Related gene-specific medical variations for Gene (Select 56975) - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3068037	NM_020223.4(FAM20C):c.1331T>G (p.Val444Gly)	FAM20C (V444G)	Single nucleotide variant (missense variant)	Lethal osteosclerotic bone dysplasia	GLikely pathogenic
Select item 1676668	NG_033970.2:g.(8164_21328)_(21408_56449)del	FAM20C	Deletion	Lethal osteosclerotic bone dysplasia	GPathogenic
Select item 980816	GRCh37/hg19 7p22.3(chr7:154720-230772)x1	FAM20C	Copy number loss	not provided	GLikely benign
Select item 592028	NM_020223.4(FAM20C):c.1415C>T (p.Thr472Met)	FAM20C (T472M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 591158	NM_020223.4(FAM20C):c.346_347insT (p.Pro116fs)	FAM20C (P116fs)	Insertion (frameshift variant)	not provided	GUncertain significance
Select item 591157	NM_020223.4(FAM20C):c.344del (p.Glu115fs)	FAM20C (E115fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 563316	GRCh37/hg19 7p22.3(chr7:43360-230772)x1	FAM20C	Copy number loss	not provided	GUncertain significance
Select item 442041	GRCh37/hg19 7p22.3(chr7:43360-231132)x1	FAM20C	Copy number loss	See cases	GUncertain significance
Select item 154961	GRCh38/hg38 7p22.3(chr7:214514-229824)x1	FAM20C	Copy number loss	See cases	GBenign
Select item 153015	GRCh38/hg38 7p22.3(chr7:183570-229852)x3	FAM20C	Copy number gain	See cases	GBenign