57107[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150937	GRCh38/hg38 6q13-24.1(chr6:74382807-142040500)x3	LOC129996876, LOC129996877 +1449 more	Copy number gain	See cases	GPathogenic
Select item 150641	GRCh38/hg38 6q16.1-22.31(chr6:96609994-122161548)x1	AFG1L, AK9 +558 more	Copy number loss	See cases	GPathogenic
Select item 155160	GRCh38/hg38 6q16.3-22.31(chr6:100054889-120488154)x1	LOC126859762, LOC126859763 +460 more	Copy number loss	See cases	GPathogenic
Select item 145430	GRCh38/hg38 6q16.3-21(chr6:102356502-111049879)x1	AFG1L, AK9 +208 more	Copy number loss	See cases	GPathogenic
Select item 154178	GRCh38/hg38 6q16.3-21(chr6:103279465-113934239)x1	AFG1L, AK9 +297 more	Copy number loss	See cases	GPathogenic
Select item 153088	GRCh38/hg38 6q21-22.31(chr6:106503719-125781219)x1	AFG1L, AK9 +472 more	Copy number loss	See cases	GPathogenic
Select item 146034	GRCh38/hg38 6q21(chr6:107010730-108039165)x3	BEND3, LOC123775394 +24 more	Copy number gain	See cases	GUncertain significance
Select item 354742	NM_020381.4(PDSS2):c.*2032dup	PDSS2	Duplication (3 prime UTR variant)	Coenzyme Q10 deficiency	GUncertain significance
Select item 354744	NM_020381.4(PDSS2):c.1886_1887insAA	PDSS2	Insertion (3 prime UTR variant)	Coenzyme Q10 deficiency	GUncertain significance
Select item 354758	NM_020381.4(PDSS2):c.*769G>A	PDSS2	Single nucleotide variant (3 prime UTR variant)	Coenzyme Q10 deficiency	GUncertain significance
Select item 354761	NM_020381.4(PDSS2):c.*544dup	PDSS2	Duplication (3 prime UTR variant)	Coenzyme Q10 deficiency	GLikely benign
Select item 1293935	NM_020381.4(PDSS2):c.*311G>A	PDSS2	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 354766	NM_020381.4(PDSS2):c.*1C>T	PDSS2	Single nucleotide variant (3 prime UTR variant)	not specified	GLikely benign
Select item 1254268	NM_020381.4(PDSS2):c.1194T>G (p.Phe398Leu)	PDSS2 (F398L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 522780	NM_020381.4(PDSS2):c.1190_1191del (p.Arg397fs)	PDSS2 (R397fs)	Deletion (frameshift variant)	Coenzyme Q10 deficiency, primary, 3	GUncertain significance
Select item 2415087	NM_020381.4(PDSS2):c.1154G>C (p.Arg385Thr)	PDSS2 (R385T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1030705	NM_020381.4(PDSS2):c.1151C>A (p.Ala384Asp)	PDSS2 (A384D)	Single nucleotide variant (missense variant)	Coenzyme Q10 deficiency, primary, 3	GUncertain significance
Select item 261251	NM_020381.4(PDSS2):c.1149G>A (p.Glu383=)	PDSS2	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 718615	NM_020381.4(PDSS2):c.1146G>A (p.Ser382=)	PDSS2	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1201	NM_020381.4(PDSS2):c.1145C>T (p.Ser382Leu)	PDSS2 (S382L)	Single nucleotide variant (missense variant)	Coenzyme Q10 deficiency, primary, 3 +2 more	GConflicting classifications of pathogenicity
Select item 1593471	NM_020381.4(PDSS2):c.1140T>A (p.Pro380=)	PDSS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 515351	NM_020381.4(PDSS2):c.1134C>T (p.Ser378=)	PDSS2	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 1371936	NM_020381.4(PDSS2):c.1127T>C (p.Leu376Pro)	PDSS2 (L376P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1957585	NM_020381.4(PDSS2):c.1125C>G (p.Ala375=)	PDSS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1944664	NM_020381.4(PDSS2):c.1123G>A (p.Ala375Thr)	PDSS2 (A375T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1937172	NM_020381.4(PDSS2):c.1116A>C (p.Ala372=)	PDSS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2019218	NM_020381.4(PDSS2):c.1109A>G (p.Asn370Ser)	PDSS2 (N370S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1902428	NM_020381.4(PDSS2):c.1097G>A (p.Arg366His)	PDSS2 (R366H)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1498538	NM_020381.4(PDSS2):c.1096C>T (p.Arg366Cys)	PDSS2 (R366C)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 2829597	NM_020381.4(PDSS2):c.1074G>A (p.Val358=)	PDSS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2434640	NM_020381.4(PDSS2):c.1070G>T (p.Gly357Val)	PDSS2 (G357V)	Single nucleotide variant (missense variant)	Coenzyme Q10 deficiency, primary, 3	GUncertain significance
Select item 214989	NM_020381.4(PDSS2):c.1046G>A (p.Arg349Gln)	PDSS2 (R349Q)	Single nucleotide variant (missense variant)	Coenzyme Q10 deficiency, primary, 3 +2 more	GConflicting classifications of pathogenicity
Select item 2762804	NM_020381.4(PDSS2):c.1045C>A (p.Arg349=)	PDSS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2174415	NM_020381.4(PDSS2):c.1045C>T (p.Arg349Ter)	PDSS2 (R349*)	Single nucleotide variant (nonsense)	not specified +2 more	GUncertain significance
Select item 1946521	NM_020381.4(PDSS2):c.1045C>G (p.Arg349Gly)	PDSS2 (R349G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2059878	NM_020381.4(PDSS2):c.1044G>T (p.Leu348Phe)	PDSS2 (L348F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1954682	NM_020381.4(PDSS2):c.1042-1G>A	PDSS2	Single nucleotide variant (splice acceptor variant)	Coenzyme Q10 deficiency, primary, 3 +1 more	GConflicting classifications of pathogenicity
Select item 383027	NM_020381.4(PDSS2):c.1042-19T>C	PDSS2	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 671542	NM_020381.4(PDSS2):c.1042-237A>G	PDSS2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 560095	NC_000006.12:g.107174371_107825273del	LOC123775394, LOC129389601 +9 more	Deletion	not provided	GUncertain significance
Select item 1201882	NM_020381.4(PDSS2):c.1041+175_1041+178del	PDSS2	Microsatellite (intron variant)	not provided	GLikely benign
Select item 2965113	NM_020381.4(PDSS2):c.1041+18A>G	PDSS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2182215	NM_020381.4(PDSS2):c.1009-3T>C	PDSS2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2897314	NM_020381.4(PDSS2):c.1009-9_1009-5del	PDSS2	Deletion (intron variant)	not provided	GLikely benign
Select item 2059985	NM_020381.4(PDSS2):c.1009-9_1009-7del	PDSS2	Microsatellite (intron variant)	not provided	GLikely benign
Select item 378357	NM_020381.4(PDSS2):c.1009-14C>G	PDSS2	Single nucleotide variant (intron variant)	Coenzyme Q10 deficiency, primary, 3 +2 more	GBenign/Likely benign
Select item 512931	NM_020381.4(PDSS2):c.1009-15C>T	PDSS2	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 2967589	NM_020381.4(PDSS2):c.1009-18del	PDSS2	Deletion (intron variant)	not provided	GBenign
Select item 1189745	NM_020381.4(PDSS2):c.1009-28_1009-25del	PDSS2	Deletion (intron variant)	not provided	GLikely benign
Select item 1661681	NM_020381.4(PDSS2):c.1008+17C>T	PDSS2	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 1432907	NM_020381.4(PDSS2):c.1003G>A (p.Gly335Arg)	PDSS2 (G335R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 740822	NM_020381.4(PDSS2):c.1002C>T (p.Ile334=)	PDSS2	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 3350000	NM_020381.4(PDSS2):c.988T>C (p.Trp330Arg)	PDSS2 (W330R)	Single nucleotide variant (missense variant)	PDSS2-related disorder	GUncertain significance
Select item 2992818	NM_020381.4(PDSS2):c.984T>C (p.Asp328=)	PDSS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1200	NM_020381.4(PDSS2):c.964C>T (p.Gln322Ter)	PDSS2 (Q322*)	Single nucleotide variant (nonsense)	Coenzyme Q10 deficiency, primary, 3	GPathogenic
Select item 2035857	NM_020381.4(PDSS2):c.948T>C (p.Ala316=)	PDSS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1981060	NM_020381.4(PDSS2):c.941A>C (p.Asn314Thr)	PDSS2 (N314T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2071956	NM_020381.4(PDSS2):c.919G>A (p.Asp307Asn)	PDSS2 (D307N)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 382475	NM_020381.4(PDSS2):c.915C>T (p.Thr305=)	PDSS2	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 1496856	NM_020381.4(PDSS2):c.908A>G (p.Glu303Gly)	PDSS2 (E303G)	Single nucleotide variant (missense variant)	Kidney disorder +2 more	GUncertain significance
Select item 2109865	NM_020381.4(PDSS2):c.896C>G (p.Pro299Arg)	PDSS2 (P299R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2093965	NM_020381.4(PDSS2):c.889G>A (p.Val297Ile)	PDSS2 (V297I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 214994	NM_020381.4(PDSS2):c.877-2A>G	PDSS2	Single nucleotide variant (splice acceptor variant)	not provided	GPathogenic
Select item 1434381	NM_020381.4(PDSS2):c.877-3T>C	PDSS2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2978057	NM_020381.4(PDSS2):c.877-20C>G	PDSS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 516466	NM_020381.4(PDSS2):c.877-20C>T	PDSS2	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 1282627	NM_020381.4(PDSS2):c.877-40A>G	PDSS2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1212048	NM_020381.4(PDSS2):c.877-86G>A	PDSS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1288475	NM_020381.4(PDSS2):c.877-294_877-293dup	PDSS2	Duplication (intron variant)	not provided	GBenign
Select item 1186595	NM_020381.4(PDSS2):c.877-294_877-292dup	PDSS2	Duplication (intron variant)	not provided	GLikely benign
Select item 671540	NM_020381.4(PDSS2):c.877-294dup	PDSS2	Duplication (intron variant)	not provided	GBenign
Select item 683453	NM_020381.4(PDSS2):c.876+153A>C	PDSS2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 671641	NM_020381.4(PDSS2):c.876+48C>T	PDSS2	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 261254	NM_020381.4(PDSS2):c.876+6T>C	PDSS2	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 2092666	NM_020381.4(PDSS2):c.876+4C>G	PDSS2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 214995	NM_020381.4(PDSS2):c.874A>G (p.Lys292Glu)	PDSS2 (K292E)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 1948829	NM_020381.4(PDSS2):c.872A>G (p.His291Arg)	PDSS2 (H291R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1910873	NM_020381.4(PDSS2):c.865A>G (p.Met289Val)	PDSS2 (M289V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1970740	NM_020381.4(PDSS2):c.858C>T (p.His286=)	PDSS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1968048	NM_020381.4(PDSS2):c.855G>A (p.Lys285=)	PDSS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2656814	NM_020381.4(PDSS2):c.849T>C (p.Tyr283=)	PDSS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1969187	NM_020381.4(PDSS2):c.846G>A (p.Gln282=)	PDSS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1032839	NM_020381.4(PDSS2):c.837G>A (p.Met279Ile)	PDSS2 (M279I)	Single nucleotide variant (missense variant)	Coenzyme Q10 deficiency, primary, 3	GUncertain significance
Select item 2417911	NM_020381.4(PDSS2):c.835A>G (p.Met279Val)	PDSS2 (M279V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3012746	NM_020381.4(PDSS2):c.831G>A (p.Gln277=)	PDSS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2175894	NM_020381.4(PDSS2):c.813G>A (p.Lys271=)	PDSS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1928541	NM_020381.4(PDSS2):c.799A>G (p.Met267Val)	PDSS2 (M267V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1966159	NM_020381.4(PDSS2):c.764A>G (p.His255Arg)	PDSS2 (H255R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2040436	NM_020381.4(PDSS2):c.740G>A (p.Trp247Ter)	PDSS2 (W247*)	Single nucleotide variant (nonsense)	Coenzyme Q10 deficiency, primary, 3 +1 more	GUncertain significance
Select item 1490204	NM_020381.4(PDSS2):c.737C>T (p.Thr246Ile)	PDSS2 (T246I)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2970140	NM_020381.4(PDSS2):c.735G>A (p.Ser245=)	PDSS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2113717	NM_020381.4(PDSS2):c.703-13G>A	PDSS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 378356	NM_020381.4(PDSS2):c.703-14T>C	PDSS2	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 2964026	NM_020381.4(PDSS2):c.703-19G>A	PDSS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 673752	NM_020381.4(PDSS2):c.703-305G>A	PDSS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1646701	NM_020381.4(PDSS2):c.702+16G>A	PDSS2	Single nucleotide variant (intron variant)	Coenzyme Q10 deficiency, primary, 3 +1 more	GLikely benign
Select item 2170159	NM_020381.4(PDSS2):c.702+9T>C	PDSS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 214988	NM_020381.4(PDSS2):c.700A>G (p.Lys234Glu)	PDSS2 (K234E)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 508410	NM_020381.4(PDSS2):c.678A>G (p.Val226=)	PDSS2	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 214987	NM_020381.4(PDSS2):c.667G>A (p.Val223Ile)	PDSS2 (V223I)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity

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