Related gene-specific medical variations for Gene (Select 57466) - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3359808	NM_020706.2(SCAF4):c.3308T>G (p.Val1103Gly)	SCAF4 (V1081G +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3359555	NM_020706.2(SCAF4):c.1006C>G (p.Gln336Glu)	SCAF4 (Q321E +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3061099	NM_020706.2(SCAF4):c.8C>T (p.Ala3Val)	SCAF4, LOC130066536 (A3V)	Single nucleotide variant (missense variant)	SCAF4-related disorder	GUncertain significance
Select item 2775440	NM_020706.2(SCAF4):c.160-1G>A	SCAF4	Single nucleotide variant (splice acceptor variant)	Fliedner-Zweier syndrome	GLikely pathogenic
Select item 2685662	GRCh37/hg19 21q22.11(chr21:33102585-33158962)x1	SCAF4	Copy number loss	not provided	GUncertain significance
Select item 2502704	NM_020706.2(SCAF4):c.26A>G (p.Gln9Arg)	LOC130066536, SCAF4 (Q9R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1695592	NM_020706.2(SCAF4):c.-4G>A	LOC130066536, SCAF4	Single nucleotide variant (5 prime UTR variant)	not provided	GUncertain significance
Select item 1676395	NM_020706.2(SCAF4):c.2431C>T (p.Pro811Ser)	SCAF4 (P789S +2 more)	Single nucleotide variant	not provided	GUncertain significance
Select item 1184957	NM_020706.2(SCAF4):c.1378C>T (p.Arg460Ter)	SCAF4 (R445* +1 more)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 987155	NM_020706.2(SCAF4):c.2375del (p.Ala792fs)	SCAF4 (A770fs +2 more)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 92007	NM_020706.2(SCAF4):c.1518C>T (p.Cys506=)	SCAF4	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance