LOC130057951[gene] - ClinVar - NCBI

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Items: 14

	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 3104676	NM_001286451.2(HDDC3):c.394C>A (p.Arg132Ser)	HDDC3, LOC130057951 +1 more (R132S)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3104675	NM_001286451.2(HDDC3):c.392A>G (p.Asn131Ser)	HDDC3, LOC130057951 +1 more (N131S)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2483679	NM_001286451.2(HDDC3):c.332G>A (p.Ser111Asn)	HDDC3, LOC130057951 +1 more (S111N)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3283721	NM_001286451.2(HDDC3):c.290A>G (p.Lys97Arg)	HDDC3, LOC130057951 +1 more (K97R)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance