C1850569[trait identifier] AND "Baylor Genetics"[submitter] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 435961	NM_001164508.2(NEB):c.25463A>G (p.Lys8488Arg)	NEB, RIF1 (K6632R +2 more)	Single nucleotide variant (missense variant)	Nemaline myopathy	GLikely benign FDA Recognized database
Select item 1452141	NM_001164508.2(NEB):c.25426_25429dup (p.Tyr8477Ter)	NEB, RIF1 (Y8512* +2 more)	Duplication (nonsense)	Nemaline myopathy 2 +1 more	GPathogenic/Likely pathogenic
Select item 449500	NM_001164508.2(NEB):c.25336C>T (p.Arg8446Ter)	NEB, RIF1 (R8481* +2 more)	Single nucleotide variant (nonsense)	Arthrogryposis multiplex congenita 6 +3 more	GPathogenic
Select item 1454699	NM_001164508.2(NEB):c.25330C>T (p.Gln8444Ter)	NEB, RIF1 (Q6588* +2 more)	Single nucleotide variant (nonsense)	Nemaline myopathy 2 +1 more	GPathogenic/Likely pathogenic
Select item 552340	NM_001164508.2(NEB):c.25297+1G>A	NEB, RIF1	Single nucleotide variant (splice donor variant)	Arthrogryposis multiplex congenita 6 +2 more	GLikely pathogenic
Select item 1459030	NM_001164508.2(NEB):c.25266C>A (p.Tyr8422Ter)	NEB, RIF1 (Y8457* +2 more)	Single nucleotide variant (nonsense)	Arthrogryposis multiplex congenita 6 +1 more	GPathogenic/Likely pathogenic
Select item 451684	NM_001164508.2(NEB):c.25183C>T (p.Arg8395Ter)	NEB, RIF1 (R8430* +2 more)	Single nucleotide variant (nonsense)	Nemaline myopathy 2 +3 more	GPathogenic/Likely pathogenic
Select item 1421987	NM_001164508.2(NEB):c.25181C>A (p.Ser8394Ter)	NEB, RIF1 (S8394* +2 more)	Single nucleotide variant (nonsense)	Nemaline myopathy 2 +1 more	GPathogenic
Select item 566656	NM_001164508.2(NEB):c.25172G>A (p.Arg8391Gln)	NEB, RIF1 (R8426Q +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 502672	NM_001164508.2(NEB):c.25141_25142del (p.Met8381fs)	NEB, RIF1 (M6525fs +2 more)	Deletion (frameshift variant)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 633334	NM_001164508.2(NEB):c.25136T>G (p.Leu8379Ter)	NEB, RIF1 (L8414* +2 more)	Single nucleotide variant (nonsense)	Arthrogryposis multiplex congenita 6 +2 more	GPathogenic
Select item 1356561	NM_001164508.2(NEB):c.25129C>T (p.Arg8377Ter)	NEB, RIF1 (R8412* +2 more)	Single nucleotide variant (nonsense)	Nemaline myopathy 2 +2 more	GPathogenic
Select item 551995	NM_001164508.2(NEB):c.25057+1G>A	NEB, RIF1	Single nucleotide variant (splice donor variant)	Arthrogryposis multiplex congenita 6 +1 more	GLikely pathogenic
Select item 816837	NM_001164508.2(NEB):c.24988C>T (p.Arg8330Ter)	NEB, RIF1 (R6474* +2 more)	Single nucleotide variant (nonsense)	Nemaline myopathy 2 +3 more	GPathogenic
Select item 1323342	NM_001164508.2(NEB):c.24946C>T (p.Arg8316Ter)	NEB, RIF1 (R6460* +2 more)	Single nucleotide variant (nonsense)	Nemaline myopathy 2 +2 more	GPathogenic/Likely pathogenic
Select item 2697656	NM_001164508.2(NEB):c.24798del (p.Gln8267fs)	NEB, RIF1 (Q6411fs +2 more)	Deletion (frameshift variant)	Arthrogryposis multiplex congenita 6 +1 more	GPathogenic/Likely pathogenic
Select item 1031199	NM_001164508.2(NEB):c.24788G>A (p.Arg8263Gln)	NEB, RIF1 (R6407Q +2 more)	Single nucleotide variant (missense variant)	Nemaline myopathy 2	GUncertain significance
Select item 552874	NM_001164508.2(NEB):c.24735_24736del (p.Arg8245fs)	NEB, RIF1 (R6389fs +2 more)	Microsatellite (frameshift variant)	Nemaline myopathy +3 more	GPathogenic/Likely pathogenic
Select item 651749	NM_001164508.2(NEB):c.24710_24731del (p.Thr8237fs)	NEB, RIF1 (T8237fs +2 more)	Deletion (frameshift variant)	Arthrogryposis multiplex congenita 6 +1 more	GPathogenic/Likely pathogenic
Select item 279999	NM_001164508.2(NEB):c.24666del (p.Phe8222fs)	NEB, RIF1 (F6366fs +2 more)	Deletion (frameshift variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 554958	NM_001164508.2(NEB):c.24639_24640del (p.Arg8214fs)	NEB, RIF1 (R6358fs +2 more)	Deletion (frameshift variant)	Nemaline myopathy 2 +1 more	GPathogenic/Likely pathogenic
Select item 432817	NM_001164508.2(NEB):c.24588C>G (p.Tyr8196Ter)	NEB, RIF1 (Y8231* +2 more)	Single nucleotide variant (nonsense)	Nemaline myopathy 2 +2 more	GPathogenic
Select item 657591	NM_001164508.2(NEB):c.24579G>C (p.Ser8193=)	NEB, RIF1	Single nucleotide variant (synonymous variant)	Nemaline myopathy 2 +1 more	GPathogenic
Select item 521691	NM_001164508.2(NEB):c.24579G>A (p.Ser8193=)	NEB, RIF1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +4 more	GPathogenic/Likely pathogenic
Select item 557774	NM_001164508.2(NEB):c.24554_24555dup (p.Arg8186fs)	NEB, RIF1 (R6330fs +2 more)	Duplication (frameshift variant)	Nemaline myopathy 2 +1 more	GPathogenic/Likely pathogenic
Select item 552108	NM_001164508.2(NEB):c.24549_24550del (p.Arg8183fs)	RIF1, NEB (R6327fs +2 more)	Microsatellite (frameshift variant)	Arthrogryposis multiplex congenita 6 +2 more	GPathogenic/Likely pathogenic
Select item 265493	NM_001164508.2(NEB):c.24527_24528del (p.Pro8176fs)	NEB, RIF1 (P6320fs +2 more)	Deletion (frameshift variant)	Abnormality of the neck +6 more	GPathogenic
Select item 1459619	NM_001164508.2(NEB):c.24503dup (p.Asn8168fs)	NEB, RIF1 (N6312fs +2 more)	Duplication (frameshift variant)	Arthrogryposis multiplex congenita 6 +1 more	GPathogenic/Likely pathogenic
Select item 496135	NM_001164508.2(NEB):c.24454C>T (p.Arg8152Ter)	NEB, RIF1 (R8187* +2 more)	Single nucleotide variant (nonsense)	Nemaline myopathy 2 +3 more	GPathogenic/Likely pathogenic
Select item 533980	NM_001164508.2(NEB):c.24395_24398dup (p.Leu8133fs)	NEB, RIF1 (L8133fs +2 more)	Duplication (frameshift variant)	Arthrogryposis multiplex congenita 6 +2 more	GPathogenic
Select item 465581	NM_001164508.2(NEB):c.24393+1G>A	NEB, RIF1	Single nucleotide variant (intron variant +1 more)	Arthrogryposis multiplex congenita 6 +1 more	GLikely pathogenic
Select item 551551	NM_001164508.2(NEB):c.24368_24371dup (p.His8124fs)	RIF1, NEB (H8124fs +1 more)	Duplication (frameshift variant +1 more)	Arthrogryposis multiplex congenita 6 +1 more	GPathogenic/Likely pathogenic
Select item 558081	NM_001164508.2(NEB):c.24363_24364del (p.Arg8121fs)	NEB, RIF1 (R8121fs +1 more)	Microsatellite (frameshift variant +1 more)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 2677107	NM_001164508.2(NEB):c.24358del (p.Glu8120fs)	NEB, RIF1 (E8120fs +1 more)	Deletion (frameshift variant +1 more)	Arthrogryposis multiplex congenita 6 +1 more	GPathogenic/Likely pathogenic
Select item 551882	NM_001164508.2(NEB):c.24353_24356dup (p.Met8119fs)	NEB, RIF1 (M8119fs +1 more)	Duplication (frameshift variant +1 more)	Arthrogryposis multiplex congenita 6 +2 more	GPathogenic/Likely pathogenic
Select item 533968	NM_001164508.2(NEB):c.24339_24342del (p.Pro8114fs)	RIF1, NEB (P8114fs +1 more)	Deletion (frameshift variant +1 more)	Arthrogryposis multiplex congenita 6 +2 more	GPathogenic/Likely pathogenic
Select item 633333	NM_001164508.2(NEB):c.24302_24305dup (p.Leu8102fs)	NEB, RIF1 (L8102fs +1 more)	Duplication (frameshift variant +1 more)	Arthrogryposis multiplex congenita 6 +3 more	GPathogenic/Likely pathogenic
Select item 551812	NM_001164508.2(NEB):c.24300+1G>A	NEB, RIF1	Single nucleotide variant (intron variant +1 more)	Arthrogryposis multiplex congenita 6 +2 more	GPathogenic/Likely pathogenic
Select item 2677091	NM_001164508.2(NEB):c.24282_24285del (p.Asn8094fs)	NEB, RIF1 (N8094fs +1 more)	Deletion (frameshift variant +1 more)	Arthrogryposis multiplex congenita 6 +1 more	GPathogenic/Likely pathogenic
Select item 558158	NM_001164508.2(NEB):c.24275_24278dup (p.His8093fs)	NEB, RIF1 (H8093fs +1 more)	Duplication (frameshift variant +1 more)	Nemaline myopathy 2 +1 more	GPathogenic/Likely pathogenic
Select item 1417880	NM_001164508.2(NEB):c.24271_24274dup (p.Lys8092fs)	NEB, RIF1 (K8092fs +1 more)	Duplication (frameshift variant +1 more)	Arthrogryposis multiplex congenita 6 +1 more	GPathogenic/Likely pathogenic
Select item 552268	NM_001164508.2(NEB):c.24267_24270del (p.Arg8090fs)	NEB, RIF1 (R8090fs +1 more)	Deletion (frameshift variant +1 more)	Nemaline myopathy 2 +1 more	GPathogenic
Select item 553511	NM_001164508.2(NEB):c.24220G>T (p.Glu8074Ter)	NEB, RIF1 (E8109* +1 more)	Single nucleotide variant (nonsense +1 more)	Arthrogryposis multiplex congenita 6 +1 more	GPathogenic/Likely pathogenic
Select item 553170	NM_001164508.2(NEB):c.24208_24212dup (p.Tyr8072fs)	NEB, RIF1 (Y8107fs +1 more)	Duplication (frameshift variant +1 more)	Arthrogryposis multiplex congenita 6 +1 more	GPathogenic/Likely pathogenic
Select item 550672	NM_001164508.2(NEB):c.24211_24212dup (p.Leu8071fs)	NEB, RIF1 (L8071fs +1 more)	Duplication (frameshift variant +1 more)	Arthrogryposis multiplex congenita 6 +1 more	GPathogenic/Likely pathogenic
Select item 465579	NM_001164508.2(NEB):c.24209_24212dup (p.Leu8071fs)	NEB, RIF1 (L8106fs +1 more)	Duplication (frameshift variant +1 more)	Arthrogryposis multiplex congenita 6 +3 more	GPathogenic/Likely pathogenic
Select item 551889	NM_001164508.2(NEB):c.24212T>A (p.Leu8071Ter)	NEB, RIF1 (L8106* +1 more)	Single nucleotide variant (nonsense +1 more)	Arthrogryposis multiplex congenita 6 +1 more	GPathogenic/Likely pathogenic
Select item 533994	NM_001164508.2(NEB):c.24189_24192dup (p.Glu8065fs)	NEB, RIF1 (E8100fs +1 more)	Duplication (frameshift variant +1 more)	Arthrogryposis multiplex congenita 6 +4 more	GPathogenic/Likely pathogenic
Select item 1073581	NM_001164508.2(NEB):c.24176_24179dup (p.Lys8061fs)	NEB, RIF1 (K8061fs +1 more)	Duplication (frameshift variant +1 more)	Arthrogryposis multiplex congenita 6 +3 more	GPathogenic/Likely pathogenic
Select item 642100	NM_001164508.2(NEB):c.24172C>T (p.Gln8058Ter)	NEB, RIF1 (Q8058* +1 more)	Single nucleotide variant (nonsense +1 more)	Arthrogryposis multiplex congenita 6 +1 more	GPathogenic/Likely pathogenic
Select item 279977	NM_001164508.2(NEB):c.24114+1G>A	NEB, RIF1	Single nucleotide variant (intron variant +1 more)	Nemaline myopathy 2 +2 more	GPathogenic/Likely pathogenic
Select item 496134	NM_001164508.2(NEB):c.24113C>A (p.Ser8038Ter)	RIF1, NEB (S8073* +1 more)	Single nucleotide variant (nonsense +1 more)	Nemaline myopathy +3 more	GPathogenic/Likely pathogenic
Select item 1430704	NM_001164508.2(NEB):c.24089_24092dup (p.His8031fs)	NEB, RIF1 (H8031fs +1 more)	Duplication (frameshift variant +1 more)	Nemaline myopathy 2 +2 more	GPathogenic/Likely pathogenic
Select item 555293	NM_001164508.2(NEB):c.24024_24028dup (p.Tyr8010fs)	NEB, RIF1 (Y8010fs +1 more)	Duplication (frameshift variant +1 more)	Nemaline myopathy 2 +1 more	GPathogenic/Likely pathogenic
Select item 553437	NM_001164508.2(NEB):c.24022-1G>A	NEB, RIF1	Single nucleotide variant (intron variant +1 more)	Arthrogryposis multiplex congenita 6 +1 more	GLikely pathogenic
Select item 557756	NM_001164508.2(NEB):c.24014_24015dup (p.Ser8006fs)	NEB, RIF1 (S8006fs +1 more)	Duplication (frameshift variant +1 more)	Arthrogryposis multiplex congenita 6 +1 more	GConflicting classifications of pathogenicity
Select item 1068470	NM_001164508.2(NEB):c.24003_24006dup (p.Glu8003fs)	NEB, RIF1 (E8003fs +1 more)	Microsatellite (frameshift variant +1 more)	Arthrogryposis multiplex congenita 6 +1 more	GPathogenic/Likely pathogenic
Select item 1073497	NM_001164508.2(NEB):c.23998_24002dup (p.Gln8002fs)	NEB, RIF1 (Q8002fs +1 more)	Duplication (frameshift variant +1 more)	Arthrogryposis multiplex congenita 6 +2 more	GPathogenic/Likely pathogenic
Select item 1356551	NM_001164508.2(NEB):c.23998_24001dup (p.Asn8001fs)	NEB, RIF1 (N8001fs +1 more)	Duplication (frameshift variant +1 more)	Nemaline myopathy 2 +1 more	GPathogenic/Likely pathogenic
Select item 1385740	NM_001164508.2(NEB):c.23998_24001del (p.Leu8000fs)	NEB, RIF1 (L8000fs +1 more)	Deletion (frameshift variant +1 more)	Nemaline myopathy 2 +1 more	GPathogenic/Likely pathogenic
Select item 373977	NM_001164508.2(NEB):c.23989C>T (p.Arg7997Ter)	NEB, RIF1 (R8032* +1 more)	Single nucleotide variant (nonsense +1 more)	Nemaline myopathy 2 +6 more	GPathogenic/Likely pathogenic
Select item 465574	NM_001164508.2(NEB):c.23967_23970del (p.Pro7990fs)	NEB, RIF1 (P7990fs +1 more)	Deletion (frameshift variant +1 more)	Arthrogryposis multiplex congenita 6 +2 more	GConflicting classifications of pathogenicity
Select item 953147	NM_001164508.2(NEB):c.23967dup (p.Pro7990fs)	NEB, RIF1 (P7990fs +1 more)	Duplication (frameshift variant +1 more)	Arthrogryposis multiplex congenita 6 +1 more	GPathogenic/Likely pathogenic
Select item 2677045	NM_001164508.2(NEB):c.23878_23881dup (p.Thr7961fs)	NEB, RIF1 (T6260fs +2 more)	Duplication (frameshift variant)	Arthrogryposis multiplex congenita 6 +1 more	GPathogenic
Select item 2677013	NM_001164508.2(NEB):c.23836-1G>A	NEB, RIF1	Single nucleotide variant (splice acceptor variant)	Arthrogryposis multiplex congenita 6 +1 more	GLikely pathogenic
Select item 1031198	NM_001164508.2(NEB):c.23835+20A>G	NEB, RIF1	Single nucleotide variant (intron variant)	Nemaline myopathy 2	GUncertain significance
Select item 1072267	NM_001164508.2(NEB):c.23805_23806del (p.Arg7935fs)	NEB, RIF1 (R6234fs +2 more)	Microsatellite (frameshift variant)	Nemaline myopathy 2 +1 more	GPathogenic
Select item 1378986	NM_001164508.2(NEB):c.23786dup (p.Thr7930fs)	NEB, RIF1 (T6229fs +2 more)	Duplication (frameshift variant)	Arthrogryposis multiplex congenita 6 +1 more	GPathogenic/Likely pathogenic
Select item 167327	NM_001164508.2(NEB):c.23763G>C (p.Leu7921Phe)	NEB, RIF1 (L6220F +2 more)	Single nucleotide variant (missense variant)	Nemaline myopathy 2 +1 more	GConflicting classifications of pathogenicity
Select item 375408	NM_001164508.2(NEB):c.23742+2T>C	NEB, RIF1	Single nucleotide variant (splice donor variant)	Arthrogryposis multiplex congenita 6 +3 more	GConflicting classifications of pathogenicity
Select item 1908252	NM_001164508.2(NEB):c.23650-2A>T	NEB, RIF1	Single nucleotide variant (splice acceptor variant)	Arthrogryposis multiplex congenita 6 +1 more	GLikely pathogenic
Select item 646106	NM_001164508.2(NEB):c.23626C>T (p.Gln7876Ter)	NEB, RIF1 (Q7876* +2 more)	Single nucleotide variant (nonsense)	Nemaline myopathy 2 +1 more	GPathogenic/Likely pathogenic
Select item 534005	NM_001164508.2(NEB):c.23524C>T (p.Arg7842Cys)	NEB, RIF1 (R7877C +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 594174	NM_001164508.2(NEB):c.23496_23499del (p.Val7833fs)	NEB, RIF1 (V7868fs +2 more)	Deletion (frameshift variant)	Arthrogryposis multiplex congenita 6 +2 more	GPathogenic/Likely pathogenic
Select item 450098	NM_001164508.2(NEB):c.23477A>G (p.Asn7826Ser)	NEB, RIF1 (N7861S +2 more)	Single nucleotide variant (missense variant)	Nemaline myopathy 2 +2 more	GConflicting classifications of pathogenicity
Select item 558659	NM_001164508.2(NEB):c.23451+1G>T	NEB, RIF1	Single nucleotide variant (splice donor variant)	Arthrogryposis multiplex congenita 6 +1 more	GLikely pathogenic
Select item 557373	NM_001164508.2(NEB):c.23451+1G>C	NEB, RIF1	Single nucleotide variant (splice donor variant)	Arthrogryposis multiplex congenita 6 +1 more	GLikely pathogenic
Select item 2897664	NM_001164508.2(NEB):c.23387del (p.Tyr7796fs)	NEB, RIF1 (Y7796fs +2 more)	Deletion (frameshift variant)	Arthrogryposis multiplex congenita 6 +1 more	GPathogenic/Likely pathogenic
Select item 623342	NM_001164508.2(NEB):c.23351dup (p.Tyr7785fs)	NEB, RIF1 (Y6084fs +2 more)	Duplication (frameshift variant)	Nemaline myopathy 2 +1 more	GPathogenic/Likely pathogenic
Select item 2677071	NM_001164508.2(NEB):c.23347-2A>G	NEB, RIF1	Single nucleotide variant (splice acceptor variant)	Arthrogryposis multiplex congenita 6 +1 more	GLikely pathogenic
Select item 1031197	NM_001164508.2(NEB):c.23242-3C>G	NEB, RIF1	Single nucleotide variant (intron variant)	Nemaline myopathy 2	GUncertain significance
Select item 801764	NM_001164508.2(NEB):c.23140C>T (p.Arg7714Ter)	NEB, RIF1 (R7714* +2 more)	Single nucleotide variant (nonsense)	Arthrogryposis multiplex congenita 6 +2 more	GPathogenic/Likely pathogenic
Select item 1897985	NM_001164508.2(NEB):c.23127+2T>A	NEB, RIF1	Single nucleotide variant (splice donor variant)	Nemaline myopathy 2 +1 more	GLikely pathogenic
Select item 331413	NM_001164508.2(NEB):c.23127+2T>C	RIF1, NEB	Single nucleotide variant (splice donor variant)	Nemaline myopathy 2 +1 more	GLikely pathogenic
Select item 465569	NM_001164508.2(NEB):c.22906-6C>T	NEB, RIF1	Single nucleotide variant (intron variant)	Nemaline myopathy 2	GConflicting classifications of pathogenicity
Select item 918157	NM_001164508.2(NEB):c.22831C>T (p.Arg7611Ter)	NEB, RIF1 (R5910* +2 more)	Single nucleotide variant (nonsense)	Nemaline myopathy 2 +3 more	GPathogenic
Select item 510426	NM_001164508.2(NEB):c.22800+9A>G	NEB, RIF1	Single nucleotide variant (intron variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 553704	NM_001164508.2(NEB):c.22800+1G>A	NEB, RIF1	Single nucleotide variant (splice donor variant)	Arthrogryposis multiplex congenita 6 +2 more	GPathogenic/Likely pathogenic
Select item 2677031	NM_001164508.2(NEB):c.22792_22793del (p.Gln7598fs)	NEB, RIF1 (Q5897fs +2 more)	Deletion (frameshift variant)	Arthrogryposis multiplex congenita 6 +1 more	GPathogenic/Likely pathogenic
Select item 2677126	NM_001164508.2(NEB):c.22597_22601del (p.Tyr7533fs)	NEB, RIF1 (Y5832fs +2 more)	Deletion (frameshift variant)	Arthrogryposis multiplex congenita 6 +1 more	GPathogenic/Likely pathogenic
Select item 550749	NM_001164508.2(NEB):c.22591-1G>C	NEB, RIF1	Single nucleotide variant (splice acceptor variant)	Arthrogryposis multiplex congenita 6 +1 more	GPathogenic/Likely pathogenic
Select item 451052	NM_001164508.2(NEB):c.22590+2T>C	NEB, RIF1	Single nucleotide variant (splice donor variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 556650	NM_001164508.2(NEB):c.22489C>T (p.Arg7497Ter)	NEB, RIF1 (R7532* +2 more)	Single nucleotide variant (nonsense)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 2018028	NM_001164508.2(NEB):c.22375-1G>C	NEB, RIF1	Single nucleotide variant (splice acceptor variant)	Arthrogryposis multiplex congenita 6 +1 more	GLikely pathogenic
Select item 1482794	NM_001164508.2(NEB):c.22375-1G>A	NEB, RIF1	Single nucleotide variant (splice acceptor variant)	Nemaline myopathy 2 +1 more	GLikely pathogenic
Select item 418382	NM_001164508.2(NEB):c.22370G>C (p.Ser7457Thr)	NEB, RIF1 (S7492T +2 more)	Single nucleotide variant (missense variant)	Nemaline myopathy 2 +1 more	GConflicting classifications of pathogenicity
Select item 801766	NM_001164508.2(NEB):c.22327C>T (p.Arg7443Ter)	NEB, RIF1 (R5742* +2 more)	Single nucleotide variant (nonsense)	Arthrogryposis multiplex congenita 6 +1 more	GPathogenic/Likely pathogenic
Select item 1489467	NM_001164508.2(NEB):c.22272+2_22272+3del	NEB, RIF1	Deletion (splice donor variant)	Arthrogryposis multiplex congenita 6 +1 more	GLikely pathogenic
Select item 801767	NM_001164508.2(NEB):c.22272+2dup	NEB, RIF1	Duplication (splice donor variant)	Arthrogryposis multiplex congenita 6 +1 more	GConflicting classifications of pathogenicity
Select item 1919295	NM_001164508.2(NEB):c.22272+1G>A	NEB, RIF1	Single nucleotide variant (splice donor variant)	Arthrogryposis multiplex congenita 6 +1 more	GLikely pathogenic

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