ClinVar for Gene (Select 60401) - ClinVar - NCBI

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

Links from Gene

Items: 1 to 100 of 184

<< First< Prev

Page of 2

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3381213	NM_021783.5(EDA2R):c.620del (p.Asn207fs)	EDA2R (N175fs +4 more)	Deletion (frameshift variant +2 more)	Partial congenital absence of teeth	GLikely pathogenic
Select item 3366901	NC_000023.10:g.(?_54610638)_(154689386_?)dup	ABCB7, ABCD1 +526 more	Duplication	Hereditary factor VIII deficiency disease	GUncertain significance
Select item 3246916	NC_000023.10:g.(?_63409759)_(71933728_?)dup	AMER1, AR +55 more	Duplication	not provided	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 3087119	NM_021783.5(EDA2R):c.823G>C (p.Gly275Arg)	EDA2R (G243R +4 more)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 3087118	NM_021783.5(EDA2R):c.728G>A (p.Ser243Asn)	EDA2R (S211N +4 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3087117	NM_021783.5(EDA2R):c.685C>T (p.Pro229Ser)	EDA2R (P229S +4 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3087116	NM_021783.5(EDA2R):c.602A>G (p.Glu201Gly)	EDA2R (E169G +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3087115	NM_021783.5(EDA2R):c.44G>A (p.Cys15Tyr)	EDA2R (C15Y +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3087114	NM_021783.5(EDA2R):c.134C>T (p.Pro45Leu)	EDA2R (L40F +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3062482	GRCh37/hg19 Xq11.1-21.1(chrX:61877278-79122848)	ABCB7, AMER1 +92 more	Copy number gain	not specified	GPathogenic
Select item 2663780	NC_000023.11:g.(?_66445907)_(78172208_?)dup	ABCB7, AR +206 more	Duplication	Xq13q21 duplication	GPathogenic
Select item 2660767	NM_021783.5(EDA2R):c.*97A>T	EDA2R	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GLikely benign
Select item 2619980	NM_021783.5(EDA2R):c.232A>C (p.Thr78Pro)	EDA2R (T78P)	Single nucleotide variant (missense variant +3 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 2494377	NM_021783.5(EDA2R):c.478C>T (p.Leu160Phe)	EDA2R (L126F +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2475304	NM_021783.5(EDA2R):c.823G>A (p.Gly275Arg)	EDA2R (G243R +4 more)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 2474991	NM_021783.5(EDA2R):c.574G>A (p.Val192Met)	EDA2R (V160M +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2408177	NM_021783.5(EDA2R):c.713C>A (p.Ser238Tyr)	EDA2R (S238Y +4 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2404532	NM_021783.5(EDA2R):c.283C>T (p.Arg95Cys)	EDA2R (R95C)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2361498	NM_021783.5(EDA2R):c.640C>T (p.Leu214Phe)	EDA2R (L90F +4 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2358184	NM_021783.5(EDA2R):c.823G>T (p.Gly275Trp)	EDA2R (G151W +4 more)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2341285	NM_021783.5(EDA2R):c.59G>A (p.Arg20Gln)	EDA2R (G15S +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 2311786	NM_021783.5(EDA2R):c.824G>A (p.Gly275Glu)	EDA2R (G296E +4 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2266329	NM_021783.5(EDA2R):c.275G>A (p.Arg92Gln)	EDA2R (R92Q)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 2259093	NM_021783.5(EDA2R):c.605C>T (p.Ser202Phe)	EDA2R (S170F +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1808042	GRCh37/hg19 Xq12(chrX:65390324-66050320)x2	EDA2R, HEPH	Copy number gain	not provided	GUncertain significance
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 1703584	GRCh37/hg19 Xq11.1-28(chrX:62685885-155233731)	ABCB7, ABCD1 +501 more	Copy number loss	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 1526808	GRCh37/hg19 Xq12-13.1(chrX:65734663-68081523)	AR, EDA2R +4 more	Copy number loss	not specified	GPathogenic
Select item 1526806	GRCh37/hg19 Xq12(chrX:65057519-66020568)	EDA2R, HEPH +2 more	Copy number gain	not specified	GUncertain significance
Select item 1526804	GRCh37/hg19 Xq11.1-21.1(chrX:61974855-79123671)	AWAT1, AWAT2 +92 more	Copy number gain	not specified	GPathogenic
Select item 1526803	GRCh37/hg19 Xq11.1-21.1(chrX:61877278-79123671)	NALF2, NAP1L2 +92 more	Copy number gain	not specified	GPathogenic
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 1340689	GRCh37/hg19 Xq12(chrX:65734663-65943963)x3	EDA2R	Copy number gain	not provided	GLikely benign
Select item 1340082	GRCh37/hg19 Xq12(chrX:65699710-66031097)x0	EDA2R	Copy number loss	not provided	GUncertain significance
Select item 1180551	GRCh37/hg19 Xp22.33-q28(chrX:60000-155234966)x1	KLHL34, KLHL4 +818 more	Copy number loss	not provided	GPathogenic
Select item 992648	GRCh37/hg19 Xp11.21-q28(chrX:56469080-155233731)x3	CPXCR1, GABRE +509 more	Copy number gain	not provided	GPathogenic
Select item 983156	GRCh37/hg19 Xp11.21-q28(chrX:55507789-155198481)x3	ARMCX4, CXorf51B +513 more	Copy number gain	See cases	GPathogenic
Select item 979824	GRCh37/hg19 Xq12(chrX:65255929-65894285)x3	EDA2R, VSIG4 +1 more	Copy number gain	not provided	GLikely benign
Select item 979823	GRCh37/hg19 Xq12(chrX:65734663-66698653)x3	EDA2R	Copy number gain	not provided	GLikely benign
Select item 777793	NM_021783.5(EDA2R):c.79C>T (p.Leu27=)	EDA2R (A16V)	Single nucleotide variant (synonymous variant +2 more)	not provided	GBenign
Select item 770018	NM_021783.5(EDA2R):c.385= (p.Thr129=)	EDA2R (A129T)	Variation (no sequence alteration +2 more)	not provided	GBenign
Select item 769181	NM_021783.5(EDA2R):c.22T>C (p.Tyr8His)	EDA2R (Y8H)	Single nucleotide variant (missense variant +3 more)	not provided	GBenign
Select item 752352	NM_021783.5(EDA2R):c.726G>A (p.Glu242=)	EDA2R	Single nucleotide variant (synonymous variant +2 more)	not provided	GBenign
Select item 733938	NM_021783.5(EDA2R):c.378G>A (p.Glu126=)	EDA2R (G33S)	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 724005	NM_021783.5(EDA2R):c.660C>T (p.Asp220=)	EDA2R	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 718792	NM_021783.5(EDA2R):c.334C>T (p.Pro112Ser)	EDA2R (P112S)	Single nucleotide variant (missense variant +2 more)	not provided	GLikely benign
Select item 709200	NM_021783.5(EDA2R):c.135T>A (p.Pro45=)	EDA2R (L40H)	Single nucleotide variant (synonymous variant +3 more)	not provided	GLikely benign
Select item 694513	46,Y,inv(X)(p21.1q13.3)	ABCB7, AKAP4 +268 more	Inversion	Elevated circulating creatine kinase concentration	GLikely pathogenic
Select item 689337	GRCh37/hg19 Xq12(chrX:65597135-65836640)x1	EDA2R	Copy number loss	not provided	GUncertain significance
Select item 689241	GRCh37/hg19 Xq11.1-13.1(chrX:61882086-69173640)x1	AMER1, AR +19 more	Copy number loss	not provided	GPathogenic
Select item 688137	GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1	ARHGAP36, ARHGAP4 +818 more	Copy number loss	not provided	GPathogenic
Select item 687828	GRCh37/hg19 Xq12(chrX:65605983-65853863)x1	EDA2R	Copy number loss	not provided	GUncertain significance
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 685887	GRCh37/hg19 Xq12(chrX:65768300-65937194)x3	EDA2R	Copy number gain	not provided	GUncertain significance
Select item 685566	GRCh37/hg19 Xp11.1-q28(chrX:58455352-155233731)x1	AWAT2, BCAP31 +502 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
Select item 684962	GRCh37/hg19 Xp11.4-q21.32(chrX:40572613-92796528)x1	ABCB7, AKAP4 +281 more	Copy number loss	not provided	GPathogenic
Select item 684920	GRCh37/hg19 Xq12(chrX:65766523-65931826)x2	EDA2R	Copy number gain	not provided	GUncertain significance
Select item 684886	GRCh37/hg19 Xq12(chrX:65695229-66037575)x1	EDA2R	Copy number loss	not provided	GUncertain significance
Select item 626291	Single allele	AKAP14, CCDC22 +733 more	Duplication	Syndromic X-linked intellectual disability Lubs type	GPathogenic
Select item 564852	GRCh37/hg19 Xq12(chrX:65742087-65952960)x3	EDA2R	Copy number gain	not provided	GLikely benign
Select item 564851	GRCh37/hg19 Xq12(chrX:65461088-66523361)x2	HEPH, EDA2R	Copy number gain	not provided	GLikely benign
Select item 564772	GRCh37/hg19 Xp22.31-q21.31(chrX:7841947-90815333)x1,2	RPS6KA6, UPRT +413 more	Copy number gain	not provided	GPathogenic
Select item 560104	Single allele	AR, EDA2R	Duplication	not provided	GUncertain significance
Select item 545551	NC_000023.10:g.36649710_136649711del100000002insG	AMER1, AMMECR1 +541 more	Indel	Heterotaxy, visceral, 1, X-linked	GPathogenic
Select item 488014	Single allele	ARSF, CFAP47 +2632 more	Duplication	Autism +1 more	GPathogenic
Select item 452543	NM_021783.5(EDA2R):c.329A>C (p.Gln110Pro)	EDA2R (Q110P)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 443974	GRCh37/hg19 Xp22.33-q28(chrX:168547-155233731)	ABCB7, ABCD1 +818 more	Copy number gain	See cases	GPathogenic
Select item 443946	GRCh37/hg19 Xp22.33-q23(chrX:168547-112474026)x1	EIF1AX, EIF2S3 +539 more	Copy number loss	See cases	GPathogenic
Select item 443736	GRCh37/hg19 Xq12(chrX:65652308-66075182)x1	EDA2R	Copy number loss	See cases	GUncertain significance
Select item 443504	GRCh37/hg19 Xp21.2-q28(chrX:31088082-155233731)x1	PNMA5, PNMA6A +695 more	Copy number loss	See cases	GPathogenic
Select item 443017	GRCh37/hg19 Xp11.21-q28(chrX:56457791-155233731)x3	NAA10, NALF2 +509 more	Copy number gain	See cases	GPathogenic
Select item 442832	GRCh37/hg19 Xp21.1-q22.1(chrX:37521774-98488534)x1	ABCB7, AKAP4 +300 more	Copy number loss	See cases	GPathogenic
Select item 442724	GRCh37/hg19 Xp22.33-q28(chrX:168547-151304063)x1	AP1S2, APEX2 +731 more	Copy number loss	See cases	GPathogenic
Select item 442646	GRCh37/hg19 Xp11.21-q28(chrX:57415659-155233731)x3	OR13H1, OTUD6A +505 more	Copy number gain	See cases	GPathogenic
Select item 442615	GRCh37/hg19 Xq12(chrX:65590188-66268526)x3	EDA2R	Copy number gain	See cases	GUncertain significance
Select item 442531	GRCh37/hg19 Xp11.21-q28(chrX:55000501-155230750)x3	ABCB7, ABCD1 +523 more	Copy number gain	See cases	GPathogenic
Select item 442354	GRCh37/hg19 Xp22.33-q13.3(chrX:168546-74549686)	ABCB7, ACE2 +390 more	Copy number loss	See cases	GPathogenic
Select item 442321	GRCh37/hg19 Xp11.21-q28(chrX:57511767-155233731)x3	YIPF6, ZBTB33 +505 more	Copy number gain	See cases	GPathogenic
Select item 442018	GRCh37/hg19 Xp11.21-q21.1(chrX:55240087-78225374)x1	ABCB7, AMER1 +104 more	Copy number loss	See cases	GPathogenic
Select item 441974	GRCh37/hg19 Xq12(chrX:65699710-66037575)x1	EDA2R	Copy number loss	See cases	GUncertain significance
Select item 425520	GRCh37/hg19 Xp22.2-q25(chrX:11692290-121187337)x2	BEX4, BEX5 +566 more	Copy number gain	not provided	GUncertain significance
Select item 395718	GRCh37/hg19 Xp22.33-q28(chrX:70297-155246585)x1	TMLHE, TMSB15A +819 more	Copy number loss	See cases	GPathogenic
Select item 395687	GRCh37/hg19 Xp22.33-q28(chrX:70297-155255792)	ABCB7, ABCD1 +819 more	Copy number loss	See cases	GPathogenic
Select item 395686	GRCh37/hg19 Xp22.33-q28(chrX:70297-155255792)x4	BEX1, BEX2 +819 more	Copy number gain	See cases	GPathogenic
Select item 394706	GRCh37/hg19 Xp22.33-q28(chrX:60701-155246225)x3	ABCB7, ABCD1 +819 more	Copy number gain	See cases	GPathogenic
Select item 394672	GRCh37/hg19 Xp22.33-q28(chrX:318707-155224707)x1	ABCB7, ADGRG2 +818 more	Copy number loss	See cases	GPathogenic
Select item 394013	GRCh37/hg19 Xp22.33-q28(chrX:71267-155255792)x1	ABCB7, ABCD1 +819 more	Copy number loss	See cases	GPathogenic
Select item 254018	GRCh37/hg19 Xq12(chrX:65813415-66955639)x2	EDA2R, AR	Copy number gain	See cases	GUncertain significance
Select item 253954	GRCh37/hg19 Xq12-13.1(chrX:64927267-69276852)x3	EDA, STARD8 +12 more	Copy number gain	See cases	GUncertain significance
Select item 253725	GRCh37/hg19 Xq12(chrX:65813415-65987187)x0	EDA2R	Copy number loss	See cases	GUncertain significance
Select item 253652	GRCh37/hg19 Xp22.33-q28(chrX:71267-155246643)x3	ABCB7, ABCD1 +819 more	Copy number gain	See cases	GPathogenic
Select item 253624	GRCh37/hg19 Xp22.33-q28(chrX:60701-155246271)x3	TMEM255A, TMEM31 +819 more	Copy number gain	See cases	GPathogenic
Select item 253616	GRCh37/hg19 Xq11.1-28(chrX:62063537-155246643)x3	ABCB7, ABCD1 +503 more	Copy number gain	See cases	GPathogenic

<< First< Prev

Page of 2