"Fulgent Genetics, Fulgent Genetics"[submitter] AND "DCAF6"[gene] - ClinVar - NCBI

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

Search results

Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1168427	NM_018417.6(ADCY10):c.1260C>T (p.Tyr420=)	ADCY10, DCAF6	Single nucleotide variant (synonymous variant)	Familial idiopathic hypercalciuria +1 more	GBenign/Likely benign
Select item 947211	NM_018417.6(ADCY10):c.1139+6T>G	ADCY10, DCAF6	Single nucleotide variant (intron variant)	not provided +1 more	GUncertain significance
Select item 1403077	NM_018417.6(ADCY10):c.1025G>T (p.Cys342Phe)	ADCY10, DCAF6 (C189F +2 more)	Single nucleotide variant (missense variant)	Familial idiopathic hypercalciuria +1 more	GUncertain significance
Select item 1618519	NM_018417.6(ADCY10):c.1021-11C>T	ADCY10, DCAF6	Single nucleotide variant (intron variant)	Familial idiopathic hypercalciuria +1 more	GBenign/Likely benign
Select item 1168801	NM_018417.6(ADCY10):c.1020+20T>A	ADCY10, DCAF6	Single nucleotide variant (intron variant)	Familial idiopathic hypercalciuria +1 more	GBenign/Likely benign
Select item 1345495	NM_018417.6(ADCY10):c.758G>A (p.Cys253Tyr)	ADCY10, DCAF6 (C100Y +2 more)	Single nucleotide variant (missense variant)	Familial idiopathic hypercalciuria +1 more	GUncertain significance
Select item 1347665	NM_018417.6(ADCY10):c.349A>G (p.Thr117Ala)	ADCY10, DCAF6 (T25A +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1138998	NM_018417.6(ADCY10):c.324G>A (p.Glu108=)	ADCY10, DCAF6	Single nucleotide variant (synonymous variant +1 more)	Familial idiopathic hypercalciuria +1 more	GLikely benign
Select item 1049164	NM_018417.6(ADCY10):c.307G>T (p.Ala103Ser)	ADCY10, DCAF6 (A103S +1 more)	Single nucleotide variant (missense variant +1 more)	Familial idiopathic hypercalciuria	GUncertain significance
Select item 767724	NM_018417.6(ADCY10):c.254-19dup	ADCY10, DCAF6	Duplication (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 769249	NM_018417.6(ADCY10):c.254-6del	ADCY10, DCAF6	Deletion (intron variant)	not provided +1 more	GBenign
Select item 1052779	NM_018417.6(ADCY10):c.253+4A>G	ADCY10, DCAF6	Single nucleotide variant (intron variant)	not provided +1 more	GUncertain significance
Select item 1426702	NM_018417.6(ADCY10):c.229T>C (p.Tyr77His)	ADCY10, DCAF6 (Y77H)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided +1 more	GUncertain significance