ClinVar for Gene (Select 340554) - 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 3334028	NM_001010888.4(ZC3H12B):c.310T>G (p.Leu104Val)	ZC3H12B (L104V)	Single nucleotide variant (missense variant)	not specified	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 3192268	NM_001010888.4(ZC3H12B):c.2147G>A (p.Arg716Lys)	ZC3H12B (R716K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3192267	NM_001010888.4(ZC3H12B):c.1925A>G (p.Tyr642Cys)	ZC3H12B (Y642C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3192266	NM_001010888.4(ZC3H12B):c.1834G>A (p.Gly612Ser)	ZC3H12B (G612S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3192265	NM_001010888.4(ZC3H12B):c.1606A>C (p.Lys536Gln)	ZC3H12B (K536Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3192264	NM_001010888.4(ZC3H12B):c.1422C>G (p.Ile474Met)	ZC3H12B (I474M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3192263	NM_001010888.4(ZC3H12B):c.1376C>T (p.Ala459Val)	ZC3H12B (A459V)	Single nucleotide variant (missense variant)	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 2660756	NM_001010888.4(ZC3H12B):c.2421C>T (p.Ile807=)	ZC3H12B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2660755	NM_001010888.4(ZC3H12B):c.2154A>G (p.Arg718=)	ZC3H12B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2608162	NM_001010888.4(ZC3H12B):c.1870C>G (p.Arg624Gly)	ZC3H12B (R624G)	Single nucleotide variant (missense variant)	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 2482402	NM_001010888.4(ZC3H12B):c.2119T>C (p.Ser707Pro)	ZC3H12B (S707P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2478957	NM_001010888.4(ZC3H12B):c.190G>A (p.Asp64Asn)	ZC3H12B (D64N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2374595	NM_001010888.4(ZC3H12B):c.2337G>A (p.Met779Ile)	ZC3H12B (M779I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2342604	NM_001010888.4(ZC3H12B):c.1756C>T (p.Arg586Cys)	ZC3H12B (R586C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2340700	NM_001010888.4(ZC3H12B):c.1933G>A (p.Glu645Lys)	ZC3H12B (E645K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2333140	NM_001010888.4(ZC3H12B):c.190G>T (p.Asp64Tyr)	ZC3H12B (D64Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2330653	NM_001010888.4(ZC3H12B):c.119T>C (p.Met40Thr)	ZC3H12B (M40T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2327746	NM_001010888.4(ZC3H12B):c.2216C>T (p.Ser739Phe)	ZC3H12B (S739F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2268357	NM_001010888.4(ZC3H12B):c.1885C>T (p.Pro629Ser)	ZC3H12B (P629S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2267465	NM_001010888.4(ZC3H12B):c.227C>T (p.Pro76Leu)	ZC3H12B (P76L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2253865	NM_001010888.4(ZC3H12B):c.1430C>T (p.Pro477Leu)	ZC3H12B (P477L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2238639	NM_001010888.4(ZC3H12B):c.58G>A (p.Glu20Lys)	ZC3H12B (E20K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2219355	NM_001010888.4(ZC3H12B):c.1730G>A (p.Arg577Gln)	ZC3H12B (R577Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2204191	NM_001010888.4(ZC3H12B):c.263G>A (p.Arg88His)	ZC3H12B (R88H)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2060691	NM_001010888.4(ZC3H12B):c.152T>C (p.Leu51Pro)	ZC3H12B (L51P)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1809191	GRCh37/hg19 Xq11.2-12(chrX:64490318-64853602)x2	LAS1L, ZC3H12B	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 1679798	Single allele	LAS1L, LOC113875034 +2 more	Duplication	Wilson-Turner syndrome	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 1340104	GRCh37/hg19 Xq11.2-12(chrX:64348107-65038267)x2	LAS1L, MSN +1 more	Copy number gain	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 978034	NC_000023.11:g.64951692_65166933del	LOC130068372, LOC130068373 +3 more	Deletion	Wieacker-Wolff syndrome, female-restricted	GPathogenic
Select item 816355	GRCh37/hg19 Xq11.2-12(chrX:64325329-64772747)x2	LAS1L, ZC3H12B	Copy number gain	not provided	GUncertain significance
Select item 816354	GRCh37/hg19 Xq11.2-12(chrX:63997723-64725677)x2	ZC4H2, ZC3H12B	Copy number gain	not provided	GUncertain significance
Select item 719851	NM_001010888.4(ZC3H12B):c.326A>G (p.Gln109Arg)	ZC3H12B (Q109R)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 718702	NM_001010888.4(ZC3H12B):c.1392G>A (p.Ser464=)	ZC3H12B	Single nucleotide variant (synonymous variant)	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 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 687519	GRCh37/hg19 Xp11.21-q28(chrX:54941868-155233731)x1	AWAT1, AWAT2 +524 more	Copy number loss	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 626291	Single allele	AKAP14, CCDC22 +733 more	Duplication	Syndromic X-linked intellectual disability Lubs type	GPathogenic
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 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 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 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 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 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 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
Select item 253613	GRCh37/hg19 Xp22.2-q28(chrX:13147668-155250222)x3	ABCB7, ABCD1 +783 more	Copy number gain	See cases	GPathogenic
Select item 253602	GRCh37/hg19 Xp22.33-q28(chrX:176426-155236656)x3	ABCB7, ABCD1 +818 more	Copy number gain	See cases	GPathogenic
Select item 253583	GRCh37/hg19 Xp22.33-q28(chrX:225816-155234036)x2	PNMA3, PLP1 +818 more	Copy number gain	See cases	GPathogenic
Select item 253572	GRCh37/hg19 Xq11.1-28(chrX:62063537-155250222)x3	ABCB7, ABCD1 +503 more	Copy number gain	See cases	GPathogenic
Select item 253495	GRCh37/hg19 Xp22.33-q28(chrX:71267-155224766)x1	MAGEB4, MAGEB5 +818 more	Copy number loss	See cases	GPathogenic
Select item 253492	GRCh37/hg19 Xp22.33-q28(chrX:71267-155255839)x1	ABCB7, ABCD1 +819 more	Copy number loss	See cases	GPathogenic
Select item 253487	GRCh37/hg19 Xp22.33-q28(chrX:2707626-155250222)x2	RPS6KA3, RPS6KA6 +819 more	Copy number gain	See cases	GPathogenic
Select item 253458	GRCh37/hg19 Xp22.33-q28(chrX:150002-155234036)x2	ABCB7, ABCD1 +818 more	Copy number gain	See cases	GPathogenic
Select item 253446	GRCh37/hg19 Xp11.22-q12(chrX:53085607-67176333)x2	PAGE5, ASB12 +53 more	Copy number gain	See cases	GPathogenic
Select item 253438	GRCh37/hg19 Xp22.33-q28(chrX:176426-155250222)x3	RRAGB, RS1 +819 more	Copy number gain	See cases	GPathogenic
Select item 253436	GRCh37/hg19 Xp11.3-q21.1(chrX:44734936-79676121)x3	ABCB7, AKAP4 +250 more	Copy number gain	See cases	GPathogenic
Select item 253432	GRCh37/hg19 Xp22.33-q28(chrX:150002-155234036)x3	ARL13A, ARMCX1 +818 more	Copy number gain	See cases	GPathogenic
Select item 253389	GRCh37/hg19 Xp22.33-q28(chrX:71267-155234036)x2	HDAC6, HTATSF1 +818 more	Copy number gain	See cases	GPathogenic
Select item 253376	GRCh37/hg19 Xp22.33-q28(chrX:70297-155255839)x3	ABCB7, ABCD1 +819 more	Copy number gain	See cases	GPathogenic
Select item 161091	GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x3	ABCB7, ABCD1 +2632 more	Copy number gain	See cases	GPathogenic
Select item 161089	GRCh38/hg38 Xp22.33-q28(chrX:14245-155999293)x1	ABCB7, ABCD1 +2633 more	Copy number loss	See cases	GPathogenic
Select item 161088	GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x1	VAMP7, VBP1 +2632 more	Copy number loss	See cases	GPathogenic
Select item 160983	GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x1	LOC130067918, LOC130067919 +2633 more	Copy number loss	See cases	GPathogenic

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