DPF1[gene] - ClinVar

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Items: 26

	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 3273573	NM_001135155.3(DPF1):c.1148A>C (p.Tyr383Ser)	DPF1 (Y349S +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 3273574	NM_001135155.3(DPF1):c.464T>A (p.Val155Glu)	DPF1 (V100E +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	DPF1, ECH1 +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	ZNF607, ZNF780A +432 more	Copy number gain	not provided	GPathogenic
Select item 443499	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)	PGLYRP1, PGLYRP2 +1364 more	Copy number gain	See cases	GPathogenic
Select item 443498	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3	TMC4, TMED1 +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

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Items: 26