MDK[gene] - ClinVar

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Items: 26

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58889	GRCh38/hg38 11p13-11.2(chr11:35663578-46959820)x1	ACCS, ACCSL +225 more	Copy number loss	See cases	GPathogenic
Select item 148316	GRCh38/hg38 11p12-11.12(chr11:39179252-49135735)x1	ACCS, ACCSL +265 more	Copy number loss	See cases	GPathogenic
Select item 146079	GRCh38/hg38 11p12-11.2(chr11:41118322-48643003)x1	ACCS, ACCSL +259 more	Copy number loss	See cases	GPathogenic
Select item 150595	GRCh38/hg38 11p12-11.12(chr11:42727555-49135735)x3	ACCS, ACCSL +255 more	Copy number gain	See cases	GLikely pathogenic
Select item 2243574	NM_002391.6(MDK):c.97C>G (p.Pro33Ala)	MDK (P33A)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3124599	NM_002391.6(MDK):c.140C>T (p.Pro47Leu)	LOC124433254, MDK (P47L)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2614142	NM_002391.6(MDK):c.214G>T (p.Val72Leu)	LOC124433254, MDK (V72L)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2289198	NM_002391.6(MDK):c.245C>T (p.Ala82Val)	LOC124433254, MDK (A82V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3293842	NM_002391.6(MDK):c.275G>T (p.Gly92Val)	LOC124433254, MDK (G36V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3293841	NM_002391.6(MDK):c.289G>A (p.Gly97Ser)	LOC124433254, MDK (G41S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2533986	NM_002391.6(MDK):c.410A>G (p.Lys137Arg)	MDK (K137R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2426467	NC_000011.9:g.(?_45827353)_(47804770_?)del	ACP2, AGBL2 +40 more	Deletion	Leukocyte adhesion deficiency type II	GPathogenic
Select item 1707422	GRCh37/hg19 11p11.2-q12.2(chr11:51581311-54891247)x3	ACP2, ACCS +216 more	Copy number gain	See cases	GPathogenic
Select item 1704646	GRCh37/hg19 11p13-q25(chr11:32799481-134938470)x3	MAML2, MAP3K11 +955 more	Copy number gain	MISSED ABORTION	GPathogenic
Select item 1527640	GRCh37/hg19 11p11.2(chr11:46248477-46748132)	AMBRA1, ARHGAP1 +8 more	Copy number loss	not specified	GUncertain significance
Select item 1448414	NC_000011.9:g.(?_46318032)_(46761066_?)dup	AMBRA1, ARHGAP1 +8 more	Duplication	not provided	GUncertain significance
Select item 1340048	GRCh37/hg19 11p12-11.2(chr11:40117145-46920718)x1	ACCS, ACCSL +33 more	Copy number loss	not provided	GPathogenic
Select item 1000344	NC_000011.9:g.(?_45827353)_(47804770_?)dup	ARHGAP1, ATG13 +40 more	Duplication	Leukocyte adhesion deficiency type II	GUncertain significance
Select item 997825	Single allele	MMP13, MMP20 +904 more	Deletion	Intellectual disability	GPathogenic
Select item 979917	GRCh37/hg19 11p11.2(chr11:46123974-46442526)x3	MDK, CHRM4 +4 more	Copy number gain	not provided	GUncertain significance
Select item 979915	GRCh37/hg19 11p11.2(chr11:45995260-46536343)x1	CHRM4, AMBRA1 +4 more	Copy number loss	not provided	GLikely pathogenic
Select item 832135	NC_000011.10:g.(?_46366257)_(46744577_?)dup	AMBRA1, ARHGAP1 +8 more	Duplication	not provided	GUncertain significance
Select item 685706	GRCh37/hg19 11p11.2(chr11:46302171-46783079)x3	AMBRA1, ARHGAP1 +9 more	Copy number gain	not provided	GUncertain significance
Select item 559401	Single allele	DGKZ, HARBI1 +4 more	Duplication	Short philtrum +4 more	GUncertain significance
Select item 441904	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)	AAMDC, AASDHPPT +1289 more	Copy number gain	See cases	GPathogenic
Select item 441903	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3	SLC37A4, SNORD26 +1289 more	Copy number gain	See cases	GPathogenic

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Items: 26