YAF2[gene] - ClinVar

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

Search results

Items: 31

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	ACAD10, ACADS +4836 more	Copy number gain	See cases	GPathogenic
Select item 149635	GRCh38/hg38 12q12-13.11(chr12:40713887-46551900)x1	ADAMTS20, ANO6 +113 more	Copy number loss	See cases	GPathogenic
Select item 144217	GRCh38/hg38 12q12(chr12:41782886-42950380)x1	GXYLT1, LINC02402 +33 more	Copy number loss	See cases	GUncertain significance
Select item 549636	NC_000012.12:g.42127457_42199952dup	GXYLT1, LOC129390439 +4 more	Duplication	Primary amenorrhea	GLikely benign
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 2373483	NM_005748.6(YAF2):c.23C>T (p.Thr8Ile)	LOC130007695, YAF2 (T8I)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3063272	GRCh37/hg19 12q12-13.11(chr12:38258635-48235837)x3	ABCD2, ADAMTS20 +34 more	Copy number gain	not specified	GPathogenic
Select item 2684671	GRCh37/hg19 12q12(chr12:42479450-42890970)x3	GXYLT1, PPHLN1 +3 more	Copy number gain	not provided	GUncertain significance
Select item 1809396	GRCh37/hg19 12q12(chr12:39560669-43285298)x1	ABCD2, C12orf40 +11 more	Copy number loss	not provided	GUncertain significance
Select item 1527702	GRCh37/hg19 12q11-13.12(chr12:37857750-49791459)	ABCD2, ADAMTS20 +72 more	Copy number gain	not specified	GPathogenic
Select item 1048618	GRCh37/hg19 12q11-13.12(chr12:37873948-49578619)x3	PPHLN1, PRICKLE1 +66 more	Copy number gain	See cases	GLikely pathogenic
Select item 979961	GRCh37/hg19 12q12(chr12:40678619-43945453)x4	PRICKLE1, GXYLT1 +8 more	Copy number gain	not provided	GUncertain significance
Select item 815522	GRCh37/hg19 12q12(chr12:42603886-42673244)x1	YAF2	Copy number loss	not provided	GUncertain significance
Select item 560125	Single allele	CNTN1, GXYLT1 +8 more	Duplication	not provided	GUncertain significance
Select item 524190	NC_000012.11:g.26370251_54361538inv	BICD1, HDAC7 +212 more	Inversion	not specified	GUncertain significance
Select item 441984	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)	SLC15A5, SLC16A7 +1006 more	Copy number gain	See cases	GPathogenic
Select item 441983	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3	A2M, A2ML1 +1006 more	Copy number gain	See cases	GPathogenic
Select item 268075	GRCh37/hg19 12p13.33-q24.33(chr12:1-133851895)x3	GALNT8, H2AJ +1007 more	Copy number gain	See cases	GPathogenic
Select item 221992	GRCh37/hg19 12p11.21-q13.12(chr12:31886971-50360461)x3	ABCD2, ADAMTS20 +92 more	Copy number gain	See cases	GPathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 31