LOC126861242[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154814	GRCh38/hg38 11q13.1-13.2(chr11:65741431-67705669)x1	GAL3ST3, GPR152 +282 more	Copy number loss	See cases	GPathogenic
Select item 59757	GRCh38/hg38 11q13.2(chr11:66193502-67890770)x3	ACTN3, ACY3 +212 more	Copy number gain	See cases	GPathogenic
Select item 58892	GRCh38/hg38 11q13.2(chr11:66885910-67698250)x1	ACY3, AIP +129 more	Copy number loss	See cases	GPathogenic
Select item 146304	GRCh38/hg38 11q13.2-13.3(chr11:67217264-69448598)x1	ACY3, AIP +206 more	Copy number loss	See cases	GLikely pathogenic
Select item 147720	GRCh38/hg38 11q13.2(chr11:67397196-67644438)x1	LOC130006216, LOC130006217 +54 more	Copy number loss	See cases	GBenign
Select item 58893	GRCh38/hg38 11q13.2(chr11:67446153-68679073)x1	ACY3, AIP +98 more	Copy number loss	See cases	GPathogenic
Select item 144730	GRCh38/hg38 11q13.2(chr11:67590733-67806931)x3	ACY3, ALDH3B2 +22 more	Copy number gain	See cases	GUncertain significance
Select item 57210	GRCh38/hg38 11q13.2(chr11:67590733-67698250)x3	ACY3, ALDH3B2 +21 more	Copy number gain	See cases	GUncertain significance
Select item 157206	NC_000011.10:g.67606198_67820541dup	LOC130006221, LOC130006222 +21 more	Duplication	Normal pregnancy	Gnot provided
Select item 3009846	NM_007103.4(NDUFV1):c.1081-20A>G	LOC126861242, NDUFV1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2804163	NM_007103.4(NDUFV1):c.1081-20A>T	LOC126861242, NDUFV1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2805480	NM_007103.4(NDUFV1):c.1081-17T>C	NDUFV1, LOC126861242	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2717238	NM_007103.4(NDUFV1):c.1081-14C>T	LOC126861242, NDUFV1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2854275	NM_007103.4(NDUFV1):c.1081-10C>T	LOC126861242, NDUFV1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2851947	NM_007103.4(NDUFV1):c.1081-10C>G	LOC126861242, NDUFV1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2972962	NM_007103.4(NDUFV1):c.1081-9G>A	LOC126861242, NDUFV1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1950415	NM_007103.4(NDUFV1):c.1081-3C>T	LOC126861242, NDUFV1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1987040	NM_007103.4(NDUFV1):c.1082C>T (p.Thr361Met)	LOC126861242, NDUFV1 (T361M +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2571835	NM_007103.4(NDUFV1):c.1083G>A (p.Thr361=)	LOC126861242, NDUFV1	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 1460879	NM_007103.4(NDUFV1):c.1087A>G (p.Ile363Val)	LOC126861242, NDUFV1 (I354V +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2200618	NM_007103.4(NDUFV1):c.1089C>T (p.Ile363=)	LOC126861242, NDUFV1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2112188	NM_007103.4(NDUFV1):c.1090G>T (p.Val364Leu)	LOC126861242, NDUFV1 (V355L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2798967	NM_007103.4(NDUFV1):c.1098C>T (p.Ala366=)	LOC126861242, NDUFV1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2897082	NM_007103.4(NDUFV1):c.1101C>T (p.Ile367=)	LOC126861242, NDUFV1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 214860	NM_007103.4(NDUFV1):c.1102G>A (p.Ala368Thr)	LOC126861242, NDUFV1 (A368T +1 more)	Single nucleotide variant (missense variant)	Leigh syndrome +2 more	GUncertain significance
Select item 2247546	NM_007103.4(NDUFV1):c.1105C>T (p.Arg369Cys)	LOC126861242, NDUFV1 (R360C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2217682	NM_007103.4(NDUFV1):c.1106G>A (p.Arg369His)	LOC126861242, NDUFV1 (R369H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1496772	NM_007103.4(NDUFV1):c.1106G>T (p.Arg369Leu)	LOC126861242, NDUFV1 (R360L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1934283	NM_007103.4(NDUFV1):c.1108C>G (p.Leu370Val)	LOC126861242, NDUFV1 (L361V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 431452	NM_007103.4(NDUFV1):c.1118T>C (p.Phe373Ser)	LOC126861242, NDUFV1 (F373S +1 more)	Single nucleotide variant (missense variant)	Mitochondrial complex 1 deficiency, nuclear type 4	GLikely pathogenic
Select item 1970862	NM_007103.4(NDUFV1):c.1120T>C (p.Tyr374His)	NDUFV1, LOC126861242 (Y365H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2839391	NM_007103.4(NDUFV1):c.1125G>A (p.Lys375=)	LOC126861242, NDUFV1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2780862	NM_007103.4(NDUFV1):c.1128C>T (p.His376=)	LOC126861242, NDUFV1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2137168	NM_007103.4(NDUFV1):c.1129G>A (p.Glu377Lys)	LOC126861242, NDUFV1 (E377K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 802693	NM_007103.4(NDUFV1):c.1129G>T (p.Glu377Ter)	LOC126861242, NDUFV1 (E368* +1 more)	Single nucleotide variant (nonsense)	Leigh syndrome	GLikely pathogenic
Select item 214861	NM_007103.4(NDUFV1):c.1132A>C (p.Ser378Arg)	NDUFV1, LOC126861242 (S378R +1 more)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 2852049	NM_007103.4(NDUFV1):c.1141C>T (p.Gln381Ter)	LOC126861242, NDUFV1 (Q372* +1 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2098948	NM_007103.4(NDUFV1):c.1145G>A (p.Cys382Tyr)	LOC126861242, NDUFV1 (C382Y +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 2998122	NM_007103.4(NDUFV1):c.1149C>A (p.Thr383=)	NDUFV1, LOC126861242	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 419230	NM_007103.4(NDUFV1):c.1156C>T (p.Arg386Cys)	NDUFV1, LOC126861242 (R386C +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 1465562	NM_007103.4(NDUFV1):c.1157G>T (p.Arg386Leu)	LOC126861242, NDUFV1 (R377L +1 more)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 496918	NM_007103.4(NDUFV1):c.1157G>A (p.Arg386His)	NDUFV1, LOC126861242 (R386H +1 more)	Single nucleotide variant (missense variant)	Leigh syndrome +4 more	GPathogenic/Likely pathogenic
Select item 2022457	NM_007103.4(NDUFV1):c.1162G>A (p.Gly388Ser)	LOC126861242, NDUFV1 (G379S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 372716	NM_007103.4(NDUFV1):c.1162+4A>C	LOC126861242, NDUFV1	Single nucleotide variant (intron variant)	Leigh syndrome +2 more	GPathogenic/Likely pathogenic
Select item 1625420	NM_007103.4(NDUFV1):c.1162+9C>T	LOC126861242, NDUFV1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2846570	NM_007103.4(NDUFV1):c.1162+13C>G	LOC126861242, NDUFV1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2815129	NM_007103.4(NDUFV1):c.1162+16G>A	LOC126861242, NDUFV1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2861106	NM_007103.4(NDUFV1):c.1162+23del	LOC126861242, NDUFV1	Deletion (intron variant)	not provided	GBenign
Select item 681938	NM_007103.4(NDUFV1):c.1162+19G>A	LOC126861242, NDUFV1	Single nucleotide variant (intron variant)	not provided	GBenign/Likely benign
Select item 2771895	NM_007103.4(NDUFV1):c.1162+20G>A	LOC126861242, NDUFV1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3003405	NM_007103.4(NDUFV1):c.1163-18T>C	LOC126861242, NDUFV1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1660963	NM_007103.4(NDUFV1):c.1163-17del	LOC126861242, NDUFV1	Deletion (intron variant)	not provided	GLikely benign
Select item 138503	NM_007103.4(NDUFV1):c.1163-16G>A	LOC126861242, NDUFV1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 214844	NM_007103.4(NDUFV1):c.1163-12del	LOC126861242, NDUFV1	Deletion (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 1615033	NM_007103.4(NDUFV1):c.1163-10G>A	LOC126861242, NDUFV1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1705562	NM_007103.4(NDUFV1):c.1163G>A (p.Gly388Asp)	LOC126861242, NDUFV1 (G379D +1 more)	Single nucleotide variant (missense variant)	Mitochondrial complex 1 deficiency, nuclear type 4	GLikely pathogenic
Select item 305755	NM_007103.4(NDUFV1):c.1188G>A (p.Met396Ile)	LOC126861242, NDUFV1 (M396I +1 more)	Single nucleotide variant (missense variant)	Mitochondrial complex I deficiency +3 more	GUncertain significance
Select item 2904885	NM_007103.4(NDUFV1):c.1197C>T (p.Phe399=)	LOC126861242, NDUFV1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1034349	NM_007103.4(NDUFV1):c.1198G>A (p.Val400Met)	LOC126861242, NDUFV1 (V400M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1592344	NM_007103.4(NDUFV1):c.1200G>A (p.Val400=)	LOC126861242, NDUFV1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 802694	NM_007103.4(NDUFV1):c.1207dup (p.Asp403fs)	LOC126861242, NDUFV1 (D403fs +1 more)	Duplication (frameshift variant)	not provided +1 more	GPathogenic
Select item 2486661	NM_007103.4(NDUFV1):c.1202G>T (p.Arg401Met)	LOC126861242, NDUFV1 (R401M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2418364	NM_007103.4(NDUFV1):c.1203G>T (p.Arg401Ser)	LOC126861242, NDUFV1 (R392S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2702857	NM_007103.4(NDUFV1):c.1206G>A (p.Gly402=)	LOC126861242, NDUFV1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2585065	NM_007103.4(NDUFV1):c.1213_1234del (p.Arg405fs)	LOC126861242, NDUFV1 (R405fs +1 more)	Deletion (frameshift variant)	Mitochondrial complex 1 deficiency, nuclear type 4	GLikely pathogenic
Select item 996909	NM_007103.4(NDUFV1):c.1213C>T (p.Arg405Trp)	LOC126861242, NDUFV1 (R396W +1 more)	Single nucleotide variant (missense variant)	Mitochondrial complex I deficiency, nuclear type 1 +2 more	GUncertain significance
Select item 877426	NM_007103.4(NDUFV1):c.1217C>T (p.Pro406Leu)	LOC126861242, NDUFV1 (P397L +1 more)	Single nucleotide variant (missense variant)	Leigh syndrome +1 more	GUncertain significance
Select item 3005923	NM_007103.4(NDUFV1):c.1218G>A (p.Pro406=)	LOC126861242, NDUFV1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2719296	NM_007103.4(NDUFV1):c.1218G>C (p.Pro406=)	LOC126861242, NDUFV1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3012375	NM_007103.4(NDUFV1):c.1221C>T (p.Ala407=)	LOC126861242, NDUFV1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1361255	NM_007103.4(NDUFV1):c.1222G>A (p.Glu408Lys)	LOC126861242, NDUFV1 (E408K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2571714	NM_007103.4(NDUFV1):c.1223A>C (p.Glu408Ala)	LOC126861242, NDUFV1 (E399A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1583985	NM_007103.4(NDUFV1):c.1227C>T (p.Ile409=)	LOC126861242, NDUFV1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 877427	NM_007103.4(NDUFV1):c.1233C>T (p.Ser411=)	LOC126861242, NDUFV1	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 214862	NM_007103.4(NDUFV1):c.1256_1259del (p.Ile419fs)	LOC126861242, NDUFV1 (I410fs +1 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1403135	NM_007103.4(NDUFV1):c.1262G>T (p.Gly421Val)	LOC126861242, NDUFV1 (G421V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2116309	NM_007103.4(NDUFV1):c.1265A>G (p.His422Arg)	LOC126861242, NDUFV1 (H422R +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 14056	NM_007103.4(NDUFV1):c.1268C>T (p.Thr423Met)	NDUFV1, LOC126861242 (T423M +1 more)	Single nucleotide variant (missense variant)	Mitochondrial complex 1 deficiency, nuclear type 4 +4 more	GPathogenic/Likely pathogenic
Select item 388880	NM_007103.4(NDUFV1):c.1269G>A (p.Thr423=)	LOC126861242, NDUFV1	Single nucleotide variant (synonymous variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 2973572	NM_007103.4(NDUFV1):c.1278T>C (p.Ala426=)	LOC126861242, NDUFV1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2876601	NM_007103.4(NDUFV1):c.1284T>A (p.Gly428=)	LOC126861242, NDUFV1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1575271	NM_007103.4(NDUFV1):c.1287C>T (p.Asp429=)	LOC126861242, NDUFV1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1679323	NM_007103.4(NDUFV1):c.1288G>A (p.Gly430Arg)	LOC126861242, NDUFV1 (G421R +1 more)	Single nucleotide variant (missense variant)	Mitochondrial complex 1 deficiency, nuclear type 4	GUncertain significance
Select item 3299077	NM_007103.4(NDUFV1):c.1291G>A (p.Ala431Thr)	LOC126861242, NDUFV1 (A431T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3299079	NM_007103.4(NDUFV1):c.1292C>T (p.Ala431Val)	LOC126861242, NDUFV1 (A431V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2994973	NM_007103.4(NDUFV1):c.1293C>T (p.Ala431=)	LOC126861242, NDUFV1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2499362	NM_007103.4(NDUFV1):c.1297T>G (p.Trp433Gly)	LOC126861242, NDUFV1 (W424G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 508408	NM_007103.4(NDUFV1):c.1308+10_1308+12del	LOC126861242, NDUFV1	Microsatellite (intron variant)	not specified	GLikely benign
Select item 3012589	NM_007103.4(NDUFV1):c.1308+7A>G	LOC126861242, NDUFV1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 878453	NM_007103.4(NDUFV1):c.1308+7A>T	LOC126861242, NDUFV1	Single nucleotide variant (intron variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 2821985	NM_007103.4(NDUFV1):c.1308+10A>G	LOC126861242, NDUFV1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2825652	NM_007103.4(NDUFV1):c.1308+11C>T	LOC126861242, NDUFV1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2813435	NM_007103.4(NDUFV1):c.1308+13del	LOC126861242, NDUFV1	Deletion (intron variant)	not provided	GLikely benign
Select item 2991980	NM_007103.4(NDUFV1):c.1308+13C>T	LOC126861242, NDUFV1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1910099	NM_007103.4(NDUFV1):c.1308+19C>T	LOC126861242, NDUFV1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2995469	NM_007103.4(NDUFV1):c.1308+20G>A	LOC126861242, NDUFV1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1234307	NM_007103.4(NDUFV1):c.1308+27G>A	LOC126861242, NDUFV1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2990420	NM_007103.4(NDUFV1):c.1309-12dup	LOC126861242, NDUFV1	Duplication (intron variant)	not provided	GBenign
Select item 2986092	NM_007103.4(NDUFV1):c.1309-17C>G	LOC126861242, NDUFV1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2780652	NM_007103.4(NDUFV1):c.1309-17C>T	LOC126861242, NDUFV1	Single nucleotide variant (intron variant)	not provided	GLikely benign

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