.Glu1244Lys) |
single nucleotide variant |
not provided [RCV003692161] |
Chr17:5521577 [GRCh38]
Chr17:5424897 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.2358-2A>C |
single nucleotide variant |
not provided [RCV003659804] |
Chr17:5553558 [GRCh38]
Chr17:5456878 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.3288C>G (p.Asn1096Lys) |
single nucleotide variant |
not provided [RCV003573775] |
Chr17:5532830 [GRCh38]
Chr17:5436150 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.2936C>T (p.Pro979Leu) |
single nucleotide variant |
not provided [RCV003697605] |
Chr17:5536875 [GRCh38]
Chr17:5440195 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.1794G>T (p.Gly598=) |
single nucleotide variant |
not provided [RCV003811135] |
Chr17:5558902 [GRCh38]
Chr17:5462222 [GRCh37]
Chr17:17p13.2 |
likely benign |
| NM_033004.4(NLRP1):c.1968G>A (p.Thr656=) |
single nucleotide variant |
NLRP1-related condition [RCV003893433]|not provided [RCV003811863] |
Chr17:5558728 [GRCh38]
Chr17:5462048 [GRCh37]
Chr17:17p13.2 |
likely benign |
| NM_033004.4(NLRP1):c.4421G>A (p.Ter1474=) |
single nucleotide variant |
not provided [RCV003834895] |
Chr17:5514755 [GRCh38]
Chr17:5418075 [GRCh37]
Chr17:17p13.2 |
likely benign |
| NM_033004.4(NLRP1):c.1370C>T (p.Thr457Met) |
single nucleotide variant |
not provided [RCV003851432] |
Chr17:5559326 [GRCh38]
Chr17:5462646 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.4262C>T (p.Thr1421Met) |
single nucleotide variant |
not provided [RCV003833077] |
Chr17:5514914 [GRCh38]
Chr17:5418234 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.895A>C (p.Ser299Arg) |
single nucleotide variant |
not provided [RCV003550106] |
Chr17:5559801 [GRCh38]
Chr17:5463121 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.2358-3C>G |
single nucleotide variant |
not provided [RCV003548234] |
Chr17:5553559 [GRCh38]
Chr17:5456879 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.1296G>A (p.Gln432=) |
single nucleotide variant |
not provided [RCV003549272] |
Chr17:5559400 [GRCh38]
Chr17:5462720 [GRCh37]
Chr17:17p13.2 |
likely benign |
| NM_033004.4(NLRP1):c.206_209dup (p.Leu71fs) |
duplication |
not provided [RCV003580982] |
Chr17:5583748..5583749 [GRCh38]
Chr17:5487068..5487069 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.3835C>G (p.Pro1279Ala) |
single nucleotide variant |
not provided [RCV003666390] |
Chr17:5520961 [GRCh38]
Chr17:5424281 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.4166T>A (p.Leu1389Gln) |
single nucleotide variant |
not provided [RCV003832478] |
Chr17:5515010 [GRCh38]
Chr17:5418330 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.2002G>T (p.Ala668Ser) |
single nucleotide variant |
not provided [RCV003698424] |
Chr17:5558694 [GRCh38]
Chr17:5462014 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.1218C>T (p.Leu406=) |
single nucleotide variant |
not provided [RCV003834619] |
Chr17:5559478 [GRCh38]
Chr17:5462798 [GRCh37]
Chr17:17p13.2 |
likely benign |
| NM_033004.4(NLRP1):c.4156C>T (p.Arg1386Ter) |
single nucleotide variant |
not provided [RCV003836783] |
Chr17:5515020 [GRCh38]
Chr17:5418340 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.4279C>A (p.Arg1427=) |
single nucleotide variant |
not provided [RCV003696877] |
Chr17:5514897 [GRCh38]
Chr17:5418217 [GRCh37]
Chr17:17p13.2 |
likely benign |
| NM_033004.4(NLRP1):c.2075G>A (p.Cys692Tyr) |
single nucleotide variant |
not provided [RCV003669538] |
Chr17:5558621 [GRCh38]
Chr17:5461941 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.1903T>C (p.Tyr635His) |
single nucleotide variant |
not provided [RCV003851446] |
Chr17:5558793 [GRCh38]
Chr17:5462113 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.3053-11T>G |
single nucleotide variant |
not provided [RCV003811549] |
Chr17:5533395 [GRCh38]
Chr17:5436715 [GRCh37]
Chr17:17p13.2 |
likely benign |
| NM_033004.4(NLRP1):c.3367G>A (p.Val1123Met) |
single nucleotide variant |
not provided [RCV003717014] |
Chr17:5530634 [GRCh38]
Chr17:5433954 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.3913A>C (p.Lys1305Gln) |
single nucleotide variant |
not provided [RCV003724851] |
Chr17:5520883 [GRCh38]
Chr17:5424203 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.22C>T (p.Arg8Cys) |
single nucleotide variant |
not provided [RCV003670393] |
Chr17:5583936 [GRCh38]
Chr17:5487256 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.1468T>G (p.Phe490Val) |
single nucleotide variant |
not provided [RCV003850088] |
Chr17:5559228 [GRCh38]
Chr17:5462548 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.1308G>A (p.Ala436=) |
single nucleotide variant |
not provided [RCV003852212] |
Chr17:5559388 [GRCh38]
Chr17:5462708 [GRCh37]
Chr17:17p13.2 |
likely benign |
| NM_033004.4(NLRP1):c.121A>G (p.Thr41Ala) |
single nucleotide variant |
not provided [RCV003698127] |
Chr17:5583837 [GRCh38]
Chr17:5487157 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.3821G>A (p.Arg1274Gln) |
single nucleotide variant |
not provided [RCV003811134] |
Chr17:5520975 [GRCh38]
Chr17:5424295 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.3642C>T (p.Pro1214=) |
single nucleotide variant |
not provided [RCV003703412] |
Chr17:5521665 [GRCh38]
Chr17:5424985 [GRCh37]
Chr17:17p13.2 |
likely benign |
| NM_033004.4(NLRP1):c.127G>A (p.Ala43Thr) |
single nucleotide variant |
not provided [RCV003580046] |
Chr17:5583831 [GRCh38]
Chr17:5487151 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.2899A>T (p.Met967Leu) |
single nucleotide variant |
not provided [RCV003851284] |
Chr17:5536912 [GRCh38]
Chr17:5440232 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.2903G>A (p.Arg968Lys) |
single nucleotide variant |
not provided [RCV003667157] |
Chr17:5536908 [GRCh38]
Chr17:5440228 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.2729G>T (p.Cys910Phe) |
single nucleotide variant |
not provided [RCV003668827] |
Chr17:5539556 [GRCh38]
Chr17:5442876 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.2699+19C>G |
single nucleotide variant |
not provided [RCV003672902] |
Chr17:5541838 [GRCh38]
Chr17:5445158 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.333C>T (p.Pro111=) |
single nucleotide variant |
not provided [RCV003855509] |
Chr17:5582785 [GRCh38]
Chr17:5486105 [GRCh37]
Chr17:17p13.2 |
likely benign |
| NM_033004.4(NLRP1):c.3783+17G>C |
single nucleotide variant |
not provided [RCV003839269] |
Chr17:5521507 [GRCh38]
Chr17:5424827 [GRCh37]
Chr17:17p13.2 |
likely benign |
| NM_033004.4(NLRP1):c.2911C>T (p.Leu971=) |
single nucleotide variant |
not provided [RCV003724083] |
Chr17:5536900 [GRCh38]
Chr17:5440220 [GRCh37]
Chr17:17p13.2 |
likely benign |
| NM_033004.4(NLRP1):c.2307G>A (p.Leu769=) |
single nucleotide variant |
not provided [RCV003697346] |
Chr17:5558389 [GRCh38]
Chr17:5461709 [GRCh37]
Chr17:17p13.2 |
likely benign |
| NM_033004.4(NLRP1):c.3052+19G>T |
single nucleotide variant |
not provided [RCV003673368] |
Chr17:5533878 [GRCh38]
Chr17:5437198 [GRCh37]
Chr17:17p13.2 |
likely benign |
| NM_033004.4(NLRP1):c.128C>G (p.Ala43Gly) |
single nucleotide variant |
not provided [RCV003702758] |
Chr17:5583830 [GRCh38]
Chr17:5487150 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.2870+13G>A |
single nucleotide variant |
not provided [RCV003669466] |
Chr17:5539402 [GRCh38]
Chr17:5442722 [GRCh37]
Chr17:17p13.2 |
likely benign |
| NM_033004.4(NLRP1):c.2668A>C (p.Arg890=) |
single nucleotide variant |
not provided [RCV003837903] |
Chr17:5541888 [GRCh38]
Chr17:5445208 [GRCh37]
Chr17:17p13.2 |
likely benign |
| NM_033004.4(NLRP1):c.1356A>G (p.Ala452=) |
single nucleotide variant |
not provided [RCV003723490] |
Chr17:5559340 [GRCh38]
Chr17:5462660 [GRCh37]
Chr17:17p13.2 |
likely benign |
| NM_033004.4(NLRP1):c.4174C>T (p.Arg1392Ter) |
single nucleotide variant |
not provided [RCV003558899] |
Chr17:5515002 [GRCh38]
Chr17:5418322 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.4015A>G (p.Lys1339Glu) |
single nucleotide variant |
not provided [RCV003668236] |
Chr17:5517788 [GRCh38]
Chr17:5421108 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.2126T>A (p.Leu709Gln) |
single nucleotide variant |
not provided [RCV003667331] |
Chr17:5558570 [GRCh38]
Chr17:5461890 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.261G>C (p.Gln87His) |
single nucleotide variant |
not provided [RCV003700714] |
Chr17:5583697 [GRCh38]
Chr17:5487017 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.3366G>T (p.Ala1122=) |
single nucleotide variant |
not provided [RCV003668052] |
Chr17:5530635 [GRCh38]
Chr17:5433955 [GRCh37]
Chr17:17p13.2 |
likely benign |
| NM_033004.4(NLRP1):c.2358-13C>G |
single nucleotide variant |
not provided [RCV003816103] |
Chr17:5553569 [GRCh38]
Chr17:5456889 [GRCh37]
Chr17:17p13.2 |
likely benign |
| NM_033004.4(NLRP1):c.1530C>G (p.Asn510Lys) |
single nucleotide variant |
not provided [RCV003834884] |
Chr17:5559166 [GRCh38]
Chr17:5462486 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.85G>A (p.Ala29Thr) |
single nucleotide variant |
not provided [RCV003559725] |
Chr17:5583873 [GRCh38]
Chr17:5487193 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.3058G>T (p.Ala1020Ser) |
single nucleotide variant |
not provided [RCV003837087] |
Chr17:5533379 [GRCh38]
Chr17:5436699 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.2457G>A (p.Ser819=) |
single nucleotide variant |
not provided [RCV003838196] |
Chr17:5553457 [GRCh38]
Chr17:5456777 [GRCh37]
Chr17:17p13.2 |
likely benign |
| NM_033004.4(NLRP1):c.3962C>T (p.Ser1321Leu) |
single nucleotide variant |
not provided [RCV003672914] |
Chr17:5517841 [GRCh38]
Chr17:5421161 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.374CGG[3] (p.Ala126_Gly127insAla) |
microsatellite |
not provided [RCV003549273] |
Chr17:5582738..5582739 [GRCh38]
Chr17:5486058..5486059 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.2436G>A (p.Glu812=) |
single nucleotide variant |
not provided [RCV003580894] |
Chr17:5553478 [GRCh38]
Chr17:5456798 [GRCh37]
Chr17:17p13.2 |
likely benign |
| NM_033004.4(NLRP1):c.3839C>T (p.Pro1280Leu) |
single nucleotide variant |
not provided [RCV003835827] |
Chr17:5520957 [GRCh38]
Chr17:5424277 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.1377G>A (p.Arg459=) |
single nucleotide variant |
not provided [RCV003671073] |
Chr17:5559319 [GRCh38]
Chr17:5462639 [GRCh37]
Chr17:17p13.2 |
likely benign |
| NM_033004.4(NLRP1):c.3499C>T (p.Pro1167Ser) |
single nucleotide variant |
not provided [RCV003671934] |
Chr17:5530502 [GRCh38]
Chr17:5433822 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.36C>T (p.Tyr12=) |
single nucleotide variant |
not provided [RCV003668690] |
Chr17:5583922 [GRCh38]
Chr17:5487242 [GRCh37]
Chr17:17p13.2 |
likely benign |
| NM_033004.4(NLRP1):c.1065G>A (p.Gln355=) |
single nucleotide variant |
not provided [RCV003668813] |
Chr17:5559631 [GRCh38]
Chr17:5462951 [GRCh37]
Chr17:17p13.2 |
likely benign |
| NM_033004.4(NLRP1):c.1152C>T (p.Ile384=) |
single nucleotide variant |
not provided [RCV003698033] |
Chr17:5559544 [GRCh38]
Chr17:5462864 [GRCh37]
Chr17:17p13.2 |
likely benign |
| NM_033004.4(NLRP1):c.2961-16A>T |
single nucleotide variant |
not provided [RCV003724044] |
Chr17:5534004 [GRCh38]
Chr17:5437324 [GRCh37]
Chr17:17p13.2 |
likely benign |
| NM_033004.4(NLRP1):c.730G>A (p.Ala244Thr) |
single nucleotide variant |
not provided [RCV003666671] |
Chr17:5559966 [GRCh38]
Chr17:5463286 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.4102+17A>G |
single nucleotide variant |
not provided [RCV003698526] |
Chr17:5515456 [GRCh38]
Chr17:5418776 [GRCh37]
Chr17:17p13.2 |
likely benign |
| NM_033004.4(NLRP1):c.2326A>G (p.Arg776Gly) |
single nucleotide variant |
not provided [RCV003716692] |
Chr17:5558370 [GRCh38]
Chr17:5461690 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.3946G>A (p.Glu1316Lys) |
single nucleotide variant |
not provided [RCV003707122] |
Chr17:5517857 [GRCh38]
Chr17:5421177 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.1329G>T (p.Leu443Phe) |
single nucleotide variant |
not provided [RCV003566699] |
Chr17:5559367 [GRCh38]
Chr17:5462687 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.3487G>A (p.Ala1163Thr) |
single nucleotide variant |
not provided [RCV003568726] |
Chr17:5530514 [GRCh38]
Chr17:5433834 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.2700-17G>A |
single nucleotide variant |
not provided [RCV003821868] |
Chr17:5539602 [GRCh38]
Chr17:5442922 [GRCh37]
Chr17:17p13.2 |
likely benign |
| NM_033004.4(NLRP1):c.2349G>C (p.Met783Ile) |
single nucleotide variant |
not provided [RCV003678059] |
Chr17:5558347 [GRCh38]
Chr17:5461667 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.449-12C>A |
single nucleotide variant |
not provided [RCV003567432] |
Chr17:5582074 [GRCh38]
Chr17:5485394 [GRCh37]
Chr17:17p13.2 |
likely benign |
| NM_033004.4(NLRP1):c.3044T>C (p.Leu1015Pro) |
single nucleotide variant |
not provided [RCV003675818] |
Chr17:5533905 [GRCh38]
Chr17:5437225 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.52A>T (p.Lys18Ter) |
single nucleotide variant |
not provided [RCV003860749] |
Chr17:5583906 [GRCh38]
Chr17:5487226 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.3134-18G>C |
single nucleotide variant |
not provided [RCV003711064] |
Chr17:5533002 [GRCh38]
Chr17:5436322 [GRCh37]
Chr17:17p13.2 |
likely benign |
| NM_033004.4(NLRP1):c.3846C>T (p.Thr1282=) |
single nucleotide variant |
not provided [RCV003683127] |
Chr17:5520950 [GRCh38]
Chr17:5424270 [GRCh37]
Chr17:17p13.2 |
likely benign |
| NM_033004.4(NLRP1):c.1058G>C (p.Arg353Thr) |
single nucleotide variant |
not provided [RCV003709368] |
Chr17:5559638 [GRCh38]
Chr17:5462958 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.1818G>A (p.Lys606=) |
single nucleotide variant |
NLRP1-related condition [RCV003981162]|not provided [RCV003841090] |
Chr17:5558878 [GRCh38]
Chr17:5462198 [GRCh37]
Chr17:17p13.2 |
likely benign |
| NM_033004.4(NLRP1):c.3882G>A (p.Gly1294=) |
single nucleotide variant |
not provided [RCV003705459] |
Chr17:5520914 [GRCh38]
Chr17:5424234 [GRCh37]
Chr17:17p13.2 |
likely benign |
| NM_033004.4(NLRP1):c.602C>T (p.Ala201Val) |
single nucleotide variant |
not provided [RCV003553232] |
Chr17:5581909 [GRCh38]
Chr17:5485229 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.2358-5C>G |
single nucleotide variant |
not provided [RCV003733785] |
Chr17:5553561 [GRCh38]
Chr17:5456881 [GRCh37]
Chr17:17p13.2 |
likely benign |
| NM_033004.4(NLRP1):c.1877T>C (p.Phe626Ser) |
single nucleotide variant |
not provided [RCV003706878] |
Chr17:5558819 [GRCh38]
Chr17:5462139 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.2529-5del |
deletion |
not provided [RCV003729461] |
Chr17:5542032 [GRCh38]
Chr17:5445352 [GRCh37]
Chr17:17p13.2 |
likely benign |
| NM_033004.4(NLRP1):c.1013T>C (p.Ile338Thr) |
single nucleotide variant |
not provided [RCV003682113] |
Chr17:5559683 [GRCh38]
Chr17:5463003 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.975A>G (p.Gln325=) |
single nucleotide variant |
not provided [RCV003682815] |
Chr17:5559721 [GRCh38]
Chr17:5463041 [GRCh37]
Chr17:17p13.2 |
likely benign |
| NM_033004.4(NLRP1):c.762A>G (p.Pro254=) |
single nucleotide variant |
not provided [RCV003862110] |
Chr17:5559934 [GRCh38]
Chr17:5463254 [GRCh37]
Chr17:17p13.2 |
likely benign |
| NM_033004.4(NLRP1):c.1840C>T (p.Pro614Ser) |
single nucleotide variant |
not provided [RCV003568104] |
Chr17:5558856 [GRCh38]
Chr17:5462176 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.3306C>G (p.Phe1102Leu) |
single nucleotide variant |
not provided [RCV003853715] |
Chr17:5530695 [GRCh38]
Chr17:5434015 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.1275G>A (p.Glu425=) |
single nucleotide variant |
not provided [RCV003736279] |
Chr17:5559421 [GRCh38]
Chr17:5462741 [GRCh37]
Chr17:17p13.2 |
likely benign |
| NM_033004.4(NLRP1):c.1020G>A (p.Lys340=) |
single nucleotide variant |
not provided [RCV003678945] |
Chr17:5559676 [GRCh38]
Chr17:5462996 [GRCh37]
Chr17:17p13.2 |
likely benign |
| NM_033004.4(NLRP1):c.4102+20G>T |
single nucleotide variant |
not provided [RCV003680287] |
Chr17:5515453 [GRCh38]
Chr17:5418773 [GRCh37]
Chr17:17p13.2 |
likely benign |
| NM_033004.4(NLRP1):c.926G>C (p.Gly309Ala) |
single nucleotide variant |
not provided [RCV003707328] |
Chr17:5559770 [GRCh38]
Chr17:5463090 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.2795del (p.Asn932fs) |
deletion |
not provided [RCV003550761] |
Chr17:5539490 [GRCh38]
Chr17:5442810 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.1228G>C (p.Asp410His) |
single nucleotide variant |
not provided [RCV003680428] |
Chr17:5559468 [GRCh38]
Chr17:5462788 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.3296+19C>A |
single nucleotide variant |
not provided [RCV003853115] |
Chr17:5532803 [GRCh38]
Chr17:5436123 [GRCh37]
Chr17:17p13.2 |
likely benign |
| NM_033004.4(NLRP1):c.272-4G>C |
single nucleotide variant |
not provided [RCV003712305] |
Chr17:5582850 [GRCh38]
Chr17:5486170 [GRCh37]
Chr17:17p13.2 |
likely benign |
| NM_033004.4(NLRP1):c.3207T>A (p.His1069Gln) |
single nucleotide variant |
not provided [RCV003675804] |
Chr17:5532911 [GRCh38]
Chr17:5436231 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.3045C>T (p.Leu1015=) |
single nucleotide variant |
not provided [RCV003710164] |
Chr17:5533904 [GRCh38]
Chr17:5437224 [GRCh37]
Chr17:17p13.2 |
likely benign |
| NM_033004.4(NLRP1):c.1671G>A (p.Gln557=) |
single nucleotide variant |
not provided [RCV003734759] |
Chr17:5559025 [GRCh38]
Chr17:5462345 [GRCh37]
Chr17:17p13.2 |
likely benign |
| NM_033004.4(NLRP1):c.1097A>G (p.Tyr366Cys) |
single nucleotide variant |
not provided [RCV003682086] |
Chr17:5559599 [GRCh38]
Chr17:5462919 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.2715C>A (p.Gly905=) |
single nucleotide variant |
not provided [RCV003867392] |
Chr17:5539570 [GRCh38]
Chr17:5442890 [GRCh37]
Chr17:17p13.2 |
likely benign |
| NM_033004.4(NLRP1):c.527C>T (p.Ala176Val) |
single nucleotide variant |
not provided [RCV003685313] |
Chr17:5581984 [GRCh38]
Chr17:5485304 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.4280G>C (p.Arg1427Pro) |
single nucleotide variant |
not provided [RCV003568167] |
Chr17:5514896 [GRCh38]
Chr17:5418216 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.377C>T (p.Ala126Val) |
single nucleotide variant |
not provided [RCV003722362] |
Chr17:5582741 [GRCh38]
Chr17:5486061 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.3594C>A (p.Ala1198=) |
single nucleotide variant |
not provided [RCV003870964] |
Chr17:5521713 [GRCh38]
Chr17:5425033 [GRCh37]
Chr17:17p13.2 |
likely benign |
| NM_033004.4(NLRP1):c.2329T>C (p.Ser777Pro) |
single nucleotide variant |
not provided [RCV003670693] |
Chr17:5558367 [GRCh38]
Chr17:5461687 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.1420C>A (p.Arg474Ser) |
single nucleotide variant |
not provided [RCV003680776] |
Chr17:5559276 [GRCh38]
Chr17:5462596 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.630A>G (p.Glu210=) |
single nucleotide variant |
not provided [RCV003684290] |
Chr17:5581881 [GRCh38]
Chr17:5485201 [GRCh37]
Chr17:17p13.2 |
likely benign |
| NM_033004.4(NLRP1):c.1929A>G (p.Arg643=) |
single nucleotide variant |
not provided [RCV003737142] |
Chr17:5558767 [GRCh38]
Chr17:5462087 [GRCh37]
Chr17:17p13.2 |
likely benign |
| NM_033004.4(NLRP1):c.733C>T (p.His245Tyr) |
single nucleotide variant |
not provided [RCV003737307] |
Chr17:5559963 [GRCh38]
Chr17:5463283 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.705A>C (p.Ala235=) |
single nucleotide variant |
not provided [RCV003710570] |
Chr17:5559991 [GRCh38]
Chr17:5463311 [GRCh37]
Chr17:17p13.2 |
likely benign |
| NM_033004.4(NLRP1):c.3133G>A (p.Glu1045Lys) |
single nucleotide variant |
not provided [RCV003870021] |
Chr17:5533304 [GRCh38]
Chr17:5436624 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.266G>A (p.Gly89Glu) |
single nucleotide variant |
not provided [RCV003734473] |
Chr17:5583692 [GRCh38]
Chr17:5487012 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.2434G>A (p.Glu812Lys) |
single nucleotide variant |
not provided [RCV003567712] |
Chr17:5553480 [GRCh38]
Chr17:5456800 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.653-3T>A |
single nucleotide variant |
not provided [RCV003721864] |
Chr17:5560046 [GRCh38]
Chr17:5463366 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.3520G>A (p.Gly1174Arg) |
single nucleotide variant |
not provided [RCV003857848] |
Chr17:5530481 [GRCh38]
Chr17:5433801 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.2032T>G (p.Leu678Val) |
single nucleotide variant |
not provided [RCV003683743] |
Chr17:5558664 [GRCh38]
Chr17:5461984 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.3055A>C (p.Arg1019=) |
single nucleotide variant |
not provided [RCV003683752] |
Chr17:5533382 [GRCh38]
Chr17:5436702 [GRCh37]
Chr17:17p13.2 |
likely benign |
| NM_033004.4(NLRP1):c.3214C>A (p.Pro1072Thr) |
single nucleotide variant |
not provided [RCV003719827] |
Chr17:5532904 [GRCh38]
Chr17:5436224 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.4358C>T (p.Pro1453Leu) |
single nucleotide variant |
not provided [RCV003685985] |
Chr17:5514818 [GRCh38]
Chr17:5418138 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.2996A>G (p.Asp999Gly) |
single nucleotide variant |
not provided [RCV003871024] |
Chr17:5533953 [GRCh38]
Chr17:5437273 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.2952C>A (p.Phe984Leu) |
single nucleotide variant |
not provided [RCV003683898] |
Chr17:5536859 [GRCh38]
Chr17:5440179 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.2347A>G (p.Met783Val) |
single nucleotide variant |
not provided [RCV003868523] |
Chr17:5558349 [GRCh38]
Chr17:5461669 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.2529-19G>T |
single nucleotide variant |
not provided [RCV003721350] |
Chr17:5542046 [GRCh38]
Chr17:5445366 [GRCh37]
Chr17:17p13.2 |
likely benign |
| NM_033004.4(NLRP1):c.1227C>T (p.Leu409=) |
single nucleotide variant |
not provided [RCV003861255] |
Chr17:5559469 [GRCh38]
Chr17:5462789 [GRCh37]
Chr17:17p13.2 |
likely benign |
| NM_033004.4(NLRP1):c.2070T>C (p.Phe690=) |
single nucleotide variant |
not provided [RCV003685001] |
Chr17:5558626 [GRCh38]
Chr17:5461946 [GRCh37]
Chr17:17p13.2 |
likely benign |
| GRCh37/hg19 17p13.3-13.2(chr17:9474-6017500)x1 |
copy number loss |
not specified [RCV003987214] |
Chr17:9474..6017500 [GRCh37]
Chr17:17p13.3-13.2 |
pathogenic |
| NM_033004.4(NLRP1):c.3619C>G (p.Leu1207Val) |
single nucleotide variant |
not provided [RCV003859846] |
Chr17:5521688 [GRCh38]
Chr17:5425008 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.2096A>G (p.Asn699Ser) |
single nucleotide variant |
not provided [RCV003568494] |
Chr17:5558600 [GRCh38]
Chr17:5461920 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.4102+8A>G |
single nucleotide variant |
not provided [RCV003853231] |
Chr17:5515465 [GRCh38]
Chr17:5418785 [GRCh37]
Chr17:17p13.2 |
likely benign |
| NM_033004.4(NLRP1):c.3664A>T (p.Ile1222Phe) |
single nucleotide variant |
not provided [RCV003685249] |
Chr17:5521643 [GRCh38]
Chr17:5424963 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| GRCh37/hg19 17p13.3-11.2(chr17:525-21510992)x3 |
copy number gain |
not specified [RCV003987215] |
Chr17:525..21510992 [GRCh37]
Chr17:17p13.3-11.2 |
pathogenic |
| NM_033004.4(NLRP1):c.2510G>A (p.Cys837Tyr) |
single nucleotide variant |
not provided [RCV003684321] |
Chr17:5553404 [GRCh38]
Chr17:5456724 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.1278C>G (p.Leu426=) |
single nucleotide variant |
not provided [RCV003733717] |
Chr17:5559418 [GRCh38]
Chr17:5462738 [GRCh37]
Chr17:17p13.2 |
likely benign |
| NM_033004.4(NLRP1):c.2699+14G>T |
single nucleotide variant |
not provided [RCV003867631] |
Chr17:5541843 [GRCh38]
Chr17:5445163 [GRCh37]
Chr17:17p13.2 |
likely benign |
| NM_033004.4(NLRP1):c.732G>T (p.Ala244=) |
single nucleotide variant |
not provided [RCV003869850] |
Chr17:5559964 [GRCh38]
Chr17:5463284 [GRCh37]
Chr17:17p13.2 |
likely benign |
| NM_033004.4(NLRP1):c.2086C>T (p.Gln696Ter) |
single nucleotide variant |
not provided [RCV003722185] |
Chr17:5558610 [GRCh38]
Chr17:5461930 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.3747C>T (p.His1249=) |
single nucleotide variant |
not provided [RCV003712516] |
Chr17:5521560 [GRCh38]
Chr17:5424880 [GRCh37]
Chr17:17p13.2 |
likely benign |
| NM_033004.4(NLRP1):c.334del (p.Thr112fs) |
deletion |
not provided [RCV003685661] |
Chr17:5582784 [GRCh38]
Chr17:5486104 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| GRCh37/hg19 17p13.2(chr17:5308495-5619495)x3 |
copy number gain |
not specified [RCV003987232] |
Chr17:5308495..5619495 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.872G>A (p.Ser291Asn) |
single nucleotide variant |
not provided [RCV003823675] |
Chr17:5559824 [GRCh38]
Chr17:5463144 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.3059C>A (p.Ala1020Glu) |
single nucleotide variant |
not provided [RCV003683629] |
Chr17:5533378 [GRCh38]
Chr17:5436698 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.1590G>A (p.Leu530=) |
single nucleotide variant |
not provided [RCV003862537] |
Chr17:5559106 [GRCh38]
Chr17:5462426 [GRCh37]
Chr17:17p13.2 |
likely benign |
| NM_033004.4(NLRP1):c.203A>G (p.Asp68Gly) |
single nucleotide variant |
not provided [RCV003565886] |
Chr17:5583755 [GRCh38]
Chr17:5487075 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.1891G>A (p.Ala631Thr) |
single nucleotide variant |
not provided [RCV003823415] |
Chr17:5558805 [GRCh38]
Chr17:5462125 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.3510G>A (p.Val1170=) |
single nucleotide variant |
not provided [RCV003555727] |
Chr17:5530491 [GRCh38]
Chr17:5433811 [GRCh37]
Chr17:17p13.2 |
likely benign |
| NM_033004.4(NLRP1):c.3112T>C (p.Phe1038Leu) |
single nucleotide variant |
not provided [RCV003707485] |
Chr17:5533325 [GRCh38]
Chr17:5436645 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.1476A>C (p.Arg492Ser) |
single nucleotide variant |
not provided [RCV003733737] |
Chr17:5559220 [GRCh38]
Chr17:5462540 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.2885C>T (p.Thr962Ile) |
single nucleotide variant |
not provided [RCV003710552] |
Chr17:5536926 [GRCh38]
Chr17:5440246 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.1785G>C (p.Gly595=) |
single nucleotide variant |
not provided [RCV003703977] |
Chr17:5558911 [GRCh38]
Chr17:5462231 [GRCh37]
Chr17:17p13.2 |
likely benign |
| NM_033004.4(NLRP1):c.602C>A (p.Ala201Asp) |
single nucleotide variant |
not provided [RCV003564732] |
Chr17:5581909 [GRCh38]
Chr17:5485229 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.483A>G (p.Pro161=) |
single nucleotide variant |
not provided [RCV003675968] |
Chr17:5582028 [GRCh38]
Chr17:5485348 [GRCh37]
Chr17:17p13.2 |
likely benign |
| NM_033004.4(NLRP1):c.1223T>C (p.Ile408Thr) |
single nucleotide variant |
not provided [RCV003824161] |
Chr17:5559473 [GRCh38]
Chr17:5462793 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.4057+14A>C |
single nucleotide variant |
not provided [RCV003706523] |
Chr17:5517732 [GRCh38]
Chr17:5421052 [GRCh37]
Chr17:17p13.2 |
likely benign |
| NM_033004.4(NLRP1):c.758A>T (p.His253Leu) |
single nucleotide variant |
not provided [RCV003706602] |
Chr17:5559938 [GRCh38]
Chr17:5463258 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.2960+6G>A |
single nucleotide variant |
not provided [RCV003822436] |
Chr17:5536845 [GRCh38]
Chr17:5440165 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.2055G>A (p.Glu685=) |
single nucleotide variant |
not provided [RCV003551770] |
Chr17:5558641 [GRCh38]
Chr17:5461961 [GRCh37]
Chr17:17p13.2 |
likely benign |
| NM_033004.4(NLRP1):c.3805A>T (p.Lys1269Ter) |
single nucleotide variant |
not provided [RCV003705695] |
Chr17:5520991 [GRCh38]
Chr17:5424311 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.2868G>C (p.Leu956=) |
single nucleotide variant |
not provided [RCV003843626] |
Chr17:5539417 [GRCh38]
Chr17:5442737 [GRCh37]
Chr17:17p13.2 |
likely benign |
| NM_033004.4(NLRP1):c.597G>A (p.Gln199=) |
single nucleotide variant |
not provided [RCV003824359] |
Chr17:5581914 [GRCh38]
Chr17:5485234 [GRCh37]
Chr17:17p13.2 |
likely benign |
| NM_033004.4(NLRP1):c.2358-6C>A |
single nucleotide variant |
not provided [RCV003553565] |
Chr17:5553562 [GRCh38]
Chr17:5456882 [GRCh37]
Chr17:17p13.2 |
likely benign |
| NM_033004.4(NLRP1):c.4095C>T (p.Ala1365=) |
single nucleotide variant |
not provided [RCV003551848] |
Chr17:5515480 [GRCh38]
Chr17:5418800 [GRCh37]
Chr17:17p13.2 |
likely benign |
| NM_033004.4(NLRP1):c.1773C>T (p.Leu591=) |
single nucleotide variant |
not provided [RCV003729061] |
Chr17:5558923 [GRCh38]
Chr17:5462243 [GRCh37]
Chr17:17p13.2 |
likely benign |
| NM_033004.4(NLRP1):c.2803G>A (p.Asp935Asn) |
single nucleotide variant |
not provided [RCV003728943] |
Chr17:5539482 [GRCh38]
Chr17:5442802 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.860C>G (p.Pro287Arg) |
single nucleotide variant |
not provided [RCV003541848] |
Chr17:5559836 [GRCh38]
Chr17:5463156 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.1141G>A (p.Ala381Thr) |
single nucleotide variant |
not provided [RCV003705646] |
Chr17:5559555 [GRCh38]
Chr17:5462875 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.1044G>C (p.Lys348Asn) |
single nucleotide variant |
not provided [RCV003552147] |
Chr17:5559652 [GRCh38]
Chr17:5462972 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
| NM_033004.4(NLRP1):c.449-3dup |
duplication |
NLRP1-related condition [RCV003947123] |
Chr17:5582064..5582065 [GRCh38]
Chr17:5485384..5485385 [GRCh37]
Chr17:17p13.2 |
likely benign |
| NM_033004.4(NLRP1):c.725C>A (p.Pro242Gln) |
single nucleotide variant |
NLRP1-related condition [RCV003951855] |
Chr17:5559971 [GRCh38]
Chr17:5463291 [GRCh37]
Chr17:17p13.2 |
uncertain significance |
