ClinVar for Gene (Select 54954) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 2685708	GRCh37/hg19 Xp21.1-11.22(chrX:36355238-54106257)x1	CCDC22, CFP +155 more	Copy number loss	not provided	GPathogenic
Select item 2685088	GRCh37/hg19 Xp11.22(chrX:53954419-54291347)x0	FAM120C, PHF8 +1 more	Copy number loss	not provided	GPathogenic
Select item 2684987	GRCh37/hg19 Xp11.22(chrX:53898297-54448265)x3	FAM120C, PHF8 +1 more	Copy number gain	not provided	GUncertain significance
Select item 2671606	Single allele	FAM120C, FGD1 +4 more	Duplication	not provided	GUncertain significance
Select item 2660656	NM_017848.6(FAM120C):c.330C>G (p.Pro110=)	FAM120C, LOC130068321	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2660655	NM_017848.6(FAM120C):c.699+8363A>G	FAM120C (M237V)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2660654	NM_017848.6(FAM120C):c.2016G>A (p.Gln672=)	FAM120C	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2660653	NM_017848.6(FAM120C):c.2130G>A (p.Val710=)	FAM120C	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2660652	NM_017848.6(FAM120C):c.2727G>A (p.Pro909=)	FAM120C	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2624175	NM_017848.6(FAM120C):c.2035G>A (p.Ala679Thr)	FAM120C (A679T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2619872	NM_017848.6(FAM120C):c.3128A>G (p.Glu1043Gly)	FAM120C (E1043G)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2558294	NM_017848.6(FAM120C):c.278A>G (p.His93Arg)	FAM120C, LOC130068321 (H93R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2556237	NM_017848.6(FAM120C):c.2863G>C (p.Gly955Arg)	FAM120C (G955R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2549500	NM_017848.6(FAM120C):c.2156C>T (p.Thr719Ile)	FAM120C (T719I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2506546	GRCh37/hg19 Xp22.33-q28(chrX:200855-155240074)	BMX, CXorf38 +821 more	Copy number gain	Klinefelter syndrome	GPathogenic
Select item 2493308	NM_017848.6(FAM120C):c.2912G>A (p.Ser971Asn)	FAM120C (A834T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2488839	NM_017848.6(FAM120C):c.2695A>G (p.Met899Val)	FAM120C (M899V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2486361	NM_017848.6(FAM120C):c.2093C>T (p.Ala698Val)	FAM120C (A698V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2458452	NM_017848.6(FAM120C):c.176G>T (p.Gly59Val)	FAM120C (G59V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 2337674	NM_017848.6(FAM120C):c.2927G>T (p.Gly976Val)	FAM120C (A839S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2323683	NM_017848.6(FAM120C):c.1039C>A (p.His347Asn)	FAM120C (H347N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2316237	NM_017848.6(FAM120C):c.2208C>G (p.Asn736Lys)	FAM120C (N736K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2286925	NM_017848.6(FAM120C):c.916A>G (p.Met306Val)	FAM120C (M306V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2281027	NM_017848.6(FAM120C):c.181G>A (p.Val61Met)	FAM120C (V61M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2277851	NM_017848.6(FAM120C):c.1219A>G (p.Thr407Ala)	FAM120C (T407A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2269901	NM_017848.6(FAM120C):c.118C>T (p.His40Tyr)	FAM120C (H40Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2234189	NM_017848.6(FAM120C):c.1114T>A (p.Ser372Thr)	FAM120C (S372T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2222009	NM_017848.6(FAM120C):c.3080G>A (p.Gly1027Asp)	FAM120C (V890I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1809375	GRCh37/hg19 Xp11.22(chrX:54184241-54786514)x3	FAM120C, FGD1 +4 more	Copy number gain	not provided	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	MIR224, MIR424 +793 more	Copy number loss	See cases	GPathogenic
Select item 1704345	GRCh37/hg19 Xp22.33-q28(chrX:61545-155226048)x2	CT55, CT83 +821 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 +822 more	Copy number loss	Turner syndrome	GPathogenic
Select item 1703579	GRCh37/hg19 Xp22.33-q28(chrX:1-155270560)	SCML2, SEPTIN6 +822 more	Copy number gain	Hypotonia +2 more	GPathogenic
Select item 1526801	GRCh37/hg19 Xp11.22(chrX:53797930-54608609)	FAM120C, FGD1 +4 more	Copy number gain	not specified	GLikely pathogenic
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 1411202	NC_000023.10:g.(?_53222149)_(54497940_?)dup	FAM120C, FGD1 +11 more	Duplication	not provided	GUncertain significance
Select item 1341233	GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1	CXorf51B, GAGE12H +821 more	Copy number loss	not provided	GPathogenic
Select item 1341223	GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x3	ABCB7, ABCD1 +821 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 1330452	NM_017848.6(FAM120C):c.2850A>G (p.Pro950=)	FAM120C (Q813R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1180551	GRCh37/hg19 Xp22.33-q28(chrX:60000-155234966)x1	CXorf49B, CXorf51A +821 more	Copy number loss	not provided	GPathogenic
Select item 1180517	GRCh37/hg19 Xp11.23-11.22(chrX:47179068-54424785)x2	FAM156B, FOXP3 +109 more	Copy number gain	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 931516	NM_017848.6(FAM120C):c.2427+5G>T	FAM120C	Single nucleotide variant (intron variant)	not provided	GBenign
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 807729	NM_017848.6(FAM120C):c.1336-6G>A	FAM120C	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 807728	NM_017848.6(FAM120C):c.1715C>T (p.Ala572Val)	FAM120C (A572V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 734080	NM_017848.6(FAM120C):c.1983A>G (p.Val661=)	FAM120C	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 694513	46,Y,inv(X)(p21.1q13.3)	ABCB7, AKAP4 +270 more	Inversion	Elevated circulating creatine kinase concentration	GLikely pathogenic
Select item 688137	GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1	RBMXL3, RENBP +821 more	Copy number loss	not provided	GPathogenic
Select item 685963	GRCh37/hg19 Xp11.22(chrX:54113305-54246572)x2	FAM120C, WNK3	Copy number gain	not provided	GUncertain significance
Select item 685927	GRCh37/hg19 Xp11.22(chrX:53384424-54103704)x2	FAM120C, HSD17B10 +6 more	Copy number gain	not provided	GPathogenic
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	ZNF275, ZNF280C +821 more	Copy number gain	not provided	GPathogenic
Select item 684962	GRCh37/hg19 Xp11.4-q21.32(chrX:40572613-92796528)x1	ITGB1BP2, RGN +281 more	Copy number loss	not provided	GPathogenic
Select item 626291	Single allele	PAGE2B, PAGE3 +733 more	Duplication	Syndromic X-linked intellectual disability Lubs type	GPathogenic
Select item 564845	GRCh37/hg19 Xp11.22(chrX:53372728-54106257)x2	RIBC1, HUWE1 +6 more	Copy number gain	not provided	GPathogenic
Select item 564772	GRCh37/hg19 Xp22.31-q21.31(chrX:7841947-90815333)x1,2	ABCB7, ACE2 +415 more	Copy number gain	not provided	GPathogenic
Select item 545551	NC_000023.10:g.36649710_136649711del100000002insG	ADGRG4, ACTRT1 +541 more	Indel	Heterotaxy, visceral, 1, X-linked	GPathogenic
Select item 488014	Single allele	ARMCX3, CT47A11 +2631 more	Duplication	Autism +1 more	GPathogenic
Select item 443974	GRCh37/hg19 Xp22.33-q28(chrX:168547-155233731)	ABCB7, ABCD1 +821 more	Copy number gain	See cases	GPathogenic
Select item 443946	GRCh37/hg19 Xp22.33-q23(chrX:168547-112474026)x1	BEX5, BMP15 +541 more	Copy number loss	See cases	GPathogenic
Select item 443504	GRCh37/hg19 Xp21.2-q28(chrX:31088082-155233731)x1	ZCCHC12, ZCCHC13 +698 more	Copy number loss	See cases	GPathogenic
Select item 443322	GRCh37/hg19 Xp22.33-11.1(chrX:168546-58527164)x1	ACE2, ACOT9 +316 more	Copy number loss	See cases	GPathogenic
Select item 443028	GRCh37/hg19 Xp22.33-11.21(chrX:168546-54996659)x1	TCEANC, TFE3 +296 more	Copy number loss	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	MAGEE1, MAGEE2 +733 more	Copy number loss	See cases	GPathogenic
Select item 442354	GRCh37/hg19 Xp22.33-q13.3(chrX:168546-74549686)	ABCB7, ACE2 +392 more	Copy number loss	See cases	GPathogenic
Select item 442162	GRCh37/hg19 Xp22.33-11.21(chrX:168546-55240087)x1	ACE2, ACOT9 +302 more	Copy number loss	See cases	GPathogenic
Select item 442067	GRCh37/hg19 Xp22.33-11.21(chrX:168546-57504183)x1	ACE2, ACOT9 +314 more	Copy number loss	See cases	GPathogenic
Select item 441968	GRCh37/hg19 Xp22.33-11.21(chrX:168564-57413442)x1	ACE2, ACOT9 +314 more	Copy number loss	See cases	GPathogenic
Select item 441856	GRCh37/hg19 Xp22.33-11.21(chrX:168546-57683964)x1	JADE3, KCND1 +315 more	Copy number loss	See cases	GPathogenic
Select item 425520	GRCh37/hg19 Xp22.2-q25(chrX:11692290-121187337)x2	AWAT2, BCLAF3 +568 more	Copy number gain	not provided	GUncertain significance
Select item 395718	GRCh37/hg19 Xp22.33-q28(chrX:70297-155246585)x1	ABCB7, ABCD1 +822 more	Copy number loss	See cases	GPathogenic
Select item 395687	GRCh37/hg19 Xp22.33-q28(chrX:70297-155255792)	ABCB7, ABCD1 +822 more	Copy number loss	See cases	GPathogenic
Select item 395686	GRCh37/hg19 Xp22.33-q28(chrX:70297-155255792)x4	ABCB7, ABCD1 +822 more	Copy number gain	See cases	GPathogenic
Select item 394706	GRCh37/hg19 Xp22.33-q28(chrX:60701-155246225)x3	ABCB7, ABCD1 +822 more	Copy number gain	See cases	GPathogenic
Select item 394672	GRCh37/hg19 Xp22.33-q28(chrX:318707-155224707)x1	EIF2S3, ELF4 +821 more	Copy number loss	See cases	GPathogenic
Select item 394013	GRCh37/hg19 Xp22.33-q28(chrX:71267-155255792)x1	MAGEB17, MAGEB18 +822 more	Copy number loss	See cases	GPathogenic
Select item 253652	GRCh37/hg19 Xp22.33-q28(chrX:71267-155246643)x3	ABCB7, ABCD1 +822 more	Copy number gain	See cases	GPathogenic
Select item 253624	GRCh37/hg19 Xp22.33-q28(chrX:60701-155246271)x3	GAGE12F, GAGE12G +822 more	Copy number gain	See cases	GPathogenic
Select item 253615	GRCh37/hg19 Xp22.33-11.21(chrX:70297-58066465)x3	ACE2, ACOT9 +316 more	Copy number gain	See cases	GPathogenic
Select item 253613	GRCh37/hg19 Xp22.2-q28(chrX:13147668-155250222)x3	FOXP3, FOXR2 +786 more	Copy number gain	See cases	GPathogenic
Select item 253602	GRCh37/hg19 Xp22.33-q28(chrX:176426-155236656)x3	MCTS1, MECP2 +821 more	Copy number gain	See cases	GPathogenic
Select item 253583	GRCh37/hg19 Xp22.33-q28(chrX:225816-155234036)x2	ABCB7, ABCD1 +821 more	Copy number gain	See cases	GPathogenic
Select item 253571	GRCh37/hg19 Xp22.33-11.21(chrX:70297-58066465)x1	ACE2, ACOT9 +316 more	Copy number loss	See cases	GPathogenic
Select item 253495	GRCh37/hg19 Xp22.33-q28(chrX:71267-155224766)x1	ABCB7, ABCD1 +821 more	Copy number loss	See cases	GPathogenic
Select item 253492	GRCh37/hg19 Xp22.33-q28(chrX:71267-155255839)x1	EOLA2, ERAS +822 more	Copy number loss	See cases	GPathogenic
Select item 253487	GRCh37/hg19 Xp22.33-q28(chrX:2707626-155250222)x2	ABCB7, ABCD1 +822 more	Copy number gain	See cases	GPathogenic
Select item 253458	GRCh37/hg19 Xp22.33-q28(chrX:150002-155234036)x2	RENBP, REPS2 +821 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

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