LOC126862217[gene] - ClinVar

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Items: 24

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154848	GRCh38/hg38 15q22.2-26.3(chr15:59828460-101920998)x3	LOC130057927, LOC130057928 +1764 more	Copy number gain	See cases	GPathogenic
Select item 154952	GRCh38/hg38 15q23-26.3(chr15:72154949-101920998)x3	LOC116268473, LOC116268474 +1244 more	Copy number gain	See cases	GPathogenic
Select item 147691	GRCh38/hg38 15q25.2-26.3(chr15:82859676-101810992)x3	LOC130057943, LOC130057944 +664 more	Copy number gain	See cases	GPathogenic
Select item 146595	GRCh38/hg38 15q25.2-26.3(chr15:83711377-101843270)x3	LOC130057907, LOC130057908 +630 more	Copy number gain	See cases	GPathogenic
Select item 58580	GRCh38/hg38 15q25.2-26.3(chr15:84169153-101904929)x3	ABHD2, ACAN +611 more	Copy number gain	See cases	GPathogenic
Select item 153554	GRCh38/hg38 15q25.3-26.3(chr15:85397539-101888909)x3	ABHD2, ACAN +552 more	Copy number gain	See cases	GPathogenic
Select item 148189	GRCh38/hg38 15q25.3-26.3(chr15:85826665-101920998)x4	MIR11181, MIR1179 +517 more	Copy number gain	See cases	GPathogenic
Select item 146259	GRCh38/hg38 15q25.3-26.3(chr15:87904735-101843270)x3	LOC130057997, LOC130057998 +500 more	Copy number gain	See cases	GPathogenic
Select item 154660	GRCh38/hg38 15q26.1-26.3(chr15:88676575-98364743)x3	LOC130057929, LOC130057930 +311 more	Copy number gain	See cases	GPathogenic
Select item 58582	GRCh38/hg38 15q26.1-26.3(chr15:89679237-101978958)x3	ADAMTS17, ALDH1A3 +422 more	Copy number gain	See cases	GPathogenic
Select item 2598868	NM_001150.3(ANPEP):c.1128C>A (p.Ser376Arg)	ANPEP, LOC126862217 (S376R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2508687	NM_001150.3(ANPEP):c.1088G>A (p.Arg363Gln)	ANPEP, LOC126862217 (R363Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3127206	NM_001150.3(ANPEP):c.1069T>G (p.Trp357Gly)	ANPEP, LOC126862217 (W357G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2349980	NM_001150.3(ANPEP):c.992A>G (p.His331Arg)	ANPEP, LOC126862217 (H331R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1285898	NM_001150.3(ANPEP):c.963G>A (p.Thr321=)	ANPEP, LOC126862217	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2361791	NM_001150.3(ANPEP):c.958G>A (p.Val320Met)	ANPEP, LOC126862217 (V320M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1220916	NM_001150.3(ANPEP):c.954G>T (p.Leu318=)	ANPEP, LOC126862217	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2521693	NM_001150.3(ANPEP):c.946T>C (p.Tyr316His)	ANPEP, LOC126862217 (Y316H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3299294	NM_001150.3(ANPEP):c.943G>A (p.Asp315Asn)	ANPEP, LOC126862217 (D315N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3127217	NM_001150.3(ANPEP):c.941G>A (p.Gly314Asp)	ANPEP, LOC126862217 (G314D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1279989	NM_001150.3(ANPEP):c.932C>T (p.Ala311Val)	ANPEP, LOC126862217 (A311V)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3299305	NM_001150.3(ANPEP):c.929C>T (p.Ala310Val)	ANPEP, LOC126862217 (A310V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2511967	NM_001150.3(ANPEP):c.902G>A (p.Arg301Gln)	ANPEP, LOC126862217 (R301Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 759169	NM_001150.3(ANPEP):c.894C>G (p.Val298=)	ANPEP, LOC126862217	Single nucleotide variant (synonymous variant)	not provided	GLikely benign

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Items: 24