"Eurofins Ntd Llc (ga)"[submitter] AND "CRPPA"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 290733	NM_001101426.4(CRPPA):c.1307T>C (p.Leu436Ser)	CRPPA (L436S +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 290174	NM_001101426.4(CRPPA):c.1301C>T (p.Ala434Val)	CRPPA (A434V +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 594620	NM_001101426.4(CRPPA):c.1264C>T (p.Leu422=)	CRPPA, LOC129389757	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 597446	NM_001101426.4(CRPPA):c.1253A>G (p.Asp418Gly)	CRPPA, LOC129389757 (D418G +2 more)	Single nucleotide variant (missense variant +1 more)	Congenital Muscular Dystrophy, alpha-dystroglycan related +1 more	GUncertain significance
Select item 289346	NM_001101426.4(CRPPA):c.1246C>T (p.Pro416Ser)	CRPPA, CRPPA-AS1 (P416S +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 211210	NM_001101426.4(CRPPA):c.1234C>G (p.Leu412Val)	CRPPA, CRPPA-AS1 (L412V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified +3 more	GUncertain significance
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 594085	NM_001101426.4(CRPPA):c.1192G>A (p.Ala398Thr)	CRPPA, CRPPA-AS1 (A398T +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 283091	NM_001101426.4(CRPPA):c.1186G>T (p.Glu396Ter)	CRPPA-AS1, CRPPA (E396* +2 more)	Single nucleotide variant (nonsense +1 more)	not provided +1 more	GPathogenic
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 199058	NM_001101426.4(CRPPA):c.1151C>T (p.Pro384Leu)	CRPPA, CRPPA-AS1 (P384L +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 596394	NM_001101426.4(CRPPA):c.1147C>A (p.Pro383Thr)	CRPPA, CRPPA-AS1 (P383T +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 500100	NM_001101426.4(CRPPA):c.1123_1126del (p.His375fs)	CRPPA, CRPPA-AS1 (H375fs +2 more)	Deletion (frameshift variant +1 more)	not provided	GPathogenic
Select item 31561	NM_001101426.4(CRPPA):c.1120-1G>T	CRPPA, CRPPA-AS1	Single nucleotide variant (splice acceptor variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 +2 more	GPathogenic
Select item 282648	NM_001101426.4(CRPPA):c.1120-4G>A	CRPPA, CRPPA-AS1	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 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 283299	NM_001101426.4(CRPPA):c.1058A>G (p.Lys353Arg)	CRPPA, CRPPA-AS1 (K353R +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
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 497376	NM_001101426.4(CRPPA):c.1030dup (p.Thr344fs)	CRPPA-AS1, CRPPA (T294fs +2 more)	Duplication (frameshift variant +1 more)	not provided	GPathogenic
Select item 497930	NM_001101426.4(CRPPA):c.1027-7C>T	CRPPA, CRPPA-AS1	Single nucleotide variant (intron 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 291224	NM_001101426.4(CRPPA):c.991A>G (p.Ile331Val)	CRPPA, CRPPA-AS1 (I331V +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 129290	NM_001101426.4(CRPPA):c.979C>G (p.Leu327Val)	CRPPA, CRPPA-AS1 (L327V +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
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 286156	NM_001101426.4(CRPPA):c.972C>A (p.Gly324=)	CRPPA, CRPPA-AS1	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 288383	NM_001101426.4(CRPPA):c.948A>G (p.Thr316=)	CRPPA, CRPPA-AS1	Single nucleotide variant (synonymous variant +1 more)	not provided +3 more	GConflicting classifications of pathogenicity
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 286202	NM_001101426.4(CRPPA):c.934-5A>G	CRPPA, CRPPA-AS1	Single nucleotide variant (intron variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 497232	NM_001101426.4(CRPPA):c.915G>A (p.Val305=)	CRPPA	Single nucleotide variant (synonymous variant +1 more)	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 595343	NM_001101426.4(CRPPA):c.890A>C (p.His297Pro)	CRPPA (H297P +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 290098	NM_001101426.4(CRPPA):c.881A>G (p.Asp294Gly)	CRPPA (D294G +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 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 596846	NM_001101426.4(CRPPA):c.872C>A (p.Thr291Lys)	CRPPA (T291K +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 594650	NM_001101426.4(CRPPA):c.859G>A (p.Val287Ile)	CRPPA (V287I +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 284884	NM_001101426.4(CRPPA):c.840A>G (p.Arg280=)	CRPPA	Single nucleotide variant (synonymous variant +1 more)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 +2 more	GConflicting classifications of pathogenicity
Select item 283400	NM_001101426.4(CRPPA):c.839G>T (p.Arg280Ile)	CRPPA (R280I +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 198120	NM_001101426.4(CRPPA):c.836-19dup	CRPPA	Duplication (intron variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 596821	NM_001101426.4(CRPPA):c.836-9T>A	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 290676	NM_001101426.4(CRPPA):c.828T>C (p.Ile276=)	CRPPA	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
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 283650	NM_001101426.4(CRPPA):c.822A>T (p.Glu274Asp)	CRPPA (E274D +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 289095	NM_001101426.4(CRPPA):c.789+9G>A	CRPPA	Single nucleotide variant (intron variant)	not provided +2 more	GConflicting classifications of pathogenicity
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 39612	NM_001101426.4(CRPPA):c.713C>T (p.Thr238Ile)	CRPPA (T238I +1 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 226676	NM_001101426.4(CRPPA):c.685-25GTT[6]	CRPPA	Microsatellite (intron variant)	not specified +4 more	GBenign/Likely benign
Select item 502660	NM_001101426.4(CRPPA):c.677A>G (p.Tyr226Cys)	CRPPA (Y226C)	Single nucleotide variant (missense variant +2 more)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 +2 more	GConflicting classifications of pathogenicity
Select item 597396	NM_001101426.4(CRPPA):c.668A>G (p.Tyr223Cys)	CRPPA (Y223C)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
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 285826	NM_001101426.4(CRPPA):c.640C>T (p.Pro214Ser)	CRPPA (P214S)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 497567	NM_001101426.4(CRPPA):c.636A>C (p.Glu212Asp)	CRPPA (E212D)	Single nucleotide variant (missense variant +2 more)	not provided +2 more	GUncertain significance
Select item 499201	NM_001101426.4(CRPPA):c.602A>T (p.Tyr201Phe)	CRPPA (Y201F)	Single nucleotide variant (missense variant +2 more)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 +2 more	GUncertain significance
Select item 501794	NM_001101426.4(CRPPA):c.561A>G (p.Val187=)	CRPPA	Single nucleotide variant (synonymous variant +2 more)	not provided	GUncertain significance
Select item 499881	NM_001101426.4(CRPPA):c.560T>C (p.Val187Ala)	CRPPA (V187A)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
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 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 282178	NM_001101426.4(CRPPA):c.531C>T (p.His177=)	CRPPA	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 499306	NM_001101426.4(CRPPA):c.425T>A (p.Ile142Asn)	CRPPA (I142N)	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 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 +2 more	GConflicting classifications of pathogenicity
Select item 594270	NM_001101426.4(CRPPA):c.382A>G (p.Arg128Gly)	CRPPA (R128G)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 289932	NM_001101426.4(CRPPA):c.382A>C (p.Arg128=)	CRPPA	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
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 502191	NM_001101426.4(CRPPA):c.322ATT[1] (p.Ile109del)	CRPPA (I109del)	Microsatellite (inframe_deletion +1 more)	not provided	GUncertain significance
Select item 285066	NM_001101426.4(CRPPA):c.320G>T (p.Ser107Ile)	CRPPA (S107I)	Single nucleotide variant (missense variant +1 more)	Congenital Muscular Dystrophy, alpha-dystroglycan related +4 more	GUncertain significance
Select item 282644	NM_001101426.4(CRPPA):c.307G>A (p.Glu103Lys)	CRPPA (E103K)	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 31564	NM_001101426.4(CRPPA):c.277_279del (p.Ile93del)	CRPPA (I93del)	Deletion (inframe_deletion +1 more)	Muscular dystrophy-dystroglycanopathy +3 more	GPathogenic/Likely pathogenic
Select item 447580	NM_001101426.4(CRPPA):c.277A>G (p.Ile93Val)	CRPPA (I93V)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GUncertain significance
Select item 290142	NM_001101426.4(CRPPA):c.261A>G (p.Val87=)	CRPPA	Single nucleotide variant (synonymous variant +1 more)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 287941	NM_001101426.4(CRPPA):c.258-1G>C	CRPPA	Single nucleotide variant (splice acceptor variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 502190	NM_001101426.4(CRPPA):c.258-3T>G	CRPPA	Single nucleotide variant (intron variant)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 +2 more	GUncertain significance
Select item 283985	NM_001101426.4(CRPPA):c.255G>A (p.Glu85=)	CRPPA	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 290627	NM_001101426.4(CRPPA):c.248C>T (p.Ala83Val)	CRPPA (A83V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 596238	NM_001101426.4(CRPPA):c.243A>G (p.Leu81=)	CRPPA	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 290541	NM_001101426.4(CRPPA):c.239C>A (p.Thr80Asn)	CRPPA (T80N)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 497569	NM_001101426.4(CRPPA):c.221G>C (p.Arg74Thr)	CRPPA (R74T)	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 283943	NM_001101426.4(CRPPA):c.209C>G (p.Pro70Arg)	CRPPA (P70R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 287450	NM_001101426.4(CRPPA):c.200A>C (p.Gln67Pro)	CRPPA (Q67P)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 282815	NM_001101426.4(CRPPA):c.193C>T (p.Pro65Ser)	CRPPA, LOC129998004 (P65S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 282282	NM_001101426.4(CRPPA):c.191C>T (p.Thr64Ile)	CRPPA, LOC129998004 (T64I)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 423167	NM_001101426.4(CRPPA):c.184del (p.Val62fs)	CRPPA, LOC129998004 (V62fs)	Deletion (frameshift variant +1 more)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 +2 more	GPathogenic/Likely pathogenic
Select item 282814	NM_001101426.4(CRPPA):c.161G>T (p.Gly54Val)	CRPPA, LOC129998004 (G54V)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 593963	NM_001101426.4(CRPPA):c.160G>A (p.Gly54Arg)	CRPPA, LOC129998004 (G54R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 288631	NM_001101426.4(CRPPA):c.139G>A (p.Val47Met)	CRPPA, LOC129998004 (V47M)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 286035	NM_001101426.4(CRPPA):c.136G>C (p.Ala46Pro)	CRPPA, LOC129998004 (A46P)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 288180	NM_001101426.4(CRPPA):c.123G>C (p.Gly41=)	CRPPA	Single nucleotide variant (synonymous variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2U +2 more	GConflicting classifications of pathogenicity
Select item 593712	NM_001101426.4(CRPPA):c.117G>C (p.Glu39Asp)	CRPPA (E39D)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 193158	NM_001101426.4(CRPPA):c.79A>C (p.Thr27Pro)	CRPPA, LOC129998005 (T27P)	Single nucleotide variant (missense variant +1 more)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 289489	NM_001101426.4(CRPPA):c.77A>C (p.His26Pro)	CRPPA, LOC129998005 (H26P)	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 257463	NM_001101426.4(CRPPA):c.67G>T (p.Gly23Cys)	CRPPA, LOC129998005 (G23C)	Single nucleotide variant (missense variant +1 more)	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 +3 more	GBenign/Likely benign
Select item 129288	NM_001101426.4(CRPPA):c.55A>C (p.Ser19Arg)	CRPPA, LOC129998005 (S19R)	Single nucleotide variant (missense variant +1 more)	not specified +4 more	GBenign
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 286036	NM_001101426.4(CRPPA):c.52C>T (p.Leu18=)	CRPPA, LOC129998005	Single nucleotide variant (synonymous variant +1 more)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 286026	NM_001101426.4(CRPPA):c.44G>T (p.Gly15Val)	CRPPA, LOC129998005 (G15V)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance

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