ClinVar for Gene (Select 10138) - ClinVar

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Links from Gene

Items: 29

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 3191397	NM_005748.6(YAF2):c.152+26991T>C	YAF2 (F55S)	Single nucleotide variant (missense variant +2 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 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 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 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 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 2327494	NM_005748.6(YAF2):c.152+27000T>C	YAF2 (I58T)	Single nucleotide variant (missense variant +2 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 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 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 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 549636	NC_000012.12:g.42127457_42199952dup	GXYLT1, LOC129390439 +4 more	Duplication	Primary amenorrhea	GLikely benign
Select item 524190	NC_000012.11:g.26370251_54361538inv	AAAS, ABCD2 +212 more	Inversion	not specified	GUncertain significance
Select item 441984	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)	A2M, A2ML1 +1006 more	Copy number gain	See cases	GPathogenic
Select item 441983	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3	DBX2, DCD +1006 more	Copy number gain	See cases	GPathogenic
Select item 268075	GRCh37/hg19 12p13.33-q24.33(chr12:1-133851895)x3	AGAP2, ARF3 +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
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	LOC130008916, LOC130008917 +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

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Links from Gene

Items: 29