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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status	Accession
Select item 3772701.	NM_198576.4(AGRN):c.44C>G (p.Pro15Arg) GRCh37: Chr1:955596 GRCh38: Chr1:1020216	AGRN	P15R	not provided	Uncertain significance (Feb 3, 2017)	criteria provided, single submitter	VCV000377270
Select item 9306332.	NM_198576.4(AGRN):c.1177+4_1177+50del GRCh37: Chr1:977059-977105 GRCh38: Chr1:1041679-1041725	AGRN		Myasthenic syndrome, congenital, 8	Likely pathogenic (Oct 24, 2018)	criteria provided, single submitter	VCV000930633
Select item 6236643.	NM_198576.4(AGRN):c.1507G>A (p.Gly503Ser) GRCh37: Chr1:978741 GRCh38: Chr1:1043361	AGRN	G503S, G398S	not provided	Uncertain significance (Jun 1, 2018)	criteria provided, single submitter	VCV000623664
Select item 2631714.	NM_198576.4(AGRN):c.2536+45C>T GRCh37: Chr1:980948 GRCh38: Chr1:1045568	AGRN		not specified	Likely benign	criteria provided, single submitter	VCV000263171
Select item 2631745.	NM_198576.4(AGRN):c.2589G>A (p.Thr863=) GRCh37: Chr1:981165 GRCh38: Chr1:1045785	AGRN		not specified	Likely benign	criteria provided, single submitter	VCV000263174
Select item 9323166.	NM_198576.4(AGRN):c.2590G>A (p.Gly864Arg) GRCh37: Chr1:981166 GRCh38: Chr1:1045786	AGRN	G864R, G759R	not provided	Uncertain significance (Jun 1, 2020)	criteria provided, single submitter	VCV000932316
Select item 2631757.	NM_198576.4(AGRN):c.2681-16C>G GRCh37: Chr1:981328 GRCh38: Chr1:1045948	AGRN		not specified	Likely benign	criteria provided, single submitter	VCV000263175
Select item 8060278.	NM_198576.4(AGRN):c.3194G>A (p.Gly1065Glu) GRCh37: Chr1:982059 GRCh38: Chr1:1046679	AGRN	G1065E, G960E	not provided	Uncertain significance (May 1, 2016)	criteria provided, single submitter	VCV000806027
Select item 2631809.	NM_198576.4(AGRN):c.3388+19G>A GRCh37: Chr1:982356 GRCh38: Chr1:1046976	AGRN		not specified	Likely benign	criteria provided, single submitter	VCV000263180
Select item 87268810.	NM_198576.4(AGRN):c.3568C>A (p.Arg1190Ser) GRCh37: Chr1:983004 GRCh38: Chr1:1047624	AGRN	R1190S, R1085S	not provided	Uncertain significance (Jul 1, 2019)	criteria provided, single submitter	VCV000872688
Select item 93231711.	NM_198576.4(AGRN):c.4605G>T (p.Gly1535=) GRCh37: Chr1:985036 GRCh38: Chr1:1049656	AGRN		not provided	Likely benign (Jun 1, 2020)	criteria provided, single submitter	VCV000932317
Select item 80602812.	NM_198576.4(AGRN):c.4645G>A (p.Gly1549Arg) GRCh37: Chr1:985076 GRCh38: Chr1:1049696	AGRN	G1444R, G1549R	not provided	Uncertain significance (Sep 1, 2018)	criteria provided, single submitter	VCV000806028
Select item 26319013.	NM_198576.4(AGRN):c.4879+17T>A GRCh37: Chr1:985434 GRCh38: Chr1:1050054	AGRN		not specified	Likely benign	criteria provided, single submitter	VCV000263190
Select item 26319114.	NM_198576.4(AGRN):c.4879+29G>T GRCh37: Chr1:985446 GRCh38: Chr1:1050066	AGRN		not specified	Benign	criteria provided, single submitter	VCV000263191
Select item 26319215.	NM_198576.4(AGRN):c.4879+32G>A GRCh37: Chr1:985449 GRCh38: Chr1:1050069	AGRN		not specified	Benign	criteria provided, single submitter	VCV000263192
Select item 26319616.	NM_198576.4(AGRN):c.5337C>T (p.Ala1779=) GRCh37: Chr1:986716 GRCh38: Chr1:1051336	AGRN		not specified	Likely benign	criteria provided, single submitter	VCV000263196
Select item 26320117.	NM_198576.4(AGRN):c.6054G>A (p.Arg2018=) GRCh37: Chr1:990277 GRCh38: Chr1:1054897	AGRN		not specified	Likely benign	criteria provided, single submitter	VCV000263201
Select item 42488518.	NM_080605.4(B3GALT6):c.338A>G (p.Gln113Arg) GRCh37: Chr1:1167996 GRCh38: Chr1:1232616	B3GALT6	Q113R	not provided	Uncertain significance (Mar 1, 2017)	criteria provided, single submitter	VCV000424885
Select item 101271819.	NM_080605.4(B3GALT6):c.688_708dup (p.Leu230_Arg236dup) GRCh37: Chr1:1168334-1168335 GRCh38: Chr1:1232954-1232955	B3GALT6		not provided	Uncertain significance (Oct 1, 2020)	criteria provided, single submitter	VCV001012718
Select item 80602920.	NM_080605.4(B3GALT6):c.676C>T (p.His226Tyr) GRCh37: Chr1:1168334 GRCh38: Chr1:1232954	B3GALT6	H226Y	not provided	Uncertain significance (Oct 1, 2017)	criteria provided, single submitter	VCV000806029
Select item 80603021.	NM_080605.4(B3GALT6):c.681C>G (p.Tyr227Ter) GRCh37: Chr1:1168339 GRCh38: Chr1:1232959	B3GALT6	Y227*	not provided	Likely pathogenic (Jul 1, 2019)	criteria provided, single submitter	VCV000806030
Select item 80603122.	NM_080605.4(B3GALT6):c.693C>G (p.Ser231Arg) GRCh37: Chr1:1168351 GRCh38: Chr1:1232971	B3GALT6	S231R	not provided	Uncertain significance (Jul 1, 2019)	criteria provided, single submitter	VCV000806031
Select item 93159223.	NM_001330311.2(DVL1):c.2078_*7del (p.Asp693_Ter696delinsXaa) GRCh37: Chr1:1271515-1271532 GRCh38: Chr1:1336135-1336152	DVL1		Robinow syndrome, autosomal dominant 1	Uncertain significance (Sep 23, 2019)	criteria provided, single submitter	VCV000931592
Select item 44544324.	NM_001330311.2(DVL1):c.1777C>T (p.Arg593Trp) GRCh37: Chr1:1271833 GRCh38: Chr1:1336453	DVL1	R568W, R593W	not provided	Uncertain significance (Aug 28, 2017)	criteria provided, single submitter	VCV000445443
Select item 93163025.	NM_001330311.2(DVL1):c.1682_1683dup (p.Ser562fs) GRCh37: Chr1:1273387-1273388 GRCh38: Chr1:1338007-1338008	DVL1	S537fs, S562fs	Robinow syndrome, autosomal dominant 1	Likely pathogenic (Aug 9, 2019)	criteria provided, single submitter	VCV000931630
Select item 20818926.	NM_001330311.2(DVL1):c.1507+1_1508-1del GRCh37: Chr1:1273564-1273648 GRCh38: Chr1:1338184-1338268	DVL1		not provided	not provided	no assertion provided	VCV000208189
Select item 83032727.	NM_022834.5(VWA1):c.52_61GCGCGGAGCG[3] (p.Gly25fs) GRCh37: Chr1:1371178-1371179 GRCh38: Chr1:1435798-1435799	VWA1	G25fs	NEUROPATHY, HEREDITARY MOTOR, WITH MYOPATHIC FEATURES, Neuromyopathy	Pathogenic/Likely pathogenic (Mar 5, 2021)	no assertion criteria provided	VCV000830327
Select item 83032928.	NM_022834.5(VWA1):c.186_209del (p.Pro63_Ala70del) GRCh37: Chr1:1372416-1372439 GRCh38: Chr1:1437036-1437059	VWA1		Neuromyopathy	Likely pathogenic (Jan 1, 2020)	no assertion criteria provided	VCV000830329
Select item 101271929.	NM_001170535.3(ATAD3A):c.360C>T (p.Ser120=) GRCh37: Chr1:1452768 GRCh38: Chr1:1517388	ATAD3A		not provided	Likely benign (Nov 1, 2020)	criteria provided, single submitter	VCV001012719
Select item 98683330.	NM_001170535.3(ATAD3A):c.384+1G>A GRCh37: Chr1:1452793 GRCh38: Chr1:1517413	ATAD3A		not provided	Likely pathogenic (Oct 23, 2020)	criteria provided, single submitter	VCV000986833
Select item 80603231.	NM_001170535.3(ATAD3A):c.419G>A (p.Arg140His) GRCh37: Chr1:1453130 GRCh38: Chr1:1517750	ATAD3A	R61H, R188H, R140H	not provided	Uncertain significance (Oct 1, 2018)	criteria provided, single submitter	VCV000806032
Select item 80603332.	NM_001170535.3(ATAD3A):c.571G>A (p.Ala191Thr) GRCh37: Chr1:1455577 GRCh38: Chr1:1520197	ATAD3A	A191T, A112T, A239T	not provided	Uncertain significance (Oct 1, 2018)	criteria provided, single submitter	VCV000806033
Select item 80603433.	NM_001170535.3(ATAD3A):c.1725A>G (p.Glu575=) GRCh37: Chr1:1469416 GRCh38: Chr1:1534036	ATAD3A		not provided	Likely benign (Dec 1, 2018)	criteria provided, single submitter	VCV000806034
Select item 80603534.	NM_001114748.2(TMEM240):c.408C>A (p.Ser136Arg) GRCh37: Chr1:1470853 GRCh38: Chr1:1535473	TMEM240	S136R	not provided	Uncertain significance (Jun 1, 2019)	criteria provided, single submitter	VCV000806035
Select item 80603635.	NM_001114748.2(TMEM240):c.264C>T (p.Ile88=) GRCh37: Chr1:1471078 GRCh38: Chr1:1535698	TMEM240		not provided	Uncertain significance (Oct 1, 2017)	criteria provided, single submitter	VCV000806036
Select item 101272036.	NM_001114748.2(TMEM240):c.143T>G (p.Val48Gly) GRCh37: Chr1:1475085 GRCh38: Chr1:1539705	TMEM240	V48G	not provided	Uncertain significance (Oct 1, 2020)	criteria provided, single submitter	VCV001012720
Select item 52344437.	NM_033486.3(CDK11B):c.119A>G (p.Asp40Gly) GRCh37: Chr1:1586931 GRCh38: Chr1:1655477	CDK11B	D40G, D6G	Seizures	Uncertain significance (Jan 1, 2017)	criteria provided, single submitter	VCV000523444
Select item 44414838.	NM_002074.5(GNB1):c.867C>T (p.Tyr289=) GRCh37: Chr1:1720541 GRCh38: Chr1:1789102	GNB1		not provided	Uncertain significance (May 1, 2017)	criteria provided, single submitter	VCV000444148
Select item 99596339.	NM_002074.5(GNB1):c.727A>G (p.Thr243Ala) GRCh37: Chr1:1720681 GRCh38: Chr1:1789242	GNB1	T143A, T243A	Mental retardation, autosomal dominant 42	Pathogenic (Feb 26, 2020)	no assertion criteria provided	VCV000995963
Select item 80603740.	NM_002074.5(GNB1):c.582T>C (p.Pro194=) GRCh37: Chr1:1721951 GRCh38: Chr1:1790512	GNB1		not provided	Likely benign (Apr 1, 2018)	criteria provided, single submitter	VCV000806037
Select item 99679741.	NM_002074.5(GNB1):c.347G>A (p.Gly116Asp) GRCh37: Chr1:1735941 GRCh38: Chr1:1804502	GNB1	G116D, G16D	not provided	Likely pathogenic (Feb 1, 2021)	criteria provided, single submitter	VCV000996797
Select item 99596242.	NM_002074.5(GNB1):c.287G>T (p.Arg96Leu) GRCh37: Chr1:1736001 GRCh38: Chr1:1804562	GNB1	R96L	Mental retardation, autosomal dominant 42	Pathogenic (Feb 26, 2020)	no assertion criteria provided	VCV000995962
Select item 80603843.	NM_002074.5(GNB1):c.12T>G (p.Leu4=) GRCh37: Chr1:1756881 GRCh38: Chr1:1825442	GNB1		not provided	Likely benign (Dec 1, 2018)	criteria provided, single submitter	VCV000806038
Select item 25682444.	NM_000815.5(GABRD):c.69-19G>A GRCh37: Chr1:1956362 GRCh38: Chr1:2024923	GABRD		not specified	Benign	criteria provided, single submitter	VCV000256824
Select item 80603945.	NM_000815.5(GABRD):c.167G>A (p.Arg56Gln) GRCh37: Chr1:1956479 GRCh38: Chr1:2025040	GABRD	R56Q	not provided	Uncertain significance (May 1, 2016)	criteria provided, single submitter	VCV000806039
Select item 93115546.	NM_000815.5(GABRD):c.337A>G (p.Ser113Gly) GRCh37: Chr1:1957044 GRCh38: Chr1:2025605	GABRD	S113G	Epilepsy, idiopathic generalized 10	Uncertain significance (Aug 12, 2019)	criteria provided, single submitter	VCV000931155
Select item 25682547.	NM_000815.5(GABRD):c.816C>T (p.Ser272=) GRCh37: Chr1:1960674 GRCh38: Chr1:2029235	GABRD		not specified	Benign	criteria provided, single submitter	VCV000256825
Select item 25682248.	NM_000815.5(GABRD):c.1060-14C>T GRCh37: Chr1:1961408 GRCh38: Chr1:2029969	GABRD		not specified	Benign	criteria provided, single submitter	VCV000256822
Select item 72357349.	NM_002744.6(PRKCZ):c.1764C>T (p.Thr588=) GRCh37: Chr1:2116433 GRCh38: Chr1:2184994	PRKCZ, FAAP20		not provided	Benign (Dec 31, 2019)	criteria provided, single submitter	VCV000723573
Select item 97854050.	NM_003036.4(SKI):c.163G>C (p.Ala55Pro) GRCh37: Chr1:2160368 GRCh38: Chr1:2228929	SKI	A55P	not provided	Uncertain significance (Mar 11, 2018)	criteria provided, single submitter	VCV000978540
Select item 25890151.	NM_003036.4(SKI):c.495C>T (p.Gly165=) GRCh37: Chr1:2160700 GRCh38: Chr1:2229261	SKI		not specified	Likely benign	criteria provided, single submitter	VCV000258901
Select item 49301452.	NM_003036.4(SKI):c.1025A>G (p.Gln342Arg) GRCh37: Chr1:2234472 GRCh38: Chr1:2303033	SKI	Q342R	not provided	Uncertain significance (Oct 1, 2017)	criteria provided, single submitter	VCV000493014
Select item 44415053.	NM_003036.4(SKI):c.1124G>A (p.Arg375His) GRCh37: Chr1:2234752 GRCh38: Chr1:2303313	SKI	R375H	not provided	Uncertain significance (Jun 1, 2017)	criteria provided, single submitter	VCV000444150
Select item 93231854.	NM_003036.4(SKI):c.1128C>T (p.Leu376=) GRCh37: Chr1:2234756 GRCh38: Chr1:2303317	SKI		not provided	Likely benign (Apr 1, 2020)	criteria provided, single submitter	VCV000932318
Select item 81144155.	NM_003036.4(SKI):c.1317C>T (p.Val439=) GRCh37: Chr1:2235384 GRCh38: Chr1:2303945	SKI		Shprintzen-Goldberg syndrome	Likely benign (May 23, 2019)	criteria provided, single submitter	VCV000811441
Select item 63697956.	NM_003036.4(SKI):c.1336C>T (p.Leu446Phe) GRCh37: Chr1:2235403 GRCh38: Chr1:2303964	SKI	L446F	not provided	Uncertain significance (Mar 5, 2019)	criteria provided, single submitter	VCV000636979
Select item 99279557.	NM_003036.4(SKI):c.1439C>T (p.Ser480Leu) GRCh37: Chr1:2235506 GRCh38: Chr1:2304067	SKI	S480L	Intellectual disability, Joint laxity	Uncertain significance (Jul 19, 2019)	criteria provided, single submitter	VCV000992795
Select item 93231958.	NM_003036.4(SKI):c.1687C>T (p.Leu563=) GRCh37: Chr1:2235944 GRCh38: Chr1:2304505	SKI		not provided	Uncertain significance (Jun 1, 2020)	criteria provided, single submitter	VCV000932319
Select item 49301559.	NM_003036.4(SKI):c.1968G>T (p.Ala656=) GRCh37: Chr1:2237659 GRCh38: Chr1:2306220	SKI		not provided	Likely benign (Jul 1, 2017)	criteria provided, single submitter	VCV000493015
Select item 62366660.	NM_003036.4(SKI):c.1994C>T (p.Ala665Val) GRCh37: Chr1:2237685 GRCh38: Chr1:2306246	SKI	A665V	not provided	Uncertain significance (Jul 1, 2018)	criteria provided, single submitter	VCV000623666
Select item 93232061.	NM_003036.4(SKI):c.2057C>T (p.Ala686Val) GRCh37: Chr1:2238074 GRCh38: Chr1:2306635	SKI	A686V	not provided	Uncertain significance (Apr 1, 2020)	criteria provided, single submitter	VCV000932320
Select item 87638562.	NM_002617.4(PEX10):c.*951G>C GRCh37: Chr1:2336254 GRCh38: Chr1:2404815	PEX10, RER1		Peroxisome biogenesis disorder 6A	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter	VCV000876385
Select item 87638663.	NM_002617.4(PEX10):c.*905A>C GRCh37: Chr1:2336300 GRCh38: Chr1:2404861	PEX10, RER1		Peroxisome biogenesis disorder 6A	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter	VCV000876386
Select item 29625264.	NM_007033.5(RER1):c.*1788C>T GRCh37: Chr1:2336351 GRCh38: Chr1:2404912	PEX10, RER1		Peroxisome biogenesis disorder 6A	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter	VCV000296252
Select item 29625365.	NM_007033.5(RER1):c.*1804G>A GRCh37: Chr1:2336367 GRCh38: Chr1:2404928	PEX10, RER1		Peroxisome biogenesis disorder 6A	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter	VCV000296253
Select item 29625466.	NM_007033.5(RER1):c.*1807G>A GRCh37: Chr1:2336370 GRCh38: Chr1:2404931	PEX10, RER1		Peroxisome biogenesis disorder 6A	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter	VCV000296254
Select item 87443467.	NM_002617.4(PEX10):c.*824G>A GRCh37: Chr1:2336381 GRCh38: Chr1:2404942	PEX10, RER1		Peroxisome biogenesis disorder 6A	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter	VCV000874434
Select item 29625568.	NM_007033.5(RER1):c.*1844G>A GRCh37: Chr1:2336407 GRCh38: Chr1:2404968	RER1, PEX10		Peroxisome biogenesis disorder 6A	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter	VCV000296255
Select item 29625669.	NM_007033.5(RER1):c.*1860G>T GRCh37: Chr1:2336423 GRCh38: Chr1:2404984	PEX10, RER1		Peroxisome biogenesis disorder 6A	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter	VCV000296256
Select item 29625770.	NM_007033.5(RER1):c.*1902dup GRCh37: Chr1:2336460-2336461 GRCh38: Chr1:2405021-2405022	PEX10, RER1		Peroxisome biogenesis disorder 1A (Zellweger)	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter	VCV000296257
Select item 29625871.	NM_007033.5(RER1):c.*1910C>T GRCh37: Chr1:2336473 GRCh38: Chr1:2405034	PEX10, RER1		Peroxisome biogenesis disorder 6A	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter	VCV000296258
Select item 29625972.	NM_007033.5(RER1):c.*1954C>A GRCh37: Chr1:2336517 GRCh38: Chr1:2405078	PEX10, RER1		Peroxisome biogenesis disorder 6A	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter	VCV000296259
Select item 87534173.	NM_002617.4(PEX10):c.*686C>G GRCh37: Chr1:2336519 GRCh38: Chr1:2405080	PEX10, RER1		Peroxisome biogenesis disorder 6A	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter	VCV000875341
Select item 87534274.	NM_002617.4(PEX10):c.*676C>T GRCh37: Chr1:2336529 GRCh38: Chr1:2405090	RER1, PEX10		Peroxisome biogenesis disorder 6A	Likely benign (Jan 13, 2018)	criteria provided, single submitter	VCV000875342
Select item 87534375.	NM_002617.4(PEX10):c.*643C>T GRCh37: Chr1:2336562 GRCh38: Chr1:2405123	PEX10, RER1		Peroxisome biogenesis disorder 6A	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter	VCV000875343
Select item 29626076.	NM_007033.5(RER1):c.*2015G>A GRCh37: Chr1:2336578 GRCh38: Chr1:2405139	PEX10, RER1		Peroxisome biogenesis disorder 6A	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter	VCV000296260
Select item 87534477.	NM_002617.4(PEX10):c.*595G>A GRCh37: Chr1:2336610 GRCh38: Chr1:2405171	PEX10, RER1		Peroxisome biogenesis disorder 6A	Likely benign (Jan 12, 2018)	criteria provided, single submitter	VCV000875344
Select item 29626178.	NM_007033.5(RER1):c.*2048G>A GRCh37: Chr1:2336611 GRCh38: Chr1:2405172	PEX10, RER1		Peroxisome biogenesis disorder 6A	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter	VCV000296261
Select item 29626279.	NM_007033.5(RER1):c.*2143C>T GRCh37: Chr1:2336706 GRCh38: Chr1:2405267	PEX10, RER1		Peroxisome biogenesis disorder 6A	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter	VCV000296262
Select item 87534580.	NM_002617.4(PEX10):c.*445G>A GRCh37: Chr1:2336760 GRCh38: Chr1:2405321	RER1, PEX10		Peroxisome biogenesis disorder 6A	Uncertain significance (Jan 22, 2018)	criteria provided, single submitter	VCV000875345
Select item 29626381.	NM_007033.5(RER1):c.*2222C>T GRCh37: Chr1:2336785 GRCh38: Chr1:2405346	RER1, PEX10		Peroxisome biogenesis disorder 6A	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter	VCV000296263
Select item 29626482.	NM_007033.5(RER1):c.*2232C>T GRCh37: Chr1:2336795 GRCh38: Chr1:2405356	PEX10, RER1		Peroxisome biogenesis disorder 6A	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter	VCV000296264
Select item 87539883.	NM_002617.4(PEX10):c.*401A>C GRCh37: Chr1:2336804 GRCh38: Chr1:2405365	PEX10, RER1		Peroxisome biogenesis disorder 6A	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter	VCV000875398
Select item 29626584.	NM_007033.5(RER1):c.*2290C>T GRCh37: Chr1:2336853 GRCh38: Chr1:2405414	PEX10, RER1		Peroxisome biogenesis disorder 6A	Benign (Jan 13, 2018)	criteria provided, single submitter	VCV000296265
Select item 99178885.	NM_002617.4(PEX10):c.913-9T>C GRCh37: Chr1:2337282 GRCh38: Chr1:2405843	PEX10		Zellweger syndrome	Uncertain significance (Aug 17, 2020)	no assertion criteria provided	VCV000991788
Select item 44604686.	NM_153818.1(PEX10):c.700C>T (p.Arg234Cys) GRCh37: Chr1:2338295 GRCh38: Chr1:2406856	PEX10	R234C, R214C	Zellweger syndrome, not provided	Uncertain significance (Sep 5, 2017)	criteria provided, single submitter	VCV000446046
Select item 99178987.	NM_002617.4(PEX10):c.601-3C>G GRCh37: Chr1:2338337 GRCh38: Chr1:2406898	PEX10	Q219E, Q220E, Q75E	Zellweger syndrome	Uncertain significance (Aug 13, 2020)	no assertion criteria provided	VCV000991789
Select item 99179088.	NM_002617.4(PEX10):c.533A>G (p.His178Arg) GRCh37: Chr1:2339958 GRCh38: Chr1:2408519	PEX10	H178R, H34R	Zellweger syndrome	Uncertain significance (Aug 5, 2020)	no assertion criteria provided	VCV000991790
Select item 99179189.	NM_002617.4(PEX10):c.81C>G (p.Ser27Arg) GRCh37: Chr1:2343861 GRCh38: Chr1:2412422	PEX10	S27R	Zellweger syndrome	Uncertain significance (Sep 4, 2020)	no assertion criteria provided	VCV000991791
Select item 93045790.	NM_002617.4(PEX10):c.50A>G (p.Lys17Arg) GRCh37: Chr1:2343892 GRCh38: Chr1:2412453	PEX10	K17R	Peroxisome biogenesis disorder 6A	Uncertain significance (Apr 25, 2019)	criteria provided, single submitter	VCV000930457
Select item 55465591.	NM_002617.3(PEX10):c.20del (p.Ser7fs) GRCh37: Chr1:2343922 GRCh38: Chr1:2412483	PEX10, PLCH2	S7fs	Peroxisome biogenesis disorder 6A, Peroxisome biogenesis disorder 6B	Likely pathogenic (Oct 30, 2017)	criteria provided, single submitter	VCV000554655
Select item 28432192.	NM_153818.1(PEX10):c.6C>G (p.Ala2=) GRCh37: Chr1:2343936 GRCh38: Chr1:2412497	PEX10, PLCH2		Peroxisome biogenesis disorder 6A, not provided, not specified	Benign/Likely benign (Jan 13, 2018)	criteria provided, multiple submitters, no conflicts	VCV000284321
Select item 44930493.	NM_002617.3(PEX10):c.4del (p.Ala2fs) GRCh37: Chr1:2343938 GRCh38: Chr1:2412499	PEX10, PLCH2	A2fs	Peroxisome biogenesis disorder 6B, Zellweger syndrome, Peroxisome biogenesis disorders, Zellweger syndrome spectrum, not provided	Pathogenic (Jan 11, 2021)	criteria provided, multiple submitters, no conflicts	VCV000449304
Select item 16243494.	NM_153818.1(PEX10):c.2T>C (p.Met1Thr) GRCh37: Chr1:2343940 GRCh38: Chr1:2412501	PEX10, PLCH2	M1T	Peroxisome biogenesis disorder 6A, Peroxisome biogenesis disorder 6B, Peroxisome biogenesis disorder 6B	Pathogenic (Feb 24, 2017)	criteria provided, single submitter	VCV000162434
Select item 28000295.	NM_153818.1(PEX10):c.1A>G (p.Met1Val) GRCh37: Chr1:2343941 GRCh38: Chr1:2412502	PEX10, PLCH2	M1V	Peroxisome biogenesis disorder 6A, Peroxisome biogenesis disorder 6B, not provided	Pathogenic/Likely pathogenic (Feb 15, 2018)	criteria provided, multiple submitters, no conflicts	VCV000280002
Select item 59389996.	NM_002617.3(PEX10):c.-3G>A GRCh37: Chr1:2343944 GRCh38: Chr1:2412505	PEX10, PLCH2		not provided	Uncertain significance (Sep 1, 2017)	criteria provided, single submitter	VCV000593899
Select item 87358797.	NM_002617.4(PEX10):c.-9C>T GRCh37: Chr1:2343950 GRCh38: Chr1:2412511	PEX10, PLCH2		Peroxisome biogenesis disorder 6A	Uncertain significance (Apr 27, 2017)	criteria provided, single submitter	VCV000873587
Select item 87358898.	NM_002617.4(PEX10):c.-18C>T GRCh37: Chr1:2343959 GRCh38: Chr1:2412520	PEX10, PLCH2		Peroxisome biogenesis disorder 6A	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter	VCV000873588
Select item 29628499.	NM_002617.3(PEX10):c.-52_-51del GRCh37: Chr1:2343992-2343993 GRCh38: Chr1:2412553-2412554	PEX10, PLCH2		Peroxisome biogenesis disorder 1A (Zellweger)	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter	VCV000296284
Select item 874591100.	NM_001374426.1(PEX10):c.-321+1018G>T GRCh37: Chr1:2344018 GRCh38: Chr1:2412579	PEX10, PLCH2		Peroxisome biogenesis disorder 6A	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter	VCV000874591

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