26565[HGNC] - ClinVar - NCBI

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Items: 12

	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 152934	GRCh38/hg38 12q13.13-13.3(chr12:53420606-56202942)x3	PMEL, PPP1R1A +219 more	Copy number gain	See cases	GPathogenic
Select item 2316077	NM_144594.3(GTSF1):c.464C>T (p.Pro155Leu)	GPR84-AS1, GTSF1 (P155L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 709454	NM_144594.3(GTSF1):c.348C>T (p.Ser116=)	GPR84-AS1, GTSF1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 712120	NM_144594.3(GTSF1):c.329-10C>T	GPR84-AS1, GTSF1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3024514	NM_144594.3(GTSF1):c.221_222del (p.Arg74fs)	GPR84-AS1, GTSF1 (R74fs)	Deletion (frameshift variant)	Male infertility	GPathogenic
Select item 2336503	NM_144594.3(GTSF1):c.112A>G (p.Arg38Gly)	GPR84-AS1, GTSF1 (R38G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3024513	NM_144594.3(GTSF1):c.97C>A (p.His33Asn)	GPR84-AS1, GTSF1 (H33N)	Single nucleotide variant (missense variant)	Male infertility	GLikely pathogenic
Select item 2684674	GRCh37/hg19 12q13.13(chr12:54429002-54898430)x3	CBX5, COPZ1 +11 more	Copy number gain	not provided	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