YAF2[gene] and "single gene"[properties] - ClinVar - NCBI

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Items: 14

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2293203	NM_005748.6(YAF2):c.512A>G (p.Glu171Gly)	YAF2 (E129G +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2324507	NM_005748.6(YAF2):c.494C>T (p.Ser165Leu)	YAF2 (S156L +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2302675	NM_005748.6(YAF2):c.487T>C (p.Ser163Pro)	YAF2 (S154P +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3191398	NM_005748.6(YAF2):c.454G>A (p.Gly152Ser)	YAF2 (G110S +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2494527	NM_005748.6(YAF2):c.380T>C (p.Ile127Thr)	YAF2 (I151T +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3333614	NM_005748.6(YAF2):c.263A>T (p.Glu88Val)	YAF2 (E112V +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2327494	NM_005748.6(YAF2):c.152+27000T>C	YAF2 (I58T)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3191397	NM_005748.6(YAF2):c.152+26991T>C	YAF2 (F55S)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2642901	NM_005748.6(YAF2):c.152+1701G>A	YAF2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2513550	NM_005748.6(YAF2):c.119T>C (p.Met40Thr)	YAF2 (M40T)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 3191396	NM_005748.6(YAF2):c.100G>C (p.Ala34Pro)	YAF2 (A34P)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2288703	NM_005748.6(YAF2):c.61G>A (p.Gly21Ser)	YAF2 (G21S)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 3333613	NM_005748.6(YAF2):c.53C>T (p.Ser18Leu)	YAF2 (S18L)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 815522	GRCh37/hg19 12q12(chr12:42603886-42673244)x1	YAF2	Copy number loss	not provided	GUncertain significance