ClinVar for MedGen (Select 1786758) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3731283	NM_001164508.2(NEB):c.9478G>A (p.Asp3160Asn)	NEB (D3160N)	Single nucleotide variant (missense variant +1 more)	Arthrogryposis multiplex congenita 6	GUncertain significance
Select item 3731282	NM_001164508.2(NEB):c.11290-1G>A	NEB	Single nucleotide variant (splice acceptor variant)	Arthrogryposis multiplex congenita 6	GLikely pathogenic
Select item 3584471	NM_001164508.2(NEB):c.252del (p.Tyr85fs)	NEB (Y85fs)	Deletion (frameshift variant)	Arthrogryposis multiplex congenita 6 +1 more	GLikely pathogenic
Select item 3584470	NM_001164508.2(NEB):c.250_267delinsA (p.Pro84fs)	NEB (P84fs)	Indel (frameshift variant)	Arthrogryposis multiplex congenita 6 +1 more	GLikely pathogenic
Select item 3584468	NM_001164508.2(NEB):c.835G>T (p.Glu279Ter)	NEB (E279*)	Single nucleotide variant (nonsense)	Arthrogryposis multiplex congenita 6 +1 more	GLikely pathogenic
Select item 3584467	NM_001164508.2(NEB):c.927+1G>C	NEB	Single nucleotide variant (splice donor variant)	Arthrogryposis multiplex congenita 6 +1 more	GLikely pathogenic
Select item 3584466	NM_001164508.2(NEB):c.1815dup (p.Gly606fs)	NEB (G606fs)	Duplication (frameshift variant)	Arthrogryposis multiplex congenita 6 +1 more	GLikely pathogenic
Select item 3584465	NM_001164508.2(NEB):c.2056G>T (p.Glu686Ter)	NEB (E686*)	Single nucleotide variant (nonsense)	Arthrogryposis multiplex congenita 6 +1 more	GLikely pathogenic
Select item 3584464	NM_001164508.2(NEB):c.2329del (p.His777fs)	NEB (H777fs)	Deletion (frameshift variant)	Arthrogryposis multiplex congenita 6 +1 more	GLikely pathogenic
Select item 3584463	NM_001164508.2(NEB):c.2637+2T>G	NEB	Single nucleotide variant (splice donor variant)	Arthrogryposis multiplex congenita 6 +1 more	GLikely pathogenic
Select item 3584462	NM_001164508.2(NEB):c.3682_3686del (p.Tyr1228fs)	NEB (Y1228fs)	Deletion (frameshift variant)	Arthrogryposis multiplex congenita 6 +1 more	GLikely pathogenic
Select item 3584461	NM_001164508.2(NEB):c.3879+1G>C	NEB	Single nucleotide variant (splice donor variant)	Arthrogryposis multiplex congenita 6 +1 more	GLikely pathogenic
Select item 3584460	NM_001164508.2(NEB):c.3902del (p.Tyr1301fs)	NEB (Y1301fs)	Deletion (frameshift variant)	Arthrogryposis multiplex congenita 6 +1 more	GLikely pathogenic
Select item 3584459	NM_001164508.2(NEB):c.4082del (p.Val1361fs)	NEB (V1361fs)	Deletion (frameshift variant)	Arthrogryposis multiplex congenita 6 +1 more	GLikely pathogenic
Select item 3584458	NM_001164508.2(NEB):c.4897del (p.Ser1633fs)	NEB (S1633fs)	Deletion (frameshift variant)	Arthrogryposis multiplex congenita 6 +1 more	GLikely pathogenic
Select item 3584457	NM_001164508.2(NEB):c.5200C>T (p.Gln1734Ter)	NEB (Q1734*)	Single nucleotide variant (nonsense)	Arthrogryposis multiplex congenita 6 +1 more	GLikely pathogenic
Select item 3584456	NM_001164508.2(NEB):c.5349_5350del (p.Tyr1784fs)	NEB (Y1784fs)	Deletion (frameshift variant)	Arthrogryposis multiplex congenita 6 +2 more	GPathogenic/Likely pathogenic
Select item 3584455	NM_001164508.2(NEB):c.5680_5696del (p.Arg1894fs)	NEB (R1894fs)	Deletion (frameshift variant)	Arthrogryposis multiplex congenita 6 +1 more	GLikely pathogenic
Select item 3584454	NM_001164508.2(NEB):c.5764-1G>A	NEB	Single nucleotide variant (splice acceptor variant)	Arthrogryposis multiplex congenita 6 +1 more	GLikely pathogenic
Select item 3584452	NM_001164508.2(NEB):c.5818_5828del (p.Leu1940fs)	NEB (L1940fs)	Deletion (frameshift variant)	Arthrogryposis multiplex congenita 6 +1 more	GLikely pathogenic
Select item 3584451	NM_001164508.2(NEB):c.6407_6410del (p.Asn2136fs)	NEB (N2136fs)	Microsatellite (frameshift variant)	Arthrogryposis multiplex congenita 6 +1 more	GLikely pathogenic
Select item 3584450	NM_001164508.2(NEB):c.6405_6411del (p.Asn2136fs)	NEB (N2136fs)	Deletion (frameshift variant)	Arthrogryposis multiplex congenita 6 +1 more	GLikely pathogenic
Select item 3584449	NM_001164508.2(NEB):c.6487C>T (p.Gln2163Ter)	NEB (Q2163*)	Single nucleotide variant (nonsense)	Arthrogryposis multiplex congenita 6 +1 more	GLikely pathogenic
Select item 3584448	NM_001164508.2(NEB):c.6568G>T (p.Glu2190Ter)	NEB (E2190*)	Single nucleotide variant (nonsense)	Arthrogryposis multiplex congenita 6 +1 more	GLikely pathogenic
Select item 3584447	NM_001164508.2(NEB):c.6616C>T (p.Gln2206Ter)	NEB (Q2206*)	Single nucleotide variant (nonsense)	Arthrogryposis multiplex congenita 6 +1 more	GLikely pathogenic
Select item 3584446	NM_001164508.2(NEB):c.6759_6760insG (p.Thr2254fs)	NEB (T2254fs)	Insertion (frameshift variant)	Arthrogryposis multiplex congenita 6 +1 more	GLikely pathogenic
Select item 3584445	NM_001164508.2(NEB):c.6916-2A>C	NEB	Single nucleotide variant (splice acceptor variant)	Arthrogryposis multiplex congenita 6 +1 more	GLikely pathogenic
Select item 3584444	NM_001164508.2(NEB):c.7170T>A (p.Cys2390Ter)	NEB (C2390*)	Single nucleotide variant (nonsense)	Arthrogryposis multiplex congenita 6 +1 more	GLikely pathogenic
Select item 3584443	NM_001164508.2(NEB):c.8350dup (p.Ala2784fs)	NEB (A2784fs)	Duplication (frameshift variant)	Arthrogryposis multiplex congenita 6 +1 more	GLikely pathogenic
Select item 3584442	NM_001164508.2(NEB):c.9410del (p.Ser3137fs)	NEB (S3137fs)	Deletion (frameshift variant +1 more)	Arthrogryposis multiplex congenita 6 +1 more	GLikely pathogenic
Select item 3584441	NM_001164508.2(NEB):c.9507_9508dup (p.Ile3170fs)	NEB (I3170fs)	Duplication (frameshift variant +1 more)	Arthrogryposis multiplex congenita 6 +1 more	GLikely pathogenic
Select item 3584440	NM_001164508.2(NEB):c.11021dup (p.Thr3675fs)	NEB (T3675fs +1 more)	Duplication (frameshift variant)	Arthrogryposis multiplex congenita 6 +1 more	GLikely pathogenic
Select item 3584439	NM_001164508.2(NEB):c.11474_11475dup (p.Leu3826fs)	NEB (L3583fs +1 more)	Duplication (frameshift variant)	Arthrogryposis multiplex congenita 6 +1 more	GLikely pathogenic
Select item 3584438	NM_001164508.2(NEB):c.11601+2T>C	NEB	Single nucleotide variant (splice donor variant)	Arthrogryposis multiplex congenita 6 +1 more	GLikely pathogenic
Select item 3584437	NM_001164508.2(NEB):c.11948A>G (p.Lys3983Arg)	NEB (K3740R +1 more)	Single nucleotide variant (missense variant)	Arthrogryposis multiplex congenita 6 +1 more	GUncertain significance
Select item 3584436	NM_001164508.2(NEB):c.16705-1G>C	NEB	Single nucleotide variant (splice acceptor variant)	Arthrogryposis multiplex congenita 6 +1 more	GLikely pathogenic
Select item 3584435	NM_001164508.2(NEB):c.17160C>A (p.Tyr5720Ter)	NEB (Y5720* +1 more)	Single nucleotide variant (nonsense)	Arthrogryposis multiplex congenita 6 +1 more	GLikely pathogenic
Select item 3584434	NM_001164508.2(NEB):c.17314_17315del (p.Asn5772fs)	NEB (N4071fs +1 more)	Deletion (frameshift variant)	Arthrogryposis multiplex congenita 6 +1 more	GLikely pathogenic
Select item 3584433	NM_001164508.2(NEB):c.17411_17412del (p.Ala5804fs)	NEB (A5804fs +1 more)	Deletion (frameshift variant)	Arthrogryposis multiplex congenita 6 +1 more	GLikely pathogenic
Select item 3584432	NM_001164508.2(NEB):c.18157-2A>C	NEB	Single nucleotide variant (splice acceptor variant)	Arthrogryposis multiplex congenita 6 +1 more	GLikely pathogenic
Select item 3584431	NM_001164508.2(NEB):c.18372dup (p.Tyr6125fs)	NEB (Y4424fs +1 more)	Duplication (frameshift variant)	Nemaline myopathy 2 +1 more	GPathogenic/Likely pathogenic
Select item 3584430	NM_001164508.2(NEB):c.18579+1G>T	NEB	Single nucleotide variant (splice donor variant)	Arthrogryposis multiplex congenita 6 +1 more	GLikely pathogenic
Select item 3584429	NM_001164508.2(NEB):c.18694-8_18707del	NEB	Deletion (splice acceptor variant)	Arthrogryposis multiplex congenita 6 +1 more	GLikely pathogenic
Select item 3584428	NM_001164508.2(NEB):c.18892-1G>T	NEB	Single nucleotide variant (splice acceptor variant)	Arthrogryposis multiplex congenita 6 +1 more	GLikely pathogenic
Select item 3584427	NM_001164508.2(NEB):c.19428+1dup	NEB	Duplication (splice donor variant)	Arthrogryposis multiplex congenita 6 +1 more	GLikely pathogenic
Select item 3584426	NM_001164508.2(NEB):c.20050-2A>T	NEB	Single nucleotide variant (splice acceptor variant)	Arthrogryposis multiplex congenita 6 +1 more	GLikely pathogenic
Select item 3584425	NM_001164508.2(NEB):c.20088dup (p.Gly6697fs)	NEB (G6697fs +1 more)	Duplication (frameshift variant)	Arthrogryposis multiplex congenita 6 +1 more	GLikely pathogenic
Select item 3584423	NM_001164508.2(NEB):c.20674C>T (p.Gln6892Ter)	NEB (Q5191* +1 more)	Single nucleotide variant (nonsense)	Arthrogryposis multiplex congenita 6 +1 more	GLikely pathogenic
Select item 3584422	NM_001164508.2(NEB):c.21313-2A>G	NEB, RIF1	Single nucleotide variant (intron variant +1 more)	Arthrogryposis multiplex congenita 6 +1 more	GLikely pathogenic
Select item 3584421	NM_001164508.2(NEB):c.21444dup (p.Ser7149fs)	NEB, RIF1 (S5448fs +2 more)	Duplication (frameshift variant)	Arthrogryposis multiplex congenita 6 +1 more	GLikely pathogenic
Select item 3584420	NM_001164508.2(NEB):c.21631-2A>G	NEB, RIF1	Single nucleotide variant (splice acceptor variant)	Arthrogryposis multiplex congenita 6 +1 more	GLikely pathogenic
Select item 3584419	NM_001164508.2(NEB):c.22162-1G>C	NEB, RIF1	Single nucleotide variant (splice acceptor variant)	Arthrogryposis multiplex congenita 6 +1 more	GLikely pathogenic
Select item 3584417	NM_001164508.2(NEB):c.22543A>G (p.Ser7515Gly)	NEB, RIF1 (S7550G +2 more)	Single nucleotide variant (missense variant)	Arthrogryposis multiplex congenita 6 +1 more	GUncertain significance
Select item 3584416	NM_001164508.2(NEB):c.22821T>G (p.Tyr7607Ter)	NEB, RIF1 (Y7607* +2 more)	Single nucleotide variant (nonsense)	Arthrogryposis multiplex congenita 6 +1 more	GLikely pathogenic
Select item 3584415	NM_001164508.2(NEB):c.22869C>A (p.Tyr7623Ter)	NEB, RIF1 (Y5922* +2 more)	Single nucleotide variant (nonsense)	Arthrogryposis multiplex congenita 6 +1 more	GPathogenic
Select item 3584414	NM_001164508.2(NEB):c.23017-12_23022delinsAT	NEB, RIF1	Indel (splice acceptor variant)	Arthrogryposis multiplex congenita 6 +1 more	GLikely pathogenic
Select item 3584413	NM_001164508.2(NEB):c.23128-1G>A	NEB, RIF1	Single nucleotide variant (splice acceptor variant)	Arthrogryposis multiplex congenita 6 +1 more	GLikely pathogenic
Select item 3584412	NM_001164508.2(NEB):c.23341dup (p.Ser7781fs)	NEB, RIF1 (S7781fs +2 more)	Duplication (frameshift variant)	Arthrogryposis multiplex congenita 6 +1 more	GLikely pathogenic
Select item 3584411	NM_001164508.2(NEB):c.23416_23417del (p.Gln7806fs)	NEB, RIF1 (Q7841fs +2 more)	Deletion (frameshift variant)	Arthrogryposis multiplex congenita 6 +1 more	GLikely pathogenic
Select item 3584410	NM_001164508.2(NEB):c.23628_23631dup (p.Gln7878fs)	NEB, RIF1 (Q6177fs +2 more)	Microsatellite (frameshift variant)	Arthrogryposis multiplex congenita 6 +1 more	GLikely pathogenic
Select item 3584409	NM_001164508.2(NEB):c.23840dup (p.Leu7947fs)	NEB, RIF1 (L7947fs +2 more)	Duplication (frameshift variant)	Arthrogryposis multiplex congenita 6 +1 more	GLikely pathogenic
Select item 3584408	NM_001164508.2(NEB):c.23848_23852del (p.Glu7950fs)	NEB, RIF1 (E7950fs +2 more)	Deletion (frameshift variant)	Arthrogryposis multiplex congenita 6 +1 more	GLikely pathogenic
Select item 3584407	NM_001164508.2(NEB):c.24011_24014dup (p.Phe8005fs)	NEB, RIF1 (F8005fs +1 more)	Duplication (frameshift variant +1 more)	Arthrogryposis multiplex congenita 6 +1 more	GLikely pathogenic
Select item 3584406	NM_001164508.2(NEB):c.24242_24245dup (p.Leu8082fs)	NEB, RIF1 (L8082fs +1 more)	Duplication (frameshift variant +1 more)	Arthrogryposis multiplex congenita 6 +1 more	GLikely pathogenic
Select item 3584405	NM_001164508.2(NEB):c.24272_24275dup (p.Lys8092fs)	NEB, RIF1 (K8127fs +1 more)	Duplication (frameshift variant +1 more)	Arthrogryposis multiplex congenita 6 +1 more	GLikely pathogenic
Select item 3584404	NM_001164508.2(NEB):c.24358G>T (p.Glu8120Ter)	NEB, RIF1 (E8120* +1 more)	Single nucleotide variant (nonsense +1 more)	Arthrogryposis multiplex congenita 6 +1 more	GLikely pathogenic
Select item 3584403	NM_001164508.2(NEB):c.24361_24364del (p.Arg8121fs)	RIF1, NEB (R8156fs +1 more)	Microsatellite (frameshift variant +1 more)	Nemaline myopathy 2 +1 more	GPathogenic/Likely pathogenic
Select item 3584402	NM_001164508.2(NEB):c.24457_24460dup (p.Lys8154fs)	NEB, RIF1 (K6298fs +2 more)	Duplication (frameshift variant)	Arthrogryposis multiplex congenita 6 +1 more	GLikely pathogenic
Select item 3584401	NM_001164508.2(NEB):c.24510del (p.Ala8172fs)	NEB, RIF1 (A6316fs +2 more)	Deletion (frameshift variant)	Arthrogryposis multiplex congenita 6 +1 more	GLikely pathogenic
Select item 3584400	NM_001164508.2(NEB):c.24579G>T (p.Ser8193=)	NEB, RIF1	Single nucleotide variant (synonymous variant)	Arthrogryposis multiplex congenita 6 +1 more	GLikely pathogenic
Select item 3584399	NM_001164508.2(NEB):c.24590_24591del (p.Lys8197fs)	NEB, RIF1 (K8197fs +2 more)	Deletion (frameshift variant)	Arthrogryposis multiplex congenita 6 +1 more	GLikely pathogenic
Select item 3584398	NM_001164508.2(NEB):c.24920del (p.Pro8307fs)	NEB, RIF1 (P6451fs +2 more)	Deletion (frameshift variant)	Arthrogryposis multiplex congenita 6 +1 more	GLikely pathogenic
Select item 3584397	NM_001164508.2(NEB):c.25201dup (p.Ser8401fs)	NEB, RIF1 (S8401fs +2 more)	Duplication (frameshift variant)	Arthrogryposis multiplex congenita 6 +1 more	GLikely pathogenic
Select item 3584396	NM_001164508.2(NEB):c.25277dup (p.Val8427fs)	NEB, RIF1 (V8427fs +2 more)	Duplication (frameshift variant)	Arthrogryposis multiplex congenita 6 +1 more	GLikely pathogenic
Select item 3584395	NM_001164508.2(NEB):c.25576T>G (p.Ter8526Glu)	NEB, RIF1	Single nucleotide variant (stop lost)	Arthrogryposis multiplex congenita 6 +1 more	GUncertain significance
Select item 3391318	NM_001164508.2(NEB):c.4393G>T (p.Asp1465Tyr)	NEB (D1465Y)	Single nucleotide variant (missense variant)	Arthrogryposis multiplex congenita 6	GUncertain significance
Select item 3377012	NM_001164508.2(NEB):c.4366G>T (p.Glu1456Ter)	NEB (E1456*)	Single nucleotide variant (nonsense)	Arthrogryposis multiplex congenita 6	GPathogenic
Select item 3241998	NM_001164508.2(NEB):c.8222_8232del (p.Pro2741fs)	NEB (P2741fs)	Deletion (frameshift variant)	Arthrogryposis multiplex congenita 6	GLikely pathogenic
Select item 3239915	NM_001164508.2(NEB):c.17737-2A>T	NEB	Single nucleotide variant (splice acceptor variant)	Arthrogryposis multiplex congenita 6	GPathogenic
Select item 3239914	NM_001164508.2(NEB):c.39del (p.Tyr14fs)	NEB (Y14fs)	Deletion (frameshift variant)	Arthrogryposis multiplex congenita 6	GLikely pathogenic
Select item 3239913	NM_001164508.2(NEB):c.11939C>A (p.Ser3980Ter)	NEB (S3737* +1 more)	Single nucleotide variant (nonsense)	Arthrogryposis multiplex congenita 6	GLikely pathogenic
Select item 3239912	NM_001164508.2(NEB):c.14805del (p.Asn4936fs)	NEB (N4936fs)	Deletion (frameshift variant +1 more)	Arthrogryposis multiplex congenita 6	GLikely pathogenic
Select item 3239910	NM_001164508.2(NEB):c.1214_1215dup (p.Lys406fs)	NEB (K406fs)	Duplication (frameshift variant)	Arthrogryposis multiplex congenita 6	GLikely pathogenic
Select item 3239909	NM_001164508.2(NEB):c.9974G>A (p.Trp3325Ter)	NEB (W3082* +1 more)	Single nucleotide variant (nonsense)	Arthrogryposis multiplex congenita 6 +1 more	GPathogenic/Likely pathogenic
Select item 3239908	NM_001164508.2(NEB):c.10274del (p.Lys3425fs)	NEB (K3182fs +1 more)	Deletion (frameshift variant)	Arthrogryposis multiplex congenita 6	GLikely pathogenic
Select item 3239907	NM_001164508.2(NEB):c.17749G>T (p.Glu5917Ter)	NEB (E4216* +1 more)	Single nucleotide variant (nonsense)	Arthrogryposis multiplex congenita 6	GLikely pathogenic
Select item 3239906	NM_001164508.2(NEB):c.751del (p.Ala251fs)	NEB (A251fs)	Deletion (frameshift variant)	Arthrogryposis multiplex congenita 6	GLikely pathogenic
Select item 3239905	NM_001164508.2(NEB):c.2559del (p.Lys854_Met855insTer)	NEB	Deletion (frameshift variant +1 more)	Arthrogryposis multiplex congenita 6	GLikely pathogenic
Select item 3239904	NM_001164508.2(NEB):c.16490_16505del (p.Leu5497fs)	NEB (L5497fs)	Deletion (frameshift variant +1 more)	Arthrogryposis multiplex congenita 6	GLikely pathogenic
Select item 3239903	NM_001164508.2(NEB):c.5061G>A (p.Trp1687Ter)	NEB (W1687*)	Single nucleotide variant (nonsense)	Arthrogryposis multiplex congenita 6	GLikely pathogenic
Select item 3239902	NM_001164508.2(NEB):c.23533G>T (p.Glu7845Ter)	NEB, RIF1 (E6144* +2 more)	Single nucleotide variant (nonsense)	Arthrogryposis multiplex congenita 6	GLikely pathogenic
Select item 3239901	NM_001164508.2(NEB):c.24108_24112dup (p.Ser8038fs)	NEB, RIF1 (S8038fs +1 more)	Duplication (frameshift variant +1 more)	Arthrogryposis multiplex congenita 6	GLikely pathogenic
Select item 3239900	NM_001164508.2(NEB):c.7236T>A (p.Tyr2412Ter)	NEB (Y2412*)	Single nucleotide variant (nonsense)	Arthrogryposis multiplex congenita 6	GLikely pathogenic
Select item 3239899	NM_001164508.2(NEB):c.22909G>T (p.Glu7637Ter)	NEB, RIF1 (E5936* +2 more)	Single nucleotide variant (nonsense)	Nemaline myopathy +1 more	GConflicting classifications of pathogenicity
Select item 3239898	NM_001164508.2(NEB):c.18588C>G (p.Tyr6196Ter)	NEB (Y4495* +1 more)	Single nucleotide variant (nonsense)	Arthrogryposis multiplex congenita 6	GLikely pathogenic
Select item 3239897	NM_001164508.2(NEB):c.22598dup (p.Tyr7533Ter)	NEB, RIF1 (Y5832* +2 more)	Duplication (nonsense)	Arthrogryposis multiplex congenita 6	GLikely pathogenic
Select item 3239896	NM_001164508.2(NEB):c.8138dup (p.Asn2713fs)	NEB (N2713fs)	Duplication (frameshift variant)	Arthrogryposis multiplex congenita 6	GLikely pathogenic
Select item 3239895	NM_001164508.2(NEB):c.2069del (p.His690fs)	NEB (H690fs)	Deletion (frameshift variant)	Arthrogryposis multiplex congenita 6	GLikely pathogenic
Select item 3239894	NM_001164508.2(NEB):c.6612C>A (p.Tyr2204Ter)	NEB (Y2204*)	Single nucleotide variant (nonsense)	Arthrogryposis multiplex congenita 6	GLikely pathogenic
Select item 3239893	NM_001164508.2(NEB):c.16929G>A (p.Trp5643Ter)	NEB (W3942* +1 more)	Single nucleotide variant (nonsense)	Arthrogryposis multiplex congenita 6	GLikely pathogenic

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