ClinVar for Gene (Select 7216) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3366901	NC_000023.10:g.(?_54610638)_(154689386_?)dup	ABCB7, ABCD1 +526 more	Duplication	Hereditary factor VIII deficiency disease	GUncertain significance
Select item 3329143	NM_001039705.3(TRO):c.3715T>A (p.Phe1239Ile)	TRO (F770I +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3329142	NM_001039705.3(TRO):c.3648T>A (p.Ser1216Arg)	TRO (S819R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3329141	NM_001039705.3(TRO):c.556A>G (p.Ile186Val)	TRO (I186V)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3329140	NM_001039705.3(TRO):c.2699G>C (p.Gly900Ala)	TRO (G503A +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3329139	NM_001039705.3(TRO):c.3814G>A (p.Gly1272Arg)	TRO (G1272R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3329138	NM_001039705.3(TRO):c.1298G>A (p.Arg433Gln)	TRO (R36Q +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3329137	NM_001039705.3(TRO):c.1073C>T (p.Pro358Leu)	TRO (P358L)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3329136	NM_001039705.3(TRO):c.2584G>A (p.Val862Ile)	TRO (V465I +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3329135	NM_001039705.3(TRO):c.2537G>T (p.Ser846Ile)	TRO (S377I +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3329133	NM_001039705.3(TRO):c.1346A>G (p.Asn449Ser)	TRO (N52S +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3242589	GRCh38/hg38 Xp22.33-q28(chrX:2757837-156030895)x2	LOC130068417, LOC130068418 +2599 more	Copy number gain	Klinefelter syndrome	GPathogenic
Select item 3183179	NM_001039705.3(TRO):c.668C>T (p.Ser223Leu)	TRO (S223L)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3183178	NM_001039705.3(TRO):c.62C>T (p.Pro21Leu)	TRO (P21L)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3183177	NM_001039705.3(TRO):c.4192G>A (p.Gly1398Ser)	TRO (G1001S +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3183176	NM_001039705.3(TRO):c.4105G>A (p.Gly1369Ser)	TRO (G1369S +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 3183175	NM_001039705.3(TRO):c.385G>A (p.Ala129Thr)	TRO (A129T)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3183173	NM_001039705.3(TRO):c.3659G>A (p.Gly1220Asp)	TRO (G1220D +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3183172	NM_001039705.3(TRO):c.3508G>A (p.Gly1170Ser)	TRO (G1170S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3183171	NM_001039705.3(TRO):c.3239G>C (p.Ser1080Thr)	TRO (S611T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3183170	NM_001039705.3(TRO):c.2900C>G (p.Ala967Gly)	TRO (A498G +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3183169	NM_001039705.3(TRO):c.2857C>G (p.Leu953Val)	TRO (L556V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3183167	NM_001039705.3(TRO):c.2573G>A (p.Gly858Asp)	TRO (G461D +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3183166	NM_001039705.3(TRO):c.22G>A (p.Gly8Arg)	TRO (G8R)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3183165	NM_001039705.3(TRO):c.2284G>A (p.Ala762Thr)	TRO (A762T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3183164	NM_001039705.3(TRO):c.2261G>A (p.Gly754Glu)	TRO (G357E +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3183162	NM_001039705.3(TRO):c.1415G>A (p.Arg472Lys)	TRO (R75K +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3062511	GRCh37/hg19 Xp22.33-11.1(chrX:168546-58364114)	ACE2, ACOT9 +314 more	Copy number loss	not specified	GPathogenic
Select item 3062471	GRCh37/hg19 Xp22.33-11.21(chrX:168546-55653170)	ACE2, ACOT9 +305 more	Copy number loss	not specified	GPathogenic
Select item 2685748	GRCh37/hg19 Xp11.22-11.21(chrX:54123342-55013132)x2	FAM120C, FGD1 +8 more	Copy number gain	not provided	GUncertain significance
Select item 2660684	NM_001039705.3(TRO):c.4188C>T (p.Phe1396=)	TRO	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2660683	NM_001039705.3(TRO):c.3585C>T (p.Thr1195=)	TRO	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2660682	NM_001039705.3(TRO):c.3407G>T (p.Ser1136Ile)	TRO (S1136I +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2660681	NM_001039705.3(TRO):c.2624C>T (p.Thr875Met)	TRO (T406M +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2660680	NM_001039705.3(TRO):c.2526T>C (p.Ser842=)	TRO	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2660679	NM_001039705.3(TRO):c.1700+7C>T	TRO	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2660678	NM_001039705.3(TRO):c.1313C>T (p.Pro438Leu)	TRO (P41L +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GLikely benign
Select item 2660677	NM_001039705.3(TRO):c.429G>A (p.Lys143=)	TRO	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2623740	NM_001039705.3(TRO):c.2911G>A (p.Gly971Ser)	TRO (G971S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2615657	NM_001039705.3(TRO):c.604C>G (p.Pro202Ala)	TRO (P202A)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2548575	NM_001039705.3(TRO):c.314A>C (p.Gln105Pro)	TRO (Q105P)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2538448	NM_001039705.3(TRO):c.2056G>A (p.Asp686Asn)	TRO (D289N +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2531609	NM_001039705.3(TRO):c.448G>A (p.Ala150Thr)	TRO (A150T)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2528200	NM_001039705.3(TRO):c.1349A>T (p.Lys450Met)	TRO (K450M +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2516051	NM_001039705.3(TRO):c.1694G>A (p.Arg565His)	TRO (R96H +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2509225	NM_001039705.3(TRO):c.3413G>A (p.Ser1138Asn)	TRO (S741N +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2506546	GRCh37/hg19 Xp22.33-q28(chrX:200855-155240074)	ABCB7, ABCD1 +818 more	Copy number gain	Klinefelter syndrome	GPathogenic
Select item 2493244	NM_001039705.3(TRO):c.3091G>A (p.Gly1031Ser)	TRO (G634S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2489932	NM_001039705.3(TRO):c.4102A>G (p.Ser1368Gly)	TRO (S899G +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2473453	NM_001039705.3(TRO):c.1007G>A (p.Arg336Gln)	TRO (R336Q)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2471618	NM_001039705.3(TRO):c.885C>G (p.Ile295Met)	TRO (I295M)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2467108	NM_001039705.3(TRO):c.550G>A (p.Ala184Thr)	TRO (A184T)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2461452	NM_001039705.3(TRO):c.3951T>A (p.Asp1317Glu)	TRO (D1317E +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2425562	NC_000023.10:g.(?_53222149)_(55057617_?)del	ALAS2, APEX2 +19 more	Deletion	Congenital muscular hypertrophy-cerebral syndrome	GPathogenic
Select item 2410860	NM_001039705.3(TRO):c.382C>G (p.Gln128Glu)	TRO (Q128E)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2407451	NM_001039705.3(TRO):c.2567C>T (p.Thr856Met)	TRO (T459M +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2395329	NM_001039705.3(TRO):c.3748G>A (p.Gly1250Ser)	TRO (G781S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2389040	NM_001039705.3(TRO):c.4264A>G (p.Ser1422Gly)	TRO (S1422G +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2385375	NM_001039705.3(TRO):c.2333G>A (p.Gly778Asp)	TRO (G309D +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2371575	NM_001039705.3(TRO):c.62C>G (p.Pro21Arg)	TRO (P21R)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2370422	NM_001039705.3(TRO):c.2086G>A (p.Asp696Asn)	TRO (D227N +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2367375	NM_001039705.3(TRO):c.2089G>A (p.Ala697Thr)	TRO (A300T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2359825	NM_001039705.3(TRO):c.3733A>G (p.Thr1245Ala)	TRO (T776A +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2350880	NM_001039705.3(TRO):c.913G>T (p.Ala305Ser)	TRO (A305S)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2338517	NM_001039705.3(TRO):c.3710C>T (p.Ser1237Phe)	TRO (S1237F +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2332683	NM_001039705.3(TRO):c.3077A>G (p.Asn1026Ser)	TRO (N1026S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2328730	NM_001039705.3(TRO):c.206G>A (p.Ser69Asn)	TRO (S69N)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2323409	NM_001039705.3(TRO):c.1168G>A (p.Ala390Thr)	TRO (A390T)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2294494	NM_001039705.3(TRO):c.1918C>T (p.Arg640Cys)	TRO (R243C +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2282394	NM_001039705.3(TRO):c.890C>T (p.Pro297Leu)	TRO (P297L)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2265582	NM_001039705.3(TRO):c.883A>C (p.Ile295Leu)	TRO (I295L)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2264021	NM_001039705.3(TRO):c.346A>G (p.Ser116Gly)	TRO (S116G)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2262821	NM_001039705.3(TRO):c.2518A>T (p.Thr840Ser)	TRO (T443S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2240399	NM_001039705.3(TRO):c.3149G>C (p.Gly1050Ala)	TRO (G1050A +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2224572	NM_001039705.3(TRO):c.3280A>G (p.Ile1094Val)	TRO (I1094V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2214822	NM_001039705.3(TRO):c.2723G>C (p.Ser908Thr)	TRO (S908T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2211266	NM_001039705.3(TRO):c.4093G>A (p.Val1365Ile)	TRO (V968I +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 1808241	GRCh37/hg19 Xp11.22-11.21(chrX:53854115-54953273)x2	FAM120C, FGD1 +8 more	Copy number gain	not provided	GUncertain significance
Select item 1807829	GRCh37/hg19 Xp11.22-q11.2(chrX:53731940-63932866)x3	ALAS2, AMER1 +34 more	Copy number gain	not provided	GLikely pathogenic
Select item 1707442	GRCh37/hg19 Xp22.2-q28(chrX:11522765-155233731)x1	ABCB7, ABCD1 +790 more	Copy number loss	See cases	GPathogenic
Select item 1704345	GRCh37/hg19 Xp22.33-q28(chrX:61545-155226048)x2	ABCB7, ABCD1 +818 more	Copy number gain	Klinefelter syndrome	GPathogenic
Select item 1703583	GRCh37/hg19 Xp22.33-11.21(chrX:168546-57841304)	ACE2, ACOT9 +315 more	Copy number loss	Turner syndrome	GPathogenic
Select item 1703582	Single allele	ADGRG2, ACE2 +309 more	Complex	Turner syndrome	GPathogenic
Select item 1703580	GRCh37/hg19 Xp22.33-q28(chrX:1-155270560)	ABCB7, ABCD1 +819 more	Copy number loss	Turner syndrome	GPathogenic
Select item 1703579	GRCh37/hg19 Xp22.33-q28(chrX:1-155270560)	AKAP14, CT47A11 +819 more	Copy number gain	Hypotonia +2 more	GPathogenic
Select item 1526799	GRCh37/hg19 Xp11.22-11.21(chrX:52881435-55684871)	ALAS2, APEX2 +33 more	Copy number gain	not specified	GLikely pathogenic
Select item 1341233	GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1	RADX, RAI2 +818 more	Copy number loss	not provided	GPathogenic
Select item 1341223	GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x3	GPM6B, KLHL15 +818 more	Copy number gain	not provided	GPathogenic
Select item 1340693	GRCh37/hg19 Xp11.22-11.21(chrX:52901458-55684871)x2	ALAS2, APEX2 +32 more	Copy number gain	not provided	GPathogenic
Select item 1206119	NM_001039705.3(TRO):c.3139G>A (p.Val1047Ile)	TRO (V1047I +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1180551	GRCh37/hg19 Xp22.33-q28(chrX:60000-155234966)x1	KLHL34, KLHL4 +818 more	Copy number loss	not provided	GPathogenic
Select item 992647	GRCh37/hg19 Xp22.33-11.21(chrX:168546-56457794)x1	ACE2, ACOT9 +309 more	Copy number loss	not provided	GPathogenic
Select item 983193	GRCh37/hg19 Xp22.33-11.21(chrX:219609-55466476)x1	ACE2, ACOT9 +304 more	Copy number loss	See cases	GPathogenic
Select item 816270	GRCh37/hg19 Xp22.33-11.21(chrX:539722-55509385)x1	ACE2, ACOT9 +305 more	Copy number loss	not provided	GPathogenic
Select item 719292	NM_001039705.3(TRO):c.3345C>T (p.Thr1115=)	TRO	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 694513	46,Y,inv(X)(p21.1q13.3)	ABCB7, AKAP4 +268 more	Inversion	Elevated circulating creatine kinase concentration	GLikely pathogenic
Select item 688137	GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1	ARHGAP36, ARHGAP4 +818 more	Copy number loss	not provided	GPathogenic
Select item 687519	GRCh37/hg19 Xp11.21-q28(chrX:54941868-155233731)x1	AWAT1, AWAT2 +524 more	Copy number loss	not provided	GUncertain significance
Select item 685565	GRCh37/hg19 Xp22.33-q11.1(chrX:168546-61877279)x1	RBBP7, RBM10 +316 more	Copy number loss	not provided	GPathogenic
Select item 685331	GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x4	BEX1, BEX2 +818 more	Copy number gain	not provided	GPathogenic

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