| 405269602 | CV3187407 | single nucleotide variant | NM_001295.3(CCR1):c.54T>C (p.Tyr18=) | not provided [RCV003887491] | likely benign | 3 | 46204260 | 46204260 | Human | | name |
| 15153492 | CV720463 | single nucleotide variant | NM_001295.3(CCR1):c.162G>C (p.Leu54=) | not provided [RCV000880019] | benign|likely benign | 3 | 46204152 | 46204152 | Human | | name |
| 401922211 | CV2827321 | single nucleotide variant | NM_001295.3(CCR1):c.858G>A (p.Thr286=) | not provided [RCV003433545] | likely benign | 3 | 46203456 | 46203456 | Human | | name |
| 405756824 | CV3303270 | single nucleotide variant | NM_001295.3(CCR1):c.90G>C (p.Arg30Ser) | not specified [RCV004432956] | uncertain significance | 3 | 46204224 | 46204224 | Human | | name |
| 407492212 | CV3428718 | single nucleotide variant | NM_001295.3(CCR1):c.92C>A (p.Ala31Asp) | not specified [RCV004604908] | uncertain significance | 3 | 46204222 | 46204222 | Human | | name |
| 597762479 | CV3638325 | single nucleotide variant | NM_001295.3(CCR1):c.91G>A (p.Ala31Thr) | not specified [RCV004895117] | uncertain significance | 3 | 46204223 | 46204223 | Human | | name |
| 15178316 | CV698121 | single nucleotide variant | NM_001295.3(CCR1):c.903C>T (p.Tyr301=) | not provided [RCV000951250] | benign|likely benign | 3 | 46203411 | 46203411 | Human | | name |
| 15183888 | CV708873 | single nucleotide variant | NM_001295.3(CCR1):c.381G>A (p.Leu127=) | not provided [RCV000974980] | benign | 3 | 46203933 | 46203933 | Human | | name |
| 15102825 | CV720462 | single nucleotide variant | NM_001295.3(CCR1):c.438C>T (p.Thr146=) | not provided [RCV000892555] | likely benign | 3 | 46203876 | 46203876 | Human | | name |
| 15145752 | CV734079 | single nucleotide variant | NM_001295.3(CCR1):c.996C>T (p.Ser332=) | not provided [RCV000900211] | likely benign | 3 | 46203318 | 46203318 | Human | | name |
| 156070921 | CV2200215 | single nucleotide variant | NM_001295.3(CCR1):c.109C>A (p.Leu37Met) | not specified [RCV004076565] | uncertain significance | 3 | 46204205 | 46204205 | Human | | name |
| 156032104 | CV2239321 | single nucleotide variant | NM_001295.3(CCR1):c.257C>T (p.Thr86Met) | not specified [RCV004114064] | uncertain significance | 3 | 46204057 | 46204057 | Human | | name |
| 405756781 | CV3303264 | single nucleotide variant | NM_001295.3(CCR1):c.105A>C (p.Gln35His) | not specified [RCV004432950] | uncertain significance | 3 | 46204209 | 46204209 | Human | | name |
| 405756788 | CV3303265 | single nucleotide variant | NM_001295.3(CCR1):c.172G>A (p.Val58Ile) | not specified [RCV004432951] | uncertain significance | 3 | 46204142 | 46204142 | Human | | name |
| 15196057 | CV698120 | single nucleotide variant | NM_001295.3(CCR1):c.1067G>A (p.Ter356=) | not provided [RCV000956091] | benign | 3 | 46203247 | 46203247 | Human | | name |
| 15151635 | CV720460 | single nucleotide variant | NM_001295.3(CCR1):c.1014G>A (p.Arg338=) | not provided [RCV000879638] | benign | 3 | 46203300 | 46203300 | Human | | name |
| 156377881 | CV2207580 | single nucleotide variant | NM_001295.3(CCR1):c.299T>C (p.Val100Ala) | not specified [RCV004090369] | uncertain significance | 3 | 46204015 | 46204015 | Human | | name |
| 156151854 | CV2209310 | single nucleotide variant | NM_001295.3(CCR1):c.742T>G (p.Phe248Val) | not specified [RCV004091704] | uncertain significance | 3 | 46203572 | 46203572 | Human | | name |
| 156047719 | CV2382546 | single nucleotide variant | NM_001295.3(CCR1):c.938G>A (p.Arg313Gln) | not specified [RCV004232876] | uncertain significance | 3 | 46203376 | 46203376 | Human | | name |
| 401735565 | CV2695346 | single nucleotide variant | NM_001295.3(CCR1):c.674T>C (p.Ile225Thr) | not specified [RCV004305559] | uncertain significance | 3 | 46203640 | 46203640 | Human | | name |
| 401759356 | CV2708615 | single nucleotide variant | NM_001295.3(CCR1):c.955C>G (p.Arg319Gly) | not specified [RCV004307601] | uncertain significance | 3 | 46203359 | 46203359 | Human | | name |
| 401783567 | CV2723715 | single nucleotide variant | NM_001295.3(CCR1):c.544A>T (p.Thr182Ser) | not specified [RCV004325881] | likely benign | 3 | 46203770 | 46203770 | Human | | name |
| 405756794 | CV3303266 | single nucleotide variant | NM_001295.3(CCR1):c.475G>T (p.Ala159Ser) | not specified [RCV004432952] | uncertain significance | 3 | 46203839 | 46203839 | Human | | name |
| 405756802 | CV3303267 | single nucleotide variant | NM_001295.3(CCR1):c.553C>T (p.Leu185Phe) | not specified [RCV004432953] | uncertain significance | 3 | 46203761 | 46203761 | Human | | name |
| 405756816 | CV3303269 | single nucleotide variant | NM_001295.3(CCR1):c.840C>A (p.Asp280Glu) | not specified [RCV004432955] | uncertain significance | 3 | 46203474 | 46203474 | Human | | name |
| 597766497 | CV3638321 | single nucleotide variant | NM_001295.3(CCR1):c.689C>A (p.Pro230Gln) | not specified [RCV004896144] | uncertain significance | 3 | 46203625 | 46203625 | Human | | name |
| 597766501 | CV3638322 | single nucleotide variant | NM_001295.3(CCR1):c.578G>A (p.Arg193Gln) | not specified [RCV004896145] | likely benign | 3 | 46203736 | 46203736 | Human | | name |
| 597766506 | CV3638323 | single nucleotide variant | NM_001295.3(CCR1):c.955C>T (p.Arg319Cys) | not specified [RCV004896146] | uncertain significance | 3 | 46203359 | 46203359 | Human | | name |
| 597766509 | CV3638324 | single nucleotide variant | NM_001295.3(CCR1):c.364T>C (p.Phe122Leu) | not specified [RCV004896147] | uncertain significance | 3 | 46203950 | 46203950 | Human | | name |
| 15196060 | CV698122 | single nucleotide variant | NM_001295.3(CCR1):c.871T>C (p.Tyr291His) | not provided [RCV000956092] | benign | 3 | 46203443 | 46203443 | Human | | name |
| 15182348 | CV720461 | single nucleotide variant | NM_001295.3(CCR1):c.476C>T (p.Ala159Val) | not provided [RCV000885971] | likely benign | 3 | 46203838 | 46203838 | Human | | name |
| 15186934 | CV734080 | single nucleotide variant | NM_001295.3(CCR1):c.868G>A (p.Ala290Thr) | not provided [RCV000908948] | likely benign | 3 | 46203446 | 46203446 | Human | | name |
| 329376863 | CV2460586 | single nucleotide variant | NM_001295.3(CCR1):c.1019G>T (p.Ser340Ile) | not specified [RCV004268863] | uncertain significance | 3 | 46203295 | 46203295 | Human | | name |
| 597762483 | CV3638320 | single nucleotide variant | NM_001295.3(CCR1):c.1033T>C (p.Ser345Pro) | not specified [RCV004895116] | uncertain significance | 3 | 46203281 | 46203281 | Human | | name |
| 598205704 | CV3939882 | single nucleotide variant | NM_001295.3(CCR1):c.1048G>C (p.Glu350Gln) | not specified [RCV005314986] | uncertain significance | 3 | 46203266 | 46203266 | Human | | name |
| 15177153 | CV727187 | single nucleotide variant | NM_016602.3(CCR10):c.8C>T (p.Thr3Met) | not provided [RCV000884754] | benign | 17 | 42681816 | 42681816 | Human | | name |
| 155928910 | CV2363391 | single nucleotide variant | NM_016602.3(CCR10):c.68C>T (p.Ser23Leu) | not specified [RCV004215977] | uncertain significance | 17 | 42680574 | 42680574 | Human | | name |
| 401751995 | CV2703145 | single nucleotide variant | NM_016602.3(CCR10):c.83C>G (p.Pro28Arg) | not specified [RCV004321431] | uncertain significance | 17 | 42680559 | 42680559 | Human | | name |
| 405756849 | CV3303274 | single nucleotide variant | NM_016602.3(CCR10):c.77C>T (p.Pro26Leu) | not specified [RCV004432960] | uncertain significance | 17 | 42680565 | 42680565 | Human | | name |
| 15148001 | CV715466 | single nucleotide variant | NM_016602.3(CCR10):c.465C>G (p.Pro155=) | not provided [RCV000967455] | benign | 17 | 42680177 | 42680177 | Human | | name |
| 156089543 | CV2295602 | single nucleotide variant | NM_016602.3(CCR10):c.176A>G (p.Asn59Ser) | not specified [RCV004160687] | uncertain significance | 17 | 42680466 | 42680466 | Human | | name |
| 155970282 | CV2309171 | single nucleotide variant | NM_016602.3(CCR10):c.145C>G (p.Leu49Val) | not specified [RCV004171522] | uncertain significance | 17 | 42680497 | 42680497 | Human | | name |
| 401884304 | CV2761654 | single nucleotide variant | NM_016602.3(CCR10):c.151G>A (p.Val51Met) | not specified [RCV004337274] | uncertain significance | 17 | 42680491 | 42680491 | Human | | name |
| 405756837 | CV3303272 | single nucleotide variant | NM_016602.3(CCR10):c.233C>T (p.Ser78Phe) | not specified [RCV004432958] | uncertain significance | 17 | 42680409 | 42680409 | Human | | name |
| 407492216 | CV3428719 | single nucleotide variant | NM_016602.3(CCR10):c.241C>G (p.Leu81Val) | not specified [RCV004604909] | uncertain significance | 17 | 42680401 | 42680401 | Human | | name |
| 598205717 | CV3939884 | single nucleotide variant | NM_016602.3(CCR10):c.230C>T (p.Thr77Ile) | not specified [RCV005314988] | uncertain significance | 17 | 42680412 | 42680412 | Human | | name |
| 598228497 | CV3939887 | single nucleotide variant | NM_016602.3(CCR10):c.101C>T (p.Ala34Val) | not specified [RCV005319089] | uncertain significance | 17 | 42680541 | 42680541 | Human | | name |
| 156237287 | CV2235662 | single nucleotide variant | NM_016602.3(CCR10):c.932C>G (p.Ala311Gly) | not specified [RCV004111807] | uncertain significance | 17 | 42679710 | 42679710 | Human | | name |
| 156213695 | CV2257395 | single nucleotide variant | NM_016602.3(CCR10):c.985A>G (p.Ser329Gly) | not specified [RCV004125482] | likely benign | 17 | 42679657 | 42679657 | Human | | name |
| 156269687 | CV2305909 | single nucleotide variant | NM_016602.3(CCR10):c.418G>T (p.Val140Leu) | not specified [RCV004167696] | uncertain significance | 17 | 42680224 | 42680224 | Human | | name |
| 156173780 | CV2326882 | single nucleotide variant | NM_016602.3(CCR10):c.427G>A (p.Ala143Thr) | not specified [RCV004176705] | uncertain significance | 17 | 42680215 | 42680215 | Human | | name |
| 155935601 | CV2371831 | single nucleotide variant | NM_016602.3(CCR10):c.851C>A (p.Ala284Asp) | not specified [RCV004221529] | uncertain significance | 17 | 42679791 | 42679791 | Human | | name |
| 156140227 | CV2374361 | single nucleotide variant | NM_016602.3(CCR10):c.490A>G (p.Ile164Val) | not specified [RCV004229489] | uncertain significance | 17 | 42680152 | 42680152 | Human | | name |
| 156115259 | CV2397262 | single nucleotide variant | NM_016602.3(CCR10):c.799C>A (p.Leu267Met) | not provided [RCV004696278]|not specified [RCV004238796] | uncertain significance | 17 | 42679843 | 42679843 | Human | | name |
| 329374251 | CV2443798 | single nucleotide variant | NM_016602.3(CCR10):c.977G>A (p.Arg326Gln) | not specified [RCV004258139] | uncertain significance | 17 | 42679665 | 42679665 | Human | | name |
| 329391908 | CV2463754 | single nucleotide variant | NM_016602.3(CCR10):c.445G>T (p.Gly149Trp) | not specified [RCV004279593] | uncertain significance | 17 | 42680197 | 42680197 | Human | | name |
| 405756845 | CV3303273 | single nucleotide variant | NM_016602.3(CCR10):c.335C>T (p.Thr112Ile) | not specified [RCV004432959] | uncertain significance | 17 | 42680307 | 42680307 | Human | | name |
| 405756862 | CV3303276 | single nucleotide variant | NM_016602.3(CCR10):c.997G>A (p.Gly333Arg) | not specified [RCV004432962] | uncertain significance | 17 | 42679645 | 42679645 | Human | | name |
| 597767052 | CV3638327 | single nucleotide variant | NM_016602.3(CCR10):c.749T>C (p.Val250Ala) | not specified [RCV004896148] | uncertain significance | 17 | 42679893 | 42679893 | Human | | name |
| 597767046 | CV3638328 | single nucleotide variant | NM_016602.3(CCR10):c.935T>A (p.Phe312Tyr) | not specified [RCV004896149] | uncertain significance | 17 | 42679707 | 42679707 | Human | | name |
| 598205711 | CV3939883 | single nucleotide variant | NM_016602.3(CCR10):c.832C>A (p.Arg278Ser) | not specified [RCV005314987] | uncertain significance | 17 | 42679810 | 42679810 | Human | | name |
| 15174174 | CV679138 | single nucleotide variant | NM_016602.3(CCR10):c.709G>T (p.Ala237Ser) | Esophageal atresia [RCV000984723] | uncertain significance | 17 | 42679933 | 42679933 | Human | 1 | name |
| 156272755 | CV2283680 | single nucleotide variant | NM_016602.3(CCR10):c.1049C>T (p.Ser350Leu) | not specified [RCV004142214] | uncertain significance | 17 | 42679593 | 42679593 | Human | | name |
| 598205731 | CV3939888 | single nucleotide variant | NM_016602.3(CCR10):c.1028G>A (p.Arg343Gln) | not specified [RCV005314990] | uncertain significance | 17 | 42679614 | 42679614 | Human | | name |