"CeGaT Center for Human Genetics Tuebingen"[submitter] AND "SUN1"[gene - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1583226	NM_001130965.3(SUN1):c.72G>A (p.Ala24=)	LOC126859921, SUN1	Single nucleotide variant (synonymous variant +3 more)	Emery-Dreifuss muscular dystrophy +1 more	GLikely benign
Select item 461656	NM_001130965.3(SUN1):c.235A>G (p.Ser79Gly)	SUN1 (S79G +3 more)	Single nucleotide variant (missense variant +3 more)	not provided +1 more	GLikely benign
Select item 530823	NM_001130965.3(SUN1):c.335C>T (p.Thr112Met)	SUN1 (T112M +4 more)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GUncertain significance
Select item 2657169	NM_001130965.3(SUN1):c.659-3458C>T	SUN1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2657170	NM_001130965.3(SUN1):c.732C>A (p.Ala244=)	SUN1 (P129H +1 more)	Single nucleotide variant (synonymous variant +3 more)	not provided	GLikely benign
Select item 461666	NM_001130965.3(SUN1):c.738G>T (p.Trp246Cys)	SUN1 (W246C +22 more)	Single nucleotide variant (missense variant +2 more)	Emery-Dreifuss muscular dystrophy +2 more	GBenign
Select item 704478	NM_001130965.3(SUN1):c.873G>A (p.Lys291=)	SUN1 (V75I)	Single nucleotide variant (synonymous variant +2 more)	Emery-Dreifuss muscular dystrophy +1 more	GLikely benign
Select item 1635488	NM_001130965.3(SUN1):c.948G>A (p.Ser316=)	SUN1	Single nucleotide variant (synonymous variant +2 more)	Emery-Dreifuss muscular dystrophy +1 more	GLikely benign
Select item 461654	NM_001130965.3(SUN1):c.2250C>T (p.Pro750=)	SUN1 (R753*)	Single nucleotide variant (synonymous variant +2 more)	Emery-Dreifuss muscular dystrophy +2 more	GBenign/Likely benign