DMKN[gene] - ClinVar

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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	LOC130064390, LOC130064391 +2135 more	Copy number gain	See cases	GPathogenic
Select item 146619	GRCh38/hg38 19q12-13.13(chr19:29661858-38114723)x1	LOC130064186, LOC130064187 +459 more	Copy number loss	See cases	GPathogenic
Select item 147631	GRCh38/hg38 19q12-13.13(chr19:29671324-37902990)x1	LOC130064234, LOC130064235 +439 more	Copy number loss	See cases	GPathogenic
Select item 151469	GRCh38/hg38 19q13.12(chr19:35474957-35521132)x3	DMKN, KRTDAP +2 more	Copy number gain	See cases	GLikely benign
Select item 719578	NM_033317.5(DMKN):c.837CGGCAGCAGTGG[3] (p.280GSSG[4])	DMKN	Microsatellite (inframe_insertion +1 more)	not provided	GBenign
Select item 2357089	NM_033317.5(DMKN):c.850G>A (p.Gly284Ser)	DMKN (G284S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2360227	NM_033317.5(DMKN):c.841A>G (p.Ser281Gly)	DMKN (S281G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2257084	NM_033317.5(DMKN):c.332A>G (p.His111Arg)	DMKN (H111R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2404598	NM_033317.5(DMKN):c.298G>A (p.Gly100Arg)	DMKN (G100R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2223019	NM_033317.5(DMKN):c.79G>A (p.Gly27Arg)	DMKN (G27R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 2671623	Single allele	ALKBH6, APLP1 +72 more	Deletion	not provided	GPathogenic
Select item 2424426	NC_000019.9:g.(?_33167170)_(36643309_?)dup	FXYD5, FXYD7 +83 more	Duplication	Hereditary spastic paraplegia 75	GUncertain significance
Select item 1412985	NC_000019.9:g.(?_35521725)_(36643309_?)del	PSENEN, RBM42 +54 more	Deletion	Brugada syndrome 5	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 812929	Single allele	MAG, FXYD5 +33 more	Deletion	Dystonic disorder	GPathogenic
Select item 685279	GRCh37/hg19 19q13.12(chr19:35613953-36183886)x1	ATP4A, CD22 +24 more	Copy number loss	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 625761	GRCh37/hg19 19q13.11-13.12(chr19:35043556-36316644)	ARHGAP33, ATP4A +44 more	Copy number loss	not provided	GPathogenic
Select item 625760	GRCh37/hg19 19q13.11-13.12(chr19:35111811-37744992)	ALKBH6, APLP1 +79 more	Copy number loss	Generalized epilepsy with febrile seizures plus, type 1	GPathogenic
Select item 443499	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)	A1BG, ABCA7 +1364 more	Copy number gain	See cases	GPathogenic
Select item 443498	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3	LILRA4, LILRA5 +1364 more	Copy number gain	See cases	GPathogenic
Select item 394109	GRCh37/hg19 19q12-13.12(chr19:30735448-36120396)x3	ANKRD27, ATP4A +58 more	Copy number gain	See cases	GPathogenic
Select item 221398	GRCh37/hg19 19q13.12(chr19:35516999-35990896)x3	CD22, DMKN +18 more	Copy number gain	Breast ductal adenocarcinoma	GUncertain significance

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Items: 24