Total 18 pathogenic variants reported for Split hand-foot malformation 6

Variant Name	Variant Type	Variant Genomic Location	Clinical Significance	Phenotype Condition	Review Status	ClinGen Allele	dbSNP ID	Variation/condition record
NM_003394.4(WNT10B):c.994C>T (p.Arg332Trp)	SNV Germline	Chr12:48966271	Pathogenic	Split hand-foot malformation 6 Condition: not provided	Criteria Provided Single Submitter	CA118933	rs_121918349	2 SubmittersRCV000008069 RCV003555964
NM_003394.4(WNT10B):c.676C>T (p.Arg226Ter)	SNV Germline	Chr12:48967981	Pathogenic	Split hand-foot malformation 6 WNT10B-related disorder	Criteria Provided Single Submitter	CA6544127	rs_763991433	4 SubmittersRCV000625580 RCV004758043
NM_003394.4(WNT10B):c.338-1G>C	SNV Germline	Chr12:48968320	Pathogenic/Likely pathogenic	Split hand-foot malformation 6	Criteria Provided Multiple Submitters No Conflicts	CA384678851	rs_1163162816	4 SubmittersRCV000656339
NM_003394.4(WNT10B):c.949T>A (p.Phe317Ile)	SNV Germline	Chr12:48966316	Likely pathogenic	Split hand-foot malformation 6	No Assertion Criteria Provided	CA384672375	rs_1231016571	1 SubmittersRCV000785183
NM_003394.4(WNT10B):c.746G>T (p.Cys249Phe)	SNV Germline	Chr12:48966519	Likely pathogenic	Split hand-foot malformation 6	No Assertion Criteria Provided	CA384673815	rs_1565715468	1 SubmittersRCV000785181
NM_003394.4(WNT10B):c.257A>C (p.Gln86Pro)	SNV Germline	Chr12:48970169	Likely pathogenic	Split hand-foot malformation 6	No Assertion Criteria Provided	CA384681435	rs_1592252556	1 SubmittersRCV001027401
NM_003394.4(WNT10B):c.53T>A (p.Leu18Gln)	SNV Germline	Chr12:48970477	Likely pathogenic	Split hand-foot malformation 6	Criteria Provided Single Submitter	CA384683668	rs_561483849	1 SubmittersRCV003228717
NM_003394.4(WNT10B):c.115G>T (p.Glu39Ter)	SNV Germline	Chr12:48970311	Likely pathogenic	Split hand-foot malformation 6	Criteria Provided Single Submitter	CA384683065	rs_2137615131	1 SubmittersRCV003447696
NM_003394.4(WNT10B):c.343C>T (p.Arg115Ter)	SNV Germline	Chr12:48968314	Pathogenic	Split hand-foot malformation 6	Criteria Provided Single Submitter			1 SubmittersRCV004788219
NM_003394.4(WNT10B):c.638T>G (p.Phe213Cys)	SNV Germline	Chr12:48968019	Likely pathogenic	Split hand-foot malformation 6	Criteria Provided Single Submitter			1 SubmittersRCV004813560