| 155984966 | CV2344474 | single nucleotide variant | NM_001725.3(BPI):c.-6G>A | not specified [RCV004195218] | uncertain significance | 20 | 38304218 | 38304218 | Human | | name |
| 10449895 | CV215586 | single nucleotide variant | NM_001725.3(BPI):c.933+6G>A | not specified [RCV000203068] | uncertain significance | 20 | 38324052 | 38324052 | Human | | name |
| 15164793 | CV731344 | single nucleotide variant | NM_001725.3(BPI):c.664+7G>T | not provided [RCV000882274] | benign | 20 | 38318483 | 38318483 | Human | | name |
| 8586430 | CV121032 | single nucleotide variant | NM_001725.2(BPI):c.769-327G>A | Lung cancer [RCV000101552] | uncertain significance | 20 | 38323543 | 38323543 | Human | | name |
| 401885764 | CV2775082 | single nucleotide variant | NM_001725.3(BPI):c.5C>A (p.Ala2Asp) | not specified [RCV004346450] | uncertain significance | 20 | 38304228 | 38304228 | Human | | name |
| 12896987 | CV390456 | single nucleotide variant | NM_001725.3(BPI):c.51G>C (p.Leu17=) | not provided [RCV004717596]|not specified [RCV000456086] | benign | 20 | 38304274 | 38304274 | Human | | name |
| 15149679 | CV716963 | single nucleotide variant | NM_001725.3(BPI):c.22G>A (p.Ala8Thr) | not provided [RCV000967800] | benign | 20 | 38304245 | 38304245 | Human | | name |
| 15162921 | CV716964 | single nucleotide variant | NM_001725.3(BPI):c.23C>T (p.Ala8Val) | not provided [RCV000970370] | benign | 20 | 38304246 | 38304246 | Human | | name |
| 156280868 | CV2206451 | single nucleotide variant | NM_001725.3(BPI):c.77C>T (p.Ala26Val) | not specified [RCV004078769] | uncertain significance | 20 | 38304300 | 38304300 | Human | | name |
| 401776490 | CV2703250 | single nucleotide variant | NM_001725.3(BPI):c.61G>A (p.Gly21Ser) | not specified [RCV004315616] | uncertain significance | 20 | 38304284 | 38304284 | Human | | name |
| 401890595 | CV2778243 | single nucleotide variant | NM_001725.3(BPI):c.67G>A (p.Ala23Thr) | not specified [RCV004350306] | likely benign | 20 | 38304290 | 38304290 | Human | | name |
| 401895069 | CV2792761 | single nucleotide variant | NM_001725.3(BPI):c.52G>A (p.Val18Ile) | not specified [RCV004365517] | uncertain significance | 20 | 38304275 | 38304275 | Human | | name |
| 401930414 | CV2824403 | single nucleotide variant | NM_001725.3(BPI):c.450C>T (p.Pro150=) | not provided [RCV003440397] | likely benign | 20 | 38310566 | 38310566 | Human | | name |
| 597774110 | CV3643315 | single nucleotide variant | NM_001725.3(BPI):c.65C>A (p.Thr22Asn) | not specified [RCV004897907] | uncertain significance | 20 | 38304288 | 38304288 | Human | | name |
| 12896415 | CV390390 | single nucleotide variant | NM_001725.3(BPI):c.35C>T (p.Ala12Val) | not provided [RCV004717595]|not specified [RCV000455313] | benign | 20 | 38304258 | 38304258 | Human | | name |
| 12895920 | CV390479 | single nucleotide variant | NM_001725.3(BPI):c.534G>C (p.Val178=) | not provided [RCV004717597]|not specified [RCV000454634] | benign | 20 | 38310650 | 38310650 | Human | | name |
| 15191462 | CV705474 | single nucleotide variant | NM_001725.3(BPI):c.345C>T (p.Ser115=) | not provided [RCV000954783] | benign | 20 | 38309029 | 38309029 | Human | | name |
| 15137821 | CV773099 | single nucleotide variant | NM_001725.3(BPI):c.453G>A (p.Thr151=) | not provided [RCV000943300] | likely benign | 20 | 38310569 | 38310569 | Human | | name |
| 156089065 | CV2202034 | single nucleotide variant | NM_001725.3(BPI):c.113A>G (p.Gln38Arg) | not specified [RCV004075955] | uncertain significance | 20 | 38304336 | 38304336 | Human | | name |
| 597749078 | CV3643319 | single nucleotide variant | NM_001725.3(BPI):c.280C>G (p.Gln94Glu) | not specified [RCV004892281] | uncertain significance | 20 | 38308964 | 38308964 | Human | | name |
| 598263001 | CV3942406 | single nucleotide variant | NM_001725.3(BPI):c.128A>G (p.Tyr43Cys) | not specified [RCV005300915] | uncertain significance | 20 | 38304351 | 38304351 | Human | | name |
| 15202791 | CV705473 | single nucleotide variant | NM_001725.3(BPI):c.256C>T (p.Arg86Cys) | not provided [RCV000958037] | benign | 20 | 38308940 | 38308940 | Human | | name |
| 15137826 | CV773100 | single nucleotide variant | NM_001725.3(BPI):c.1074C>T (p.Thr358=) | not provided [RCV000943301] | likely benign | 20 | 38326345 | 38326345 | Human | | name |
| 156369460 | CV2193987 | single nucleotide variant | NM_001725.3(BPI):c.898G>T (p.Ala300Ser) | not specified [RCV004074711] | uncertain significance | 20 | 38324011 | 38324011 | Human | | name |
| 156236702 | CV2224146 | single nucleotide variant | NM_001725.3(BPI):c.327C>G (p.Asn109Lys) | not specified [RCV004096001] | uncertain significance | 20 | 38309011 | 38309011 | Human | | name |
| 156076323 | CV2248328 | single nucleotide variant | NM_001725.3(BPI):c.545T>C (p.Ile182Thr) | not specified [RCV004119486] | uncertain significance | 20 | 38311882 | 38311882 | Human | | name |
| 156067929 | CV2317955 | single nucleotide variant | NM_001725.3(BPI):c.834C>G (p.Asp278Glu) | not specified [RCV004177077] | uncertain significance | 20 | 38323947 | 38323947 | Human | | name |
| 156357971 | CV2318401 | single nucleotide variant | NM_001725.3(BPI):c.923G>C (p.Arg308Thr) | not specified [RCV004179560] | likely benign | 20 | 38324036 | 38324036 | Human | | name |
| 156162000 | CV2319515 | single nucleotide variant | NM_001725.3(BPI):c.661C>A (p.Pro221Thr) | not specified [RCV004185085] | uncertain significance | 20 | 38318473 | 38318473 | Human | | name |
| 156339042 | CV2367366 | single nucleotide variant | NM_001725.3(BPI):c.962C>A (p.Thr321Lys) | not specified [RCV004209271] | uncertain significance | 20 | 38324802 | 38324802 | Human | | name |
| 329388425 | CV2437395 | single nucleotide variant | NM_001725.3(BPI):c.623C>T (p.Ser208Phe) | not specified [RCV004256264] | uncertain significance | 20 | 38318435 | 38318435 | Human | | name |
| 401757579 | CV2675387 | single nucleotide variant | NM_001725.3(BPI):c.385G>A (p.Gly129Ser) | not specified [RCV004292192] | uncertain significance | 20 | 38310501 | 38310501 | Human | | name |
| 401741175 | CV2680563 | single nucleotide variant | NM_001725.3(BPI):c.812T>C (p.Met271Thr) | not specified [RCV004291195] | uncertain significance | 20 | 38323925 | 38323925 | Human | | name |
| 401772261 | CV2687466 | single nucleotide variant | NM_001725.3(BPI):c.299A>G (p.Asn100Ser) | not specified [RCV004300708] | uncertain significance | 20 | 38308983 | 38308983 | Human | | name |
| 401755121 | CV2732614 | single nucleotide variant | NM_001725.3(BPI):c.410G>C (p.Gly137Ala) | not specified [RCV004332589] | uncertain significance | 20 | 38310526 | 38310526 | Human | | name |
| 401898464 | CV2787943 | single nucleotide variant | NM_001725.3(BPI):c.688G>C (p.Ala230Pro) | not specified [RCV004358602] | uncertain significance | 20 | 38320206 | 38320206 | Human | | name |
| 405764085 | CV3301954 | single nucleotide variant | NM_001725.3(BPI):c.395A>C (p.Asp132Ala) | not specified [RCV004434136] | uncertain significance | 20 | 38310511 | 38310511 | Human | | name |
| 405764092 | CV3301955 | single nucleotide variant | NM_001725.3(BPI):c.607G>A (p.Glu203Lys) | not specified [RCV004434137] | likely benign | 20 | 38318419 | 38318419 | Human | | name |
| 405764097 | CV3301956 | single nucleotide variant | NM_001725.3(BPI):c.722C>T (p.Ala241Val) | not specified [RCV004434138] | uncertain significance | 20 | 38320240 | 38320240 | Human | | name |
| 405764103 | CV3301957 | single nucleotide variant | NM_001725.3(BPI):c.823G>A (p.Ala275Thr) | not specified [RCV004434139] | likely benign | 20 | 38323936 | 38323936 | Human | | name |
| 405764108 | CV3301958 | single nucleotide variant | NM_001725.3(BPI):c.840G>T (p.Met280Ile) | not specified [RCV004434140] | uncertain significance | 20 | 38323953 | 38323953 | Human | | name |
| 597749068 | CV3643313 | single nucleotide variant | NM_001725.3(BPI):c.770G>A (p.Ser257Asn) | not specified [RCV004892279] | uncertain significance | 20 | 38323883 | 38323883 | Human | | name |
| 597774114 | CV3643316 | single nucleotide variant | NM_001725.3(BPI):c.581G>A (p.Arg194Gln) | not specified [RCV004897908] | uncertain significance | 20 | 38311918 | 38311918 | Human | | name |
| 597749073 | CV3643318 | single nucleotide variant | NM_001725.3(BPI):c.394G>A (p.Asp132Asn) | not specified [RCV004892280] | uncertain significance | 20 | 38310510 | 38310510 | Human | | name |
| 12896397 | CV390457 | single nucleotide variant | NM_001725.3(BPI):c.575C>T (p.Ala192Val) | not provided [RCV004717598]|not specified [RCV000455289] | benign | 20 | 38311912 | 38311912 | Human | | name |
| 12897002 | CV390480 | single nucleotide variant | NM_001725.3(BPI):c.634G>A (p.Glu212Lys) | not provided [RCV004717599]|not specified [RCV000456105] | benign | 20 | 38318446 | 38318446 | Human | | name |
| 598162846 | CV3942402 | single nucleotide variant | NM_001725.3(BPI):c.927T>A (p.Asp309Glu) | not specified [RCV005307300] | uncertain significance | 20 | 38324040 | 38324040 | Human | | name |
| 598262995 | CV3942403 | single nucleotide variant | NM_001725.3(BPI):c.461A>T (p.Lys154Met) | not specified [RCV005300913] | uncertain significance | 20 | 38310577 | 38310577 | Human | | name |
| 598262998 | CV3942405 | single nucleotide variant | NM_001725.3(BPI):c.647A>G (p.Tyr216Cys) | not specified [RCV005300914] | uncertain significance | 20 | 38318459 | 38318459 | Human | | name |
| 598162858 | CV3942407 | single nucleotide variant | NM_001725.3(BPI):c.799G>T (p.Ala267Ser) | not specified [RCV005307302] | uncertain significance | 20 | 38323912 | 38323912 | Human | | name |
| 598263005 | CV3942409 | single nucleotide variant | NM_001725.3(BPI):c.521C>T (p.Ser174Leu) | not specified [RCV005300916] | uncertain significance | 20 | 38310637 | 38310637 | Human | | name |
| 15152713 | CV716965 | single nucleotide variant | NM_001725.3(BPI):c.406G>C (p.Glu136Gln) | not provided [RCV000968406] | benign | 20 | 38310522 | 38310522 | Human | | name |
| 15149697 | CV728646 | single nucleotide variant | NM_001725.3(BPI):c.997G>A (p.Ala333Thr) | not provided [RCV000879221] | likely benign | 20 | 38326268 | 38326268 | Human | | name |
| 156169959 | CV2296712 | single nucleotide variant | NM_001725.3(BPI):c.1147T>G (p.Phe383Val) | not specified [RCV004148624] | uncertain significance | 20 | 38326418 | 38326418 | Human | | name |
| 156384805 | CV2371605 | single nucleotide variant | NM_001725.3(BPI):c.1075G>A (p.Gly359Ser) | not specified [RCV004216852] | uncertain significance | 20 | 38326346 | 38326346 | Human | | name |
| 329386694 | CV2428387 | single nucleotide variant | NM_001725.3(BPI):c.1393G>A (p.Val465Ile) | not specified [RCV004253193] | uncertain significance | 20 | 38335654 | 38335654 | Human | | name |
| 401865062 | CV2757489 | single nucleotide variant | NM_001725.3(BPI):c.1001A>G (p.Lys334Arg) | not specified [RCV004340874] | uncertain significance | 20 | 38326272 | 38326272 | Human | | name |
| 405764071 | CV3301952 | single nucleotide variant | NM_001725.3(BPI):c.1269C>G (p.Phe423Leu) | not specified [RCV004434134] | uncertain significance | 20 | 38331087 | 38331087 | Human | | name |
| 405764078 | CV3301953 | single nucleotide variant | NM_001725.3(BPI):c.1417T>A (p.Phe473Ile) | not specified [RCV004434135] | uncertain significance | 20 | 38337149 | 38337149 | Human | | name |
| 407480044 | CV3424136 | single nucleotide variant | NM_001725.3(BPI):c.1438G>A (p.Val480Ile) | not specified [RCV004602143] | uncertain significance | 20 | 38337170 | 38337170 | Human | | name |
| 597774117 | CV3643317 | single nucleotide variant | NM_001725.3(BPI):c.1306G>T (p.Val436Leu) | not specified [RCV004897909] | uncertain significance | 20 | 38334463 | 38334463 | Human | | name |
| 598162852 | CV3942404 | single nucleotide variant | NM_001725.3(BPI):c.1031A>G (p.His344Arg) | not specified [RCV005307301] | uncertain significance | 20 | 38326302 | 38326302 | Human | | name |
| 15153798 | CV742397 | single nucleotide variant | NM_001725.3(BPI):c.1339A>G (p.Lys447Glu) | not provided [RCV000901831] | likely benign | 20 | 38335600 | 38335600 | Human | | name |
| 401919714 | CV2827156 | single nucleotide variant | NM_174897.2(BPIFB6):c.303-6C>T | not provided [RCV003431291] | uncertain significance | 20 | 33034757 | 33034757 | Human | | name |
| 405173582 | CV2955362 | duplication | NM_174932.3(BPIFC):c.531-16dup | not provided [RCV003675589] | benign | 22 | 32445713 | 32445714 | Human | | name |
| 15202771 | CV778569 | deletion | NM_080574.4(BPIFA2):c.646-9del | not provided [RCV000958028] | benign | 20 | 33179594 | 33179594 | Human | | name |
| 401919718 | CV2827159 | single nucleotide variant | NM_182519.3(BPIFB4):c.169+107T>G | not provided [RCV003431293] | likely benign | 20 | 33083107 | 33083107 | Human | | name |
| 401930447 | CV2827160 | single nucleotide variant | NM_182519.3(BPIFB4):c.170-154T>C | not provided [RCV003440370] | likely benign | 20 | 33083213 | 33083213 | Human | | name |
| 402516792 | CV2936444 | duplication | NM_174932.3(BPIFC):c.531-17_531-16dup | not provided [RCV003663009] | benign | 22 | 32445713 | 32445714 | Human | | name |
| 405079951 | CV3137142 | duplication | NM_174932.3(BPIFC):c.531-18_531-16dup | not provided [RCV003834041] | benign | 22 | 32445713 | 32445714 | Human | | name |
| 9832077 | CV167322 | deletion | NM_178466.5(BPIFA3):c.127+1119_621+52del | Preeclampsia [RCV000161888] | not provided | 20 | 33218782 | 33226542 | Human | | name |
| 126733936 | CV1020972 | single nucleotide variant | NM_130466.4(UBE3B):c.2085C>G (p.Tyr695Ter) | Kaufman oculocerebrofacial syndrome [RCV001334467] | pathogenic | 12 | 109521156 | 109521156 | Human | | alternate_id |
| 9589247 | CV166062 | insertion | NM_000053.3(ATP7B):c.2298_2299insC (p.Met769Hisfs) | Wilson disease [RCV000144366]|Wilson's disease [RCV000144366] | pathogenic|not provided | 13 | 51958367 | 51958367 | Human | | alternate_id |
| 405276104 | CV3199596 | single nucleotide variant | NM_178466.5(BPIFA3):c.602C>T (p.Pro201Leu) | BPIFA3-related disorder [RCV003916989] | benign | 20 | 33226471 | 33226471 | Human | | name , trait , alternate_id |
| 405292074 | CV3207817 | single nucleotide variant | NM_178466.5(BPIFA3):c.496G>A (p.Asp166Asn) | BPIFA3-related disorder [RCV003929495] | likely benign | 20 | 33225207 | 33225207 | Human | | name , trait , alternate_id |
| 405270312 | CV3211358 | single nucleotide variant | NM_178466.5(BPIFA3):c.326C>A (p.Ser109Ter) | BPIFA3-related disorder [RCV003949260] | benign | 20 | 33224402 | 33224402 | Human | | name , trait , alternate_id |
| 405286810 | CV3213771 | single nucleotide variant | NM_178466.5(BPIFA3):c.495C>A (p.Cys165Ter) | BPIFA3-related disorder [RCV003924172] | benign | 20 | 33225206 | 33225206 | Human | | name , trait , alternate_id |
| 405287590 | CV3217802 | single nucleotide variant | NM_178466.5(BPIFA3):c.406G>A (p.Val136Ile) | BPIFA3-related disorder [RCV003981925] | benign | 20 | 33225117 | 33225117 | Human | | name , trait , alternate_id |
| 15156476 | CV716907 | single nucleotide variant | NM_033197.3(BPIFB1):c.12G>A (p.Pro4=) | not provided [RCV000969119] | benign | 20 | 33286085 | 33286085 | Human | | name |
| 401930386 | CV2827158 | single nucleotide variant | NM_182519.3(BPIFB4):c.72G>A (p.Thr24=) | not provided [RCV003440369] | likely benign | 20 | 33081598 | 33081598 | Human | | name |
| 405764499 | CV3302023 | single nucleotide variant | NM_174932.3(BPIFC):c.246T>C (p.Asn82=) | not specified [RCV004434206] | likely benign | 22 | 32447340 | 32447340 | Human | | name |
| 597774668 | CV3643375 | single nucleotide variant | NM_182519.3(BPIFB4):c.87G>A (p.Thr29=) | not specified [RCV004897956] | likely benign | 20 | 33081613 | 33081613 | Human | | name |
| 156001098 | CV2284440 | single nucleotide variant | NM_182519.3(BPIFB4):c.26C>T (p.Ala9Val) | not specified [RCV004147053] | uncertain significance | 20 | 33081552 | 33081552 | Human | | name |
| 401767153 | CV2681469 | single nucleotide variant | NM_130852.3(BPIFA1):c.23T>C (p.Ile8Thr) | not specified [RCV004292007] | uncertain significance | 20 | 33237734 | 33237734 | Human | | name |
| 405764164 | CV3301968 | single nucleotide variant | NM_178466.5(BPIFA3):c.25C>T (p.Leu9Phe) | not specified [RCV004434150] | uncertain significance | 20 | 33217561 | 33217561 | Human | | name |
| 407480123 | CV3424149 | single nucleotide variant | NM_182519.3(BPIFB4):c.23C>T (p.Ala8Val) | not specified [RCV004602156] | uncertain significance | 20 | 33081549 | 33081549 | Human | | name |
| 407480150 | CV3424156 | single nucleotide variant | NM_182519.3(BPIFB4):c.11C>T (p.Ala4Val) | not specified [RCV004602161] | uncertain significance | 20 | 33081537 | 33081537 | Human | | name |
| 156151768 | CV2197994 | single nucleotide variant | NM_174897.2(BPIFB6):c.74G>A (p.Arg25Gln) | not specified [RCV004077202] | uncertain significance | 20 | 33031721 | 33031721 | Human | | name |
| 156378261 | CV2207672 | single nucleotide variant | NM_178466.5(BPIFA3):c.38G>A (p.Gly13Glu) | not specified [RCV004084128] | uncertain significance | 20 | 33217574 | 33217574 | Human | | name |
| 156112718 | CV2261183 | single nucleotide variant | NM_182519.3(BPIFB4):c.76C>A (p.Leu26Ile) | not specified [RCV004128069] | uncertain significance | 20 | 33081602 | 33081602 | Human | | name |
| 155945105 | CV2291976 | single nucleotide variant | NM_130852.3(BPIFA1):c.76G>T (p.Val26Leu) | not specified [RCV004158482] | likely benign | 20 | 33237787 | 33237787 | Human | | name |
| 156166983 | CV2319975 | single nucleotide variant | NM_033197.3(BPIFB1):c.94G>C (p.Gly32Arg) | not specified [RCV004167848] | uncertain significance | 20 | 33286167 | 33286167 | Human | | name |
| 156396323 | CV2326213 | single nucleotide variant | NM_178466.5(BPIFA3):c.58G>T (p.Ala20Ser) | not specified [RCV004180478] | uncertain significance | 20 | 33217594 | 33217594 | Human | | name |
| 155967091 | CV2329876 | single nucleotide variant | NM_130852.3(BPIFA1):c.88C>G (p.Gln30Glu) | not specified [RCV004183334] | uncertain significance | 20 | 33237799 | 33237799 | Human | | name |
| 156040334 | CV2332801 | single nucleotide variant | NM_174932.3(BPIFC):c.175C>T (p.Leu59Phe) | not specified [RCV004189469] | uncertain significance | 22 | 32453453 | 32453453 | Human | | name |
| 156235711 | CV2346383 | single nucleotide variant | NM_130852.3(BPIFA1):c.76G>A (p.Val26Met) | not specified [RCV004203864] | uncertain significance | 20 | 33237787 | 33237787 | Human | | name |
| 156384105 | CV2361819 | single nucleotide variant | NM_130852.3(BPIFA1):c.62T>A (p.Phe21Tyr) | not specified [RCV004223290] | uncertain significance | 20 | 33237773 | 33237773 | Human | | name |
| 156257962 | CV2395318 | single nucleotide variant | NM_025227.3(BPIFB2):c.83G>A (p.Arg28Gln) | not specified [RCV004239414] | uncertain significance | 20 | 33008657 | 33008657 | Human | | name |
| 329358238 | CV2425164 | single nucleotide variant | NM_174897.2(BPIFB6):c.50G>A (p.Arg17Gln) | not specified [RCV004249051] | uncertain significance | 20 | 33031697 | 33031697 | Human | | name |
| 401919713 | CV2827155 | single nucleotide variant | NM_025227.3(BPIFB2):c.50T>A (p.Val17Glu) | not provided [RCV003431290] | likely benign | 20 | 33008624 | 33008624 | Human | 1 | name |
| 401919713 | CV2827155 | single nucleotide variant | NM_025227.3(BPIFB2):c.50T>A (p.Val17Glu) | not provided [RCV003431290] | likely benign | 20 | 33008624 | 33008625 | Human | 1 | name |
| 405764281 | CV3301987 | single nucleotide variant | NM_025227.3(BPIFB2):c.55G>A (p.Gly19Ser) | not specified [RCV004434170] | likely benign | 20 | 33008629 | 33008629 | Human | | name |
| 405764286 | CV3301988 | single nucleotide variant | NM_025227.3(BPIFB2):c.62C>T (p.Ser21Phe) | not specified [RCV004434171] | uncertain significance | 20 | 33008636 | 33008636 | Human | | name |
| 405764486 | CV3302021 | single nucleotide variant | NM_174932.3(BPIFC):c.121T>C (p.Tyr41His) | not specified [RCV004434204] | uncertain significance | 22 | 32457266 | 32457266 | Human | | name |
| 405764493 | CV3302022 | single nucleotide variant | NM_174932.3(BPIFC):c.122A>G (p.Tyr41Cys) | not specified [RCV004434205] | uncertain significance | 22 | 32457265 | 32457265 | Human | | name |
| 407480068 | CV3424140 | single nucleotide variant | NM_178466.5(BPIFA3):c.53C>T (p.Pro18Leu) | not specified [RCV004602147] | uncertain significance | 20 | 33217589 | 33217589 | Human | | name |
| 407480140 | CV3424154 | single nucleotide variant | NM_182519.3(BPIFB4):c.94G>A (p.Val32Met) | not specified [RCV004602159] | uncertain significance | 20 | 33081620 | 33081620 | Human | | name |
| 597774679 | CV3643372 | single nucleotide variant | NM_182519.3(BPIFB4):c.61G>A (p.Glu21Lys) | not specified [RCV004897953] | uncertain significance | 20 | 33081587 | 33081587 | Human | | name |
| 597774511 | CV3643387 | single nucleotide variant | NM_174932.3(BPIFC):c.286G>T (p.Ala96Ser) | not specified [RCV004897965] | uncertain significance | 22 | 32447300 | 32447300 | Human | | name |
| 597774507 | CV3643388 | single nucleotide variant | NM_174932.3(BPIFC):c.287C>T (p.Ala96Val) | not specified [RCV004897966] | uncertain significance | 22 | 32447299 | 32447299 | Human | | name |
| 597774265 | CV3643394 | single nucleotide variant | NM_174932.3(BPIFC):c.244A>G (p.Asn82Asp) | not specified [RCV004897972] | uncertain significance | 22 | 32453384 | 32453384 | Human | | name |
| 598162872 | CV3942416 | single nucleotide variant | NM_130852.3(BPIFA1):c.71T>A (p.Leu24Gln) | not specified [RCV005307304] | uncertain significance | 20 | 33237782 | 33237782 | Human | | name |
| 598263032 | CV3942419 | single nucleotide variant | NM_080574.4(BPIFA2):c.43A>C (p.Thr15Pro) | not specified [RCV005300924] | uncertain significance | 20 | 33169188 | 33169188 | Human | | name |
| 598263079 | CV3942447 | single nucleotide variant | NM_182519.3(BPIFB4):c.43G>C (p.Val15Leu) | not specified [RCV005300938] | uncertain significance | 20 | 33081569 | 33081569 | Human | | name |
| 598263083 | CV3942449 | single nucleotide variant | NM_182519.3(BPIFB4):c.71C>T (p.Thr24Met) | not specified [RCV005300939] | uncertain significance | 20 | 33081597 | 33081597 | Human | | name |
| 598162982 | CV3942452 | single nucleotide variant | NM_182519.3(BPIFB4):c.60C>A (p.His20Gln) | not specified [RCV005307322] | likely benign | 20 | 33081586 | 33081586 | Human | | name |
| 598163022 | CV3942465 | single nucleotide variant | NM_174932.3(BPIFC):c.152A>C (p.Glu51Ala) | not specified [RCV005307328] | uncertain significance | 22 | 32453476 | 32453476 | Human | | name |
| 15111362 | CV716906 | single nucleotide variant | NM_080574.4(BPIFA2):c.303G>T (p.Gly101=) | not provided [RCV000961090] | benign | 20 | 33174079 | 33174079 | Human | | name |
| 8637626 | CV92852 | single nucleotide variant | NM_174932.2(BPIFC):c.218T>C (p.Val73Ala) | Malignant melanoma [RCV000072950] | not provided | 22 | 32453410 | 32453410 | Human | | name |
| 156397461 | CV2200536 | single nucleotide variant | NM_130852.3(BPIFA1):c.239G>A (p.Gly80Glu) | not specified [RCV004078886] | uncertain significance | 20 | 33238133 | 33238133 | Human | | name |
| 155986478 | CV2247980 | single nucleotide variant | NM_033197.3(BPIFB1):c.181G>T (p.Ala61Ser) | not specified [RCV004121407] | uncertain significance | 20 | 33288806 | 33288806 | Human | | name |
| 156075045 | CV2247982 | single nucleotide variant | NM_033197.3(BPIFB1):c.182C>A (p.Ala61Asp) | not specified [RCV004121409] | uncertain significance | 20 | 33288807 | 33288807 | Human | | name |
| 156338683 | CV2271316 | single nucleotide variant | NM_025227.3(BPIFB2):c.142G>T (p.Ala48Ser) | not specified [RCV004136436] | uncertain significance | 20 | 33011056 | 33011056 | Human | | name |
| 156082415 | CV2292917 | single nucleotide variant | NM_025227.3(BPIFB2):c.139C>T (p.Arg47Trp) | not specified [RCV004148413] | uncertain significance | 20 | 33011053 | 33011053 | Human | | name |
| 156206326 | CV2297953 | single nucleotide variant | NM_178466.5(BPIFA3):c.157G>A (p.Ala53Thr) | not specified [RCV004157875] | uncertain significance | 20 | 33223840 | 33223840 | Human | | name |
| 156178499 | CV2331319 | single nucleotide variant | NM_033197.3(BPIFB1):c.170C>T (p.Pro57Leu) | not specified [RCV004183963] | uncertain significance | 20 | 33288795 | 33288795 | Human | | name |
| 156184288 | CV2335554 | single nucleotide variant | NM_182519.3(BPIFB4):c.178G>A (p.Asp60Asn) | not specified [RCV004193766] | uncertain significance | 20 | 33083375 | 33083375 | Human | | name |
| 156136651 | CV2357223 | single nucleotide variant | NM_174932.3(BPIFC):c.785C>A (p.Pro262His) | not specified [RCV004207005] | uncertain significance | 22 | 32435843 | 32435843 | Human | | name |
| 156154855 | CV2359655 | single nucleotide variant | NM_178466.5(BPIFA3):c.245G>C (p.Ser82Thr) | not specified [RCV004210482] | uncertain significance | 20 | 33223928 | 33223928 | Human | | name |
| 156133500 | CV2361864 | single nucleotide variant | NM_174897.2(BPIFB6):c.226G>A (p.Val76Ile) | not specified [RCV004207640] | uncertain significance | 20 | 33034214 | 33034214 | Human | | name |
| 156158850 | CV2364020 | single nucleotide variant | NM_174897.2(BPIFB6):c.109G>A (p.Ala37Thr) | not specified [RCV004221030] | uncertain significance | 20 | 33032995 | 33032995 | Human | | name |
| 156305277 | CV2369418 | single nucleotide variant | NM_182519.3(BPIFB4):c.218C>A (p.Pro73Gln) | not specified [RCV004210364] | uncertain significance | 20 | 33083415 | 33083415 | Human | | name |
| 155983261 | CV2371252 | single nucleotide variant | NM_182519.3(BPIFB4):c.217C>G (p.Pro73Ala) | not specified [RCV004220989] | uncertain significance | 20 | 33083414 | 33083414 | Human | | name |
| 156142701 | CV2383791 | single nucleotide variant | NM_080574.4(BPIFA2):c.217C>G (p.Leu73Val) | not specified [RCV004231663] | uncertain significance | 20 | 33172991 | 33172991 | Human | | name |
| 155955707 | CV2387150 | single nucleotide variant | NM_025227.3(BPIFB2):c.177G>T (p.Trp59Cys) | not specified [RCV004238258] | uncertain significance | 20 | 33011091 | 33011091 | Human | | name |
| 156258859 | CV2395428 | single nucleotide variant | NM_174932.3(BPIFC):c.626C>T (p.Ala209Val) | not specified [RCV004241301] | uncertain significance | 22 | 32442700 | 32442700 | Human | | name |
| 329393277 | CV2449619 | single nucleotide variant | NM_080574.4(BPIFA2):c.154A>G (p.Lys52Glu) | not specified [RCV004268537] | likely benign | 20 | 33169299 | 33169299 | Human | | name |
| 329371787 | CV2454891 | single nucleotide variant | NM_182519.3(BPIFB4):c.289G>T (p.Ala97Ser) | not specified [RCV004270388] | uncertain significance | 20 | 33083486 | 33083486 | Human | | name |
| 401720788 | CV2673489 | single nucleotide variant | NM_174932.3(BPIFC):c.346A>G (p.Thr116Ala) | not specified [RCV004288457] | uncertain significance | 22 | 32447240 | 32447240 | Human | | name |
| 401771144 | CV2679093 | single nucleotide variant | NM_174932.3(BPIFC):c.967G>A (p.Val323Met) | not specified [RCV004295086] | uncertain significance | 22 | 32433730 | 32433730 | Human | | name |
| 401719079 | CV2679410 | single nucleotide variant | NM_174932.3(BPIFC):c.944A>G (p.Gln315Arg) | not specified [RCV004285938] | uncertain significance | 22 | 32433753 | 32433753 | Human | | name |
| 401783803 | CV2720448 | single nucleotide variant | NM_033197.3(BPIFB1):c.238G>A (p.Val80Ile) | not specified [RCV004327871] | likely benign | 20 | 33288863 | 33288863 | Human | | name |
| 401768422 | CV2735300 | single nucleotide variant | NM_174932.3(BPIFC):c.610G>T (p.Ala204Ser) | not specified [RCV004333966] | uncertain significance | 22 | 32442716 | 32442716 | Human | | name |
| 401874121 | CV2754569 | single nucleotide variant | NM_033197.3(BPIFB1):c.187C>T (p.Arg63Trp) | not specified [RCV004339247] | uncertain significance | 20 | 33288812 | 33288812 | Human | | name |
| 401875140 | CV2756247 | single nucleotide variant | NM_080574.4(BPIFA2):c.158G>A (p.Gly53Asp) | not specified [RCV004338343] | uncertain significance | 20 | 33172932 | 33172932 | Human | | name |
| 401919717 | CV2827157 | single nucleotide variant | NM_001376932.3(BPIFB3):c.81C>T (p.Leu27=) | not provided [RCV003431292] | likely benign | 20 | 33055516 | 33055516 | Human | | name |
| 405764112 | CV3301959 | single nucleotide variant | NM_130852.3(BPIFA1):c.121C>T (p.Pro41Ser) | not specified [RCV004434141] | uncertain significance | 20 | 33237832 | 33237832 | Human | | name |
| 405764129 | CV3301962 | single nucleotide variant | NM_080574.4(BPIFA2):c.197A>G (p.Gln66Arg) | not specified [RCV004434144] | uncertain significance | 20 | 33172971 | 33172971 | Human | | name |
| 405764148 | CV3301965 | single nucleotide variant | NM_178466.5(BPIFA3):c.140G>A (p.Gly47Asp) | not specified [RCV004434147] | uncertain significance | 20 | 33223823 | 33223823 | Human | | name |
| 405764154 | CV3301966 | single nucleotide variant | NM_178466.5(BPIFA3):c.217G>A (p.Ala73Thr) | not specified [RCV004434148] | uncertain significance | 20 | 33223900 | 33223900 | Human | | name |
| 405764160 | CV3301967 | single nucleotide variant | NM_178466.5(BPIFA3):c.258C>A (p.His86Gln) | not specified [RCV004434149] | uncertain significance | 20 | 33223941 | 33223941 | Human | | name |
| 405764171 | CV3301969 | single nucleotide variant | NM_178466.5(BPIFA3):c.260A>G (p.Gln87Arg) | not specified [RCV004434151] | uncertain significance | 20 | 33223943 | 33223943 | Human | | name |
| 405764196 | CV3301973 | single nucleotide variant | NM_033197.3(BPIFB1):c.106A>G (p.Ile36Val) | not specified [RCV004434155] | uncertain significance | 20 | 33286179 | 33286179 | Human | | name |
| 405764216 | CV3301976 | single nucleotide variant | NM_033197.3(BPIFB1):c.143A>G (p.Asn48Ser) | not specified [RCV004434158] | uncertain significance | 20 | 33288768 | 33288768 | Human | | name |
| 405764257 | CV3301983 | single nucleotide variant | NM_025227.3(BPIFB2):c.140G>A (p.Arg47Gln) | not specified [RCV004434165] | uncertain significance | 20 | 33011054 | 33011054 | Human | | name |
| 405764263 | CV3301984 | single nucleotide variant | NM_025227.3(BPIFB2):c.232C>T (p.Arg78Cys) | not specified [RCV004434166] | uncertain significance | 20 | 33012831 | 33012831 | Human | | name |
| 405764358 | CV3302000 | single nucleotide variant | NM_182519.3(BPIFB4):c.248G>A (p.Gly83Asp) | not specified [RCV004434183] | uncertain significance | 20 | 33083445 | 33083445 | Human | | name |
| 405764403 | CV3302008 | single nucleotide variant | NM_174897.2(BPIFB6):c.121A>G (p.Ser41Gly) | not specified [RCV004434191] | uncertain significance | 20 | 33033007 | 33033007 | Human | | name |
| 405764410 | CV3302009 | single nucleotide variant | NM_174897.2(BPIFB6):c.151G>T (p.Ala51Ser) | not specified [RCV004434192] | uncertain significance | 20 | 33033037 | 33033037 | Human | | name |
| 405764415 | CV3302010 | single nucleotide variant | NM_174897.2(BPIFB6):c.259A>G (p.Ile87Val) | not specified [RCV004434193] | uncertain significance | 20 | 33034247 | 33034247 | Human | | name |
| 405764420 | CV3302011 | single nucleotide variant | NM_174897.2(BPIFB6):c.292A>G (p.Thr98Ala) | not specified [RCV004434194] | uncertain significance | 20 | 33034280 | 33034280 | Human | | name |
| 405764505 | CV3302024 | single nucleotide variant | NM_174932.3(BPIFC):c.508G>A (p.Val170Ile) | not specified [RCV004434207] | uncertain significance | 22 | 32445863 | 32445863 | Human | | name |
| 405764511 | CV3302025 | single nucleotide variant | NM_174932.3(BPIFC):c.751G>A (p.Val251Ile) | not specified [RCV004434208] | uncertain significance | 22 | 32435877 | 32435877 | Human | | name |
| 407480105 | CV3424146 | single nucleotide variant | NM_025227.3(BPIFB2):c.188C>A (p.Ala63Glu) | not specified [RCV004602153] | uncertain significance | 20 | 33011102 | 33011102 | Human | | name |
| 407480127 | CV3424151 | single nucleotide variant | NM_182519.3(BPIFB4):c.280G>A (p.Asp94Asn) | not specified [RCV004602157] | uncertain significance | 20 | 33083477 | 33083477 | Human | | name |
| 407480181 | CV3424162 | single nucleotide variant | NM_174932.3(BPIFC):c.968T>G (p.Val323Gly) | not specified [RCV004602167] | uncertain significance | 22 | 32433729 | 32433729 | Human | | name |
| 407480187 | CV3424163 | single nucleotide variant | NM_174932.3(BPIFC):c.425G>A (p.Gly142Asp) | not specified [RCV004602168] | uncertain significance | 22 | 32445946 | 32445946 | Human | | name |
| 407480193 | CV3424164 | single nucleotide variant | NM_174932.3(BPIFC):c.498C>G (p.Ser166Arg) | not specified [RCV004602169] | uncertain significance | 22 | 32445873 | 32445873 | Human | | name |
| 597774121 | CV3643321 | single nucleotide variant | NM_130852.3(BPIFA1):c.292G>A (p.Val98Met) | not specified [RCV004897910] | uncertain significance | 20 | 33238186 | 33238186 | Human | | name |
| 597774151 | CV3643330 | single nucleotide variant | NM_178466.5(BPIFA3):c.200A>G (p.Asn67Ser) | not specified [RCV004897918] | uncertain significance | 20 | 33223883 | 33223883 | Human | | name |
| 597774177 | CV3643338 | single nucleotide variant | NM_033197.3(BPIFB1):c.283C>T (p.Leu95Phe) | not specified [RCV004897925] | uncertain significance | 20 | 33289910 | 33289910 | Human | | name |
| 597774707 | CV3643363 | single nucleotide variant | NM_182519.3(BPIFB4):c.242T>C (p.Leu81Pro) | not specified [RCV004897946] | uncertain significance | 20 | 33083439 | 33083439 | Human | | name |
| 597774683 | CV3643371 | single nucleotide variant | NM_182519.3(BPIFB4):c.286A>G (p.Thr96Ala) | not specified [RCV004897952] | uncertain significance | 20 | 33083483 | 33083483 | Human | | name |
| 597774676 | CV3643373 | single nucleotide variant | NM_182519.3(BPIFB4):c.181A>T (p.Ile61Phe) | not specified [RCV004897954] | uncertain significance | 20 | 33083378 | 33083378 | Human | | name |
| 597749131 | CV3643379 | single nucleotide variant | NM_174897.2(BPIFB6):c.148G>A (p.Glu50Lys) | not specified [RCV004892292] | uncertain significance | 20 | 33033034 | 33033034 | Human | | name |
| 597774642 | CV3643384 | single nucleotide variant | NM_174932.3(BPIFC):c.844A>C (p.Ile282Leu) | not specified [RCV004897963] | uncertain significance | 22 | 32435784 | 32435784 | Human | | name |
| 597774319 | CV3643391 | single nucleotide variant | NM_174932.3(BPIFC):c.485A>T (p.Tyr162Phe) | not specified [RCV004897969] | uncertain significance | 22 | 32445886 | 32445886 | Human | | name |
| 597774257 | CV3643392 | single nucleotide variant | NM_174932.3(BPIFC):c.793C>T (p.Pro265Ser) | not specified [RCV004897970] | uncertain significance | 22 | 32435835 | 32435835 | Human | | name |
| 598263009 | CV3942410 | single nucleotide variant | NM_130852.3(BPIFA1):c.122C>T (p.Pro41Leu) | not specified [RCV005300917] | uncertain significance | 20 | 33237833 | 33237833 | Human | | name |
| 598263019 | CV3942413 | single nucleotide variant | NM_130852.3(BPIFA1):c.168C>A (p.Ser56Arg) | not specified [RCV005300920] | uncertain significance | 20 | 33238062 | 33238062 | Human | | name |
| 598263025 | CV3942415 | single nucleotide variant | NM_130852.3(BPIFA1):c.134C>T (p.Thr45Ile) | not specified [RCV005300922] | uncertain significance | 20 | 33237845 | 33237845 | Human | | name |
| 598263036 | CV3942420 | single nucleotide variant | NM_080574.4(BPIFA2):c.178G>A (p.Val60Ile) | not specified [RCV005300925] | uncertain significance | 20 | 33172952 | 33172952 | Human | | name |
| 598263042 | CV3942422 | single nucleotide variant | NM_080574.4(BPIFA2):c.272A>G (p.Lys91Arg) | not specified [RCV005300927] | uncertain significance | 20 | 33173046 | 33173046 | Human | | name |
| 598162896 | CV3942425 | single nucleotide variant | NM_178466.5(BPIFA3):c.185T>C (p.Phe62Ser) | not specified [RCV005307308] | uncertain significance | 20 | 33223868 | 33223868 | Human | | name |
| 598263046 | CV3942426 | single nucleotide variant | NM_033197.3(BPIFB1):c.164A>G (p.Gln55Arg) | not specified [RCV005300928] | uncertain significance | 20 | 33288789 | 33288789 | Human | | name |
| 598263053 | CV3942430 | single nucleotide variant | NM_033197.3(BPIFB1):c.202G>A (p.Gly68Arg) | not specified [RCV005300930] | uncertain significance | 20 | 33288827 | 33288827 | Human | | name |
| 598162976 | CV3942451 | single nucleotide variant | NM_182519.3(BPIFB4):c.211C>A (p.Pro71Thr) | not specified [RCV005307321] | uncertain significance | 20 | 33083408 | 33083408 | Human | | name |
| 598163010 | CV3942458 | single nucleotide variant | NM_174897.2(BPIFB6):c.118G>A (p.Glu40Lys) | not specified [RCV005307326] | uncertain significance | 20 | 33033004 | 33033004 | Human | | name |
| 598263105 | CV3942462 | single nucleotide variant | NM_174932.3(BPIFC):c.520G>A (p.Gly174Arg) | not specified [RCV005300946] | uncertain significance | 22 | 32445851 | 32445851 | Human | | name |
| 598263110 | CV3942464 | single nucleotide variant | NM_174932.3(BPIFC):c.784C>A (p.Pro262Thr) | not specified [RCV005300947] | uncertain significance | 22 | 32435844 | 32435844 | Human | | name |
| 598163035 | CV3942469 | single nucleotide variant | NM_174932.3(BPIFC):c.435C>G (p.Ile145Met) | not specified [RCV005307330] | uncertain significance | 22 | 32445936 | 32445936 | Human | | name |
| 15114538 | CV716908 | single nucleotide variant | NM_033197.3(BPIFB1):c.116A>G (p.Lys39Arg) | not provided [RCV000961694] | benign | 20 | 33288741 | 33288741 | Human | | name |
| 8628489 | CV83633 | single nucleotide variant | NM_033197.2(BPIFB1):c.1362G>A (p.Leu454=) | Malignant melanoma [RCV000063714] | not provided | 20 | 33306954 | 33306954 | Human | | name |
| 8628672 | CV83816 | single nucleotide variant | NM_174932.2(BPIFC):c.368C>T (p.Pro123Leu) | Malignant melanoma [RCV000063897] | not provided | 22 | 32447218 | 32447218 | Human | | name |
| 8637258 | CV92484 | single nucleotide variant | NM_080574.2(BPIFA2):c.109G>A (p.Glu37Lys) | Malignant melanoma [RCV000072582] | not provided | 20 | 33169254 | 33169254 | Human | | name |
| 156397824 | CV2193777 | single nucleotide variant | NM_080574.4(BPIFA2):c.662G>A (p.Arg221His) | not specified [RCV004074536] | likely benign | 20 | 33179620 | 33179620 | Human | | name |
| 156145676 | CV2196816 | single nucleotide variant | NM_174897.2(BPIFB6):c.737C>A (p.Pro246His) | not specified [RCV004069827] | uncertain significance | 20 | 33037629 | 33037629 | Human | | name |
| 156089283 | CV2202050 | single nucleotide variant | NM_025227.3(BPIFB2):c.710C>T (p.Thr237Met) | not specified [RCV004075968] | uncertain significance | 20 | 33018677 | 33018677 | Human | | name |
| 156068942 | CV2203737 | single nucleotide variant | NM_130852.3(BPIFA1):c.745G>A (p.Gly249Arg) | not specified [RCV004074382] | uncertain significance | 20 | 33242501 | 33242501 | Human | | name |
| 156325644 | CV2205383 | single nucleotide variant | NM_033197.3(BPIFB1):c.865G>A (p.Val289Met) | not specified [RCV004082331] | uncertain significance | 20 | 33301350 | 33301350 | Human | | name |
| 156376728 | CV2206814 | single nucleotide variant | NM_130852.3(BPIFA1):c.475A>T (p.Ile159Phe) | not specified [RCV004083491] | uncertain significance | 20 | 33240279 | 33240279 | Human | | name |
| 156110783 | CV2207725 | single nucleotide variant | NM_174897.2(BPIFB6):c.634G>A (p.Ala212Thr) | not specified [RCV004084169] | likely benign | 20 | 33036501 | 33036501 | Human | | name |
| 156222775 | CV2209059 | single nucleotide variant | NM_025227.3(BPIFB2):c.779C>T (p.Ser260Phe) | not specified [RCV004093302] | uncertain significance | 20 | 33018746 | 33018746 | Human | | name |
| 156179167 | CV2229502 | single nucleotide variant | NM_182519.3(BPIFB4):c.476C>A (p.Pro159His) | not specified [RCV004103045] | uncertain significance | 20 | 33083673 | 33083673 | Human | | name |
| 156384361 | CV2231060 | single nucleotide variant | NM_174897.2(BPIFB6):c.916C>T (p.Pro306Ser) | not specified [RCV004094291] | uncertain significance | 20 | 33039362 | 33039362 | Human | | name |
| 156242346 | CV2231420 | single nucleotide variant | NM_080574.4(BPIFA2):c.413C>T (p.Pro138Leu) | not specified [RCV004096499] | uncertain significance | 20 | 33175409 | 33175409 | Human | | name |
| 156238208 | CV2235763 | single nucleotide variant | NM_178466.5(BPIFA3):c.668T>C (p.Leu223Pro) | not specified [RCV004111893] | uncertain significance | 20 | 33226976 | 33226976 | Human | | name |
| 155945005 | CV2237915 | single nucleotide variant | NM_174932.3(BPIFC):c.1478G>A (p.Gly493Asp) | not specified [RCV004109140] | uncertain significance | 22 | 32414349 | 32414349 | Human | | name |
| 156136906 | CV2239762 | single nucleotide variant | NM_174897.2(BPIFB6):c.724G>A (p.Ala242Thr) | not specified [RCV004108293] | likely benign | 20 | 33037616 | 33037616 | Human | | name |
| 156075410 | CV2248052 | single nucleotide variant | NM_033197.3(BPIFB1):c.818C>G (p.Pro273Arg) | not specified [RCV004115333] | uncertain significance | 20 | 33301303 | 33301303 | Human | | name |
| 156207698 | CV2250060 | single nucleotide variant | NM_080574.4(BPIFA2):c.646A>G (p.Ile216Val) | not specified [RCV004116887] | likely benign | 20 | 33179604 | 33179604 | Human | | name |
| 156198584 | CV2255916 | single nucleotide variant | NM_080574.4(BPIFA2):c.473T>C (p.Ile158Thr) | not specified [RCV004122375] | uncertain significance | 20 | 33175469 | 33175469 | Human | | name |
| 156201352 | CV2256155 | single nucleotide variant | NM_033197.3(BPIFB1):c.982G>C (p.Ala328Pro) | not specified [RCV004116432] | uncertain significance | 20 | 33302916 | 33302916 | Human | | name |
| 156104527 | CV2260581 | single nucleotide variant | NM_130852.3(BPIFA1):c.324A>G (p.Ile108Met) | not specified [RCV004123352] | uncertain significance | 20 | 33239806 | 33239806 | Human | | name |
| 156319471 | CV2260845 | single nucleotide variant | NM_182519.3(BPIFB4):c.299G>C (p.Gly100Ala) | not specified [RCV004125753] | uncertain significance | 20 | 33083496 | 33083496 | Human | | name |
| 156171856 | CV2267781 | single nucleotide variant | NM_182519.3(BPIFB4):c.531G>C (p.Met177Ile) | not specified [RCV004134306] | uncertain significance | 20 | 33083728 | 33083728 | Human | | name |
| 156074857 | CV2273179 | single nucleotide variant | NM_178466.5(BPIFA3):c.436G>T (p.Val146Leu) | not specified [RCV004138116] | uncertain significance | 20 | 33225147 | 33225147 | Human | | name |
| 156233537 | CV2273968 | single nucleotide variant | NM_178466.5(BPIFA3):c.347C>T (p.Ser116Leu) | not specified [RCV004134366] | uncertain significance | 20 | 33224423 | 33224423 | Human | | name |
| 156275665 | CV2280073 | single nucleotide variant | NM_174897.2(BPIFB6):c.977A>G (p.Lys326Arg) | not specified [RCV004146429] | uncertain significance | 20 | 33039423 | 33039423 | Human | | name |
| 156271027 | CV2315653 | single nucleotide variant | NM_174897.2(BPIFB6):c.368G>A (p.Arg123Gln) | not specified [RCV004169685] | likely benign | 20 | 33034828 | 33034828 | Human | | name |
| 155971447 | CV2335686 | single nucleotide variant | NM_033197.3(BPIFB1):c.607G>A (p.Val203Met) | not specified [RCV004193887] | uncertain significance | 20 | 33297534 | 33297534 | Human | | name |
| 155982222 | CV2337138 | single nucleotide variant | NM_130852.3(BPIFA1):c.392T>C (p.Val131Ala) | not specified [RCV004192898] | uncertain significance | 20 | 33239874 | 33239874 | Human | | name |
| 155984748 | CV2344453 | single nucleotide variant | NM_182519.3(BPIFB4):c.706C>T (p.Arg236Trp) | not specified [RCV004195197] | uncertain significance | 20 | 33084920 | 33084920 | Human | | name |
| 156340226 | CV2347803 | single nucleotide variant | NM_025227.3(BPIFB2):c.337C>T (p.Pro113Ser) | not specified [RCV004195460] | uncertain significance | 20 | 33013838 | 33013838 | Human | | name |
| 156062542 | CV2351424 | single nucleotide variant | NM_080574.4(BPIFA2):c.300T>G (p.Phe100Leu) | not specified [RCV004193112] | likely benign | 20 | 33173074 | 33173074 | Human | | name |
| 156009607 | CV2362018 | single nucleotide variant | NM_025227.3(BPIFB2):c.751G>A (p.Glu251Lys) | not specified [RCV004209832] | likely benign | 20 | 33018718 | 33018718 | Human | | name |
| 156212196 | CV2366925 | single nucleotide variant | NM_025227.3(BPIFB2):c.820G>A (p.Ala274Thr) | not specified [RCV004213335] | uncertain significance | 20 | 33018787 | 33018787 | Human | | name |
| 156098400 | CV2392783 | single nucleotide variant | NM_178466.5(BPIFA3):c.394G>C (p.Asp132His) | not specified [RCV004247148] | uncertain significance | 20 | 33225105 | 33225105 | Human | | name |
| 155970174 | CV2400867 | single nucleotide variant | NM_174897.2(BPIFB6):c.607G>A (p.Val203Ile) | not specified [RCV004242519] | likely benign | 20 | 33036474 | 33036474 | Human | | name |
| 329388310 | CV2437294 | single nucleotide variant | NM_182519.3(BPIFB4):c.938A>G (p.Asn313Ser) | not specified [RCV004256175] | uncertain significance | 20 | 33088977 | 33088977 | Human | | name |
| 329361832 | CV2448067 | single nucleotide variant | NM_182519.3(BPIFB4):c.973G>A (p.Asp325Asn) | not specified [RCV004263293] | likely benign | 20 | 33089012 | 33089012 | Human | | name |
| 329354538 | CV2448378 | single nucleotide variant | NM_033197.3(BPIFB1):c.698A>T (p.Asp233Val) | not specified [RCV004256664] | uncertain significance | 20 | 33299935 | 33299935 | Human | | name |
| 329372939 | CV2451734 | single nucleotide variant | NM_130852.3(BPIFA1):c.478A>G (p.Thr160Ala) | not specified [RCV004274637] | uncertain significance | 20 | 33240282 | 33240282 | Human | | name |
| 329379037 | CV2460121 | single nucleotide variant | NM_174897.2(BPIFB6):c.477G>T (p.Lys159Asn) | not specified [RCV004273230] | uncertain significance | 20 | 33035105 | 33035105 | Human | | name |
| 401775137 | CV2692271 | single nucleotide variant | NM_182519.3(BPIFB4):c.631G>A (p.Val211Met) | not specified [RCV004310271] | uncertain significance | 20 | 33083828 | 33083828 | Human | | name |
| 401729083 | CV2694014 | single nucleotide variant | NM_182519.3(BPIFB4):c.865C>T (p.Arg289Trp) | not specified [RCV004300299] | uncertain significance | 20 | 33086103 | 33086103 | Human | | name |
| 401782687 | CV2697162 | single nucleotide variant | NM_025227.3(BPIFB2):c.595C>A (p.Pro199Thr) | not specified [RCV004302150] | uncertain significance | 20 | 33018276 | 33018276 | Human | | name |
| 401722711 | CV2703472 | single nucleotide variant | NM_182519.3(BPIFB4):c.835C>G (p.Arg279Gly) | not specified [RCV004317658] | uncertain significance | 20 | 33086073 | 33086073 | Human | | name |
| 401734975 | CV2706610 | single nucleotide variant | NM_080574.4(BPIFA2):c.740C>A (p.Thr247Asn) | not specified [RCV004319193] | uncertain significance | 20 | 33180550 | 33180550 | Human | | name |
| 401783310 | CV2716270 | single nucleotide variant | NM_174897.2(BPIFB6):c.592G>A (p.Gly198Ser) | not specified [RCV004323488] | uncertain significance | 20 | 33036459 | 33036459 | Human | | name |
| 401777304 | CV2721675 | single nucleotide variant | NM_025227.3(BPIFB2):c.361C>T (p.Arg121Cys) | not specified [RCV004316162] | uncertain significance | 20 | 33013862 | 33013862 | Human | | name |
| 401889388 | CV2762009 | single nucleotide variant | NM_174932.3(BPIFC):c.1075G>A (p.Asp359Asn) | not specified [RCV004339625] | uncertain significance | 22 | 32432447 | 32432447 | Human | | name |
| 401866593 | CV2762692 | single nucleotide variant | NM_025227.3(BPIFB2):c.643A>G (p.Ser215Gly) | not specified [RCV004340253] | uncertain significance | 20 | 33018324 | 33018324 | Human | | name |
| 401867923 | CV2767111 | single nucleotide variant | NM_182519.3(BPIFB4):c.334G>A (p.Glu112Lys) | not specified [RCV004347512] | uncertain significance | 20 | 33083531 | 33083531 | Human | | name |
| 401885649 | CV2774997 | single nucleotide variant | NM_174897.2(BPIFB6):c.973A>G (p.Met325Val) | not specified [RCV004346389] | uncertain significance | 20 | 33039419 | 33039419 | Human | | name |
| 401891034 | CV2778609 | single nucleotide variant | NM_033197.3(BPIFB1):c.947G>A (p.Arg316Gln) | not specified [RCV004344257] | likely benign | 20 | 33302378 | 33302378 | Human | | name |
| 401894362 | CV2780817 | single nucleotide variant | NM_025227.3(BPIFB2):c.510T>G (p.Ser170Arg) | not specified [RCV004352135] | likely benign | 20 | 33015490 | 33015490 | Human | | name |
| 405764118 | CV3301960 | single nucleotide variant | NM_130852.3(BPIFA1):c.544C>T (p.His182Tyr) | not specified [RCV004434142] | uncertain significance | 20 | 33240348 | 33240348 | Human | | name |
| 405764135 | CV3301963 | single nucleotide variant | NM_080574.4(BPIFA2):c.608C>T (p.Thr203Met) | not specified [RCV004434145] | uncertain significance | 20 | 33178191 | 33178191 | Human | | name |
| 405764143 | CV3301964 | single nucleotide variant | NM_080574.4(BPIFA2):c.715C>T (p.Pro239Ser) | not specified [RCV004434146] | uncertain significance | 20 | 33180525 | 33180525 | Human | | name |
| 405764176 | CV3301970 | single nucleotide variant | NM_178466.5(BPIFA3):c.394G>A (p.Asp132Asn) | not specified [RCV004434152] | likely benign | 20 | 33225105 | 33225105 | Human | | name |
| 405764183 | CV3301971 | single nucleotide variant | NM_178466.5(BPIFA3):c.433G>A (p.Val145Ile) | not specified [RCV004434153] | uncertain significance | 20 | 33225144 | 33225144 | Human | | name |
| 405764189 | CV3301972 | single nucleotide variant | NM_178466.5(BPIFA3):c.730C>T (p.Pro244Ser) | not specified [RCV004434154] | uncertain significance | 20 | 33227582 | 33227582 | Human | | name |
| 405764222 | CV3301977 | single nucleotide variant | NM_033197.3(BPIFB1):c.386T>C (p.Val129Ala) | not specified [RCV004434159] | uncertain significance | 20 | 33290977 | 33290977 | Human | | name |
| 405764228 | CV3301978 | single nucleotide variant | NM_033197.3(BPIFB1):c.821C>T (p.Thr274Ile) | not specified [RCV004434160] | uncertain significance | 20 | 33301306 | 33301306 | Human | | name |
| 405764233 | CV3301979 | single nucleotide variant | NM_033197.3(BPIFB1):c.940G>T (p.Ala314Ser) | not specified [RCV004434161] | uncertain significance | 20 | 33302371 | 33302371 | Human | | name |
| 405764270 | CV3301985 | single nucleotide variant | NM_025227.3(BPIFB2):c.398G>A (p.Ser133Asn) | not specified [RCV004434168] | uncertain significance | 20 | 33013899 | 33013899 | Human | | name |
| 405764275 | CV3301986 | single nucleotide variant | NM_025227.3(BPIFB2):c.430G>A (p.Ala144Thr) | not specified [RCV004434169] | uncertain significance | 20 | 33013931 | 33013931 | Human | | name |
| 405764294 | CV3301989 | single nucleotide variant | NM_025227.3(BPIFB2):c.754G>C (p.Gly252Arg) | not specified [RCV004434172] | uncertain significance | 20 | 33018721 | 33018721 | Human | | name |
| 405764301 | CV3301990 | single nucleotide variant | NM_025227.3(BPIFB2):c.812T>C (p.Leu271Pro) | not specified [RCV004434173] | uncertain significance | 20 | 33018779 | 33018779 | Human | | name |
| 405764308 | CV3301991 | single nucleotide variant | NM_025227.3(BPIFB2):c.934A>G (p.Met312Val) | not specified [RCV004434174] | uncertain significance | 20 | 33019604 | 33019604 | Human | | name |
| 405764364 | CV3302001 | single nucleotide variant | NM_182519.3(BPIFB4):c.530T>C (p.Met177Thr) | not specified [RCV004434184] | uncertain significance | 20 | 33083727 | 33083727 | Human | | name |
| 405764370 | CV3302002 | single nucleotide variant | NM_182519.3(BPIFB4):c.553G>T (p.Ala185Ser) | not specified [RCV004434185] | likely benign | 20 | 33083750 | 33083750 | Human | | name |
| 405764376 | CV3302003 | single nucleotide variant | NM_182519.3(BPIFB4):c.557G>A (p.Gly186Asp) | not specified [RCV004434186] | uncertain significance | 20 | 33083754 | 33083754 | Human | | name |
| 405764381 | CV3302004 | single nucleotide variant | NM_182519.3(BPIFB4):c.647G>A (p.Gly216Asp) | not specified [RCV004434187] | uncertain significance | 20 | 33083844 | 33083844 | Human | | name |
| 405764386 | CV3302005 | single nucleotide variant | NM_182519.3(BPIFB4):c.674C>T (p.Thr225Met) | not specified [RCV004434188] | uncertain significance | 20 | 33083871 | 33083871 | Human | | name |
| 405764392 | CV3302006 | single nucleotide variant | NM_182519.3(BPIFB4):c.718C>T (p.Arg240Trp) | not specified [RCV004434189] | uncertain significance | 20 | 33084932 | 33084932 | Human | | name |
| 405764397 | CV3302007 | single nucleotide variant | NM_182519.3(BPIFB4):c.820A>G (p.Ile274Val) | not specified [RCV004434190] | uncertain significance | 20 | 33086058 | 33086058 | Human | | name |
| 405764426 | CV3302012 | single nucleotide variant | NM_174897.2(BPIFB6):c.466A>G (p.Met156Val) | not specified [RCV004434195] | likely benign | 20 | 33035094 | 33035094 | Human | | name |
| 405764448 | CV3302015 | single nucleotide variant | NM_174897.2(BPIFB6):c.580C>T (p.Pro194Ser) | not specified [RCV004434198] | uncertain significance | 20 | 33036447 | 33036447 | Human | | name |
| 405764455 | CV3302016 | single nucleotide variant | NM_174897.2(BPIFB6):c.581C>T (p.Pro194Leu) | not specified [RCV004434199] | uncertain significance | 20 | 33036448 | 33036448 | Human | | name |
| 405764461 | CV3302017 | single nucleotide variant | NM_174897.2(BPIFB6):c.628G>A (p.Ala210Thr) | not specified [RCV004434200] | likely benign | 20 | 33036495 | 33036495 | Human | | name |
| 405764466 | CV3302018 | single nucleotide variant | NM_174897.2(BPIFB6):c.718G>A (p.Gly240Arg) | not specified [RCV004434201] | uncertain significance | 20 | 33037610 | 33037610 | Human | | name |
| 405764473 | CV3302019 | single nucleotide variant | NM_174897.2(BPIFB6):c.791C>G (p.Ser264Cys) | not specified [RCV004434202] | uncertain significance | 20 | 33037683 | 33037683 | Human | | name |
| 405764479 | CV3302020 | single nucleotide variant | NM_174932.3(BPIFC):c.1043T>C (p.Ile348Thr) | not specified [RCV004434203] | uncertain significance | 22 | 32432479 | 32432479 | Human | | name |
| 407480050 | CV3424137 | single nucleotide variant | NM_130852.3(BPIFA1):c.496G>A (p.Val166Met) | not specified [RCV004602144] | uncertain significance | 20 | 33240300 | 33240300 | Human | | name |
| 407480056 | CV3424138 | single nucleotide variant | NM_130852.3(BPIFA1):c.646C>T (p.Pro216Ser) | not specified [RCV004602145] | uncertain significance | 20 | 33241449 | 33241449 | Human | | name |
| 407480061 | CV3424139 | single nucleotide variant | NM_080574.4(BPIFA2):c.392C>T (p.Ala131Val) | not specified [RCV004602146] | uncertain significance | 20 | 33174168 | 33174168 | Human | | name |
| 407480075 | CV3424141 | single nucleotide variant | NM_178466.5(BPIFA3):c.422A>T (p.His141Leu) | not specified [RCV004602148] | uncertain significance | 20 | 33225133 | 33225133 | Human | | name |
| 407480083 | CV3424142 | single nucleotide variant | NM_033197.3(BPIFB1):c.466A>T (p.Ser156Cys) | not specified [RCV004602149] | uncertain significance | 20 | 33291057 | 33291057 | Human | | name |
| 407500264 | CV3424150 | single nucleotide variant | NM_182519.3(BPIFB4):c.760C>T (p.Arg254Cys) | not specified [RCV004607099] | likely benign | 20 | 33084974 | 33084974 | Human | | name |
| 407480134 | CV3424152 | single nucleotide variant | NM_182519.3(BPIFB4):c.731G>C (p.Gly244Ala) | not specified [RCV004602158] | uncertain significance | 20 | 33084945 | 33084945 | Human | | name |
| 407480155 | CV3424157 | single nucleotide variant | NM_182519.3(BPIFB4):c.866G>C (p.Arg289Pro) | not specified [RCV004602162] | uncertain significance | 20 | 33086104 | 33086104 | Human | | name |
| 407480166 | CV3424159 | single nucleotide variant | NM_174897.2(BPIFB6):c.358C>T (p.Arg120Trp) | not specified [RCV004602164] | uncertain significance | 20 | 33034818 | 33034818 | Human | | name |
| 407480176 | CV3424161 | single nucleotide variant | NM_174897.2(BPIFB6):c.587C>T (p.Pro196Leu) | not specified [RCV004602166] | uncertain significance | 20 | 33036454 | 33036454 | Human | | name |
| 407480198 | CV3424165 | single nucleotide variant | NM_174932.3(BPIFC):c.1246C>T (p.Arg416Cys) | not specified [RCV004602170] | uncertain significance | 22 | 32419376 | 32419376 | Human | | name |
| 407480204 | CV3424167 | single nucleotide variant | NM_174932.3(BPIFC):c.1447A>G (p.Lys483Glu) | not specified [RCV004602171] | uncertain significance | 22 | 32414380 | 32414380 | Human | | name |
| 597749082 | CV3643320 | single nucleotide variant | NM_130852.3(BPIFA1):c.343C>G (p.Leu115Val) | not specified [RCV004892282] | uncertain significance | 20 | 33239825 | 33239825 | Human | | name |
| 597774126 | CV3643322 | single nucleotide variant | NM_130852.3(BPIFA1):c.586G>A (p.Gly196Ser) | not specified [RCV004897911] | uncertain significance | 20 | 33241389 | 33241389 | Human | | name |
| 597774132 | CV3643324 | single nucleotide variant | NM_130852.3(BPIFA1):c.430C>T (p.Pro144Ser) | not specified [RCV004897913] | uncertain significance | 20 | 33240234 | 33240234 | Human | | name |
| 597774136 | CV3643325 | single nucleotide variant | NM_080574.4(BPIFA2):c.463G>C (p.Ala155Pro) | not specified [RCV004897914] | uncertain significance | 20 | 33175459 | 33175459 | Human | | name |
| 597774139 | CV3643326 | single nucleotide variant | NM_080574.4(BPIFA2):c.706G>T (p.Val236Phe) | not specified [RCV004897915] | uncertain significance | 20 | 33179664 | 33179664 | Human | | name |
| 597749087 | CV3643327 | single nucleotide variant | NM_080574.4(BPIFA2):c.691G>A (p.Val231Ile) | not specified [RCV004892283] | uncertain significance | 20 | 33179649 | 33179649 | Human | | name |
| 597774143 | CV3643328 | single nucleotide variant | NM_178466.5(BPIFA3):c.403A>G (p.Ile135Val) | not specified [RCV004897916] | uncertain significance | 20 | 33225114 | 33225114 | Human | | name |
| 597774147 | CV3643329 | single nucleotide variant | NM_178466.5(BPIFA3):c.541A>G (p.Ile181Val) | not specified [RCV004897917] | uncertain significance | 20 | 33226410 | 33226410 | Human | | name |
| 597749091 | CV3643333 | single nucleotide variant | NM_033197.3(BPIFB1):c.855T>G (p.Ser285Arg) | not specified [RCV004892284] | likely benign | 20 | 33301340 | 33301340 | Human | | name |
| 597774162 | CV3643334 | single nucleotide variant | NM_033197.3(BPIFB1):c.686G>A (p.Arg229His) | not specified [RCV004897921] | likely benign | 20 | 33299923 | 33299923 | Human | | name |
| 597774166 | CV3643335 | single nucleotide variant | NM_033197.3(BPIFB1):c.964G>A (p.Gly322Arg) | not specified [RCV004897922] | uncertain significance | 20 | 33302395 | 33302395 | Human | | name |
| 597774169 | CV3643336 | single nucleotide variant | NM_033197.3(BPIFB1):c.959G>C (p.Ser320Thr) | not specified [RCV004897923] | uncertain significance | 20 | 33302390 | 33302390 | Human | | name |
| 597774173 | CV3643337 | single nucleotide variant | NM_033197.3(BPIFB1):c.397A>T (p.Met133Leu) | not specified [RCV004897924] | uncertain significance | 20 | 33290988 | 33290988 | Human | | name |
| 597749096 | CV3643340 | single nucleotide variant | NM_025227.3(BPIFB2):c.362G>A (p.Arg121His) | not specified [RCV004892285] | uncertain significance | 20 | 33013863 | 33013863 | Human | | name |
| 597774183 | CV3643341 | single nucleotide variant | NM_025227.3(BPIFB2):c.860C>T (p.Ser287Leu) | not specified [RCV004897927] | uncertain significance | 20 | 33019066 | 33019066 | Human | | name |
| 597774192 | CV3643344 | single nucleotide variant | NM_025227.3(BPIFB2):c.922T>C (p.Phe308Leu) | not specified [RCV004897929] | uncertain significance | 20 | 33019592 | 33019592 | Human | | name |
| 597774195 | CV3643345 | single nucleotide variant | NM_025227.3(BPIFB2):c.895C>T (p.Arg299Trp) | not specified [RCV004897930] | likely benign | 20 | 33019101 | 33019101 | Human | | name |
| 597774203 | CV3643347 | single nucleotide variant | NM_025227.3(BPIFB2):c.818A>G (p.Lys273Arg) | not specified [RCV004897932] | uncertain significance | 20 | 33018785 | 33018785 | Human | | name |
| 597774208 | CV3643348 | single nucleotide variant | NM_025227.3(BPIFB2):c.980T>A (p.Met327Lys) | not specified [RCV004897933] | uncertain significance | 20 | 33019650 | 33019650 | Human | | name |
| 597749105 | CV3643349 | single nucleotide variant | NM_025227.3(BPIFB2):c.755G>T (p.Gly252Val) | not specified [RCV004892287] | uncertain significance | 20 | 33018722 | 33018722 | Human | | name |
| 597749110 | CV3643350 | single nucleotide variant | NM_025227.3(BPIFB2):c.673G>A (p.Val225Ile) | not specified [RCV004892288] | uncertain significance | 20 | 33018640 | 33018640 | Human | | name |
| 597774249 | CV3643361 | single nucleotide variant | NM_182519.3(BPIFB4):c.976G>A (p.Val326Ile) | not specified [RCV004897944] | uncertain significance | 20 | 33089015 | 33089015 | Human | | name |
| 597774703 | CV3643364 | single nucleotide variant | NM_182519.3(BPIFB4):c.302G>T (p.Gly101Val) | not specified [RCV004897947] | uncertain significance | 20 | 33083499 | 33083499 | Human | | name |
| 597774699 | CV3643366 | single nucleotide variant | NM_182519.3(BPIFB4):c.730G>A (p.Gly244Ser) | not specified [RCV004897948] | uncertain significance | 20 | 33084944 | 33084944 | Human | | name |
| 597774691 | CV3643369 | single nucleotide variant | NM_182519.3(BPIFB4):c.775G>A (p.Gly259Arg) | not specified [RCV004897950] | uncertain significance | 20 | 33084989 | 33084989 | Human | | name |
| 597774688 | CV3643370 | single nucleotide variant | NM_182519.3(BPIFB4):c.481G>A (p.Val161Ile) | not specified [RCV004897951] | uncertain significance | 20 | 33083678 | 33083678 | Human | | name |
| 597774672 | CV3643374 | single nucleotide variant | NM_182519.3(BPIFB4):c.949A>G (p.Asn317Asp) | not specified [RCV004897955] | uncertain significance | 20 | 33088988 | 33088988 | Human | | name |
| 597749126 | CV3643377 | single nucleotide variant | NM_182519.3(BPIFB4):c.449G>A (p.Arg150Gln) | not specified [RCV004892291] | uncertain significance | 20 | 33083646 | 33083646 | Human | | name |
| 597774653 | CV3643381 | single nucleotide variant | NM_174897.2(BPIFB6):c.871A>G (p.Thr291Ala) | not specified [RCV004897960] | uncertain significance | 20 | 33038933 | 33038933 | Human | | name |
| 597774649 | CV3643382 | single nucleotide variant | NM_174897.2(BPIFB6):c.331G>A (p.Val111Met) | not specified [RCV004897961] | uncertain significance | 20 | 33034791 | 33034791 | Human | | name |
| 597774646 | CV3643383 | single nucleotide variant | NM_174897.2(BPIFB6):c.839A>G (p.Asp280Gly) | not specified [RCV004897962] | uncertain significance | 20 | 33037731 | 33037731 | Human | | name |
| 597774638 | CV3643386 | single nucleotide variant | NM_174932.3(BPIFC):c.1135G>A (p.Val379Ile) | not specified [RCV004897964] | uncertain significance | 22 | 32432387 | 32432387 | Human | | name |
| 597774503 | CV3643389 | single nucleotide variant | NM_174932.3(BPIFC):c.1384G>C (p.Asp462His) | not specified [RCV004897967] | uncertain significance | 22 | 32415932 | 32415932 | Human | | name |
| 597774403 | CV3643390 | single nucleotide variant | NM_174932.3(BPIFC):c.1261G>A (p.Val421Ile) | not specified [RCV004897968] | uncertain significance | 22 | 32417148 | 32417148 | Human | | name |
| 597774261 | CV3643393 | single nucleotide variant | NM_174932.3(BPIFC):c.1388T>C (p.Ile463Thr) | not specified [RCV004897971] | uncertain significance | 22 | 32415928 | 32415928 | Human | | name |
| 597774272 | CV3643396 | single nucleotide variant | NM_174932.3(BPIFC):c.1205T>G (p.Leu402Trp) | not specified [RCV004897974] | uncertain significance | 22 | 32431359 | 32431359 | Human | | name |
| 598263012 | CV3942411 | single nucleotide variant | NM_130852.3(BPIFA1):c.455G>A (p.Arg152Lys) | not specified [RCV005300918] | likely benign | 20 | 33240259 | 33240259 | Human | | name |
| 598263015 | CV3942412 | single nucleotide variant | NM_130852.3(BPIFA1):c.757G>T (p.Val253Phe) | not specified [RCV005300919] | uncertain significance | 20 | 33242513 | 33242513 | Human | | name |
| 598263022 | CV3942414 | single nucleotide variant | NM_130852.3(BPIFA1):c.437T>A (p.Val146Asp) | not specified [RCV005300921] | uncertain significance | 20 | 33240241 | 33240241 | Human | | name |
| 598162877 | CV3942417 | single nucleotide variant | NM_080574.4(BPIFA2):c.680T>C (p.Leu227Pro) | not specified [RCV005307305] | uncertain significance | 20 | 33179638 | 33179638 | Human | | name |
| 598263039 | CV3942421 | single nucleotide variant | NM_080574.4(BPIFA2):c.532C>A (p.Pro178Thr) | not specified [RCV005300926] | uncertain significance | 20 | 33175528 | 33175528 | Human | | name |
| 598162883 | CV3942423 | single nucleotide variant | NM_080574.4(BPIFA2):c.472A>G (p.Ile158Val) | not specified [RCV005307306] | likely benign | 20 | 33175468 | 33175468 | Human | | name |
| 598162889 | CV3942424 | single nucleotide variant | NM_080574.4(BPIFA2):c.707T>A (p.Val236Asp) | not specified [RCV005307307] | uncertain significance | 20 | 33179665 | 33179665 | Human | | name |
| 598162911 | CV3942428 | single nucleotide variant | NM_033197.3(BPIFB1):c.346A>G (p.Met116Val) | not specified [RCV005307310] | uncertain significance | 20 | 33289973 | 33289973 | Human | | name |
| 598162917 | CV3942432 | single nucleotide variant | NM_033197.3(BPIFB1):c.391T>C (p.Phe131Leu) | not specified [RCV005307311] | uncertain significance | 20 | 33290982 | 33290982 | Human | | name |
| 598162929 | CV3942434 | single nucleotide variant | NM_025227.3(BPIFB2):c.310G>A (p.Ala104Thr) | not specified [RCV005307313] | uncertain significance | 20 | 33013811 | 33013811 | Human | | name |
| 598162941 | CV3942437 | single nucleotide variant | NM_025227.3(BPIFB2):c.674T>C (p.Val225Ala) | not specified [RCV005307315] | uncertain significance | 20 | 33018641 | 33018641 | Human | | name |
| 598162970 | CV3942448 | single nucleotide variant | NM_182519.3(BPIFB4):c.409G>T (p.Gly137Trp) | not specified [RCV005307320] | uncertain significance | 20 | 33083606 | 33083606 | Human | | name |
| 598263086 | CV3942450 | single nucleotide variant | NM_182519.3(BPIFB4):c.433G>A (p.Gly145Ser) | not specified [RCV005300940] | uncertain significance | 20 | 33083630 | 33083630 | Human | | name |
| 598162989 | CV3942453 | single nucleotide variant | NM_182519.3(BPIFB4):c.857G>A (p.Gly286Asp) | not specified [RCV005307323] | uncertain significance | 20 | 33086095 | 33086095 | Human | | name |
| 598263090 | CV3942454 | single nucleotide variant | NM_174897.2(BPIFB6):c.307A>G (p.Met103Val) | not specified [RCV005300941] | uncertain significance | 20 | 33034767 | 33034767 | Human | | name |
| 598263099 | CV3942460 | single nucleotide variant | NM_174897.2(BPIFB6):c.958C>G (p.Pro320Ala) | not specified [RCV005300944] | uncertain significance | 20 | 33039404 | 33039404 | Human | | name |
| 598263102 | CV3942461 | single nucleotide variant | NM_174897.2(BPIFB6):c.859C>T (p.Pro287Ser) | not specified [RCV005300945] | uncertain significance | 20 | 33038921 | 33038921 | Human | | name |
| 598163017 | CV3942463 | single nucleotide variant | NM_174932.3(BPIFC):c.1277A>G (p.Asn426Ser) | not specified [RCV005307327] | uncertain significance | 22 | 32417132 | 32417132 | Human | | name |
| 598263114 | CV3942467 | single nucleotide variant | NM_174932.3(BPIFC):c.1291A>C (p.Ile431Leu) | not specified [RCV005300948] | uncertain significance | 22 | 32417118 | 32417118 | Human | | name |
| 598263117 | CV3942468 | single nucleotide variant | NM_174932.3(BPIFC):c.1092C>G (p.Ile364Met) | not specified [RCV005300949] | uncertain significance | 22 | 32432430 | 32432430 | Human | | name |
| 15195138 | CV705435 | single nucleotide variant | NM_033197.3(BPIFB1):c.418A>G (p.Thr140Ala) | not provided [RCV000955839] | benign | 20 | 33291009 | 33291009 | Human | | name |
| 15187552 | CV728600 | single nucleotide variant | NM_033197.3(BPIFB1):c.337C>T (p.Pro113Ser) | not provided [RCV000887287] | benign | 20 | 33289964 | 33289964 | Human | | name |
| 15134784 | CV742350 | single nucleotide variant | NM_130852.3(BPIFA1):c.309C>G (p.Asn103Lys) | not provided [RCV000898349] | likely benign | 20 | 33238203 | 33238203 | Human | | name |
| 15116012 | CV742351 | single nucleotide variant | NM_130852.3(BPIFA1):c.562C>A (p.Gln188Lys) | not provided [RCV000895128] | benign | 20 | 33240366 | 33240366 | Human | | name |
| 8628486 | CV83630 | single nucleotide variant | NM_025227.2(BPIFB2):c.617C>T (p.Ser206Phe) | Malignant melanoma [RCV000063711] | not provided | 20 | 33018298 | 33018298 | Human | | name |
| 8628487 | CV83631 | single nucleotide variant | NM_025227.2(BPIFB2):c.925C>T (p.Pro309Ser) | Malignant melanoma [RCV000063712] | not provided | 20 | 33019595 | 33019595 | Human | | name |
| 8637256 | CV92482 | single nucleotide variant | NM_025227.2(BPIFB2):c.491A>G (p.His164Arg) | Malignant melanoma [RCV000072580] | not provided | 20 | 33015471 | 33015471 | Human | | name |
| 8637257 | CV92483 | single nucleotide variant | NM_182519.2(BPIFB4):c.846G>A (p.Met282Ile) | Malignant melanoma [RCV000072581] | not provided | 20 | 33086084 | 33086084 | Human | | name |
| 8637259 | CV92485 | single nucleotide variant | NM_033197.2(BPIFB1):c.909G>A (p.Met303Ile) | Malignant melanoma [RCV000072583] | not provided | 20 | 33301394 | 33301394 | Human | | name |
| 155986724 | CV2248006 | single nucleotide variant | NM_001376932.3(BPIFB3):c.82G>T (p.Ala28Ser) | not specified [RCV004121430] | uncertain significance | 20 | 33055517 | 33055517 | Human | | name |
| 156175593 | CV2254671 | single nucleotide variant | NM_182519.3(BPIFB4):c.1278C>G (p.Phe426Leu) | not specified [RCV004115157] | uncertain significance | 20 | 33092592 | 33092592 | Human | | name |
| 156337897 | CV2271198 | single nucleotide variant | NM_182519.3(BPIFB4):c.1520T>C (p.Met507Thr) | not specified [RCV004134559] | uncertain significance | 20 | 33097738 | 33097738 | Human | | name |
| 156281595 | CV2295124 | single nucleotide variant | NM_033197.3(BPIFB1):c.1400C>G (p.Ala467Gly) | not specified [RCV004156225] | likely benign | 20 | 33309712 | 33309712 | Human | | name |
| 155902414 | CV2301431 | single nucleotide variant | NM_174897.2(BPIFB6):c.1243G>A (p.Val415Ile) | not specified [RCV004162365] | uncertain significance | 20 | 33042869 | 33042869 | Human | | name |
| 156049263 | CV2336508 | single nucleotide variant | NM_033197.3(BPIFB1):c.1238G>A (p.Gly413Glu) | not specified [RCV004194716] | uncertain significance | 20 | 33304875 | 33304875 | Human | | name |
| 156080467 | CV2337523 | single nucleotide variant | NM_025227.3(BPIFB2):c.1189A>T (p.Ile397Phe) | not specified [RCV004187953] | uncertain significance | 20 | 33020582 | 33020582 | Human | | name |
| 155905989 | CV2357230 | single nucleotide variant | NM_182519.3(BPIFB4):c.1597A>G (p.Thr533Ala) | not specified [RCV004207012] | uncertain significance | 20 | 33100453 | 33100453 | Human | | name |
| 155953239 | CV2393923 | single nucleotide variant | NM_025227.3(BPIFB2):c.1259C>T (p.Ala420Val) | not specified [RCV004233740] | uncertain significance | 20 | 33021723 | 33021723 | Human | | name |
| 155996813 | CV2398610 | single nucleotide variant | NM_182519.3(BPIFB4):c.1687C>T (p.Leu563Phe) | not specified [RCV004237919] | uncertain significance | 20 | 33104816 | 33104816 | Human | | name |
| 329375653 | CV2431597 | single nucleotide variant | NM_174897.2(BPIFB6):c.1280C>T (p.Pro427Leu) | not specified [RCV004254745] | uncertain significance | 20 | 33043318 | 33043318 | Human | | name |
| 329352541 | CV2453165 | single nucleotide variant | NM_174897.2(BPIFB6):c.1334C>A (p.Ala445Asp) | not specified [RCV004279544] | uncertain significance | 20 | 33044019 | 33044019 | Human | | name |
| 401771249 | CV2700957 | single nucleotide variant | NM_033197.3(BPIFB1):c.1201A>C (p.Asn401His) | not specified [RCV004307218] | uncertain significance | 20 | 33304018 | 33304018 | Human | | name |
| 401861853 | CV2766443 | single nucleotide variant | NM_174897.2(BPIFB6):c.1264G>C (p.Val422Leu) | not specified [RCV004347073] | uncertain significance | 20 | 33043302 | 33043302 | Human | | name |
| 401878770 | CV2770198 | single nucleotide variant | NM_033197.3(BPIFB1):c.1261G>A (p.Val421Ile) | not specified [RCV004356090] | uncertain significance | 20 | 33306008 | 33306008 | Human | | name |
| 401895421 | CV2786463 | single nucleotide variant | NM_182519.3(BPIFB4):c.1562T>C (p.Ile521Thr) | not specified [RCV004362042] | uncertain significance | 20 | 33097780 | 33097780 | Human | | name |
| 405764202 | CV3301974 | single nucleotide variant | NM_033197.3(BPIFB1):c.1160A>T (p.Gln387Leu) | not specified [RCV004434156] | uncertain significance | 20 | 33303977 | 33303977 | Human | | name |
| 405764209 | CV3301975 | single nucleotide variant | NM_033197.3(BPIFB1):c.1369G>A (p.Glu457Lys) | not specified [RCV004434157] | uncertain significance | 20 | 33306961 | 33306961 | Human | | name |
| 405764244 | CV3301981 | single nucleotide variant | NM_025227.3(BPIFB2):c.1289G>C (p.Gly430Ala) | not specified [RCV004434163] | uncertain significance | 20 | 33021753 | 33021753 | Human | | name |
| 405764250 | CV3301982 | single nucleotide variant | NM_025227.3(BPIFB2):c.1298A>G (p.Asn433Ser) | not specified [RCV004434164] | uncertain significance | 20 | 33021762 | 33021762 | Human | | name |
| 405764335 | CV3301996 | single nucleotide variant | NM_182519.3(BPIFB4):c.1426C>T (p.Pro476Ser) | not specified [RCV004434179] | uncertain significance | 20 | 33097644 | 33097644 | Human | | name |
| 405764343 | CV3301997 | single nucleotide variant | NM_182519.3(BPIFB4):c.1652T>A (p.Leu551His) | not specified [RCV004434180] | uncertain significance | 20 | 33102986 | 33102986 | Human | | name |
| 405764347 | CV3301998 | single nucleotide variant | NM_182519.3(BPIFB4):c.1669G>A (p.Gly557Ser) | not specified [RCV004434181] | uncertain significance | 20 | 33103003 | 33103003 | Human | | name |
| 405764353 | CV3301999 | single nucleotide variant | NM_182519.3(BPIFB4):c.1808T>C (p.Ile603Thr) | not specified [RCV004434182] | uncertain significance | 20 | 33107807 | 33107807 | Human | | name |
| 407480089 | CV3424143 | single nucleotide variant | NM_033197.3(BPIFB1):c.1217G>A (p.Arg406Gln) | not specified [RCV004602150] | uncertain significance | 20 | 33304854 | 33304854 | Human | | name |
| 407480094 | CV3424144 | single nucleotide variant | NM_025227.3(BPIFB2):c.1309G>T (p.Val437Phe) | not specified [RCV004602151] | uncertain significance | 20 | 33021773 | 33021773 | Human | | name |
| 407500269 | CV3424153 | single nucleotide variant | NM_182519.3(BPIFB4):c.1360C>G (p.Pro454Ala) | not specified [RCV004607100] | uncertain significance | 20 | 33095115 | 33095115 | Human | | name |
| 407480162 | CV3424158 | single nucleotide variant | NM_174897.2(BPIFB6):c.1178G>A (p.Gly393Asp) | not specified [RCV004602163] | uncertain significance | 20 | 33042005 | 33042005 | Human | | name |
| 407480172 | CV3424160 | single nucleotide variant | NM_174897.2(BPIFB6):c.1306C>G (p.Leu436Val) | not specified [RCV004602165] | uncertain significance | 20 | 33043344 | 33043344 | Human | | name |
| 597774156 | CV3643331 | single nucleotide variant | NM_033197.3(BPIFB1):c.1423T>G (p.Leu475Val) | not specified [RCV004897919] | uncertain significance | 20 | 33309735 | 33309735 | Human | | name |
| 597774179 | CV3643339 | single nucleotide variant | NM_025227.3(BPIFB2):c.1136C>T (p.Thr379Met) | not specified [RCV004897926] | uncertain significance | 20 | 33020383 | 33020383 | Human | | name |
| 597774200 | CV3643346 | single nucleotide variant | NM_025227.3(BPIFB2):c.1162A>G (p.Thr388Ala) | not specified [RCV004897931] | uncertain significance | 20 | 33020555 | 33020555 | Human | | name |
| 597774211 | CV3643351 | single nucleotide variant | NM_025227.3(BPIFB2):c.1049C>T (p.Ser350Leu) | not specified [RCV004897934] | uncertain significance | 20 | 33019719 | 33019719 | Human | | name |
| 597774214 | CV3643352 | single nucleotide variant | NM_001376932.3(BPIFB3):c.82G>A (p.Ala28Thr) | not specified [RCV004897935] | uncertain significance | 20 | 33055517 | 33055517 | Human | | name |
| 597774253 | CV3643362 | single nucleotide variant | NM_182519.3(BPIFB4):c.1735G>A (p.Ala579Thr) | not specified [RCV004897945] | likely benign | 20 | 33104864 | 33104864 | Human | | name |
| 597774695 | CV3643367 | single nucleotide variant | NM_182519.3(BPIFB4):c.1039G>A (p.Gly347Ser) | not specified [RCV004897949] | uncertain significance | 20 | 33089546 | 33089546 | Human | | name |
| 597749121 | CV3643368 | single nucleotide variant | NM_182519.3(BPIFB4):c.1666G>C (p.Val556Leu) | not specified [RCV004892290] | uncertain significance | 20 | 33103000 | 33103000 | Human | | name |
| 597774661 | CV3643378 | single nucleotide variant | NM_174897.2(BPIFB6):c.1033T>A (p.Trp345Arg) | not specified [RCV004897958] | likely benign | 20 | 33039479 | 33039479 | Human | | name |
| 597774657 | CV3643380 | single nucleotide variant | NM_174897.2(BPIFB6):c.1046C>A (p.Ala349Asp) | not specified [RCV004897959] | uncertain significance | 20 | 33039492 | 33039492 | Human | | name |
| 598263050 | CV3942429 | single nucleotide variant | NM_033197.3(BPIFB1):c.1039G>A (p.Glu347Lys) | not specified [RCV005300929] | uncertain significance | 20 | 33302973 | 33302973 | Human | | name |
| 598263056 | CV3942431 | single nucleotide variant | NM_033197.3(BPIFB1):c.1369G>C (p.Glu457Gln) | not specified [RCV005300931] | uncertain significance | 20 | 33306961 | 33306961 | Human | | name |
| 598162923 | CV3942433 | single nucleotide variant | NM_025227.3(BPIFB2):c.1342G>T (p.Val448Leu) | not specified [RCV005307312] | uncertain significance | 20 | 33023348 | 33023348 | Human | | name |
| 598162935 | CV3942435 | single nucleotide variant | NM_025227.3(BPIFB2):c.1247A>T (p.Asp416Val) | not specified [RCV005307314] | uncertain significance | 20 | 33021333 | 33021333 | Human | | name |
| 598263059 | CV3942436 | single nucleotide variant | NM_025227.3(BPIFB2):c.1342G>A (p.Val448Met) | not specified [RCV005300932] | uncertain significance | 20 | 33023348 | 33023348 | Human | | name |
| 598263063 | CV3942438 | single nucleotide variant | NM_025227.3(BPIFB2):c.1257T>A (p.Asn419Lys) | not specified [RCV005300933] | uncertain significance | 20 | 33021343 | 33021343 | Human | | name |
| 598162953 | CV3942440 | single nucleotide variant | NM_001376932.3(BPIFB3):c.77C>T (p.Thr26Met) | not specified [RCV005307317] | uncertain significance | 20 | 33055512 | 33055512 | Human | | name |
| 598162960 | CV3942441 | single nucleotide variant | NM_001376932.3(BPIFB3):c.73G>A (p.Gly25Ser) | not specified [RCV005307318] | uncertain significance | 20 | 33055508 | 33055508 | Human | | name |
| 598263076 | CV3942445 | single nucleotide variant | NM_182519.3(BPIFB4):c.1616T>A (p.Met539Lys) | not specified [RCV005300937] | uncertain significance | 20 | 33100472 | 33100472 | Human | | name |
| 598163004 | CV3942456 | single nucleotide variant | NM_174897.2(BPIFB6):c.1172C>T (p.Ser391Leu) | not specified [RCV005307325] | uncertain significance | 20 | 33041999 | 33041999 | Human | | name |
| 598263093 | CV3942457 | single nucleotide variant | NM_174897.2(BPIFB6):c.1112A>G (p.Asn371Ser) | not specified [RCV005300942] | uncertain significance | 20 | 33040288 | 33040288 | Human | | name |
| 598263096 | CV3942459 | single nucleotide variant | NM_174897.2(BPIFB6):c.1070A>C (p.Glu357Ala) | not specified [RCV005300943] | uncertain significance | 20 | 33039516 | 33039516 | Human | | name |
| 8628488 | CV83632 | single nucleotide variant | NM_001042439.2(BPIFA3):c.555G>A (p.Val185=) | Malignant melanoma [RCV000063713] | not provided | 20 | 33226971 | 33226971 | Human | | name |
| 8628490 | CV83634 | single nucleotide variant | NM_033197.2(BPIFB1):c.1363G>A (p.Gly455Arg) | Malignant melanoma [RCV000063715] | not provided | 20 | 33306955 | 33306955 | Human | | name |
| 156293642 | CV2233564 | single nucleotide variant | NM_001376932.3(BPIFB3):c.235G>C (p.Gly79Arg) | not specified [RCV004100039] | uncertain significance | 20 | 33056664 | 33056664 | Human | | name |
| 156285130 | CV2317605 | single nucleotide variant | NM_001376932.3(BPIFB3):c.137A>G (p.Glu46Gly) | not specified [RCV004172547] | likely benign | 20 | 33056566 | 33056566 | Human | | name |
| 156197821 | CV2357738 | single nucleotide variant | NM_001376932.3(BPIFB3):c.175G>A (p.Val59Met) | not specified [RCV004205032] | uncertain significance | 20 | 33056604 | 33056604 | Human | | name |
| 329401657 | CV2457279 | single nucleotide variant | NM_001376932.3(BPIFB3):c.203G>A (p.Gly68Glu) | not specified [RCV004267130] | uncertain significance | 20 | 33056632 | 33056632 | Human | | name |
| 401878394 | CV2774273 | single nucleotide variant | NM_001376932.3(BPIFB3):c.290C>T (p.Thr97Met) | not specified [RCV004347638] | uncertain significance | 20 | 33059398 | 33059398 | Human | | name |
| 156168628 | CV2197701 | single nucleotide variant | NM_001376932.3(BPIFB3):c.485C>G (p.Thr162Arg) | not specified [RCV004074907] | uncertain significance | 20 | 33060001 | 33060001 | Human | | name |
| 156152781 | CV2209391 | single nucleotide variant | NM_001376932.3(BPIFB3):c.451G>A (p.Gly151Ser) | not specified [RCV004093557] | uncertain significance | 20 | 33059967 | 33059967 | Human | | name |
| 156381330 | CV2218744 | single nucleotide variant | NM_001376932.3(BPIFB3):c.401C>T (p.Ala134Val) | not specified [RCV004084664] | uncertain significance | 20 | 33059917 | 33059917 | Human | | name |
| 156257126 | CV2219833 | single nucleotide variant | NM_001376932.3(BPIFB3):c.716T>C (p.Ile239Thr) | not specified [RCV004095491] | uncertain significance | 20 | 33064532 | 33064532 | Human | | name |
| 156089161 | CV2241454 | single nucleotide variant | NM_001376932.3(BPIFB3):c.556C>G (p.Leu186Val) | not specified [RCV004104366] | uncertain significance | 20 | 33061808 | 33061808 | Human | | name |
| 156021324 | CV2264446 | single nucleotide variant | NM_001376932.3(BPIFB3):c.494G>A (p.Gly165Asp) | not specified [RCV004138344] | uncertain significance | 20 | 33060010 | 33060010 | Human | | name |
| 156007177 | CV2401283 | single nucleotide variant | NM_001376932.3(BPIFB3):c.425G>A (p.Arg142Gln) | not specified [RCV004245829] | uncertain significance | 20 | 33059941 | 33059941 | Human | | name |
| 329367732 | CV2427530 | single nucleotide variant | NM_001376932.3(BPIFB3):c.768C>A (p.Asp256Glu) | not specified [RCV004250168] | uncertain significance | 20 | 33064701 | 33064701 | Human | | name |
| 405764315 | CV3301993 | single nucleotide variant | NM_001376932.3(BPIFB3):c.799C>T (p.Pro267Ser) | not specified [RCV004434176] | uncertain significance | 20 | 33064732 | 33064732 | Human | | name |
| 405764321 | CV3301994 | single nucleotide variant | NM_001376932.3(BPIFB3):c.892A>C (p.Met298Leu) | not specified [RCV004434177] | uncertain significance | 20 | 33064825 | 33064825 | Human | | name |
| 405764329 | CV3301995 | single nucleotide variant | NM_001376932.3(BPIFB3):c.904C>A (p.Pro302Thr) | not specified [RCV004434178] | uncertain significance | 20 | 33064837 | 33064837 | Human | | name |
| 407480115 | CV3424148 | single nucleotide variant | NM_001376932.3(BPIFB3):c.425G>T (p.Arg142Leu) | not specified [RCV004602155] | uncertain significance | 20 | 33059941 | 33059941 | Human | | name |
| 597774230 | CV3643356 | single nucleotide variant | NM_001376932.3(BPIFB3):c.349A>G (p.Thr117Ala) | not specified [RCV004897939] | uncertain significance | 20 | 33059457 | 33059457 | Human | | name |
| 597774234 | CV3643357 | single nucleotide variant | NM_001376932.3(BPIFB3):c.598A>G (p.Ser200Gly) | not specified [RCV004897940] | uncertain significance | 20 | 33063633 | 33063633 | Human | | name |
| 597774238 | CV3643358 | single nucleotide variant | NM_001376932.3(BPIFB3):c.400G>T (p.Ala134Ser) | not specified [RCV004897941] | uncertain significance | 20 | 33059916 | 33059916 | Human | | name |
| 598162946 | CV3942439 | single nucleotide variant | NM_001376932.3(BPIFB3):c.404C>T (p.Ala135Val) | not specified [RCV005307316] | uncertain significance | 20 | 33059920 | 33059920 | Human | | name |
| 598263067 | CV3942442 | single nucleotide variant | NM_001376932.3(BPIFB3):c.782G>A (p.Arg261His) | not specified [RCV005300934] | uncertain significance | 20 | 33064715 | 33064715 | Human | | name |
| 598263073 | CV3942444 | single nucleotide variant | NM_001376932.3(BPIFB3):c.997C>T (p.Leu333Phe) | not specified [RCV005300936] | uncertain significance | 20 | 33068833 | 33068833 | Human | | name |
| 156271884 | CV2195273 | single nucleotide variant | NM_001376932.3(BPIFB3):c.1055C>A (p.Ala352Asp) | not specified [RCV004080204] | uncertain significance | 20 | 33068891 | 33068891 | Human | | name |
| 156248892 | CV2277046 | single nucleotide variant | NM_001376932.3(BPIFB3):c.1102A>G (p.Lys368Glu) | not specified [RCV004140366] | uncertain significance | 20 | 33068938 | 33068938 | Human | | name |
| 156044220 | CV2307987 | single nucleotide variant | NM_001376932.3(BPIFB3):c.1125T>G (p.Phe375Leu) | not specified [RCV004170419] | uncertain significance | 20 | 33068961 | 33068961 | Human | | name |
| 156170201 | CV2354847 | single nucleotide variant | NM_001376932.3(BPIFB3):c.1196C>A (p.Ser399Tyr) | not specified [RCV004191345] | uncertain significance | 20 | 33069946 | 33069946 | Human | | name |
| 156308177 | CV2369877 | single nucleotide variant | NM_001376932.3(BPIFB3):c.1048A>G (p.Lys350Glu) | not specified [RCV004208348] | uncertain significance | 20 | 33068884 | 33068884 | Human | | name |
| 156000017 | CV2378654 | single nucleotide variant | NM_001376932.3(BPIFB3):c.1046A>G (p.Asn349Ser) | not specified [RCV004231125] | uncertain significance | 20 | 33068882 | 33068882 | Human | | name |
| 401775833 | CV2692507 | single nucleotide variant | NM_001376932.3(BPIFB3):c.1321G>A (p.Asp441Asn) | not specified [RCV004312257] | uncertain significance | 20 | 33072725 | 33072725 | Human | | name |
| 401762777 | CV2720070 | single nucleotide variant | NM_001376932.3(BPIFB3):c.1315G>A (p.Ala439Thr) | not specified [RCV004323642] | uncertain significance | 20 | 33072719 | 33072719 | Human | | name |
| 405764311 | CV3301992 | single nucleotide variant | NM_001376932.3(BPIFB3):c.1382T>C (p.Ile461Thr) | not specified [RCV004434175] | uncertain significance | 20 | 33072786 | 33072786 | Human | | name |
| 407480109 | CV3424147 | single nucleotide variant | NM_001376932.3(BPIFB3):c.1343A>T (p.Lys448Met) | not specified [RCV004602154] | uncertain significance | 20 | 33072747 | 33072747 | Human | | name |
| 597774218 | CV3643353 | single nucleotide variant | NM_001376932.3(BPIFB3):c.1390A>C (p.Asn464His) | not specified [RCV004897936] | uncertain significance | 20 | 33073576 | 33073576 | Human | | name |
| 597774226 | CV3643355 | single nucleotide variant | NM_001376932.3(BPIFB3):c.1385T>C (p.Val462Ala) | not specified [RCV004897938] | uncertain significance | 20 | 33072789 | 33072789 | Human | | name |
| 597774242 | CV3643359 | single nucleotide variant | NM_001376932.3(BPIFB3):c.1277A>G (p.His426Arg) | not specified [RCV004897942] | uncertain significance | 20 | 33072132 | 33072132 | Human | | name |
| 597774245 | CV3643360 | single nucleotide variant | NM_001376932.3(BPIFB3):c.1027C>T (p.Pro343Ser) | not specified [RCV004897943] | uncertain significance | 20 | 33068863 | 33068863 | Human | | name |
| 598263070 | CV3942443 | single nucleotide variant | NM_001376932.3(BPIFB3):c.1096G>A (p.Val366Ile) | not specified [RCV005300935] | uncertain significance | 20 | 33068932 | 33068932 | Human | | name |