"PreventionGenetics, part of Exact Sciences"[submitter] AND "DAG1"[gen - ClinVar

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Items: 29

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1653873	NM_004393.6(DAG1):c.174C>T (p.His58=)	DAG1	Single nucleotide variant (synonymous variant)	DAG1-related disorder +2 more	GLikely benign
Select item 195221	NM_004393.6(DAG1):c.183T>C (p.Val61=)	DAG1	Single nucleotide variant (synonymous variant)	DAG1-related disorder +3 more	GConflicting classifications of pathogenicity
Select item 195220	NM_004393.6(DAG1):c.258G>C (p.Leu86Phe)	DAG1 (L86F)	Single nucleotide variant (missense variant)	DAG1-related disorder +4 more	GConflicting classifications of pathogenicity
Select item 128884	NM_004393.6(DAG1):c.259A>G (p.Ile87Val)	DAG1 (I87V)	Single nucleotide variant (missense variant)	DAG1-related disorder +4 more	GBenign/Likely benign
Select item 281825	NM_004393.6(DAG1):c.278T>C (p.Ile93Thr)	DAG1 (I93T)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2P +3 more	GConflicting classifications of pathogenicity
Select item 31753	NM_004393.6(DAG1):c.285+42T>C	DAG1	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 282125	NM_004393.6(DAG1):c.286-10del	DAG1	Deletion (intron variant)	DAG1-related disorder +4 more	GBenign/Likely benign
Select item 208541	NM_004393.6(DAG1):c.331G>A (p.Asp111Asn)	DAG1 (D111N)	Single nucleotide variant (missense variant)	not specified +4 more	GBenign/Likely benign
Select item 257588	NM_004393.6(DAG1):c.384G>T (p.Val128=)	DAG1	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign
Select item 2940513	NM_004393.6(DAG1):c.462C>T (p.Ile154=)	DAG1	Single nucleotide variant (synonymous variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9 +2 more	GLikely benign
Select item 196385	NM_004393.6(DAG1):c.498G>A (p.Ser166=)	DAG1	Single nucleotide variant (synonymous variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9 +3 more	GConflicting classifications of pathogenicity
Select item 196388	NM_004393.6(DAG1):c.599C>G (p.Thr200Ser)	DAG1 (T200S)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9 +3 more	GBenign/Likely benign
Select item 3035202	NM_004393.6(DAG1):c.897C>T (p.Ile299=)	DAG1	Single nucleotide variant (synonymous variant)	DAG1-related disorder	GLikely benign
Select item 387219	NM_004393.6(DAG1):c.927C>T (p.Arg309=)	DAG1	Single nucleotide variant (synonymous variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 283316	NM_004393.6(DAG1):c.1022C>T (p.Thr341Ile)	DAG1 (T341I)	Single nucleotide variant (missense variant)	Autosomal recessive limb-girdle muscular dystrophy type 2P +4 more	GConflicting classifications of pathogenicity
Select item 196384	NM_004393.6(DAG1):c.1233G>A (p.Val411=)	DAG1	Single nucleotide variant (synonymous variant)	not provided +4 more	GBenign/Likely benign
Select item 257585	NM_004393.6(DAG1):c.1308G>A (p.Thr436=)	DAG1	Single nucleotide variant (synonymous variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 509509	NM_004393.6(DAG1):c.1674C>T (p.Ser558=)	DAG1	Single nucleotide variant (synonymous variant)	DAG1-related disorder +3 more	GLikely benign
Select item 257586	NM_004393.6(DAG1):c.1701C>T (p.Ser567=)	DAG1	Single nucleotide variant (synonymous variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9 +3 more	GBenign
Select item 257587	NM_004393.6(DAG1):c.2036G>A (p.Arg679His)	DAG1 (R679H)	Single nucleotide variant (missense variant)	not specified +4 more	GBenign/Likely benign
Select item 799135	NM_004393.6(DAG1):c.2190G>A (p.Glu730=)	DAG1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 226557	NM_004393.6(DAG1):c.2231G>C (p.Ser744Thr)	DAG1 (S744T)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign
Select item 31755	NM_004393.6(DAG1):c.2256C>T (p.His752=)	DAG1	Single nucleotide variant (synonymous variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9 +2 more	GBenign
Select item 498059	NM_004393.6(DAG1):c.2349T>C (p.Leu783=)	DAG1	Single nucleotide variant (synonymous variant)	DAG1-related disorder +3 more	GConflicting classifications of pathogenicity
Select item 750609	NM_004393.6(DAG1):c.2352C>T (p.Thr784=)	DAG1	Single nucleotide variant (synonymous variant)	DAG1-related disorder +2 more	GLikely benign
Select item 774035	NM_004393.6(DAG1):c.2370C>G (p.Thr790=)	DAG1	Single nucleotide variant (synonymous variant)	DAG1-related disorder +2 more	GLikely benign
Select item 389428	NM_004393.6(DAG1):c.2406C>T (p.Asp802=)	DAG1	Single nucleotide variant (synonymous variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9 +3 more	GLikely benign
Select item 1117713	NM_004393.6(DAG1):c.2556C>A (p.Pro852=)	DAG1	Single nucleotide variant (synonymous variant)	Autosomal recessive limb-girdle muscular dystrophy type 2P +2 more	GLikely benign
Select item 498904	NM_004393.6(DAG1):c.2652C>A (p.Thr884=)	DAG1	Single nucleotide variant (synonymous variant)	not provided +3 more	GConflicting classifications of pathogenicity

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Items: 29