| 15104547 | CV722006 | single nucleotide variant | NM_012391.3(SPDEF):c.144C>T (p.Pro48=) | not provided [RCV000892907] | benign | 6 | 34544312 | 34544312 | Human | | name |
| 156257577 | CV2204592 | single nucleotide variant | NM_012391.3(SPDEF):c.71C>T (p.Ser24Leu) | not specified [RCV004081700] | likely benign | 6 | 34544385 | 34544385 | Human | | name |
| 155909585 | CV2359835 | single nucleotide variant | NM_012391.3(SPDEF):c.31G>A (p.Val11Ile) | not specified [RCV004212689] | uncertain significance | 6 | 34544425 | 34544425 | Human | | name |
| 329382652 | CV2424512 | single nucleotide variant | NM_012391.3(SPDEF):c.65C>T (p.Thr22Met) | not specified [RCV004252397] | uncertain significance | 6 | 34544391 | 34544391 | Human | | name |
| 329368142 | CV2457069 | single nucleotide variant | NM_012391.3(SPDEF):c.98C>T (p.Ala33Val) | not specified [RCV004264854] | uncertain significance | 6 | 34544358 | 34544358 | Human | | name |
| 401920605 | CV2822976 | single nucleotide variant | NM_012391.3(SPDEF):c.906C>T (p.Tyr302=) | not provided [RCV003431819] | likely benign | 6 | 34538376 | 34538376 | Human | | name |
| 598262564 | CV3919050 | single nucleotide variant | NM_012391.3(SPDEF):c.56C>T (p.Pro19Leu) | not specified [RCV005280218] | uncertain significance | 6 | 34544400 | 34544400 | Human | | name |
| 15135803 | CV710464 | single nucleotide variant | NM_012391.3(SPDEF):c.504G>C (p.Leu168=) | not provided [RCV000965346] | benign | 6 | 34541114 | 34541114 | Human | | name |
| 156143729 | CV2358598 | single nucleotide variant | NM_012391.3(SPDEF):c.229G>T (p.Ala77Ser) | not specified [RCV004207475] | uncertain significance | 6 | 34544227 | 34544227 | Human | | name |
| 401887599 | CV2773536 | single nucleotide variant | NM_012391.3(SPDEF):c.134C>A (p.Pro45His) | not specified [RCV004355947] | uncertain significance | 6 | 34544322 | 34544322 | Human | | name |
| 405716751 | CV3326657 | single nucleotide variant | NM_012391.3(SPDEF):c.214A>G (p.Ser72Gly) | not specified [RCV004462608] | uncertain significance | 6 | 34544242 | 34544242 | Human | | name |
| 405716758 | CV3326658 | single nucleotide variant | NM_012391.3(SPDEF):c.247C>T (p.Arg83Trp) | not specified [RCV004462609] | uncertain significance | 6 | 34544209 | 34544209 | Human | | name |
| 405716765 | CV3326659 | single nucleotide variant | NM_012391.3(SPDEF):c.281C>T (p.Pro94Leu) | not specified [RCV004462610] | uncertain significance | 6 | 34544175 | 34544175 | Human | | name |
| 407510944 | CV3481623 | single nucleotide variant | NM_012391.3(SPDEF):c.232C>T (p.Pro78Ser) | not specified [RCV004672936] | uncertain significance | 6 | 34544224 | 34544224 | Human | | name |
| 597767963 | CV3608117 | single nucleotide variant | NM_012391.3(SPDEF):c.260C>T (p.Pro87Leu) | not specified [RCV004870939] | uncertain significance | 6 | 34544196 | 34544196 | Human | | name |
| 597767968 | CV3608118 | single nucleotide variant | NM_012391.3(SPDEF):c.233C>T (p.Pro78Leu) | not specified [RCV004870940] | uncertain significance | 6 | 34544223 | 34544223 | Human | | name |
| 156241633 | CV2246142 | single nucleotide variant | NM_012391.3(SPDEF):c.919C>A (p.Arg307Ser) | not specified [RCV004114042] | uncertain significance | 6 | 34538363 | 34538363 | Human | | name |
| 156198440 | CV2255901 | single nucleotide variant | NM_012391.3(SPDEF):c.674A>G (p.His225Arg) | not specified [RCV004122361] | uncertain significance | 6 | 34539523 | 34539523 | Human | | name |
| 156043339 | CV2307916 | single nucleotide variant | NM_012391.3(SPDEF):c.328G>A (p.Gly110Ser) | not specified [RCV004170369] | uncertain significance | 6 | 34544128 | 34544128 | Human | | name |
| 329375073 | CV2431366 | single nucleotide variant | NM_012391.3(SPDEF):c.865C>T (p.Arg289Trp) | not specified [RCV004252917] | uncertain significance | 6 | 34538417 | 34538417 | Human | | name |
| 329397724 | CV2456521 | single nucleotide variant | NM_012391.3(SPDEF):c.581G>T (p.Arg194Leu) | not specified [RCV004275661] | uncertain significance | 6 | 34541037 | 34541037 | Human | | name |
| 401726503 | CV2674162 | single nucleotide variant | NM_012391.3(SPDEF):c.779T>A (p.Leu260His) | not specified [RCV004295563] | uncertain significance | 6 | 34539300 | 34539300 | Human | | name |
| 401858775 | CV2774399 | single nucleotide variant | NM_012391.3(SPDEF):c.508C>G (p.Pro170Ala) | not specified [RCV004347739] | uncertain significance | 6 | 34541110 | 34541110 | Human | | name |
| 405716774 | CV3326660 | single nucleotide variant | NM_012391.3(SPDEF):c.427A>G (p.Ile143Val) | not specified [RCV004462611] | uncertain significance | 6 | 34544029 | 34544029 | Human | | name |
| 405716780 | CV3326661 | single nucleotide variant | NM_012391.3(SPDEF):c.560C>T (p.Ser187Leu) | not specified [RCV004462612] | uncertain significance | 6 | 34541058 | 34541058 | Human | | name |
| 405716790 | CV3326662 | single nucleotide variant | NM_012391.3(SPDEF):c.652C>T (p.Arg218Trp) | not specified [RCV004462613] | uncertain significance | 6 | 34539545 | 34539545 | Human | | name |
| 405716798 | CV3326663 | single nucleotide variant | NM_012391.3(SPDEF):c.659C>T (p.Ser220Leu) | not specified [RCV004462614] | uncertain significance | 6 | 34539538 | 34539538 | Human | | name |
| 405716803 | CV3326664 | single nucleotide variant | NM_012391.3(SPDEF):c.664G>A (p.Gly222Arg) | not specified [RCV004462615] | uncertain significance | 6 | 34539533 | 34539533 | Human | | name |
| 405716821 | CV3326666 | single nucleotide variant | NM_012391.3(SPDEF):c.889C>T (p.Arg297Cys) | not specified [RCV004462617] | uncertain significance | 6 | 34538393 | 34538393 | Human | | name |
| 407510947 | CV3481624 | single nucleotide variant | NM_012391.3(SPDEF):c.653G>A (p.Arg218Gln) | not specified [RCV004672937] | uncertain significance | 6 | 34539544 | 34539544 | Human | | name |
| 597742651 | CV3608116 | single nucleotide variant | NM_012391.3(SPDEF):c.536C>T (p.Ala179Val) | not specified [RCV004865124] | uncertain significance | 6 | 34541082 | 34541082 | Human | | name |
| 598262567 | CV3919051 | single nucleotide variant | NM_012391.3(SPDEF):c.553G>A (p.Ala185Thr) | not specified [RCV005280219] | uncertain significance | 6 | 34541065 | 34541065 | Human | | name |