"GeneDx"[submitter] AND "CRPPA"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58518	GRCh38/hg38 7p21.3-21.1(chr7:9975653-19356878)x1	AGMO, AGR2 +130 more	Copy number loss	See cases	GPathogenic
Select item 359576	NM_001101426.4(CRPPA):c.*321A>G	CRPPA	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 more	GBenign
Select item 909784	NM_001101426.4(CRPPA):c.*86A>G	CRPPA	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital Muscular Dystrophy, alpha-dystroglycan related +1 more	GBenign/Likely benign
Select item 359581	NM_001101426.4(CRPPA):c.*73TG[5]	CRPPA	Microsatellite (3 prime UTR variant +1 more)	Congenital Muscular Dystrophy, alpha-dystroglycan related +1 more	GBenign/Likely benign
Select item 359582	NM_001101426.4(CRPPA):c.*60G>A	CRPPA	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GBenign
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 511609	NM_001101426.4(CRPPA):c.1338T>G (p.Gly446=)	CRPPA	Single nucleotide variant (synonymous variant +1 more)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 +2 more	GLikely benign
Select item 561033	NM_001101426.4(CRPPA):c.1315G>T (p.Glu439Ter)	CRPPA (E439* +2 more)	Single nucleotide variant (nonsense +1 more)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 +1 more	GConflicting classifications of pathogenicity
Select item 1209176	NM_001101426.4(CRPPA):c.1252-46G>A	CRPPA, LOC129389757	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 672639	NM_001101426.4(CRPPA):c.1251+252G>A	CRPPA, CRPPA-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 682001	NM_001101426.4(CRPPA):c.1251+89T>A	CRPPA, CRPPA-AS1	Single nucleotide variant (intron variant)	not provided	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 385910	NM_001101426.4(CRPPA):c.1251+18C>T	CRPPA, CRPPA-AS1	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 515784	NM_001101426.4(CRPPA):c.1251+16A>T	CRPPA, CRPPA-AS1	Single nucleotide variant (intron variant)	not specified +2 more	GBenign/Likely benign
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)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 +2 more	GUncertain significance
Select item 514544	NM_001101426.4(CRPPA):c.1170C>T (p.Asn390=)	CRPPA, CRPPA-AS1	Single nucleotide variant (synonymous variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2U +2 more	GLikely benign
Select item 285719	NM_001101426.4(CRPPA):c.1161A>T (p.Lys387Asn)	CRPPA, CRPPA-AS1 (K387N +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 669339	NM_001101426.4(CRPPA):c.1120-20C>G	CRPPA, CRPPA-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1202469	NM_001101426.4(CRPPA):c.1120-132G>T	CRPPA, CRPPA-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 674306	NM_001101426.4(CRPPA):c.1120-291C>T	CRPPA, CRPPA-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1217219	NM_001101426.4(CRPPA):c.1120-297C>G	CRPPA, CRPPA-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 668916	NM_001101426.4(CRPPA):c.1120-334C>T	CRPPA, CRPPA-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 59679	GRCh38/hg38 7p21.2-15.2(chr7:16234212-26167278)x3	ABCB5, AGR2 +287 more	Copy number gain	See cases	GPathogenic
Select item 156455	NM_001101426.4(CRPPA):c.1105GTT[3] (p.Val372del)	CRPPA, CRPPA-AS1 (V372del +2 more)	Microsatellite (inframe_deletion +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2U +3 more	GPathogenic/Likely pathogenic
Select item 198765	NM_001101426.4(CRPPA):c.1059G>A (p.Lys353=)	CRPPA, CRPPA-AS1	Single nucleotide variant (synonymous variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2U +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)	Autosomal recessive limb-girdle muscular dystrophy type 2U +4 more	GConflicting classifications of pathogenicity
Select item 1680756	NM_001101426.4(CRPPA):c.1045C>A (p.Gln349Lys)	CRPPA, CRPPA-AS1 (Q299K +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 682000	NM_001101426.4(CRPPA):c.1026+111A>G	CRPPA, CRPPA-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 681997	NM_001101426.4(CRPPA):c.1026+107A>C	CRPPA, CRPPA-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
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 450705	NM_001101426.4(CRPPA):c.1026+1G>T	CRPPA-AS1, CRPPA	Single nucleotide variant (splice donor variant)	not provided	GUncertain significance
Select item 281957	NM_001101426.4(CRPPA):c.999T>C (p.Asp333=)	CRPPA, CRPPA-AS1	Single nucleotide variant (synonymous variant +1 more)	Congenital Muscular Dystrophy, alpha-dystroglycan related +3 more	GConflicting classifications of pathogenicity
Select item 432289	NM_001101426.4(CRPPA):c.978T>A (p.His326Gln)	CRPPA-AS1, CRPPA (H326Q +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 198454	NM_001101426.4(CRPPA):c.947C>A (p.Thr316Lys)	CRPPA-AS1, CRPPA (T316K +2 more)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2U +4 more	GBenign/Likely benign
Select item 1216480	NM_001101426.4(CRPPA):c.934-52T>G	CRPPA, CRPPA-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 681995	NM_001101426.4(CRPPA):c.934-130_934-129insA	CRPPA, CRPPA-AS1	Insertion (intron variant)	not provided	GBenign
Select item 1198260	NM_001101426.4(CRPPA):c.934-182_934-180del	CRPPA, CRPPA-AS1	Deletion (intron variant)	not provided	GLikely benign
Select item 1203193	NM_001101426.4(CRPPA):c.934-210A>T	CRPPA, CRPPA-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1192885	NM_001101426.4(CRPPA):c.933+223C>T	CRPPA	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1218812	NM_001101426.4(CRPPA):c.933+207C>A	CRPPA	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 682006	NM_001101426.4(CRPPA):c.933+127A>G	CRPPA	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 681999	NM_001101426.4(CRPPA):c.933+87A>G	CRPPA	Single nucleotide variant (intron variant)	not provided	GBenign
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 288847	NM_001101426.4(CRPPA):c.914T>G (p.Val305Gly)	CRPPA (V305G +2 more)	Single nucleotide variant (missense variant +1 more)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 +3 more	GUncertain significance
Select item 1305085	NM_001101426.4(CRPPA):c.899A>G (p.His300Arg)	CRPPA (H250R +2 more)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2U +2 more	GUncertain significance
Select item 373694	NM_001101426.4(CRPPA):c.895G>C (p.Gly299Arg)	CRPPA (G299R +2 more)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2U +3 more	GUncertain significance
Select item 514247	NM_001101426.4(CRPPA):c.876A>G (p.Glu292=)	CRPPA	Single nucleotide variant (synonymous variant +1 more)	Congenital Muscular Dystrophy, alpha-dystroglycan related +4 more	GConflicting classifications of pathogenicity
Select item 198120	NM_001101426.4(CRPPA):c.836-19dup	CRPPA	Duplication (intron variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 1181327	NM_001101426.4(CRPPA):c.836-83A>G	CRPPA	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1200700	NM_001101426.4(CRPPA):c.836-277C>G	CRPPA	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1221525	NM_001101426.4(CRPPA):c.835+227A>G	CRPPA	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 582317	NM_001101426.4(CRPPA):c.835+2T>C	CRPPA	Single nucleotide variant (splice donor variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 512714	NM_001101426.4(CRPPA):c.825G>A (p.Ser275=)	CRPPA	Single nucleotide variant (synonymous variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 +2 more	GConflicting classifications of pathogenicity
Select item 289678	NM_001101426.4(CRPPA):c.808C>T (p.Leu270Phe)	CRPPA (L270F +2 more)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 31568	NM_001101426.4(CRPPA):c.802C>T (p.Arg268Ter)	CRPPA (R268* +2 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2440565	NM_001101426.4(CRPPA):c.800A>T (p.Lys267Ile)	CRPPA (K217I +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 389703	NM_001101426.4(CRPPA):c.790-11C>T	CRPPA	Single nucleotide variant (intron variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 +3 more	GConflicting classifications of pathogenicity
Select item 389223	NM_001101426.4(CRPPA):c.790-14T>C	CRPPA	Single nucleotide variant (intron variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 +2 more	GBenign/Likely benign
Select item 683645	NM_001101426.4(CRPPA):c.789+321T>A	CRPPA	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 673608	NM_001101426.4(CRPPA):c.789+276C>T	CRPPA	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1261704	NM_001101426.4(CRPPA):c.789+117T>A	CRPPA	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 681994	NM_001101426.4(CRPPA):c.789+89A>G	CRPPA	Single nucleotide variant (intron variant)	Autosomal recessive limb-girdle muscular dystrophy type 2U +2 more	GBenign
Select item 681996	NM_001101426.4(CRPPA):c.789+57T>G	CRPPA	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 450877	NM_001101426.4(CRPPA):c.779A>G (p.Asp260Gly)	CRPPA (D260G +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3373741	NM_001101426.4(CRPPA):c.752A>G (p.Lys251Arg)	CRPPA (K201R +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1314044	NM_001101426.4(CRPPA):c.727T>G (p.Leu243Val)	CRPPA (L193V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
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 593707	NM_001101426.4(CRPPA):c.715G>A (p.Glu239Lys)	CRPPA (E239K +1 more)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2U +3 more	GUncertain significance
Select item 473156	NM_001101426.4(CRPPA):c.693C>A (p.Asp231Glu)	CRPPA (D231E +1 more)	Single nucleotide variant (missense variant +1 more)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 +3 more	GConflicting classifications of pathogenicity
Select item 226676	NM_001101426.4(CRPPA):c.685-25GTT[6]	CRPPA	Microsatellite (intron variant)	not specified +4 more	GBenign/Likely benign
Select item 420565	NM_001101426.4(CRPPA):c.685-19del	CRPPA	Deletion (intron variant)	not specified	GLikely benign
Select item 1219389	NM_001101426.4(CRPPA):c.685-78G>T	CRPPA	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1196965	NM_001101426.4(CRPPA):c.685-254T>C	CRPPA	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1221461	NM_001101426.4(CRPPA):c.685-275dup	CRPPA	Duplication (intron variant)	not provided	GBenign
Select item 151560	GRCh38/hg38 7p21.2(chr7:16325260-16401680)x1	CRPPA	Copy number loss	See cases	GBenign
Select item 1197308	NM_001101426.4(CRPPA):c.684+164G>C	CRPPA	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 517963	NM_001101426.4(CRPPA):c.684+12G>C	CRPPA	Single nucleotide variant (intron variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 +2 more	GLikely benign
Select item 513049	NM_001101426.4(CRPPA):c.645A>G (p.Gln215=)	CRPPA	Single nucleotide variant (synonymous variant +2 more)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 +2 more	GConflicting classifications of pathogenicity
Select item 282846	NM_001101426.4(CRPPA):c.643C>T (p.Gln215Ter)	CRPPA (Q215*)	Single nucleotide variant (nonsense +2 more)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 +2 more	GPathogenic
Select item 582562	NM_001101426.4(CRPPA):c.614G>A (p.Arg205His)	CRPPA (R205H)	Single nucleotide variant (missense variant +2 more)	Autosomal recessive limb-girdle muscular dystrophy type 2U +2 more	GConflicting classifications of pathogenicity
Select item 424305	NM_001101426.4(CRPPA):c.613C>T (p.Arg205Cys)	CRPPA (R205C)	Single nucleotide variant (missense variant +2 more)	not provided	GLikely pathogenic
Select item 289677	NM_001101426.4(CRPPA):c.551G>A (p.Arg184Gln)	CRPPA (R184Q)	Single nucleotide variant (missense variant +2 more)	Autosomal recessive limb-girdle muscular dystrophy type 2U +3 more	GConflicting classifications of pathogenicity
Select item 1803552	NM_001101426.4(CRPPA):c.540A>T (p.Ala180=)	CRPPA	Single nucleotide variant (synonymous variant +2 more)	not provided	GUncertain significance
Select item 1310392	NM_001101426.4(CRPPA):c.536C>A (p.Ala179Glu)	CRPPA (A179E)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1211076	NM_001101426.4(CRPPA):c.535-132_535-129del	CRPPA	Deletion (intron variant)	not provided	GLikely benign
Select item 1199431	NM_001101426.4(CRPPA):c.535-173dup	CRPPA	Duplication (intron variant)	not provided	GLikely benign
Select item 1191782	NM_001101426.4(CRPPA):c.535-218G>T	CRPPA	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1206552	NM_001101426.4(CRPPA):c.535-268T>A	CRPPA	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1210499	NM_001101426.4(CRPPA):c.535-279dup	CRPPA	Duplication (intron variant)	not provided	GLikely benign
Select item 1219489	NM_001101426.4(CRPPA):c.535-295A>G	CRPPA	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 226675	NM_001101426.4(CRPPA):c.534+13T>A	CRPPA	Single nucleotide variant (intron variant)	not specified +3 more	GBenign
Select item 282161	NM_001101426.4(CRPPA):c.532G>A (p.Gly178Arg)	CRPPA (G178R)	Single nucleotide variant (missense variant +1 more)	not specified +4 more	GUncertain significance
Select item 1308502	NM_001101426.4(CRPPA):c.497T>A (p.Val166Asp)	CRPPA (V166D)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
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 1302256	NM_001101426.4(CRPPA):c.376C>G (p.Arg126Gly)	CRPPA (R126G)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2U +2 more	GUncertain significance
Select item 288817	NM_001101426.4(CRPPA):c.360C>T (p.Val120=)	CRPPA	Single nucleotide variant (synonymous variant +1 more)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 598569	NM_001101426.4(CRPPA):c.347G>A (p.Arg116His)	CRPPA (R116H)	Single nucleotide variant (missense variant +1 more)	Congenital Muscular Dystrophy, alpha-dystroglycan related +4 more	GUncertain significance
Select item 359592	NM_001101426.4(CRPPA):c.346C>T (p.Arg116Cys)	CRPPA (R116C)	Single nucleotide variant (missense variant +1 more)	Congenital Muscular Dystrophy, alpha-dystroglycan related +4 more	GBenign/Likely benign
Select item 1306939	NM_001101426.4(CRPPA):c.304A>T (p.Met102Leu)	CRPPA (M102L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance

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