C1850569[trait identifier] AND "Genome-Nilou Lab"[submitter] - ClinVar

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Items: 74

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 257806	NM_001164508.2(NEB):c.25405-34T>C	NEB, RIF1	Single nucleotide variant (intron variant)	not specified +3 more	GBenign
Select item 95126	NM_001164508.2(NEB):c.25204A>G (p.Ile8402Val)	NEB, RIF1 (I6546V +2 more)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign
Select item 331403	NM_001164508.2(NEB):c.25165C>T (p.Arg8389Trp)	NEB, RIF1 (R6533W +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 257804	NM_001164508.2(NEB):c.24874-47A>T	NEB, RIF1	Single nucleotide variant (intron variant)	not specified +3 more	GBenign
Select item 95122	NM_001164508.2(NEB):c.24766-18C>T	NEB, RIF1	Single nucleotide variant (intron variant)	not provided +3 more	GBenign
Select item 1184703	NM_001164508.2(NEB):c.24580-81A>G	NEB, RIF1	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 95120	NM_001164508.2(NEB):c.24433G>C (p.Ala8145Pro)	NEB, RIF1 (A6289P +2 more)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign
Select item 1184704	NM_001164508.2(NEB):c.24393+60A>C	NEB, RIF1	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 167328	NM_001164508.2(NEB):c.23267T>C (p.Met7756Thr)	NEB, RIF1 (M6055T +2 more)	Single nucleotide variant (missense variant)	Nemaline myopathy 2 +2 more	GConflicting classifications of pathogenicity
Select item 257792	NM_001164508.2(NEB):c.22800+32C>T	NEB, RIF1	Single nucleotide variant (intron variant)	Nemaline myopathy 2 +3 more	GBenign
Select item 1184705	NM_001164508.2(NEB):c.22162-108C>T	NEB, RIF1	Single nucleotide variant (intron variant)	Arthrogryposis multiplex congenita 6 +1 more	GBenign
Select item 95116	NM_001164508.2(NEB):c.22161+18G>C	NEB, RIF1	Single nucleotide variant (intron variant)	not specified +3 more	GBenign
Select item 1184706	NM_001164508.2(NEB):c.21840+82A>G	NEB, RIF1	Single nucleotide variant (intron variant)	Nemaline myopathy 2 +2 more	GBenign
Select item 95114	NM_001164508.2(NEB):c.21585A>G (p.Thr7195=)	NEB, RIF1	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign
Select item 1184639	NM_001164508.2(NEB):c.21522+78C>G	NEB, RIF1	Single nucleotide variant (intron variant)	Nemaline myopathy 2 +2 more	GBenign
Select item 129724	NM_001164508.2(NEB):c.21044C>G (p.Ser7015Cys)	NEB (S7015C +1 more)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign/Likely benign
Select item 257786	NM_001164508.2(NEB):c.20998-44A>C	NEB	Single nucleotide variant (intron variant)	Nemaline myopathy 2 +3 more	GBenign
Select item 129723	NM_001164508.2(NEB):c.20766C>T (p.Asp6922=)	NEB	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign
Select item 1184640	NM_001164508.2(NEB):c.20368-57G>A	NEB	Single nucleotide variant (intron variant)	Nemaline myopathy 2 +2 more	GBenign
Select item 257783	NM_001164508.2(NEB):c.20158-42G>A	NEB	Single nucleotide variant (intron variant)	Nemaline myopathy 2 +3 more	GBenign
Select item 1184641	NM_001164508.2(NEB):c.19731+103G>T	NEB	Single nucleotide variant (intron variant)	Nemaline myopathy 2 +2 more	GBenign
Select item 257779	NM_001164508.2(NEB):c.19314+42C>T	NEB	Single nucleotide variant (intron variant)	Nemaline myopathy 2 +3 more	GBenign
Select item 1209612	NM_001164508.2(NEB):c.18416C>T (p.Ser6139Leu)	NEB (S4438L +1 more)	Single nucleotide variant (missense variant)	Arthrogryposis multiplex congenita 6 +1 more	GUncertain significance
Select item 1184642	NM_001164508.2(NEB):c.18366+78T>C	NEB	Single nucleotide variant (intron variant)	Nemaline myopathy 2 +2 more	GBenign
Select item 95109	NM_001164508.2(NEB):c.18305G>C (p.Arg6102Thr)	NEB (R4401T +1 more)	Single nucleotide variant (missense variant)	Arthrogryposis multiplex congenita 6 +3 more	GBenign
Select item 95108	NM_001164508.2(NEB):c.18294T>C (p.Tyr6098=)	NEB	Single nucleotide variant (synonymous variant)	Arthrogryposis multiplex congenita 6 +3 more	GBenign
Select item 1184669	NM_001164508.2(NEB):c.18156+222T>A	NEB	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 1184670	NM_001164508.2(NEB):c.17535+90A>G	NEB	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 252580	NM_001164508.2(NEB):c.17497G>A (p.Val5833Ile)	NEB (V5833I +1 more)	Single nucleotide variant (missense variant)	Nemaline myopathy 2 +2 more	GConflicting classifications of pathogenicity
Select item 95106	NM_001164508.2(NEB):c.16911A>G (p.Pro5637=)	NEB	Single nucleotide variant (synonymous variant)	Arthrogryposis multiplex congenita 6 +3 more	GBenign
Select item 1184671	NM_001164508.2(NEB):c.16909-168C>T	NEB	Single nucleotide variant (intron variant)	Arthrogryposis multiplex congenita 6 +1 more	GBenign
Select item 95105	NM_001164508.2(NEB):c.16705-18C>T	NEB	Single nucleotide variant (intron variant)	Arthrogryposis multiplex congenita 6 +3 more	GBenign
Select item 1209613	NM_001164508.2(NEB):c.12394G>A (p.Glu4132Lys)	NEB (E4132K)	Single nucleotide variant (missense variant +1 more)	Nemaline myopathy 2 +1 more	GUncertain significance
Select item 257726	NM_001164508.2(NEB):c.12018+29G>A	NEB	Single nucleotide variant (intron variant)	not provided +3 more	GBenign
Select item 1184672	NM_001164508.2(NEB):c.11289+99G>A	NEB	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 257720	NM_001164508.2(NEB):c.10872+27A>C	NEB	Single nucleotide variant (intron variant)	Nemaline myopathy 2 +3 more	GBenign
Select item 95102	NM_001164508.2(NEB):c.10809G>C (p.Trp3603Cys)	NEB (W3360C +1 more)	Single nucleotide variant (missense variant)	Arthrogryposis multiplex congenita 6 +3 more	GBenign
Select item 1184707	NM_001164508.2(NEB):c.10452+71T>C	NEB	Single nucleotide variant (intron variant)	Nemaline myopathy 2 +2 more	GBenign
Select item 571623	NM_001164508.2(NEB):c.10029G>C (p.Lys3343Asn)	NEB (K3343N +1 more)	Single nucleotide variant (missense variant)	Nemaline myopathy 2 +2 more	GUncertain significance
Select item 226848	NM_001164508.2(NEB):c.9363T>C (p.Pro3121=)	NEB	Single nucleotide variant (synonymous variant +1 more)	Nemaline myopathy 2 +3 more	GBenign
Select item 226847	NM_001164508.2(NEB):c.9124T>C (p.Cys3042Arg)	NEB (C3042R)	Single nucleotide variant (missense variant +1 more)	Nemaline myopathy 2 +3 more	GBenign
Select item 129761	NM_001164508.2(NEB):c.8734T>C (p.Ser2912Pro)	NEB (S2912P)	Single nucleotide variant (missense variant)	Nemaline myopathy 2 +3 more	GBenign
Select item 1184708	NM_001164508.2(NEB):c.8161-118A>T	NEB	Single nucleotide variant (intron variant)	Arthrogryposis multiplex congenita 6 +1 more	GBenign
Select item 1184643	NM_001164508.2(NEB):c.8160+84G>A	NEB	Single nucleotide variant (intron variant)	Nemaline myopathy 2 +2 more	GBenign
Select item 1184644	NM_001164508.2(NEB):c.7957-152C>T	NEB	Single nucleotide variant (intron variant)	Arthrogryposis multiplex congenita 6 +1 more	GBenign
Select item 95137	NM_001164508.2(NEB):c.7839G>C (p.Lys2613Asn)	NEB (K2613N)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign
Select item 129756	NM_001164508.2(NEB):c.6807+6T>G	NEB	Single nucleotide variant (intron variant)	not specified +3 more	GBenign
Select item 226846	NM_001164508.2(NEB):c.6184-14T>A	NEB	Single nucleotide variant (intron variant)	Nemaline myopathy 2 +3 more	GBenign
Select item 129752	NM_001164508.2(NEB):c.5971C>T (p.His1991Tyr)	NEB (H1991Y)	Single nucleotide variant (missense variant)	Nemaline myopathy 2 +3 more	GBenign
Select item 1184645	NM_001164508.2(NEB):c.5763+281G>A	NEB	Single nucleotide variant (intron variant)	Arthrogryposis multiplex congenita 6 +1 more	GBenign
Select item 257822	NM_001164508.2(NEB):c.5763+35T>C	NEB	Single nucleotide variant (intron variant)	Nemaline myopathy 2 +3 more	GBenign
Select item 129746	NM_001164508.2(NEB):c.5370G>A (p.Glu1790=)	NEB	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign
Select item 257816	NM_001164508.2(NEB):c.5031+48A>G	NEB	Single nucleotide variant (intron variant)	Arthrogryposis multiplex congenita 6 +3 more	GBenign
Select item 1184673	NM_001164508.2(NEB):c.4611+70T>C	NEB	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 95131	NM_001164508.2(NEB):c.4471G>A (p.Val1491Met)	NEB (V1491M)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign
Select item 129744	NM_001164508.2(NEB):c.4435G>A (p.Val1479Ile)	NEB (V1479I)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign
Select item 167336	NM_001164508.2(NEB):c.3901T>C (p.Tyr1301His)	NEB (Y1301H)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign
Select item 167337	NM_001164508.2(NEB):c.3879+20G>T	NEB	Single nucleotide variant (intron variant)	Arthrogryposis multiplex congenita 6 +3 more	GBenign
Select item 196898	NM_001164508.2(NEB):c.3637G>A (p.Val1213Ile)	NEB (V1213I)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 289913	NM_001164508.2(NEB):c.3211A>C (p.Ile1071Leu)	NEB (I1071L)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 95128	NM_001164508.2(NEB):c.3081A>T (p.Lys1027Asn)	NEB (K1027N)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign
Select item 129738	NM_001164508.2(NEB):c.2944-9G>A	NEB	Single nucleotide variant (intron variant)	not specified +3 more	GBenign
Select item 167340	NM_001164508.2(NEB):c.2832C>T (p.Ser944=)	NEB	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 708605	NM_001164508.2(NEB):c.2475C>T (p.Asp825=)	NEB	Single nucleotide variant (synonymous variant)	Arthrogryposis multiplex congenita 6 +1 more	GBenign/Likely benign
Select item 1184709	NM_001164508.2(NEB):c.1675-67C>T	NEB	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 257767	NM_001164508.2(NEB):c.1674+30T>G	NEB	Single nucleotide variant (intron variant)	Nemaline myopathy 2 +3 more	GBenign
Select item 193880	NM_001164508.2(NEB):c.914A>G (p.Asp305Gly)	NEB (D305G)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign/Likely benign
Select item 95136	NM_001164508.2(NEB):c.771T>C (p.Ala257=)	NEB	Single nucleotide variant (synonymous variant)	Arthrogryposis multiplex congenita 6 +3 more	GBenign
Select item 129748	NM_001164508.2(NEB):c.571G>C (p.Glu191Gln)	NEB (E191Q)	Single nucleotide variant (missense variant)	Nemaline myopathy 2 +2 more	GConflicting classifications of pathogenicity
Select item 198810	NM_001164508.2(NEB):c.539A>G (p.Lys180Arg)	NEB (K180R)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 1184710	NM_001164508.2(NEB):c.402+101A>G	NEB	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 1184711	NM_001164508.2(NEB):c.294+52T>G	NEB	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 229041	NM_001164508.2(NEB):c.194C>T (p.Pro65Leu)	NEB (P65L)	Single nucleotide variant (missense variant)	Nemaline myopathy 2 +2 more	GConflicting classifications of pathogenicity
Select item 419871	NM_001164508.2(NEB):c.153_167dup (p.52LAQPA[3])	NEB	Duplication (inframe_insertion)	Nemaline myopathy 2 +1 more	GConflicting classifications of pathogenicity

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Items: 74