DPF1[gene] - ClinVar

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

Search results

Items: 24

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144406	GRCh38/hg38 19p13.2-q13.31(chr19:11227942-44626354)x3	ABHD8, ACP5 +2135 more	Copy number gain	See cases	GPathogenic
Select item 57043	GRCh38/hg38 19q13.12-13.2(chr19:37319377-42738688)x3	ACP7, ACTMAP +514 more	Copy number gain	See cases	GPathogenic
Select item 3085439	NM_001135155.3(DPF1):c.1138G>T (p.Ala380Ser)	DPF1 (A380S +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2214483	NM_001135155.3(DPF1):c.857G>A (p.Cys286Tyr)	DPF1 (C286Y +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2268283	NM_001135155.3(DPF1):c.710G>T (p.Arg237Leu)	DPF1, LOC126862901 (R238L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2205118	NM_001135155.3(DPF1):c.691C>A (p.His231Asn)	DPF1, LOC126862901 (H176N +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2649785	NM_001135155.3(DPF1):c.681C>T (p.Asn227=)	DPF1, LOC126862901	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3085444	NM_001135155.3(DPF1):c.479A>G (p.Asp160Gly)	DPF1 (D160G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3085443	NM_001135155.3(DPF1):c.449C>T (p.Pro150Leu)	DPF1 (P150L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2352698	NM_001135155.3(DPF1):c.393G>T (p.Glu131Asp)	DPF1 (E76D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3085441	NM_001135155.3(DPF1):c.200C>T (p.Pro67Leu)	DPF1 (P68L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3085440	NM_001135155.3(DPF1):c.197C>A (p.Ala66Asp)	DPF1 (A11D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2346271	NM_001135155.3(DPF1):c.-17A>C	DPF1, LOC130064339	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3085442	NM_001135155.3(DPF1):c.-35C>A	DPF1, LOC130064339	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3062386	GRCh37/hg19 19q11-13.2(chr19:28271146-41508851)x3	SLC7A9, SNRPA +215 more	Copy number gain	not specified	GPathogenic
Select item 2423269	NC_000019.9:g.(?_38375572)_(39738787_?)dup	ACP7, ACTN4 +34 more	Duplication	RYR1-related disorder	GUncertain significance
Select item 1526664	GRCh37/hg19 19q13.12-13.2(chr19:38278995-38745778)	DPF1, PPP1R14A +2 more	Copy number gain	not specified	GUncertain significance
Select item 1330177	GRCh37/hg19 19p13.11-q13.2(chr19:19546923-41313229)x3	ACP7, ACTMAP +255 more	Copy number gain	Specific learning disability	GPathogenic
Select item 816081	GRCh37/hg19 19q13.13-13.2(chr19:38512717-39291526)x3	ACTN4, C19orf33 +18 more	Copy number gain	not provided	GUncertain significance
Select item 685025	GRCh37/hg19 19q11-13.33(chr19:28271106-49213832)x3	ACP7, ACTMAP +434 more	Copy number gain	not provided	GPathogenic
Select item 443499	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)	BICRA, BLOC1S3 +1364 more	Copy number gain	See cases	GPathogenic
Select item 443498	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3	A1BG, ABCA7 +1364 more	Copy number gain	See cases	GPathogenic
Select item 253452	GRCh37/hg19 19q13.12-13.2(chr19:37582250-41630908)x3	DPF1, DYRK1B +105 more	Copy number gain	See cases	GPathogenic
Select item 221401	GRCh37/hg19 19q13.12-13.2(chr19:36685995-38708166)x1	DPF1, SIPA1L3 +31 more	Copy number loss	Breast ductal adenocarcinoma	GUncertain significance

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: 24