ClinVar for MedGen (Select 766244) - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Links from MedGen

Items: 1 to 100 of 436

<< First< Prev

Page of 5

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3773678	NM_001101426.4(CRPPA):c.253G>A (p.Glu85Lys)	CRPPA (E85K)	Single nucleotide variant (missense variant +1 more)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7	GUncertain significance
Select item 3773677	NM_001101426.4:c.(278+1_279-1)_(1355+1_1356-1)del	CRPPA	Deletion	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7	GLikely pathogenic
Select item 3769494	NC_000007.13:g.(16255823_16298014)_(16298638_16317753)del	CRPPA	Deletion	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7	GPathogenic
Select item 3763427	NM_001101426.4(CRPPA):c.618C>T (p.Ala206=)	CRPPA	Single nucleotide variant (intron variant +2 more)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 +1 more	GLikely benign
Select item 3762639	NM_001101426.4(CRPPA):c.1252-19G>T	CRPPA, LOC129389757	Single nucleotide variant (intron variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 +1 more	GLikely benign
Select item 3762147	NM_001101426.4(CRPPA):c.1164G>T (p.Met388Ile)	CRPPA, CRPPA-AS1 (M338I +2 more)	Single nucleotide variant (missense variant +1 more)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 +1 more	GUncertain significance
Select item 3761235	NM_001101426.4(CRPPA):c.996A>G (p.Leu332=)	CRPPA, CRPPA-AS1	Single nucleotide variant (synonymous variant +1 more)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 +1 more	GLikely benign
Select item 3760301	NM_001101426.4(CRPPA):c.769_789+179del	CRPPA	Deletion (splice donor variant +1 more)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 +1 more	GLikely pathogenic
Select item 3760281	NM_001101426.4(CRPPA):c.587A>T (p.Asp196Val)	CRPPA (D196V)	Single nucleotide variant (missense variant +2 more)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 +1 more	GUncertain significance
Select item 3759109	NM_001101426.4(CRPPA):c.716_719del (p.Glu239fs)	CRPPA (E189fs +1 more)	Deletion (frameshift variant +1 more)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 +1 more	GPathogenic
Select item 3758722	NM_001101426.4(CRPPA):c.1119+20A>G	CRPPA, CRPPA-AS1	Single nucleotide variant (intron variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 +1 more	GLikely benign
Select item 3758602	NM_001101426.4(CRPPA):c.685-25GTT[3]	CRPPA	Microsatellite (intron variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 +1 more	GLikely benign
Select item 3758343	NM_001101426.4(CRPPA):c.1009A>C (p.Asn337His)	CRPPA, CRPPA-AS1 (N287H +2 more)	Single nucleotide variant (missense variant +1 more)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 +1 more	GUncertain significance
Select item 3758299	NM_001101426.4(CRPPA):c.777T>C (p.Pro259=)	CRPPA	Single nucleotide variant (synonymous variant +1 more)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 +1 more	GLikely benign
Select item 3758107	NM_001101426.4(CRPPA):c.606G>A (p.Ser202=)	CRPPA	Single nucleotide variant (synonymous variant +2 more)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 +1 more	GLikely benign
Select item 3756927	NM_001101426.4(CRPPA):c.939A>G (p.Val313=)	CRPPA, CRPPA-AS1	Single nucleotide variant (synonymous variant +1 more)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 +1 more	GLikely benign
Select item 3756744	NM_001101426.4(CRPPA):c.483del (p.Phe161fs)	CRPPA (F161fs)	Deletion (frameshift variant +1 more)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 +1 more	GPathogenic
Select item 3754442	NM_001101426.4(CRPPA):c.849A>G (p.Gln283=)	CRPPA	Single nucleotide variant (synonymous variant +1 more)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 +1 more	GLikely benign
Select item 3752029	NM_001101426.4(CRPPA):c.1026+17G>A	CRPPA, CRPPA-AS1	Single nucleotide variant (intron variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 +1 more	GLikely benign
Select item 3750526	NM_001101426.4(CRPPA):c.27C>T (p.Ala9=)	CRPPA, LOC129998005	Single nucleotide variant (synonymous variant +1 more)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 +1 more	GLikely benign
Select item 3749918	NM_001101426.4(CRPPA):c.1223T>C (p.Leu408Ser)	CRPPA, CRPPA-AS1 (L358S +2 more)	Single nucleotide variant (missense variant +1 more)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 +1 more	GUncertain significance
Select item 3749141	NM_001101426.4(CRPPA):c.836-6T>A	CRPPA	Single nucleotide variant (intron variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 +1 more	GLikely benign
Select item 3748532	NM_001101426.4(CRPPA):c.420T>C (p.Asp140=)	CRPPA	Single nucleotide variant (synonymous variant +1 more)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 +1 more	GLikely benign
Select item 3748182	NM_001101426.4(CRPPA):c.535-1G>A	CRPPA	Single nucleotide variant (intron variant +1 more)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 +1 more	GLikely pathogenic
Select item 3341351	NM_001101426.4(CRPPA):c.509T>G (p.Val170Gly)	CRPPA (V170G)	Single nucleotide variant (missense variant +1 more)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7	GUncertain significance
Select item 3245806	NC_000007.13:g.(?_16255671)_(16317871_?)del	CRPPA	Deletion	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 +1 more	GPathogenic
Select item 3245805	NC_000007.13:g.(?_16297995)_(16348272_?)del	CRPPA	Deletion	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 +1 more	GPathogenic
Select item 3245804	NC_000007.13:g.(?_16297995)_(16415886_?)del	CRPPA	Deletion	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 +1 more	GPathogenic
Select item 3245803	NC_000007.13:g.(?_16317734)_(16317871_?)del	CRPPA	Deletion	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 +1 more	GPathogenic
Select item 3024158	NM_001101426.4(CRPPA):c.344_345insT (p.Lys115fs)	CRPPA (K115fs)	Insertion (frameshift variant +1 more)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7	GLikely pathogenic
Select item 2950595	NM_001101426.4(CRPPA):c.1027-18A>G	CRPPA, CRPPA-AS1	Single nucleotide variant (intron variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 +1 more	GLikely benign
Select item 2950219	NM_001101426.4(CRPPA):c.654A>C (p.Leu218=)	CRPPA	Single nucleotide variant (synonymous variant +2 more)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 +1 more	GLikely benign
Select item 2949640	NM_001101426.4(CRPPA):c.393C>T (p.Phe131=)	CRPPA	Single nucleotide variant (synonymous variant +1 more)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 +1 more	GLikely benign
Select item 2949404	NM_001101426.4(CRPPA):c.789+10A>T	CRPPA	Single nucleotide variant (intron variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 +1 more	GLikely benign
Select item 2948467	NM_001101426.4(CRPPA):c.377G>A (p.Arg126His)	CRPPA (R126H)	Single nucleotide variant (missense variant +1 more)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 +1 more	GLikely pathogenic
Select item 2945183	NM_001101426.4(CRPPA):c.606G>C (p.Ser202=)	CRPPA	Single nucleotide variant (synonymous variant +2 more)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 +1 more	GLikely benign
Select item 2944287	NM_001101426.4(CRPPA):c.621A>G (p.Arg207=)	CRPPA	Single nucleotide variant (synonymous variant +2 more)	Autosomal recessive limb-girdle muscular dystrophy type 2U +1 more	GLikely benign
Select item 2941838	NM_001101426.4(CRPPA):c.934-16T>C	CRPPA, CRPPA-AS1	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2U +1 more	GLikely benign
Select item 2941204	NM_001101426.4(CRPPA):c.6_13dup (p.Pro5fs)	LOC129998005, CRPPA (P5fs)	Duplication (frameshift variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2U +1 more	GPathogenic
Select item 2940462	NM_001101426.4(CRPPA):c.735A>G (p.Leu245=)	CRPPA	Single nucleotide variant (synonymous variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2U +1 more	GLikely benign
Select item 2936902	NM_001101426.4(CRPPA):c.1120-12del	CRPPA, CRPPA-AS1	Deletion (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2U +1 more	GBenign
Select item 2934594	NM_001101426.4(CRPPA):c.411G>C (p.Leu137=)	CRPPA	Single nucleotide variant (synonymous variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2U +1 more	GLikely benign
Select item 2934522	NM_001101426.4(CRPPA):c.159C>A (p.Ala53=)	CRPPA, LOC129998004	Single nucleotide variant (synonymous variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2U +1 more	GLikely benign
Select item 2933675	NM_001101426.4(CRPPA):c.864T>C (p.Val288=)	CRPPA	Single nucleotide variant (synonymous variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2U +1 more	GLikely benign
Select item 2931762	NM_001101426.4(CRPPA):c.1152C>T (p.Pro384=)	CRPPA, CRPPA-AS1	Single nucleotide variant (synonymous variant +1 more)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 +1 more	GLikely benign
Select item 2930168	NM_001101426.4(CRPPA):c.337C>T (p.Gln113Ter)	CRPPA (Q113*)	Single nucleotide variant (nonsense +1 more)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 +1 more	GPathogenic
Select item 2929946	NM_001101426.4(CRPPA):c.836-16T>A	CRPPA	Single nucleotide variant (intron variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 +1 more	GLikely benign
Select item 2928165	NM_001101426.4(CRPPA):c.963T>C (p.Gly321=)	CRPPA, CRPPA-AS1	Single nucleotide variant (synonymous variant +1 more)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 +1 more	GLikely benign
Select item 2926980	NM_001101426.4(CRPPA):c.258-18C>T	CRPPA	Single nucleotide variant (intron variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 +1 more	GLikely benign
Select item 2925716	NM_001101426.4(CRPPA):c.684+13G>A	CRPPA	Single nucleotide variant (intron variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 +1 more	GLikely benign
Select item 2924564	NM_001101426.4(CRPPA):c.896del (p.Gly299fs)	CRPPA (G299fs +2 more)	Deletion (frameshift variant +1 more)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 +1 more	GPathogenic
Select item 2924210	NM_001101426.4(CRPPA):c.9C>T (p.Ala3=)	CRPPA, LOC129998005	Single nucleotide variant (synonymous variant +1 more)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 +1 more	GLikely benign
Select item 2923511	NM_001101426.4(CRPPA):c.684+14C>G	CRPPA	Single nucleotide variant (intron variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 +1 more	GLikely benign
Select item 2922605	NM_001101426.4(CRPPA):c.1203A>G (p.Val401=)	CRPPA, CRPPA-AS1	Single nucleotide variant (synonymous variant +1 more)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 +1 more	GLikely benign
Select item 2423715	NC_000007.13:g.(?_16131320)_(16255842_?)del	CRPPA	Deletion	Autosomal recessive limb-girdle muscular dystrophy type 2U +1 more	GPathogenic
Select item 2423714	NC_000007.13:g.(?_16131320)_(16460947_?)del	CRPPA	Deletion	Autosomal recessive limb-girdle muscular dystrophy type 2U +1 more	GPathogenic
Select item 2423713	NC_000007.13:g.(?_16131320)_(16348272_?)dup	CRPPA	Duplication	Autosomal recessive limb-girdle muscular dystrophy type 2U +1 more	GUncertain significance
Select item 2423712	NC_000007.13:g.(?_16341026)_(16460947_?)dup	CRPPA	Duplication	Autosomal recessive limb-girdle muscular dystrophy type 2U +1 more	GUncertain significance
Select item 2423711	NC_000007.13:g.(?_16445666)_(16445982_?)dup	CRPPA	Duplication	Autosomal recessive limb-girdle muscular dystrophy type 2U +1 more	GLikely pathogenic
Select item 2423710	NC_000007.13:g.(?_16297995)_(16317871_?)del	CRPPA	Deletion	Autosomal recessive limb-girdle muscular dystrophy type 2U +1 more	GPathogenic
Select item 2423709	NC_000007.13:g.(?_16415697)_(16460947_?)del	CRPPA	Deletion	Autosomal recessive limb-girdle muscular dystrophy type 2U +1 more	GPathogenic
Select item 2420140	NM_001101426.4(CRPPA):c.869A>G (p.Asp290Gly)	CRPPA (D240G +2 more)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2U +1 more	GUncertain significance
Select item 2198473	NM_001101426.4(CRPPA):c.585T>G (p.Ala195=)	CRPPA	Single nucleotide variant (synonymous variant +2 more)	Autosomal recessive limb-girdle muscular dystrophy type 2U +1 more	GLikely benign
Select item 2195017	NM_001101426.4(CRPPA):c.684+16T>C	CRPPA	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2U +1 more	GLikely benign
Select item 2194895	NM_001101426.4(CRPPA):c.684+11G>A	CRPPA	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2U +1 more	GLikely benign
Select item 2194198	NM_001101426.4(CRPPA):c.789+89_789+90delinsGA	CRPPA	Indel (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2U +1 more	GUncertain significance
Select item 2194156	NM_001101426.4(CRPPA):c.387A>C (p.Ser129=)	CRPPA	Single nucleotide variant (synonymous variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2U +2 more	GLikely benign
Select item 2191641	NM_001101426.4(CRPPA):c.934-14T>A	CRPPA, CRPPA-AS1	Single nucleotide variant (intron variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 +1 more	GUncertain significance
Select item 2175609	NM_001101426.4(CRPPA):c.981T>A (p.Leu327=)	CRPPA, CRPPA-AS1	Single nucleotide variant (synonymous variant +1 more)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 +1 more	GLikely benign
Select item 2172733	NM_001101426.4(CRPPA):c.1112T>C (p.Val371Ala)	CRPPA, CRPPA-AS1 (V371A +2 more)	Single nucleotide variant (missense variant +1 more)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 +1 more	GUncertain significance
Select item 2166936	NM_001101426.4(CRPPA):c.1251+7A>T	CRPPA, CRPPA-AS1	Single nucleotide variant (intron variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 +1 more	GLikely benign
Select item 2164629	NM_001101426.4(CRPPA):c.181G>C (p.Gly61Arg)	CRPPA, LOC129998004 (G61R)	Single nucleotide variant (missense variant +1 more)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 +1 more	GUncertain significance
Select item 2164273	NM_001101426.4(CRPPA):c.1338T>A (p.Gly446=)	CRPPA	Single nucleotide variant (synonymous variant +1 more)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 +1 more	GLikely benign
Select item 2158670	NM_001101426.4(CRPPA):c.1122T>G (p.Val374=)	CRPPA, CRPPA-AS1	Single nucleotide variant (synonymous variant +1 more)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 +1 more	GLikely benign
Select item 2158434	NM_001101426.4(CRPPA):c.257+7C>G	CRPPA	Single nucleotide variant (intron variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 +1 more	GLikely benign
Select item 2156883	NM_001101426.4(CRPPA):c.934-6T>A	CRPPA-AS1, CRPPA	Single nucleotide variant (intron variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 +1 more	GLikely benign
Select item 2154443	NM_001101426.4(CRPPA):c.888A>G (p.Lys296=)	CRPPA	Single nucleotide variant (synonymous variant +1 more)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 +1 more	GLikely benign
Select item 2154229	NM_001101426.4(CRPPA):c.706T>G (p.Phe236Val)	CRPPA (F236V +1 more)	Single nucleotide variant (missense variant +1 more)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 +1 more	GUncertain significance
Select item 2151511	NM_001101426.4(CRPPA):c.789+89A>C	CRPPA	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2U +1 more	GLikely benign
Select item 2142758	NM_001101426.4(CRPPA):c.1137dup (p.Lys380Ter)	CRPPA-AS1, CRPPA (K330* +2 more)	Duplication (nonsense +1 more)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 +1 more	GPathogenic
Select item 2141525	NM_001101426.4(CRPPA):c.121G>A (p.Gly41Arg)	CRPPA (G41R)	Single nucleotide variant (missense variant +1 more)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 +1 more	GUncertain significance
Select item 2132908	NM_001101426.4(CRPPA):c.657T>C (p.Phe219=)	CRPPA	Single nucleotide variant (synonymous variant +2 more)	Autosomal recessive limb-girdle muscular dystrophy type 2U +1 more	GLikely benign
Select item 2126699	NM_001101426.4(CRPPA):c.861A>C (p.Val287=)	CRPPA	Single nucleotide variant (synonymous variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2U +1 more	GLikely benign
Select item 2122850	NM_001101426.4(CRPPA):c.1092C>A (p.Cys364Ter)	CRPPA, CRPPA-AS1 (C329* +2 more)	Single nucleotide variant (nonsense +1 more)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 +1 more	GPathogenic
Select item 2118533	NM_001101426.4(CRPPA):c.441T>C (p.Ser147=)	CRPPA	Single nucleotide variant (synonymous variant +1 more)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 +1 more	GLikely benign
Select item 2117560	NM_001101426.4(CRPPA):c.854T>G (p.Ile285Ser)	CRPPA (I285S +2 more)	Single nucleotide variant (missense variant +1 more)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 +1 more	GUncertain significance
Select item 2112326	NM_001101426.4(CRPPA):c.784T>A (p.Trp262Arg)	CRPPA (W212R +1 more)	Single nucleotide variant (missense variant +1 more)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 +1 more	GUncertain significance
Select item 2108510	NM_001101426.4(CRPPA):c.669T>C (p.Tyr223=)	CRPPA	Single nucleotide variant (synonymous variant +2 more)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 +1 more	GLikely benign
Select item 2100998	NM_001101426.4(CRPPA):c.623A>G (p.His208Arg)	CRPPA (H208R)	Single nucleotide variant (missense variant +2 more)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 +1 more	GUncertain significance
Select item 2083847	NM_001101426.4(CRPPA):c.346C>G (p.Arg116Gly)	CRPPA (R116G)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2U +1 more	GUncertain significance
Select item 2078955	NM_001101426.4(CRPPA):c.534+1del	CRPPA	Deletion (splice donor variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 +1 more	GPathogenic
Select item 2076403	NM_001101426.4(CRPPA):c.351C>T (p.Ile117=)	CRPPA	Single nucleotide variant (synonymous variant +1 more)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 +1 more	GLikely benign
Select item 2073727	NM_001101426.4(CRPPA):c.872C>T (p.Thr291Ile)	CRPPA (T241I +2 more)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2U +1 more	GUncertain significance
Select item 2070304	NM_001101426.4(CRPPA):c.17_24dup (p.Ala9fs)	LOC129998005, CRPPA (A9fs)	Duplication (frameshift variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2U +1 more	GPathogenic
Select item 2062431	NM_001101426.4(CRPPA):c.866T>G (p.Met289Arg)	CRPPA (M239R +2 more)	Single nucleotide variant (missense variant +1 more)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 +1 more	GUncertain significance
Select item 2062422	NM_001101426.4(CRPPA):c.1120-17T>C	CRPPA, CRPPA-AS1	Single nucleotide variant (intron variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 +1 more	GLikely benign
Select item 2059999	NM_001101426.4(CRPPA):c.711A>G (p.Gly237=)	CRPPA	Single nucleotide variant (synonymous variant +1 more)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 +1 more	GLikely benign
Select item 2059962	NM_001101426.4(CRPPA):c.907G>C (p.Glu303Gln)	CRPPA (E303Q +2 more)	Single nucleotide variant (missense variant +1 more)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 +1 more	GUncertain significance
Select item 2059189	NM_001101426.4(CRPPA):c.211A>G (p.Ile71Val)	CRPPA (I71V)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GUncertain significance
Select item 2058955	NM_001101426.4(CRPPA):c.865A>G (p.Met289Val)	CRPPA (M254V +2 more)	Single nucleotide variant (missense variant +1 more)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 +1 more	GUncertain significance

<< First< Prev

Page of 5