Total 9 pathogenic variants reported for Lacrimoauriculodentodigital syndrome

Variant Name	Variant Type	Variant Genomic Location	Clinical Significance	Phenotype Condition	Review Status	ClinGen Allele	dbSNP ID	Variation/condition record
NM_004465.2(FGF10):c.317G>T (p.Cys106Phe)	SNV Germline	Chr5:44388366	Pathogenic	Lacrimoauriculodentodigital syndrome 3	No Assertion Criteria Provided	CA118868	rs_104893885	1 SubmittersRCV003151710
NM_004465.2(FGF10):c.467T>G (p.Ile156Arg)	SNV Germline	Chr5:44305155	Pathogenic	Lacrimoauriculodentodigital syndrome 3	No Assertion Criteria Provided	CA118869	rs_104893886	1 SubmittersRCV003151711
NM_004465.2(FGF10):c.409A>T (p.Lys137Ter)	SNV Germline	Chr5:44310447	Pathogenic	Congenital absence of salivary gland Lacrimoauriculodentodigital syndrome 3	No Assertion Criteria Provided	CA118870	rs_104893887	1 SubmittersRCV000007968 RCV003151712
NM_000142.5(FGFR3):c.1882G>A (p.Asp628Asn)	SNV Germline	Chr4:1806096	Conflicting classifications of pathogenicity	Condition: not provided Lacrimoauriculodentodigital syndrome 2	Criteria Provided Conflicting Classifications	CA355982386	rs_1453271838	3 SubmittersRCV004597852 RCV004559335
NM_004465.2(FGF10):c.610A>G (p.Met204Val)	SNV Germline	Chr5:44305012	Conflicting classifications of pathogenicity	Congenital absence of salivary gland Condition: not provided Congenital absence of salivary gland Lacrimoauriculodentodigital syndrome 3	Criteria Provided Conflicting Classifications	CA3258478	rs_150695565	4 SubmittersRCV001157920 RCV002275300 RCV005394772
NM_004465.2(FGF10):c.64T>C (p.Cys22Arg)	SNV Germline	Chr5:44388619	Conflicting classifications of pathogenicity	Condition: not provided Congenital absence of salivary gland Lacrimoauriculodentodigital syndrome 3 Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA3258583	rs_200247528	3 SubmittersRCV003087064 RCV005034702 RCV003161840
NM_004465.2(FGF10):c.237G>A (p.Trp79Ter)	SNV Germline	Chr5:44388446	Pathogenic	Lacrimoauriculodentodigital syndrome 3	No Assertion Criteria Provided	CA359699363	rs_2478542924	1 SubmittersRCV003445414
NM_004465.2(FGF10):c.324C>A (p.Tyr108Ter)	SNV Unknown	Chr5:44388359	Likely pathogenic	Lacrimoauriculodentodigital syndrome 3	Criteria Provided Single Submitter			1 SubmittersRCV005623255