ClinVar for Gene (Select 55471) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3218841	NM_005813.6(PRKD3):c.2644A>C (p.Asn882His)	NDUFAF7, PRKD3 (N882H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3218840	NM_005813.6(PRKD3):c.2173C>T (p.Arg725Cys)	NDUFAF7, PRKD3 (R725C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3218839	NM_005813.6(PRKD3):c.1895A>T (p.His632Leu)	NDUFAF7, PRKD3 (H632L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3187719	NM_144736.5(NDUFAF7):c.1201A>G (p.Arg401Gly)	NDUFAF7 (R303G +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3187702	NM_144736.5(NDUFAF7):c.946G>A (p.Asp316Asn)	NDUFAF7 (D316N +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3187698	NM_144736.5(NDUFAF7):c.866T>C (p.Ile289Thr)	NDUFAF7 (I218T +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3062647	GRCh37/hg19 2p23.1-21(chr2:30814984-42798684)x1	ARHGEF33, ATL2 +52 more	Copy number loss	not specified	GPathogenic
Select item 3062619	GRCh37/hg19 2p22.2(chr2:36971076-38294436)x3	CDC42EP3, CEBPZ +10 more	Copy number gain	not specified	GUncertain significance
Select item 2993337	NM_144736.5(NDUFAF7):c.793-18C>G	NDUFAF7	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2990706	NM_144736.5(NDUFAF7):c.345C>T (p.Ser115=)	NDUFAF7	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2990272	NM_144736.5(NDUFAF7):c.1048T>C (p.Ser350Pro)	NDUFAF7 (S279P +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2985187	NM_144736.5(NDUFAF7):c.56C>T (p.Ala19Val)	LOC126806192, NDUFAF7 (A19V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2969438	NM_144736.5(NDUFAF7):c.1218C>T (p.Ala406=)	NDUFAF7	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2900804	NM_144736.5(NDUFAF7):c.793-5A>G	NDUFAF7	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2886365	NM_144736.5(NDUFAF7):c.77G>T (p.Gly26Val)	LOC126806192, NDUFAF7 (G26V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2882119	NM_144736.5(NDUFAF7):c.1077T>C (p.Phe359=)	NDUFAF7	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2866266	NM_144736.5(NDUFAF7):c.701G>A (p.Arg234Gln)	NDUFAF7 (R163Q +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2800013	NM_144736.5(NDUFAF7):c.1222C>A (p.Leu408Ile)	NDUFAF7 (L310I +2 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2797514	NM_144736.5(NDUFAF7):c.956T>A (p.Leu319His)	NDUFAF7 (L319H +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2719333	NM_144736.5(NDUFAF7):c.862C>T (p.Arg288Cys)	NDUFAF7 (R288C +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2697821	NM_144736.5(NDUFAF7):c.368T>C (p.Leu123Pro)	NDUFAF7 (L96P +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2650836	NM_144736.5(NDUFAF7):c.222T>C (p.Tyr74=)	NDUFAF7	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2543499	NM_144736.5(NDUFAF7):c.139C>T (p.Leu47Phe)	NDUFAF7 (L47F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2524441	NM_005813.6(PRKD3):c.2021G>A (p.Arg674Gln)	NDUFAF7, PRKD3 (R674Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2507898	NM_005813.6(PRKD3):c.2646T>A (p.Asn882Lys)	NDUFAF7, PRKD3 (N882K)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2478171	NM_144736.5(NDUFAF7):c.1149G>T (p.Gln383His)	NDUFAF7 (Q285H +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2467128	NM_144736.5(NDUFAF7):c.134G>A (p.Arg45Gln)	NDUFAF7 (R45Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2425393	NC_000002.11:g.(?_37334416)_(39347563_?)dup	ARHGEF33, ATL2 +17 more	Duplication	RASopathy	GPathogenic
Select item 2326384	NM_144736.5(NDUFAF7):c.142A>G (p.Met48Val)	NDUFAF7 (M48V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2319040	NM_005813.6(PRKD3):c.2500G>C (p.Asp834His)	NDUFAF7, PRKD3 (D834H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2296060	NM_005813.6(PRKD3):c.2540G>A (p.Arg847His)	NDUFAF7, PRKD3 (R847H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2288926	NM_005813.6(PRKD3):c.2542A>G (p.Ile848Val)	NDUFAF7, PRKD3 (I848V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2280739	NM_144736.5(NDUFAF7):c.875C>G (p.Thr292Ser)	NDUFAF7 (T221S +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2267416	NM_144736.5(NDUFAF7):c.812A>T (p.His271Leu)	NDUFAF7 (H173L +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2235747	NM_144736.5(NDUFAF7):c.1087A>G (p.Met363Val)	NDUFAF7 (M292V +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2203813	NM_005813.6(PRKD3):c.2245C>T (p.Arg749Trp)	NDUFAF7, PRKD3 (R749W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2196161	NM_144736.5(NDUFAF7):c.945C>T (p.Cys315=)	NDUFAF7	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2180001	NM_144736.5(NDUFAF7):c.1322A>G (p.Gln441Arg)	NDUFAF7 (Q343R +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2180000	NM_144736.5(NDUFAF7):c.1070A>G (p.His357Arg)	NDUFAF7 (H259R +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2150662	NM_144736.5(NDUFAF7):c.1080A>T (p.Leu360Phe)	NDUFAF7 (L289F +3 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2078938	NM_144736.5(NDUFAF7):c.1273T>C (p.Ser425Pro)	NDUFAF7 (S327P +4 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2072397	NM_144736.5(NDUFAF7):c.798C>T (p.Asp266=)	NDUFAF7	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2070184	NM_144736.5(NDUFAF7):c.187A>G (p.Met63Val)	NDUFAF7 (M63V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2047539	NM_144736.5(NDUFAF7):c.1149G>A (p.Gln383=)	NDUFAF7	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2026955	NM_144736.5(NDUFAF7):c.418C>G (p.Gln140Glu)	NDUFAF7 (Q113E +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2026954	NM_144736.5(NDUFAF7):c.215A>C (p.Lys72Thr)	NDUFAF7 (K72T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2020716	NM_144736.5(NDUFAF7):c.1247G>T (p.Gly416Val)	NDUFAF7 (G318V +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1991440	NM_144736.5(NDUFAF7):c.937-13_937-10del	NDUFAF7	Deletion (intron variant)	not provided	GUncertain significance
Select item 1964186	NM_144736.5(NDUFAF7):c.1019T>C (p.Leu340Ser)	NDUFAF7 (L269S +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1959436	NM_144736.5(NDUFAF7):c.793-17_793-4del	NDUFAF7	Deletion (intron variant)	not provided	GLikely benign
Select item 1955992	NM_144736.5(NDUFAF7):c.1111-12T>C	NDUFAF7	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1940947	NM_144736.5(NDUFAF7):c.298-13T>C	NDUFAF7	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1927096	NM_144736.5(NDUFAF7):c.468G>A (p.Glu156=)	NDUFAF7	Single nucleotide variant (synonymous variant +1 more)	not provided	GUncertain significance
Select item 1920003	NM_144736.5(NDUFAF7):c.327G>A (p.Trp109Ter)	NDUFAF7 (W109* +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 1915835	NM_144736.5(NDUFAF7):c.67A>G (p.Ile23Val)	LOC126806192, NDUFAF7 (I23V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1908581	NM_144736.5(NDUFAF7):c.409-17C>A	NDUFAF7	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1897457	NM_144736.5(NDUFAF7):c.409-13T>A	NDUFAF7	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1810299	NM_144736.5(NDUFAF7):c.1217C>T (p.Ala406Val)	NDUFAF7 (A308V +2 more)	Single nucleotide variant (non-coding transcript variant +2 more)	Mitochondrial complex I deficiency	Gnot provided
Select item 1708190	GRCh37/hg19 2p25.1-q13(chr2:11504318-111365996)x1	ACTG2, ACTR1B +529 more	Copy number loss	See cases	GPathogenic
Select item 1703543	GRCh37/hg19 2p25.3-q37.3(chr2:1-243199373)	ABCA12, ABCB11 +1216 more	Copy number gain	Mosaic trisomy 2	GPathogenic
Select item 1671284	NM_144736.5(NDUFAF7):c.298-10dup	NDUFAF7	Duplication (intron variant)	not provided	GLikely benign
Select item 1587336	NM_144736.5(NDUFAF7):c.9A>G (p.Val3=)	LOC126806192, NDUFAF7	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 1527803	GRCh37/hg19 2p23.2-21(chr2:29899368-42441440)	ALK, ARHGEF33 +52 more	Copy number loss	not specified	GPathogenic
Select item 1524866	NM_144736.5(NDUFAF7):c.195G>C (p.Glu65Asp)	NDUFAF7 (E65D)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1365504	NM_144736.5(NDUFAF7):c.936+3A>G	NDUFAF7	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1320582	NM_144736.5(NDUFAF7):c.408+45T>G	NDUFAF7	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1318298	NM_144736.5(NDUFAF7):c.682-183T>C	NDUFAF7	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1318296	NM_144736.5(NDUFAF7):c.409-273T>C	NDUFAF7	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1317945	NM_144736.5(NDUFAF7):c.298-205A>G	NDUFAF7	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1317799	NM_144736.5(NDUFAF7):c.298-22T>G	NDUFAF7	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1317709	NM_144736.5(NDUFAF7):c.793-44T>G	NDUFAF7	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1317621	NM_144736.5(NDUFAF7):c.297+133G>A	NDUFAF7	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1317584	NM_144736.5(NDUFAF7):c.216+277A>G	NDUFAF7	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1317552	NM_144736.5(NDUFAF7):c.298-147A>G	NDUFAF7	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1316709	NM_144736.5(NDUFAF7):c.937-258C>T	NDUFAF7	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1316562	NM_144736.5(NDUFAF7):c.217-163C>T	NDUFAF7	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1316411	NM_005760.3(CEBPZ):c.57G>C (p.Glu19Asp)	CEBPZ, LOC126806192 +1 more (E19D)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1291456	NM_005760.3(CEBPZ):c.43C>T (p.Pro15Ser)	CEBPZ, LOC126806192 +1 more (P15S)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1290667	NM_144736.5(NDUFAF7):c.298-13dup	NDUFAF7	Duplication (intron variant)	not provided	GBenign
Select item 1290174	NM_144736.5(NDUFAF7):c.682-340T>A	NDUFAF7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1286652	NM_144736.5(NDUFAF7):c.937-213G>A	NDUFAF7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1268049	NM_144736.5(NDUFAF7):c.56-66C>T	LOC126806192, NDUFAF7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1262599	NM_005760.3(CEBPZ):c.-1C>T	CEBPZ, LOC126806192 +1 more	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 1241731	NM_144736.5(NDUFAF7):c.-37_-36delinsC	LOC126806192, NDUFAF7	Indel (5 prime UTR variant +1 more)	not provided	GBenign
Select item 1229127	NM_144736.5(NDUFAF7):c.408+153_408+156del	NDUFAF7	Microsatellite (intron variant)	not provided	GBenign
Select item 1221280	NM_144736.5(NDUFAF7):c.408+334G>T	NDUFAF7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1220534	GRCh37/hg19 2p23.3-21(chr2:24601818-43466284)x3	OTOF, OXER1 +131 more	Copy number gain	See cases	GPathogenic
Select item 1177759	NM_144736.5(NDUFAF7):c.682-250C>T	NDUFAF7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1176757	GRCh37/hg19 2p23.3-21(chr2:24881528-43460021)x3	HADHA, HADHB +131 more	Copy number gain	not provided	GLikely pathogenic
Select item 1050110	NM_144736.5(NDUFAF7):c.1268G>A (p.Arg423His)	NDUFAF7 (R325H +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1049881	NM_144736.5(NDUFAF7):c.1069C>T (p.His357Tyr)	NDUFAF7 (H259Y +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 979973	GRCh37/hg19 2p22.3-22.2(chr2:36432453-38182274)x3	CRIM1, SULT6B1 +12 more	Copy number gain	not provided	GUncertain significance
Select item 808730	NM_144736.5(NDUFAF7):c.799G>A (p.Glu267Lys)	NDUFAF7 (E267K +3 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 684302	NM_144736.5(NDUFAF7):c.1111-164C>G	NDUFAF7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 682736	NM_144736.5(NDUFAF7):c.936+317A>C	NDUFAF7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 682735	NM_144736.5(NDUFAF7):c.936+247T>C	NDUFAF7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 682732	NM_144736.5(NDUFAF7):c.409-157G>T	NDUFAF7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 682731	NM_144736.5(NDUFAF7):c.408+299A>G	NDUFAF7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 682730	NM_144736.5(NDUFAF7):c.216+261G>T	NDUFAF7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 681600	NM_144736.5(NDUFAF7):c.-11C>T	LOC126806192, NDUFAF7	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign

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