ClinVar for Gene (Select 89978) - ClinVar

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Links from Gene

Items: 39

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3273596	NM_080650.4(DPH6):c.13G>T (p.Ala5Ser)	DPH6 (A5S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3273595	NM_080650.4(DPH6):c.517G>C (p.Asp173His)	DPH6 (D173H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3085493	NM_080650.4(DPH6):c.368G>A (p.Arg123His)	DPH6 (R123H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3085492	NM_080650.4(DPH6):c.147G>A (p.Met49Ile)	DPH6 (M49I)	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 3063372	GRCh37/hg19 15q14(chr15:34990168-39236311)x1	ACTC1, AQR +10 more	Copy number loss	not specified	GPathogenic
Select item 2684748	GRCh37/hg19 15q11.2-14(chr15:22770422-36556562)x3	ACTC1, APBA2 +65 more	Copy number gain	not provided	GPathogenic
Select item 2553169	NM_080650.4(DPH6):c.262T>C (p.Cys88Arg)	DPH6 (C88R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2546149	NM_080650.4(DPH6):c.617A>G (p.Glu206Gly)	DPH6 (E206G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2377785	NM_080650.4(DPH6):c.716A>G (p.Tyr239Cys)	DPH6 (Y239C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2340626	NM_080650.4(DPH6):c.226G>A (p.Gly76Arg)	DPH6 (G76R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2320320	NM_080650.4(DPH6):c.481A>G (p.Met161Val)	DPH6 (M161V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2293035	NM_080650.4(DPH6):c.504G>T (p.Leu168Phe)	DPH6 (L168F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2292750	NM_080650.4(DPH6):c.782C>G (p.Ser261Cys)	DPH6 (S261C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2281543	NM_080650.4(DPH6):c.559C>T (p.Leu187Phe)	DPH6 (L187F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2271319	NM_080650.4(DPH6):c.136G>A (p.Asp46Asn)	DPH6 (D46N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2230462	NM_080650.4(DPH6):c.596G>A (p.Cys199Tyr)	DPH6 (C199Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 815704	GRCh37/hg19 15q14(chr15:35523241-35699567)x1	DPH6	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 776871	NM_080650.4(DPH6):c.122G>A (p.Gly41Glu)	DPH6 (G41E)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 585332	GRCh37/hg19 15q14-15.1 chr15:34638237..42057083 complex variant	CCDC32, RTF1 +60 more	Complex	Spindle cell sarcoma	GPathogenic
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 395145	GRCh37/hg19 15q11.2-26.3(chr15:20733395-102511616)x4	CHRFAM7A, CHRM5 +566 more	Copy number gain	See cases	GPathogenic
Select item 157342	Single allele	DPH6, LOC126862102	Deletion	Small for gestational age	Gnot provided
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 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 57878	GRCh38/hg38 15q14(chr15:34588015-39280404)x1	ACTC1, AQR +99 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
Select item 57226	GRCh38/hg38 15q14(chr15:34995451-39735062)x1	CDIN1, DPH6 +92 more	Copy number loss	See cases	GPathogenic

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Links from Gene

Items: 39