"PreventionGenetics, part of Exact Sciences"[submitter] AND "CRPPA"[ge - ClinVar - NCBI

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Items: 19

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 257460	NM_001101426.4(CRPPA):c.*34C>G	CRPPA	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital Muscular Dystrophy, alpha-dystroglycan related +2 more	GBenign
Select item 257462	NM_001101426.4(CRPPA):c.1251+50A>G	CRPPA, CRPPA-AS1	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 774187	NM_001101426.4(CRPPA):c.1120-10T>C	CRPPA, CRPPA-AS1	Single nucleotide variant (intron variant)	Congenital Muscular Dystrophy, alpha-dystroglycan related +3 more	GConflicting classifications of pathogenicity
Select item 198765	NM_001101426.4(CRPPA):c.1059G>A (p.Lys353=)	CRPPA, CRPPA-AS1	Single nucleotide variant (synonymous variant +1 more)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 198766	NM_001101426.4(CRPPA):c.1054C>A (p.Gln352Lys)	CRPPA, CRPPA-AS1 (Q352K +2 more)	Single nucleotide variant (missense variant +1 more)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 257461	NM_001101426.4(CRPPA):c.1026+45_1026+46del	CRPPA, CRPPA-AS1	Deletion (intron variant)	not provided +1 more	GBenign
Select item 198454	NM_001101426.4(CRPPA):c.947C>A (p.Thr316Lys)	CRPPA, CRPPA-AS1 (T316K +2 more)	Single nucleotide variant (missense variant +1 more)	not specified +4 more	GBenign/Likely benign
Select item 289095	NM_001101426.4(CRPPA):c.789+9G>A	CRPPA	Single nucleotide variant (intron variant)	CRPPA-related disorder +3 more	GConflicting classifications of pathogenicity
Select item 129289	NM_001101426.4(CRPPA):c.726A>G (p.Gln242=)	CRPPA	Single nucleotide variant (synonymous variant +1 more)	not specified +3 more	GBenign
Select item 226676	NM_001101426.4(CRPPA):c.685-25GTT[6]	CRPPA	Microsatellite (intron variant)	not specified +4 more	GBenign/Likely benign
Select item 513049	NM_001101426.4(CRPPA):c.645A>G (p.Gln215=)	CRPPA	Single nucleotide variant (synonymous variant +2 more)	CRPPA-related disorder +3 more	GConflicting classifications of pathogenicity
Select item 226675	NM_001101426.4(CRPPA):c.534+13T>A	CRPPA	Single nucleotide variant (intron variant)	not specified +3 more	GBenign
Select item 282178	NM_001101426.4(CRPPA):c.531C>T (p.His177=)	CRPPA	Single nucleotide variant (synonymous variant +1 more)	CRPPA-related disorder +3 more	GConflicting classifications of pathogenicity
Select item 129287	NM_001101426.4(CRPPA):c.407C>T (p.Ala136Val)	CRPPA (A136V)	Single nucleotide variant (missense variant +1 more)	not specified +4 more	GBenign
Select item 289640	NM_001101426.4(CRPPA):c.402A>G (p.Leu134=)	CRPPA	Single nucleotide variant (synonymous variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2U +3 more	GConflicting classifications of pathogenicity
Select item 359591	NM_001101426.4(CRPPA):c.360C>G (p.Val120=)	CRPPA	Single nucleotide variant (synonymous variant +1 more)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 193158	NM_001101426.4(CRPPA):c.79A>C (p.Thr27Pro)	CRPPA, LOC129998005 (T27P)	Single nucleotide variant (missense variant +1 more)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 +5 more	GConflicting classifications of pathogenicity
Select item 257463	NM_001101426.4(CRPPA):c.67G>T (p.Gly23Cys)	CRPPA, LOC129998005 (G23C)	Single nucleotide variant (missense variant +1 more)	not specified +3 more	GBenign/Likely benign
Select item 129288	NM_001101426.4(CRPPA):c.55A>C (p.Ser19Arg)	LOC129998005, CRPPA (S19R)	Single nucleotide variant (missense variant +1 more)	not specified +4 more	GBenign