2194[HGNC] - ClinVar - NCBI

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

Search results

Items: 1 to 100 of 1447

<< First< Prev

Page of 15

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 57116	GRCh38/hg38 10q23.33-25.3(chr10:95112607-116776637)x3	LOC130004500, LOC130004501 +821 more	Copy number gain	See cases	GPathogenic
Select item 59707	GRCh38/hg38 10q24.31-26.3(chr10:100194215-132432797)x3	EDRF1-AS1, EDRF1-DT +1036 more	Copy number gain	See cases	GPathogenic
Select item 148679	GRCh38/hg38 10q24.31-26.3(chr10:100600492-133622588)x3	GSTO1, GSTO2 +1097 more	Copy number gain	See cases	GPathogenic
Select item 3572	NC_000010.11:g.(102444036_?)_(?_104726221)del	ACTR1A, ARL3 +135 more	Deletion	Desmoplastic/nodular medulloblastoma	GPathogenic
Select item 155304	GRCh38/hg38 10q24.32-25.3(chr10:102732173-114085105)x1	LOC124416905, LOC124416906 +318 more	Copy number loss	See cases	GPathogenic
Select item 298670	NM_000494.4(COL17A1):c.*947A>G	COL17A1	Single nucleotide variant (3 prime UTR variant)	Junctional epidermolysis bullosa	GUncertain significance
Select item 879900	NM_000494.4(COL17A1):c.*823T>G	COL17A1	Single nucleotide variant (3 prime UTR variant)	Junctional epidermolysis bullosa, non-Herlitz type	GUncertain significance
Select item 298671	NM_000494.4(COL17A1):c.*749del	COL17A1	Deletion (3 prime UTR variant)	Junctional epidermolysis bullosa	GLikely benign
Select item 298672	NM_000494.4(COL17A1):c.*744G>T	COL17A1	Single nucleotide variant (3 prime UTR variant)	Junctional epidermolysis bullosa, non-Herlitz type	GUncertain significance
Select item 298673	NM_000494.4(COL17A1):c.*638G>A	COL17A1	Single nucleotide variant (3 prime UTR variant)	Junctional epidermolysis bullosa, non-Herlitz type	GBenign
Select item 298674	NM_000494.4(COL17A1):c.*558G>C	COL17A1	Single nucleotide variant (3 prime UTR variant)	Junctional epidermolysis bullosa, non-Herlitz type	GUncertain significance
Select item 877084	NM_000494.4(COL17A1):c.*427G>A	COL17A1	Single nucleotide variant (3 prime UTR variant)	Junctional epidermolysis bullosa, non-Herlitz type	GUncertain significance
Select item 877085	NM_000494.4(COL17A1):c.*394C>A	COL17A1	Single nucleotide variant (3 prime UTR variant)	Junctional epidermolysis bullosa, non-Herlitz type	GUncertain significance
Select item 877086	NM_000494.4(COL17A1):c.*377G>A	COL17A1	Single nucleotide variant (3 prime UTR variant)	Junctional epidermolysis bullosa, non-Herlitz type	GUncertain significance
Select item 298675	NM_000494.4(COL17A1):c.*376C>T	COL17A1	Single nucleotide variant (3 prime UTR variant)	Junctional epidermolysis bullosa, non-Herlitz type	GUncertain significance
Select item 298676	NM_000494.4(COL17A1):c.*363del	COL17A1	Deletion (3 prime UTR variant)	Junctional epidermolysis bullosa	GBenign
Select item 877087	NM_000494.4(COL17A1):c.*361T>C	COL17A1	Single nucleotide variant (3 prime UTR variant)	Junctional epidermolysis bullosa, non-Herlitz type	GUncertain significance
Select item 877088	NM_000494.4(COL17A1):c.*123T>C	COL17A1	Single nucleotide variant (3 prime UTR variant)	Junctional epidermolysis bullosa, non-Herlitz type	GUncertain significance
Select item 877089	NM_000494.4(COL17A1):c.*115A>G	COL17A1	Single nucleotide variant (3 prime UTR variant)	Junctional epidermolysis bullosa, non-Herlitz type	GUncertain significance
Select item 298677	NM_000494.4(COL17A1):c.*74G>T	COL17A1	Single nucleotide variant (3 prime UTR variant)	Junctional epidermolysis bullosa, non-Herlitz type	GBenign
Select item 298678	NM_000494.4(COL17A1):c.*64G>C	COL17A1	Single nucleotide variant (3 prime UTR variant)	Junctional epidermolysis bullosa, non-Herlitz type +1 more	GBenign
Select item 298679	NM_000494.4(COL17A1):c.*57G>A	COL17A1	Single nucleotide variant (3 prime UTR variant)	Junctional epidermolysis bullosa, non-Herlitz type	GUncertain significance
Select item 298680	NM_000494.4(COL17A1):c.*8A>G	COL17A1	Single nucleotide variant (3 prime UTR variant)	Junctional epidermolysis bullosa, non-Herlitz type +1 more	GLikely benign
Select item 3050565	NM_000494.4(COL17A1):c.*5G>C	COL17A1	Single nucleotide variant (3 prime UTR variant)	COL17A1-related disorder	GLikely benign
Select item 3001722	NM_000494.4(COL17A1):c.4491G>A (p.Pro1497=)	COL17A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2982361	NM_000494.4(COL17A1):c.4485C>T (p.Val1495=)	COL17A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2998042	NM_000494.4(COL17A1):c.4482T>C (p.Ala1494=)	COL17A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2528952	NM_000494.4(COL17A1):c.4473A>T (p.Arg1491Ser)	COL17A1 (R1491S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2155172	NM_000494.4(COL17A1):c.4460G>A (p.Arg1487Gln)	COL17A1 (R1487Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2955191	NM_000494.4(COL17A1):c.4458G>A (p.Gly1486=)	COL17A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2990755	NM_000494.4(COL17A1):c.4455T>C (p.Ala1485=)	COL17A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2835909	NM_000494.4(COL17A1):c.4443C>T (p.Asp1481=)	COL17A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2861441	NM_000494.4(COL17A1):c.4439-14C>T	COL17A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2966968	NM_000494.4(COL17A1):c.4439-16A>G	COL17A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3006586	NM_000494.4(COL17A1):c.4439-17G>C	COL17A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2997645	NM_000494.4(COL17A1):c.4439-19C>T	COL17A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2807574	NM_000494.4(COL17A1):c.4439-20A>G	COL17A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1227719	NM_000494.4(COL17A1):c.4439-29T>C	COL17A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1278946	NM_000494.4(COL17A1):c.4439-157T>G	COL17A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2962408	NM_000494.4(COL17A1):c.4438+20C>T	COL17A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2973824	NM_000494.4(COL17A1):c.4438+19A>G	COL17A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 298681	NM_000494.4(COL17A1):c.4438+13T>C	COL17A1	Single nucleotide variant (intron variant)	Junctional epidermolysis bullosa, non-Herlitz type +1 more	GConflicting classifications of pathogenicity
Select item 2773064	NM_000494.4(COL17A1):c.4438+11A>C	COL17A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2852422	NM_000494.4(COL17A1):c.4438+8T>C	COL17A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2873051	NM_000494.4(COL17A1):c.4438+3_4438+6dup	COL17A1	Duplication (splice donor variant)	not provided	GLikely benign
Select item 2757982	NM_000494.4(COL17A1):c.4410A>C (p.Arg1470=)	COL17A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3006499	NM_000494.4(COL17A1):c.4398A>G (p.Pro1466=)	COL17A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2798817	NM_000494.4(COL17A1):c.4386T>C (p.Gly1462=)	COL17A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2772365	NM_000494.4(COL17A1):c.4380A>T (p.Pro1460=)	COL17A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2772465	NM_000494.4(COL17A1):c.4371T>G (p.Pro1457=)	COL17A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1251075	NM_000494.4(COL17A1):c.4366G>A (p.Gly1456Ser)	COL17A1 (G1456S)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2020321	NM_000494.4(COL17A1):c.4358-7C>T	COL17A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2814057	NM_000494.4(COL17A1):c.4358-8C>T	COL17A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2878402	NM_000494.4(COL17A1):c.4358-10T>C	COL17A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2966368	NM_000494.4(COL17A1):c.4358-16C>T	COL17A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2753979	NM_000494.4(COL17A1):c.4358-16C>A	COL17A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1179493	NM_000494.4(COL17A1):c.4358-17C>T	COL17A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2980144	NM_000494.4(COL17A1):c.4358-19G>A	COL17A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3022441	NM_000494.4(COL17A1):c.4358-20C>G	COL17A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2980383	NM_000494.4(COL17A1):c.4358-20C>T	COL17A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1265539	NM_000494.4(COL17A1):c.4358-53C>T	COL17A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2693695	NM_000494.4(COL17A1):c.4357+19C>T	COL17A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2858937	NM_000494.4(COL17A1):c.4357+18G>A	COL17A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2838274	NM_000494.4(COL17A1):c.4357+14G>A	COL17A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2977048	NM_000494.4(COL17A1):c.4357+12C>T	COL17A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2982525	NM_000494.4(COL17A1):c.4357+11G>A	COL17A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2843081	NM_000494.4(COL17A1):c.4357+11G>C	COL17A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3001973	NM_000494.4(COL17A1):c.4357+10G>A	COL17A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2968071	NM_000494.4(COL17A1):c.4344T>G (p.Thr1448=)	COL17A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2811495	NM_000494.4(COL17A1):c.4335G>A (p.Glu1445=)	COL17A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2984174	NM_000494.4(COL17A1):c.4329A>G (p.Lys1443=)	COL17A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 298682	NM_000494.4(COL17A1):c.4317C>G (p.Pro1439=)	COL17A1	Single nucleotide variant (synonymous variant)	Junctional epidermolysis bullosa, non-Herlitz type +1 more	GBenign/Likely benign
Select item 3233786	NM_000494.4(COL17A1):c.4315C>A (p.Pro1439Thr)	COL17A1 (P1439T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2604399	NM_000494.4(COL17A1):c.4312G>A (p.Gly1438Arg)	COL17A1 (G1438R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2764316	NM_000494.4(COL17A1):c.4305C>T (p.Ala1435=)	COL17A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 298683	NM_000494.4(COL17A1):c.4304C>T (p.Ala1435Val)	COL17A1 (A1435V)	Single nucleotide variant (missense variant)	Junctional epidermolysis bullosa, non-Herlitz type +2 more	GBenign/Likely benign
Select item 2834999	NM_000494.4(COL17A1):c.4302A>G (p.Gly1434=)	COL17A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 298684	NM_000494.4(COL17A1):c.4296T>C (p.Thr1432=)	COL17A1	Single nucleotide variant (synonymous variant)	Junctional epidermolysis bullosa, non-Herlitz type +2 more	GBenign/Likely benign
Select item 2990263	NM_000494.4(COL17A1):c.4295-9C>T	COL17A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2979345	NM_000494.4(COL17A1):c.4295-15T>C	COL17A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2826903	NM_000494.4(COL17A1):c.4295-17T>C	COL17A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3004691	NM_000494.4(COL17A1):c.4295-20G>A	COL17A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2756483	NM_000494.4(COL17A1):c.4295-20G>T	COL17A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1225555	NM_000494.4(COL17A1):c.4295-29C>T	COL17A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2965371	NM_000494.4(COL17A1):c.4294+18C>T	COL17A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2772279	NM_000494.4(COL17A1):c.4294+16T>C	COL17A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2749045	NM_000494.4(COL17A1):c.4294+11C>G	COL17A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2884799	NM_000494.4(COL17A1):c.4294+10T>C	COL17A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2353841	NM_000494.4(COL17A1):c.4288T>A (p.Phe1430Ile)	COL17A1 (F1430I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2712147	NM_000494.4(COL17A1):c.4272G>A (p.Ala1424=)	COL17A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3147311	NM_000494.4(COL17A1):c.4264G>A (p.Val1422Met)	COL17A1 (V1422M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2766390	NM_000494.4(COL17A1):c.4254C>T (p.Ala1418=)	COL17A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2761147	NM_000494.4(COL17A1):c.4245C>G (p.Val1415=)	COL17A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2758214	NM_000494.4(COL17A1):c.4245C>A (p.Val1415=)	COL17A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2960688	NM_000494.4(COL17A1):c.4242G>A (p.Lys1414=)	COL17A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2891425	NM_000494.4(COL17A1):c.4230C>T (p.Pro1410=)	COL17A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2634972	NM_000494.4(COL17A1):c.4201C>A (p.Pro1401Thr)	COL17A1 (P1401T)	Single nucleotide variant (missense variant)	COL17A1-related disorder	GUncertain significance
Select item 3004700	NM_000494.4(COL17A1):c.4191C>T (p.Val1397=)	COL17A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 298685	NM_000494.4(COL17A1):c.4186A>G (p.Thr1396Ala)	COL17A1 (T1396A)	Single nucleotide variant (missense variant)	Junctional epidermolysis bullosa, non-Herlitz type	GUncertain significance
Select item 879589	NM_000494.4(COL17A1):c.4183T>C (p.Tyr1395His)	COL17A1 (Y1395H)	Single nucleotide variant (missense variant)	Junctional epidermolysis bullosa, non-Herlitz type	GUncertain significance

<< First< Prev

Page of 15