"PreventionGenetics, part of Exact Sciences"[submitter] AND "SCAF4"[ge - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2637218	NM_020706.2(SCAF4):c.3426del (p.Ala1143fs)	SCAF4 (A1121fs +2 more)	Deletion (frameshift variant)	SCAF4-related disorder	GUncertain significance
Select item 3031204	NM_020706.2(SCAF4):c.2877_2888del (p.Gln963_Gln966del)	SCAF4	Deletion (inframe deletion)	SCAF4-related disorder	GUncertain significance
Select item 3038324	NM_020706.2(SCAF4):c.2748T>C (p.Val916=)	SCAF4	Single nucleotide variant (synonymous variant)	SCAF4-related disorder	GBenign
Select item 2652588	NM_020706.2(SCAF4):c.2287A>C (p.Ile763Leu)	SCAF4 (I748L +1 more)	Single nucleotide variant (missense variant)	SCAF4-related disorder +1 more	GLikely benign
Select item 3043589	NM_020706.2(SCAF4):c.2209+1G>A	SCAF4	Single nucleotide variant (splice donor variant)	SCAF4-related disorder	GUncertain significance
Select item 2632229	NM_020706.2(SCAF4):c.1465_1466del (p.Glu489fs)	SCAF4 (E474fs +1 more)	Microsatellite (frameshift variant)	SCAF4-related disorder	GLikely pathogenic
Select item 3030101	NM_020706.2(SCAF4):c.1322+2dup	SCAF4	Duplication (splice donor variant)	SCAF4-related disorder	GUncertain significance
Select item 2634005	NM_020706.2(SCAF4):c.959+1G>T	SCAF4	Single nucleotide variant (splice donor variant)	SCAF4-related disorder	GLikely pathogenic
Select item 2628910	NM_020706.2(SCAF4):c.839_840del (p.Glu280fs)	SCAF4 (E265fs +1 more)	Microsatellite (frameshift variant)	SCAF4-related disorder	GLikely pathogenic
Select item 2634613	NM_020706.2(SCAF4):c.226C>G (p.Gln76Glu)	SCAF4 (Q61E +1 more)	Single nucleotide variant (missense variant)	SCAF4-related disorder	GUncertain significance
Select item 3061099	NM_020706.2(SCAF4):c.8C>T (p.Ala3Val)	LOC130066536, SCAF4 (A3V)	Single nucleotide variant (missense variant)	SCAF4-related disorder	GUncertain significance