LOC110386951[gene] - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146334	GRCh38/hg38 15q21.1-21.2(chr15:47460844-52494222)x1	AP4E1, ATP8B4 +190 more	Copy number loss	See cases	GPathogenic
Select item 57881	GRCh38/hg38 15q21.2-22.2(chr15:50864913-59646577)x1	ADAM10, ALDH1A2 +287 more	Copy number loss	See cases	GPathogenic
Select item 509947	NM_000103.4(CYP19A1):c.42C>G (p.Thr14=)	CYP19A1, LOC110386951 +2 more	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 990920	NM_000103.4(CYP19A1):c.41C>T (p.Thr14Ile)	CYP19A1, LOC110386951 +2 more (T14I)	Single nucleotide variant (missense variant)	Aromatase deficiency	GUncertain significance
Select item 2016794	NM_000103.4(CYP19A1):c.33T>C (p.Tyr11=)	CYP19A1, LOC110386951 +2 more	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 765780	NM_000103.4(CYP19A1):c.24G>A (p.Pro8=)	CYP19A1, LOC110386951 +2 more	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1085435	NM_000103.4(CYP19A1):c.21C>T (p.Asn7=)	CYP19A1, LOC110386951 +2 more	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1948761	NM_000103.4(CYP19A1):c.16C>T (p.Leu6=)	CYP19A1, LOC110386951 +2 more	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1292659	NM_000103.4(CYP19A1):c.-38-45C>A	CYP19A1, LOC110386951 +2 more	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 1202950	NM_000103.4(CYP19A1):c.-38-109A>C	MIR4713HG, PIRC66 +2 more	Single nucleotide variant (intron variant +1 more)	not provided	GLikely benign
Select item 1170825	NM_000103.4(CYP19A1):c.-38-994A>C	CYP19A1, LOC110386951 +2 more	Single nucleotide variant (intron variant)	not provided	GBenign