ClinVar for MedGen (Select 478062) - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Links from MedGen

Items: 1 to 100 of 108

<< First< Prev

Page of 2

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3338690	NFU1, 55.6-KB DEL, EX4-8DEL	NFU1	Deletion	Multiple mitochondrial dysfunctions syndrome 1	GPathogenic
Select item 3338689	NM_001002755.4(NFU1):c.62G>C (p.Arg21Pro)	LOC129934004, NFU1 (R21P)	Single nucleotide variant (missense variant +3 more)	Multiple mitochondrial dysfunctions syndrome 1	GPathogenic
Select item 3020305	NM_001002755.4(NFU1):c.313A>C (p.Arg105=)	NFU1	Single nucleotide variant (synonymous variant +2 more)	Multiple mitochondrial dysfunctions syndrome 1	GLikely benign
Select item 3015372	NM_001002755.4(NFU1):c.581A>G (p.Tyr194Cys)	NFU1 (Y194C +2 more)	Single nucleotide variant (missense variant +1 more)	Multiple mitochondrial dysfunctions syndrome 1	GUncertain significance
Select item 2904913	NM_001002755.4(NFU1):c.484+7T>A	NFU1	Single nucleotide variant (intron variant)	Multiple mitochondrial dysfunctions syndrome 1	GLikely benign
Select item 2874737	NM_001002755.4(NFU1):c.708A>G (p.Glu236=)	NFU1	Single nucleotide variant (synonymous variant +1 more)	Multiple mitochondrial dysfunctions syndrome 1	GLikely benign
Select item 2854814	NM_001002755.4(NFU1):c.499G>A (p.Asp167Asn)	NFU1 (D167N +2 more)	Single nucleotide variant (missense variant +1 more)	Multiple mitochondrial dysfunctions syndrome 1	GUncertain significance
Select item 2854424	NM_001002755.4(NFU1):c.207A>G (p.Pro69=)	NFU1	Single nucleotide variant (synonymous variant +1 more)	Multiple mitochondrial dysfunctions syndrome 1	GLikely benign
Select item 2754709	NM_001002755.4(NFU1):c.68G>A (p.Cys23Tyr)	NFU1 (C23Y)	Single nucleotide variant (missense variant +2 more)	Multiple mitochondrial dysfunctions syndrome 1	GUncertain significance
Select item 2733210	NM_001002755.4(NFU1):c.370-8G>A	NFU1	Single nucleotide variant (intron variant)	Multiple mitochondrial dysfunctions syndrome 1	GLikely benign
Select item 2202594	NM_001002755.4(NFU1):c.526T>C (p.Leu176=)	NFU1	Single nucleotide variant (synonymous variant +1 more)	Multiple mitochondrial dysfunctions syndrome 1	GLikely benign
Select item 2187429	NM_001002755.4(NFU1):c.199C>G (p.Pro67Ala)	NFU1 (P67A +1 more)	Single nucleotide variant (missense variant +1 more)	Multiple mitochondrial dysfunctions syndrome 1	GUncertain significance
Select item 2187224	NM_001002755.4(NFU1):c.107C>T (p.Pro36Leu)	NFU1 (P36L +1 more)	Single nucleotide variant (missense variant +2 more)	Multiple mitochondrial dysfunctions syndrome 1	GUncertain significance
Select item 2177062	NM_001002755.4(NFU1):c.4G>A (p.Ala2Thr)	LOC129934004, NFU1 (A2T)	Single nucleotide variant (missense variant +3 more)	Multiple mitochondrial dysfunctions syndrome 1	GUncertain significance
Select item 2168551	NM_001002755.4(NFU1):c.324A>C (p.Gly108=)	NFU1	Single nucleotide variant (synonymous variant +2 more)	Multiple mitochondrial dysfunctions syndrome 1	GLikely benign
Select item 2168043	NM_001002755.4(NFU1):c.302+15dup	NFU1	Duplication (intron variant)	Multiple mitochondrial dysfunctions syndrome 1	GBenign
Select item 2161760	NM_001002755.4(NFU1):c.283T>C (p.Phe95Leu)	NFU1 (F71L +1 more)	Single nucleotide variant (missense variant +1 more)	Multiple mitochondrial dysfunctions syndrome 1	GUncertain significance
Select item 2151324	NM_001002755.4(NFU1):c.303-18T>G	NFU1	Single nucleotide variant (intron variant)	Multiple mitochondrial dysfunctions syndrome 1	GUncertain significance
Select item 2141241	NM_001002755.4(NFU1):c.370-7T>C	NFU1	Single nucleotide variant (intron variant)	Multiple mitochondrial dysfunctions syndrome 1	GLikely benign
Select item 2135260	NM_001002755.4(NFU1):c.303-4G>A	NFU1	Single nucleotide variant (intron variant)	Multiple mitochondrial dysfunctions syndrome 1	GLikely benign
Select item 2125692	NM_001002755.4(NFU1):c.498TGA[1] (p.Asp167del)	NFU1 (D143del +2 more)	Microsatellite (inframe_deletion +1 more)	Multiple mitochondrial dysfunctions syndrome 1	GUncertain significance
Select item 2118211	NM_001002755.4(NFU1):c.63-4G>A	NFU1	Single nucleotide variant (intron variant)	Multiple mitochondrial dysfunctions syndrome 1	GLikely benign
Select item 2118008	NM_001002755.4(NFU1):c.39T>G (p.Ala13=)	LOC129934004, NFU1	Single nucleotide variant (synonymous variant +3 more)	Multiple mitochondrial dysfunctions syndrome 1	GLikely benign
Select item 2090343	NM_001002755.4(NFU1):c.303-19A>T	NFU1	Single nucleotide variant (intron variant)	Multiple mitochondrial dysfunctions syndrome 1	GLikely benign
Select item 2065252	NM_001002755.4(NFU1):c.485-20T>A	NFU1	Single nucleotide variant (intron variant)	Multiple mitochondrial dysfunctions syndrome 1	GLikely benign
Select item 2026671	NM_001002755.4(NFU1):c.19C>A (p.Arg7=)	LOC129934004, NFU1	Single nucleotide variant (synonymous variant +3 more)	Multiple mitochondrial dysfunctions syndrome 1	GLikely benign
Select item 2008834	NM_001002755.4(NFU1):c.166+3A>G	NFU1	Single nucleotide variant (intron variant)	Multiple mitochondrial dysfunctions syndrome 1	GUncertain significance
Select item 1999329	NM_001002755.4(NFU1):c.86C>T (p.Pro29Leu)	NFU1 (P29L +1 more)	Single nucleotide variant (missense variant +2 more)	Multiple mitochondrial dysfunctions syndrome 1	GUncertain significance
Select item 1986898	NM_001002755.4(NFU1):c.430T>G (p.Phe144Val)	NFU1 (F3V +2 more)	Single nucleotide variant (missense variant +1 more)	Multiple mitochondrial dysfunctions syndrome 1	GUncertain significance
Select item 1975030	NM_001002755.4(NFU1):c.240T>A (p.Val80=)	NFU1	Single nucleotide variant (synonymous variant +1 more)	Multiple mitochondrial dysfunctions syndrome 1	GLikely benign
Select item 1968722	NM_001002755.4(NFU1):c.546G>A (p.Arg182=)	NFU1	Single nucleotide variant (synonymous variant +1 more)	Multiple mitochondrial dysfunctions syndrome 1	GUncertain significance
Select item 1939947	NM_001002755.4(NFU1):c.62+12G>A	LOC129934004, NFU1	Single nucleotide variant (5 prime UTR variant +1 more)	Multiple mitochondrial dysfunctions syndrome 1	GLikely benign
Select item 1938422	NM_001002755.4(NFU1):c.697C>A (p.Pro233Thr)	NFU1 (P209T +2 more)	Single nucleotide variant (missense variant +1 more)	Multiple mitochondrial dysfunctions syndrome 1	GUncertain significance
Select item 1911725	NM_001002755.4(NFU1):c.359C>A (p.Thr120Asn)	NFU1 (T120N +1 more)	Single nucleotide variant (missense variant +2 more)	Multiple mitochondrial dysfunctions syndrome 1	GUncertain significance
Select item 1905628	NM_001002755.4(NFU1):c.733G>A (p.Glu245Lys)	NFU1 (E245K +2 more)	Single nucleotide variant (missense variant +1 more)	Multiple mitochondrial dysfunctions syndrome 1	GUncertain significance
Select item 1716400	NM_001002755.4(NFU1):c.290C>G (p.Ser97Cys)	NFU1 (S73C +1 more)	Single nucleotide variant (missense variant +1 more)	Multiple mitochondrial dysfunctions syndrome 1	GUncertain significance
Select item 1712751	NM_001002755.4(NFU1):c.302+3A>G	NFU1	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1702760	NM_001002755.4(NFU1):c.497A>G (p.Asp166Gly)	NFU1 (D142G +2 more)	Single nucleotide variant (missense variant +1 more)	Multiple mitochondrial dysfunctions syndrome 1 +1 more	GUncertain significance
Select item 1699544	NM_001002755.4(NFU1):c.287G>A (p.Arg96His)	NFU1 (R72H +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1667160	NM_001002755.4(NFU1):c.370-4A>T	NFU1	Single nucleotide variant (intron variant)	Multiple mitochondrial dysfunctions syndrome 1	GLikely benign
Select item 1659250	NM_001002755.4(NFU1):c.370-4A>G	NFU1	Single nucleotide variant (intron variant)	Multiple mitochondrial dysfunctions syndrome 1	GLikely benign
Select item 1594501	NM_001002755.4(NFU1):c.485-8_485-5del	NFU1	Deletion (intron variant)	Multiple mitochondrial dysfunctions syndrome 1	GLikely benign
Select item 1580457	NM_001002755.4(NFU1):c.721-8G>C	NFU1	Single nucleotide variant (intron variant)	Multiple mitochondrial dysfunctions syndrome 1	GLikely benign
Select item 1569288	NM_001002755.4(NFU1):c.69T>C (p.Cys23=)	NFU1	Single nucleotide variant (synonymous variant +2 more)	Multiple mitochondrial dysfunctions syndrome 1	GLikely benign
Select item 1537854	NM_001002755.4(NFU1):c.62+14C>G	LOC129934004, NFU1	Single nucleotide variant (5 prime UTR variant +1 more)	Multiple mitochondrial dysfunctions syndrome 1	GLikely benign
Select item 1521113	NM_001002755.4(NFU1):c.8C>G (p.Ala3Gly)	LOC129934004, NFU1 (A3G)	Single nucleotide variant (missense variant +3 more)	Multiple mitochondrial dysfunctions syndrome 1	GUncertain significance
Select item 1517241	NM_001002755.4(NFU1):c.636C>G (p.Ser212Arg)	NFU1 (S212R +2 more)	Single nucleotide variant (missense variant +1 more)	Multiple mitochondrial dysfunctions syndrome 1	GUncertain significance
Select item 1510906	NM_001002755.4(NFU1):c.154T>G (p.Phe52Val)	NFU1 (F52V +1 more)	Single nucleotide variant (missense variant +2 more)	Multiple mitochondrial dysfunctions syndrome 1 +1 more	GUncertain significance
Select item 1509047	NM_001002755.4(NFU1):c.545+4C>T	NFU1	Single nucleotide variant (intron variant)	Multiple mitochondrial dysfunctions syndrome 1	GUncertain significance
Select item 1445809	NM_001002755.4(NFU1):c.546-16T>G	NFU1	Single nucleotide variant (intron variant)	Multiple mitochondrial dysfunctions syndrome 1	GLikely benign
Select item 1444505	NM_001002755.4(NFU1):c.369+4A>C	NFU1	Single nucleotide variant (intron variant)	Multiple mitochondrial dysfunctions syndrome 1	GUncertain significance
Select item 1413449	NM_001002755.4(NFU1):c.371A>G (p.Glu124Gly)	NFU1 (E100G +1 more)	Single nucleotide variant (missense variant +2 more)	Multiple mitochondrial dysfunctions syndrome 1	GUncertain significance
Select item 1412325	NM_001002755.4(NFU1):c.20G>T (p.Arg7Leu)	LOC129934004, NFU1 (R7L)	Single nucleotide variant (missense variant +3 more)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 1410977	NM_001002755.4(NFU1):c.720+4T>A	NFU1	Single nucleotide variant (intron variant)	Multiple mitochondrial dysfunctions syndrome 1	GUncertain significance
Select item 1342045	NM_001002755.4(NFU1):c.17G>A (p.Arg6Lys)	LOC129934004, NFU1 (R6K)	Single nucleotide variant (missense variant +3 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1285477	NM_001002755.4(NFU1):c.545G>T (p.Arg182Leu)	NFU1 (R158L +2 more)	Single nucleotide variant (missense variant +1 more)	Multiple mitochondrial dysfunctions syndrome 1	GLikely pathogenic
Select item 1285476	NM_001002755.4(NFU1):c.565G>A (p.Gly189Arg)	NFU1 (G165R +2 more)	Single nucleotide variant (missense variant +1 more)	Multiple mitochondrial dysfunctions syndrome 1	GLikely pathogenic
Select item 1229286	NM_001002755.4(NFU1):c.699G>A (p.Pro233=)	NFU1	Single nucleotide variant (synonymous variant +1 more)	Multiple mitochondrial dysfunctions syndrome 1 +1 more	GBenign/Likely benign
Select item 1188711	NM_001002755.4(NFU1):c.528G>A (p.Leu176=)	NFU1	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 1084193	NM_001002755.4(NFU1):c.300T>C (p.Ala100=)	NFU1	Single nucleotide variant (synonymous variant +1 more)	Multiple mitochondrial dysfunctions syndrome 1	GLikely benign
Select item 1053699	NM_001002755.4(NFU1):c.373A>G (p.Asn125Asp)	NFU1 (N101D +1 more)	Single nucleotide variant (missense variant +2 more)	Multiple mitochondrial dysfunctions syndrome 1	GUncertain significance
Select item 1031688	NM_001002755.4(NFU1):c.545G>A (p.Arg182Gln)	NFU1 (R182Q +2 more)	Single nucleotide variant (missense variant +1 more)	Multiple mitochondrial dysfunctions syndrome 1	GLikely pathogenic
Select item 1027130	NM_001002755.4(NFU1):c.698C>T (p.Pro233Leu)	NFU1 (P209L +2 more)	Single nucleotide variant (missense variant +1 more)	Multiple mitochondrial dysfunctions syndrome 1	GUncertain significance
Select item 945986	NM_001002755.4(NFU1):c.145C>A (p.Pro49Thr)	NFU1 (P25T +1 more)	Single nucleotide variant (missense variant +2 more)	Multiple mitochondrial dysfunctions syndrome 1	GUncertain significance
Select item 899274	NM_001002755.2(NFU1):c.-134A>G	NFU1	Single nucleotide variant (5 prime UTR variant +1 more)	Multiple mitochondrial dysfunctions syndrome 1	GUncertain significance
Select item 899273	NM_001002755.2(NFU1):c.-41C>T	NFU1	Single nucleotide variant (5 prime UTR variant +1 more)	Multiple mitochondrial dysfunctions syndrome 1	GUncertain significance
Select item 899272	NM_001002755.4(NFU1):c.-7G>A	LOC129934004, NFU1	Single nucleotide variant (5 prime UTR variant +2 more)	Multiple mitochondrial dysfunctions syndrome 1	GUncertain significance
Select item 898174	NM_001002755.4(NFU1):c.12G>A (p.Thr4=)	LOC129934004, NFU1	Single nucleotide variant (synonymous variant +3 more)	Multiple mitochondrial dysfunctions syndrome 1	GUncertain significance
Select item 898173	NM_001002755.4(NFU1):c.84T>A (p.Asn28Lys)	NFU1 (N28K +1 more)	Single nucleotide variant (missense variant +2 more)	Multiple mitochondrial dysfunctions syndrome 1	GUncertain significance
Select item 896543	NM_001002755.4(NFU1):c.332G>T (p.Ser111Ile)	NFU1 (S87I +1 more)	Single nucleotide variant (missense variant +2 more)	Multiple mitochondrial dysfunctions syndrome 1	GUncertain significance
Select item 895184	NM_001002755.2(NFU1):c.-179C>G	NFU1	Single nucleotide variant (5 prime UTR variant +1 more)	Multiple mitochondrial dysfunctions syndrome 1	GUncertain significance
Select item 804384	NM_001002755.4(NFU1):c.485-1G>C	NFU1	Single nucleotide variant (splice acceptor variant)	Multiple mitochondrial dysfunctions syndrome 1	GLikely pathogenic
Select item 764460	NM_001002755.4(NFU1):c.545+7G>T	NFU1	Single nucleotide variant (intron variant)	Multiple mitochondrial dysfunctions syndrome 1	GLikely benign
Select item 668493	NM_001002755.4(NFU1):c.545+11C>T	NFU1	Single nucleotide variant (intron variant)	Multiple mitochondrial dysfunctions syndrome 1 +1 more	GLikely benign
Select item 667539	NM_001002755.4(NFU1):c.546-16T>C	NFU1	Single nucleotide variant (intron variant)	Multiple mitochondrial dysfunctions syndrome 1 +1 more	GLikely benign
Select item 647954	NC_000002.11:g.(?_69627476)_(69627690_?)dup	NFU1	Duplication	Multiple mitochondrial dysfunctions syndrome 1	GLikely pathogenic
Select item 539328	NM_001002755.4(NFU1):c.545+9T>C	NFU1	Single nucleotide variant (intron variant)	Multiple mitochondrial dysfunctions syndrome 1 +1 more	GLikely benign
Select item 511601	NM_001002755.4(NFU1):c.303-19A>G	NFU1	Single nucleotide variant (intron variant)	Multiple mitochondrial dysfunctions syndrome 1 +1 more	GLikely benign
Select item 488564	NM_001002755.4(NFU1):c.544C>T (p.Arg182Trp)	NFU1 (R182W +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 488563	NM_001002755.4(NFU1):c.545+5G>A	NFU1	Single nucleotide variant (intron variant)	not provided +1 more	GPathogenic
Select item 418385	NM_001002755.4(NFU1):c.676A>G (p.Asn226Asp)	NFU1 (N226D +2 more)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 383295	NM_001002755.4(NFU1):c.62+14C>T	LOC129934004, NFU1	Single nucleotide variant (5 prime UTR variant +1 more)	Multiple mitochondrial dysfunctions syndrome 1 +1 more	GLikely benign
Select item 380985	NM_001002755.4(NFU1):c.420A>T (p.Thr140=)	NFU1	Single nucleotide variant (synonymous variant +2 more)	not provided +1 more	GBenign/Likely benign
Select item 336903	NM_001002755.2(NFU1):c.-200G>A	NFU1	Single nucleotide variant (5 prime UTR variant +1 more)	Multiple mitochondrial dysfunctions syndrome 1	GUncertain significance
Select item 336902	NM_001002755.2(NFU1):c.-197T>G	NFU1	Single nucleotide variant (5 prime UTR variant +1 more)	Multiple mitochondrial dysfunctions syndrome 1	GUncertain significance
Select item 336901	NM_001002755.2(NFU1):c.-175G>T	NFU1	Single nucleotide variant (5 prime UTR variant +1 more)	Multiple mitochondrial dysfunctions syndrome 1	GUncertain significance
Select item 336900	NM_001002755.2(NFU1):c.-166T>C	NFU1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GBenign
Select item 336898	NM_001002755.2(NFU1):c.-119G>A	NFU1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 336897	NM_001002755.2(NFU1):c.-66C>T	NFU1	Single nucleotide variant (5 prime UTR variant +1 more)	Multiple mitochondrial dysfunctions syndrome 1	GUncertain significance
Select item 336896	NM_001002755.2(NFU1):c.-48G>A	NFU1	Single nucleotide variant (5 prime UTR variant +1 more)	Multiple mitochondrial dysfunctions syndrome 1	GUncertain significance
Select item 336895	NM_001002755.4(NFU1):c.-1G>A	LOC129934004, NFU1	Single nucleotide variant (5 prime UTR variant +2 more)	Multiple mitochondrial dysfunctions syndrome 1	GUncertain significance
Select item 336894	NM_001002755.4(NFU1):c.62+10G>A	LOC129934004, NFU1	Single nucleotide variant (5 prime UTR variant +1 more)	Multiple mitochondrial dysfunctions syndrome 1	GConflicting classifications of pathogenicity
Select item 336893	NM_001002755.4(NFU1):c.166+8T>A	NFU1	Single nucleotide variant (intron variant)	Multiple mitochondrial dysfunctions syndrome 1	GConflicting classifications of pathogenicity
Select item 336892	NM_001002755.4(NFU1):c.167-13T>G	NFU1	Single nucleotide variant (intron variant)	Multiple mitochondrial dysfunctions syndrome 1 +1 more	GConflicting classifications of pathogenicity
Select item 336891	NM_001002755.4(NFU1):c.299C>G (p.Ala100Gly)	NFU1 (A100G +1 more)	Single nucleotide variant (missense variant +1 more)	Multiple mitochondrial dysfunctions syndrome 1	GUncertain significance
Select item 336890	NM_001002755.4(NFU1):c.303-13dup	NFU1	Duplication (intron variant)	Multiple mitochondrial dysfunctions syndrome 1 +1 more	GConflicting classifications of pathogenicity
Select item 336889	NM_001002755.4(NFU1):c.495A>T (p.Glu165Asp)	NFU1 (E165D +2 more)	Single nucleotide variant (missense variant +1 more)	Multiple mitochondrial dysfunctions syndrome 1	GUncertain significance
Select item 336888	NM_001002755.4(NFU1):c.629G>T (p.Cys210Phe)	NFU1 (C210F +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 336887	NM_001002755.4(NFU1):c.702G>A (p.Glu234=)	NFU1	Single nucleotide variant (synonymous variant +1 more)	Multiple mitochondrial dysfunctions syndrome 1	GConflicting classifications of pathogenicity
Select item 336886	NM_001002755.4(NFU1):c.*103G>A	NFU1	Single nucleotide variant (3 prime UTR variant +1 more)	Multiple mitochondrial dysfunctions syndrome 1	GUncertain significance

<< First< Prev

Page of 2