"Institute of Human Genetics, University of Leipzig Medical Center"[su - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 201090	NM_002474.3(MYH11):c.5666C>T (p.Ala1889Val)	MYH11, NDE1 (A1889V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 201086	NM_002474.3(MYH11):c.5499G>C (p.Glu1833Asp)	MYH11, NDE1 (E1833D +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +5 more	GConflicting classifications of pathogenicity
Select item 1804129	NM_002474.3(MYH11):c.4578+1del	MYH11, NDE1	Deletion (intron variant +1 more)	Aortic aneurysm, familial thoracic 4	GLikely pathogenic
Select item 975938	NM_002474.3(MYH11):c.4121C>T (p.Ser1374Phe)	MYH11, NDE1 (S1374F +1 more)	Single nucleotide variant (missense variant +1 more)	Aortic aneurysm, familial thoracic 4	GUncertain significance
Select item 2580346	GRCh37/hg19 16p13.11-12.3(chr16:15489453-18321582)x1	ABCC1, ABCC6 +8 more	Copy number loss	16p13.11 microdeletion syndrome	GPathogenic
Select item 2580341	GRCh37/hg19 16p13.11(chr16:14853752-16666672)x1	ABCC1, ABCC6 +14 more	Copy number loss	16p13.11 microdeletion syndrome	GPathogenic
Select item 2580319	GRCh37/hg19 16p13.11(chr16:15125542-16388672)x3	ABCC1, ABCC6 +11 more	Copy number gain	16p13.11 microduplication syndrome	GPathogenic
Select item 2580302	GRCh37/hg19 16p13.11(chr16:15475455-16308356)x1	ABCC1, ABCC6 +6 more	Copy number loss	Autosomal recessive inherited pseudoxanthoma elasticum	GPathogenic
Select item 997965	GRCh37/hg19 16p13.11(chr16:15126890-16293190)x3	ABCC1, ABCC6 +10 more	Copy number gain	Intellectual disability	GPathogenic
Select item 997820	Single allele	ABCC1, ABCC6 +13 more	Deletion	Epilepsy	GPathogenic