"Athena Diagnostics"[submitter] AND "CRPPA"[gene] - ClinVar - NCBI

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Items: 14

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 129285	NM_001101426.4(CRPPA):c.1220T>C (p.Leu407Ser)	CRPPA, CRPPA-AS1 (L407S +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +4 more	GBenign/Likely benign
Select item 429621	NM_001101426.4(CRPPA):c.1218T>G (p.Ile406Met)	CRPPA, CRPPA-AS1 (I406M +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 198765	NM_001101426.4(CRPPA):c.1059G>A (p.Lys353=)	CRPPA, CRPPA-AS1	Single nucleotide variant (synonymous variant +1 more)	Congenital Muscular Dystrophy, alpha-dystroglycan related +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)	Congenital Muscular Dystrophy, alpha-dystroglycan related +4 more	GConflicting classifications of pathogenicity
Select item 387587	NM_001101426.4(CRPPA):c.933+3A>G	CRPPA	Single nucleotide variant (intron variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 +2 more	GConflicting classifications of pathogenicity
Select item 359585	NM_001101426.4(CRPPA):c.836-9del	CRPPA	Deletion (intron variant)	Congenital Muscular Dystrophy, alpha-dystroglycan related +3 more	GBenign/Likely benign
Select item 1680765	NM_001101426.4(CRPPA):c.827T>C (p.Ile276Thr)	CRPPA (I226T +2 more)	Single nucleotide variant (missense variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 +2 more	GUncertain significance
Select item 226676	NM_001101426.4(CRPPA):c.685-25GTT[6]	CRPPA	Microsatellite (intron variant)	not specified +4 more	GBenign/Likely benign
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 447580	NM_001101426.4(CRPPA):c.277A>G (p.Ile93Val)	CRPPA (I93V)	Single nucleotide variant (missense variant +1 more)	not specified +3 more	GUncertain significance
Select item 193158	NM_001101426.4(CRPPA):c.79A>C (p.Thr27Pro)	LOC129998005, CRPPA (T27P)	Single nucleotide variant (missense variant +1 more)	not specified +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 279985	NM_001101426.4(CRPPA):c.53dup (p.Ser19Glufs)	CRPPA, LOC129998005 (S19fs)	Duplication (frameshift variant +1 more)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 129286	NM_001101426.4(CRPPA):c.32C>G (p.Pro11Arg)	CRPPA, LOC129998005 (P11R)	Single nucleotide variant (missense variant +1 more)	Congenital Muscular Dystrophy, alpha-dystroglycan related +3 more	GBenign/Likely benign