LOC125138301[gene] - ClinVar - NCBI

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Items: 17

	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 58379	GRCh38/hg38 15q25.3(chr15:85185563-85639683)x3	AKAP13, LOC112272622 +29 more	Copy number gain	See cases	GUncertain significance
Select item 145300	GRCh38/hg38 15q25.3(chr15:85228050-85593726)x3	AKAP13, LOC112272622 +23 more	Copy number gain	See cases	GBenign
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 3280541	NM_007200.5(AKAP13):c.3385G>A (p.Val1129Ile)	AKAP13, LOC125138301 (V1129I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3280661	NM_007200.5(AKAP13):c.3407T>C (p.Leu1136Pro)	AKAP13, LOC125138301 (L1136P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2210050	NM_007200.5(AKAP13):c.3459A>G (p.Ile1153Met)	AKAP13, LOC125138301 (I1153M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2456804	NM_007200.5(AKAP13):c.3466G>A (p.Asp1156Asn)	AKAP13, LOC125138301 (D1156N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3280685	NM_007200.5(AKAP13):c.3473A>G (p.Glu1158Gly)	AKAP13, LOC125138301 (E1158G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3105352	NM_007200.5(AKAP13):c.3505T>C (p.Cys1169Arg)	AKAP13, LOC125138301 (C1169R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 778102	NM_007200.5(AKAP13):c.3525G>A (p.Glu1175=)	AKAP13, LOC125138301	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 2469970	NM_007200.5(AKAP13):c.3533A>G (p.Gln1178Arg)	AKAP13, LOC125138301 (Q1178R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3105357	NM_007200.5(AKAP13):c.3542A>G (p.Asp1181Gly)	AKAP13, LOC125138301 (D1181G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance