DPH6[gene] - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 39

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 155138	GRCh38/hg38 15q11.2-14(chr15:25033869-37204304)x1	ARHGAP11B, ARHGAP11B-DT +314 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 57877	GRCh38/hg38 15q13.3-15.1(chr15:32635803-40233825)x1	ACTC1, AQR +219 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 57226	GRCh38/hg38 15q14(chr15:34995451-39735062)x1	CDIN1, DPH6 +92 more	Copy number loss	See cases	GPathogenic
Select item 157342	Single allele	DPH6, LOC126862102	Deletion	Small for gestational age	Gnot provided
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 2377785	NM_080650.4(DPH6):c.716A>G (p.Tyr239Cys)	DPH6 (Y239C)	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 2230462	NM_080650.4(DPH6):c.596G>A (p.Cys199Tyr)	DPH6 (C199Y)	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 3273595	NM_080650.4(DPH6):c.517G>C (p.Asp173His)	DPH6 (D173H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2320320	NM_080650.4(DPH6):c.481A>G (p.Met161Val)	DPH6 (M161V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
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 2553169	NM_080650.4(DPH6):c.262T>C (p.Cys88Arg)	DPH6 (C88R)	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 3085492	NM_080650.4(DPH6):c.147G>A (p.Met49Ile)	DPH6 (M49I)	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 776871	NM_080650.4(DPH6):c.122G>A (p.Gly41Glu)	DPH6 (G41E)	Single nucleotide variant (missense variant)	not provided	GBenign
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 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 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 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

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 39