ClinVar for Gene (Select 161779) - ClinVar

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Links from Gene

Items: 59

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3305970	NM_152595.5(PGBD4):c.1269T>G (p.Asp423Glu)	PGBD4 (D423E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3305969	NM_152595.5(PGBD4):c.1636T>G (p.Ser546Ala)	PGBD4 (S546A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3305968	NM_152595.5(PGBD4):c.1750A>G (p.Asn584Asp)	PGBD4 (N584D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3211769	NM_152595.5(PGBD4):c.991G>C (p.Asp331His)	PGBD4 (D331H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3211768	NM_152595.5(PGBD4):c.1693G>A (p.Glu565Lys)	PGBD4 (E565K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3211766	NM_152595.5(PGBD4):c.1499C>T (p.Pro500Leu)	PGBD4 (P500L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3211765	NM_152595.5(PGBD4):c.1355A>G (p.Tyr452Cys)	PGBD4 (Y452C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3211764	NM_152595.5(PGBD4):c.1331A>G (p.Glu444Gly)	PGBD4 (E444G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3211763	NM_152595.5(PGBD4):c.1201A>G (p.Asn401Asp)	PGBD4 (N401D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3211762	NM_152595.5(PGBD4):c.1157A>G (p.Lys386Arg)	PGBD4 (K386R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063381	GRCh37/hg19 15q11.2-14(chr15:22836883-39108014)x1	ACTC1, APBA2 +72 more	Copy number loss	not specified	GPathogenic
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 3024374	GRCh38/hg38 15q13.3-14(chr15:32640661-34525062)	ARHGAP11A-SCG5, AVEN +62 more	Copy number gain	Autism spectrum disorder	GUncertain significance
Select item 2685508	GRCh37/hg19 15q13.3-14(chr15:32914240-34671790)x1	AVEN, CHRM5 +13 more	Copy number loss	not provided	GUncertain significance
Select item 2685507	GRCh37/hg19 15q13.3-14(chr15:32914239-34780626)x1	ARHGAP11A, AVEN +13 more	Copy number loss	not provided	GUncertain significance
Select item 2684748	GRCh37/hg19 15q11.2-14(chr15:22770422-36556562)x3	ACTC1, APBA2 +65 more	Copy number gain	not provided	GPathogenic
Select item 2542892	NM_152595.5(PGBD4):c.540G>T (p.Arg180Ser)	PGBD4 (R180S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2538915	NM_152595.5(PGBD4):c.1160G>T (p.Trp387Leu)	PGBD4 (W387L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2496151	NM_152595.5(PGBD4):c.28C>T (p.Pro10Ser)	PGBD4 (P10S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2490973	NM_152595.5(PGBD4):c.1490A>T (p.His497Leu)	PGBD4 (H497L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2481443	NM_152595.5(PGBD4):c.551A>G (p.Asp184Gly)	PGBD4 (D184G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2464199	NM_152595.5(PGBD4):c.1333C>T (p.Arg445Cys)	PGBD4 (R445C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2385181	NM_152595.5(PGBD4):c.4T>A (p.Ser2Thr)	PGBD4 (S2T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2370941	NM_152595.5(PGBD4):c.1523G>A (p.Arg508His)	PGBD4 (R508H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2349350	NM_152595.5(PGBD4):c.1586C>A (p.Pro529Gln)	PGBD4 (P529Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2337718	NM_152595.5(PGBD4):c.1741A>G (p.Thr581Ala)	PGBD4 (T581A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2294425	NM_152595.5(PGBD4):c.1462G>A (p.Ala488Thr)	PGBD4 (A488T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2248323	NM_152595.5(PGBD4):c.1168G>A (p.Gly390Ser)	PGBD4 (G390S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2244903	NM_152595.5(PGBD4):c.1454T>C (p.Phe485Ser)	PGBD4 (F485S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2241359	NM_152595.5(PGBD4):c.146A>G (p.Asp49Gly)	PGBD4 (D49G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2206313	NM_152595.5(PGBD4):c.145G>A (p.Asp49Asn)	PGBD4 (D49N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1808017	GRCh37/hg19 15q14(chr15:33785125-34488132)x3	AVEN, CHRM5 +4 more	Copy number gain	not provided	GUncertain significance
Select item 1712253	GRCh37/hg19 15q13.3-14(chr15:32915722-34671601)x3	KATNBL1, NUTM1 +13 more	Copy number gain	See cases	GPathogenic
Select item 1341971	GRCh37/hg19 15q14(chr15:33809650-40027263)x1	ACTC1, AQR +26 more	Copy number loss	15q14 microdeletion syndrome	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 980030	GRCh37/hg19 15q14(chr15:33780535-34469123)x3	RYR3, AVEN +4 more	Copy number gain	not provided	GUncertain significance
Select item 980027	GRCh37/hg19 15q13.3-14(chr15:32914238-34879217)x1	GOLGA8B, GOLGA8A +14 more	Copy number loss	not provided	GUncertain significance
Select item 979414	GRCh37/hg19 15q13.1-14(chr15:28709714-34506805)x3	MTMR10, APBA2 +25 more	Copy number gain	not provided	GLikely pathogenic
Select item 815703	GRCh37/hg19 15q14(chr15:34348337-34404263)x1	EMC7, PGBD4 +1 more	Copy number loss	not provided	GUncertain significance
Select item 815702	GRCh37/hg19 15q14(chr15:34197488-38656254)x1	ACTC1, AQR +19 more	Copy number loss	not provided	GPathogenic
Select item 815698	GRCh37/hg19 15q13.3-14(chr15:31675452-35689958)x1	ACTC1, AQR +23 more	Copy number loss	not provided	GPathogenic
Select item 815687	GRCh37/hg19 15q11.2-14(chr15:22770421-36861479)x1	ACTC1, APBA2 +65 more	Copy number loss	not provided	GPathogenic
Select item 686130	GRCh37/hg19 15q13.3-14(chr15:32915592-34671601)x3	ARHGAP11A, AVEN +13 more	Copy number gain	not provided	GUncertain significance
Select item 564192	GRCh37/hg19 15q13.3-14(chr15:32920693-34868996)x3	EMC4, EMC7 +14 more	Copy number gain	not provided	GUncertain significance
Select item 564191	GRCh37/hg19 15q13.3-14(chr15:32446829-34868996)x1	ARHGAP11A, AVEN +17 more	Copy number loss	not provided	GLikely pathogenic
Select item 560049	Single allele	PDIA3, PEAK1 +521 more	Duplication	not provided	GPathogenic
Select item 443007	GRCh37/hg19 15q13.1-14(chr15:28828167-34509383)x3	APBA2, ARHGAP11A +25 more	Copy number gain	See cases	GUncertain significance
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 395145	GRCh37/hg19 15q11.2-26.3(chr15:20733395-102511616)x4	CHRFAM7A, CHRM5 +566 more	Copy number gain	See cases	GPathogenic
Select item 394689	GRCh37/hg19 15q13.3-14(chr15:32908373-34659183)x3	ARHGAP11A, AVEN +12 more	Copy number gain	See cases	GUncertain significance
Select item 394384	GRCh37/hg19 15q14(chr15:33809650-34455671)x3	AVEN, CHRM5 +4 more	Copy number gain	See cases	GUncertain significance
Select item 155138	GRCh38/hg38 15q11.2-14(chr15:25033869-37204304)x1	ARHGAP11B, ARHGAP11B-DT +314 more	Copy number loss	See cases	GPathogenic
Select item 152610	GRCh38/hg38 15q14(chr15:33813732-34135651)x3	AVEN, CHRM5 +15 more	Copy number gain	See cases	GUncertain significance
Select item 149530	GRCh38/hg38 15q11.2-14(chr15:23319714-38545325)x3	ACTC1, APBA2 +363 more	Copy number gain	See cases	GPathogenic
Select item 146702	GRCh38/hg38 15q11.2-14(chr15:23319714-38089582)x1	ACTC1, APBA2 +346 more	Copy number loss	See cases	GPathogenic
Select item 57877	GRCh38/hg38 15q13.3-15.1(chr15:32635803-40233825)x1	ACTC1, AQR +219 more	Copy number loss	See cases	GPathogenic
Select item 57876	GRCh38/hg38 15q13.3-14(chr15:32326136-39394068)x1	LOC132090301, LOC132090302 +178 more	Copy number loss	See cases	GPathogenic
Select item 57451	GRCh38/hg38 15q13.3-14(chr15:32607298-35200429)x3	ACTC1, AQR +93 more	Copy number gain	See cases	GPathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from Gene

Items: 59