Related gene-specific medical variations for Gene (Select 54854) - ClinVar - NCBI

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

Links from Gene

Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3321740	NM_133498.3(SPACA4):c.56G>T (p.Gly19Val)	FAM83E, SPACA4 (G19V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3167988	NM_133498.3(SPACA4):c.53C>T (p.Thr18Met)	FAM83E, SPACA4 (T18M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3167987	NM_133498.3(SPACA4):c.277G>A (p.Gly93Ser)	FAM83E, SPACA4 (G93S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2380034	NM_133498.3(SPACA4):c.146C>T (p.Thr49Ile)	FAM83E, SPACA4 (T49I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2330744	NM_133498.3(SPACA4):c.50C>T (p.Thr17Met)	FAM83E, SPACA4 (T17M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2325709	NM_133498.3(SPACA4):c.157G>T (p.Val53Phe)	FAM83E, SPACA4 (V53F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2278697	NM_133498.3(SPACA4):c.58G>A (p.Val20Ile)	FAM83E, SPACA4 (V20I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2243682	NM_133498.3(SPACA4):c.350T>C (p.Met117Thr)	FAM83E, SPACA4 (M117T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2238066	NM_133498.3(SPACA4):c.359C>T (p.Pro120Leu)	FAM83E, SPACA4 (P120L)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign