20593[HGNC] - ClinVar

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Items: 57

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 151339	GRCh38/hg38 15q15.1(chr15:41697762-42489559)x3	CAPN3, EHD4 +44 more	Copy number gain	See cases	GUncertain significance
Select item 57437	GRCh38/hg38 15q15.1(chr15:41865122-42329484)x3	EHD4, EHD4-AS1 +31 more	Copy number gain	See cases	GUncertain significance
Select item 3188957	NM_015289.5(VPS39):c.2623A>T (p.Thr875Ser)	VPS39 (T875S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2375938	NM_015289.5(VPS39):c.2573A>G (p.Asn858Ser)	VPS39 (N858S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2692455	NM_015289.5(VPS39):c.2522G>T (p.Cys841Phe)	VPS39 (C841F +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3188956	NM_015289.5(VPS39):c.2474G>A (p.Arg825Gln)	VPS39 (R825Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2456448	NM_015289.5(VPS39):c.2369G>A (p.Arg790His)	VPS39 (R801H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3188955	NM_015289.5(VPS39):c.2362G>C (p.Asp788His)	VPS39 (D799H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2343049	NM_015289.5(VPS39):c.2362G>A (p.Asp788Asn)	VPS39 (D788N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2602733	NM_015289.5(VPS39):c.2278G>A (p.Ala760Thr)	VPS39 (A760T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2334795	NM_015289.5(VPS39):c.2186C>T (p.Ser729Phe)	VPS39 (S729F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3332268	NM_015289.5(VPS39):c.2101A>T (p.Ile701Phe)	VPS39 (I701F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2322481	NM_015289.5(VPS39):c.2081C>G (p.Ala694Gly)	VPS39 (A705G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2313351	NM_015289.5(VPS39):c.2062A>G (p.Met688Val)	VPS39 (M688V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2456485	NM_015289.5(VPS39):c.2060G>A (p.Arg687His)	VPS39 (R698H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2310327	NM_015289.5(VPS39):c.2012A>G (p.Asp671Gly)	VPS39 (D682G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3188954	NM_015289.5(VPS39):c.1919G>T (p.Gly640Val)	VPS39 (G640V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3188953	NM_015289.5(VPS39):c.1916C>A (p.Ala639Asp)	VPS39 (A650D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3188952	NM_015289.5(VPS39):c.1915G>A (p.Ala639Thr)	VPS39 (A639T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2610216	NM_015289.5(VPS39):c.1904C>G (p.Thr635Ser)	VPS39 (T635S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2610215	NM_015289.5(VPS39):c.1903A>C (p.Thr635Pro)	VPS39 (T635P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3332267	NM_015289.5(VPS39):c.1810G>A (p.Gly604Ser)	VPS39 (G604S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2557223	NM_015289.5(VPS39):c.1810G>C (p.Gly604Arg)	VPS39 (G615R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2370948	NM_015289.5(VPS39):c.1735G>A (p.Gly579Ser)	VPS39 (G590S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2307588	NM_015289.5(VPS39):c.1534G>A (p.Val512Met)	VPS39 (V512M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2269450	NM_015289.5(VPS39):c.1384G>A (p.Val462Met)	VPS39 (V473M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3188951	NM_015289.5(VPS39):c.1367G>A (p.Cys456Tyr)	VPS39 (C467Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2266706	NM_015289.5(VPS39):c.1333C>A (p.Leu445Met)	VPS39 (L445M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2271731	NM_015289.5(VPS39):c.1328A>G (p.Lys443Arg)	VPS39 (K454R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2555997	NM_015289.5(VPS39):c.1274A>C (p.His425Pro)	VPS39 (H425P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2645236	NM_015289.5(VPS39):c.1213C>T (p.Leu405=)	VPS39	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3332270	NM_015289.5(VPS39):c.968A>C (p.Lys323Thr)	VPS39 (K323T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2235432	NM_015289.5(VPS39):c.860C>G (p.Ala287Gly)	VPS39 (A287G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2352433	NM_015289.5(VPS39):c.846C>A (p.Asn282Lys)	VPS39 (N282K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2610844	NM_015289.5(VPS39):c.782C>T (p.Pro261Leu)	VPS39 (P261L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3332269	NM_015289.5(VPS39):c.739A>G (p.Ile247Val)	VPS39 (I258V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2373405	NM_015289.5(VPS39):c.727C>T (p.Pro243Ser)	VPS39 (P254S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2622306	NM_015289.5(VPS39):c.682T>A (p.Cys228Ser)	VPS39 (C239S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2536811	NM_015289.5(VPS39):c.632A>G (p.Gln211Arg)	VPS39 (Q211R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2315353	NM_015289.5(VPS39):c.617A>G (p.Lys206Arg)	VPS39 (K206R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3332266	NM_015289.5(VPS39):c.453T>G (p.Ser151Arg)	VPS39 (S151R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2674598	NM_015289.5(VPS39):c.442-2A>G	VPS39	Single nucleotide variant (splice acceptor variant)	Cerebellar ataxia	GUncertain significance
Select item 3188959	NM_015289.5(VPS39):c.370C>T (p.Arg124Trp)	VPS39 (R124W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 714530	NM_015289.5(VPS39):c.351G>A (p.Glu117=)	VPS39	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3188958	NM_015289.5(VPS39):c.316G>A (p.Ala106Thr)	VPS39 (A106T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2249287	NM_015289.5(VPS39):c.182A>C (p.Asn61Thr)	VPS39 (N61T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2316239	NM_015289.5(VPS39):c.128G>A (p.Arg43Gln)	VPS39 (R43Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063379	GRCh37/hg19 15q11.2-21.2(chr15:22770421-50347130)x3	ACTC1, ADAL +200 more	Copy number gain	not specified	GPathogenic
Select item 2671612	Single allele	ADAL, AFG2B +103 more	Deletion	not provided	GPathogenic
Select item 1024934	NC_000015.9:g.(?_32964879)_(91358519_?)dup	CGNL1, MAPDA +472 more	Duplication	Familial colorectal cancer +1 more	GUncertain significance
Select item 980031	GRCh37/hg19 15q15.1(chr15:41869275-42484890)x3	MGA, PLA2G4F +9 more	Copy number gain	not provided	GLikely benign
Select item 560049	Single allele	PDIA3, PEAK1 +521 more	Duplication	not provided	GPathogenic
Select item 442893	GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112)x3	AAGAB, ABHD17C +559 more	Copy number gain	See cases	GPathogenic
Select item 442892	GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112)	NOX5, NPAP1 +559 more	Copy number gain	See cases	GPathogenic
Select item 395389	GRCh37/hg19 15q15.1-21.2(chr15:41689327-52446981)x1	ADAL, AFG2B +107 more	Copy number loss	See cases	GPathogenic
Select item 395145	GRCh37/hg19 15q11.2-26.3(chr15:20733395-102511616)x4	CHRFAM7A, CHRM5 +566 more	Copy number gain	See cases	GPathogenic
Select item 394887	GRCh37/hg19 15q15.1-26.3(chr15:41745084-102354798)x4	ALDH1A2, ALDH1A3 +444 more	Copy number gain	See cases	GPathogenic

ClinVar

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Items: 57