ClinVar for Gene (Select 404281) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3376485	GRCh38/hg38 Xp22.12-22.11(chrX:21743750-22114586)x3	LOC125446275, LOC130068038 +9 more	Copy number gain	Familial X-linked hypophosphatemic vitamin D refractory rickets	GPathogenic
Select item 3333764	NM_206923.4(YY2):c.127G>A (p.Glu43Lys)	MBTPS2, YY2 (E43K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3333763	NM_206923.4(YY2):c.504G>C (p.Lys168Asn)	MBTPS2, YY2 (K168N)	Single nucleotide variant (missense variant +1 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 3191702	NM_206923.4(YY2):c.312G>T (p.Gln104His)	MBTPS2, YY2 (Q104H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3191701	NM_206923.4(YY2):c.118G>A (p.Val40Ile)	MBTPS2, YY2 (V40I)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3191700	NM_206923.4(YY2):c.1105A>C (p.Lys369Gln)	MBTPS2, YY2 (K369Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
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 2685727	GRCh37/hg19 Xp22.33-21.2(chrX:168547-30774453)x2	ACE2, ACOT9 +120 more	Copy number gain	not provided	GPathogenic
Select item 2685690	GRCh37/hg19 Xp22.33-11.22(chrX:2696762-53113314)x1	HDAC6, RGN +275 more	Copy number loss	not provided	GPathogenic
Select item 2684971	GRCh37/hg19 Xp22.13-22.11(chrX:18411391-22528403)x3	ADGRG2, BCLAF3 +18 more	Copy number gain	not provided	GUncertain significance
Select item 2660153	NM_206923.4(YY2):c.867C>T (p.Gly289=)	YY2, MBTPS2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2582521	NM_015884.4(MBTPS2):c.670+2688G>C	MBTPS2, YY2	Single nucleotide variant (5 prime UTR variant +1 more)	IFAP syndrome 1, with or without BRESHECK syndrome +3 more	GUncertain significance
Select item 2558245	NM_206923.4(YY2):c.743G>A (p.Gly248Glu)	MBTPS2, YY2 (G248E)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2543455	NM_206923.4(YY2):c.439G>A (p.Gly147Ser)	MBTPS2, YY2 (G147S)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2513210	NM_206923.4(YY2):c.68A>G (p.His23Arg)	MBTPS2, YY2 (H23R)	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 2492207	NM_206923.4(YY2):c.553G>A (p.Val185Met)	MBTPS2, YY2 (V185M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2476931	NM_206923.4(YY2):c.332T>G (p.Ile111Ser)	MBTPS2, YY2 (I111S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2472683	NM_206923.4(YY2):c.574G>A (p.Asp192Asn)	MBTPS2, YY2 (D192N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2456090	NM_206923.4(YY2):c.568C>T (p.Pro190Ser)	MBTPS2, YY2 (P190S)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2426217	NC_000023.10:g.(?_21857853)_(21900773_?)del	MBTPS2, YY2	Deletion	not provided	GUncertain significance
Select item 2409370	NM_206923.4(YY2):c.1007C>G (p.Thr336Ser)	MBTPS2, YY2 (T336S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2340464	NM_206923.4(YY2):c.622C>T (p.Pro208Ser)	MBTPS2, YY2 (P208S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2338719	NM_206923.4(YY2):c.551C>G (p.Ser184Cys)	MBTPS2, YY2 (S184C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2304516	NM_206923.4(YY2):c.508G>A (p.Glu170Lys)	MBTPS2, YY2 (E170K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2284805	NM_206923.4(YY2):c.284A>G (p.Asn95Ser)	MBTPS2, YY2 (N95S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2272876	NM_206923.4(YY2):c.409C>T (p.Arg137Cys)	MBTPS2, YY2 (R137C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2269833	NM_206923.4(YY2):c.581A>G (p.Asn194Ser)	MBTPS2, YY2 (N194S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2251310	NM_206923.4(YY2):c.1009G>T (p.Gly337Cys)	MBTPS2, YY2 (G337C)	Single nucleotide variant (missense variant +1 more)	not specified	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 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 1703581	GRCh37/hg19 Xp22.33-11.22(chrX:168546-52573789)	ACE2, ACOT9 +267 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 1703053	NM_206923.4(YY2):c.475G>A (p.Gly159Ser)	MBTPS2, YY2 (G159S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1369817	NC_000023.10:g.(?_21755681)_(22266301_?)del	MBTPS2, PHEX +3 more	Deletion	not provided	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 1340332	GRCh37/hg19 Xp22.12-22.11(chrX:20760624-22571267)x2	CBLL2, CNKSR2 +6 more	Copy number gain	not provided	GUncertain significance
Select item 1206285	NM_206923.4(YY2):c.1046A>G (p.Asn349Ser)	MBTPS2, YY2 (N349S)	Single nucleotide variant (missense variant +1 more)	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 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 816622	GRCh37/hg19 Xp22.33-21.1(chrX:168546-34753512)x1	FANCB, ARSD-AS1 +125 more	Copy number loss	not provided	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 816269	GRCh37/hg19 Xp22.33-22.11(chrX:537158-22883547)x1	TCEANC, CLTRN +90 more	Copy number loss	not provided	GPathogenic
Select item 689077	GRCh37/hg19 Xp22.2-22.11(chrX:13962918-22148232)x2	ACE2, ADGRG2 +46 more	Copy number gain	not provided	GPathogenic
Select item 689075	GRCh37/hg19 Xp22.2-22.11(chrX:13962918-22148232)x2	ACE2, ADGRG2 +46 more	Copy number gain	not provided	GPathogenic
Select item 688883	GRCh37/hg19 Xp22.33-22.11(chrX:2190434-23795839)x3	ACE2, ACOT9 +94 more	Copy number gain	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 686970	GRCh37/hg19 Xp22.12-21.1(chrX:20925922-35511818)x1	ACOT9, APOO +42 more	Copy number loss	not provided	GPathogenic
Select item 685809	GRCh37/hg19 Xp22.2-22.11(chrX:15330714-21915234)x2	ACE2, ADGRG2 +39 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	BEX1, BEX2 +818 more	Copy number gain	not provided	GPathogenic
Select item 684963	GRCh37/hg19 Xp22.33-11.4(chrX:168546-38054739)x1	ACE2, ACOT9 +139 more	Copy number loss	not provided	GPathogenic
Select item 638115	GRCh37/hg19 Xp22.33-11.22(chrX:60814-50519984)x1	ACE2, ACOT9 +257 more	Copy number loss	See cases	GPathogenic
Select item 635934	Single allele	SUPT20HL2, SYAP1 +177 more	Deletion	Neurodevelopmental disorder	GPathogenic
Select item 626291	Single allele	AKAP14, CCDC22 +733 more	Duplication	Syndromic X-linked intellectual disability Lubs type	GPathogenic
Select item 625794	GRCh37/hg19 Xp22.33-22.11(chrX:801301-23768392)	ACE2, ACOT9 +94 more	Copy number gain	not provided	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 564696	GRCh37/hg19 Xp22.33-11.23(chrX:168546-46908284)x1	ACE2, ACOT9 +170 more	Copy number loss	not provided	GPathogenic
Select item 564695	GRCh37/hg19 Xp22.33-11.3(chrX:168546-43248706)x1	ACE2, ACOT9 +154 more	Copy number loss	not provided	GPathogenic
Select item 564694	GRCh37/hg19 Xp22.33-22.11(chrX:168546-23785738)x1	PRDX4, ADGRG2 +94 more	Copy number loss	not provided	GPathogenic
Select item 545379	Single allele	ACE2, ACE2-DT +399 more	Duplication	Autism	GLikely pathogenic
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 443939	GRCh37/hg19 Xp22.12-22.11(chrX:21708594-22054641)x3	MBTPS2, PHEX +3 more	Copy number gain	See cases	GUncertain significance
Select item 443634	GRCh37/hg19 Xp22.33-21.1(chrX:168546-35841052)x1	ACE2, ACOT9 +127 more	Copy number loss	See cases	GPathogenic
Select item 443322	GRCh37/hg19 Xp22.33-11.1(chrX:168546-58527164)x1	ACE2, ACOT9 +314 more	Copy number loss	See cases	GPathogenic
Select item 443028	GRCh37/hg19 Xp22.33-11.21(chrX:168546-54996659)x1	SYN1, SYP +294 more	Copy number loss	See cases	GPathogenic
Select item 442812	GRCh37/hg19 Xp22.33-22.11(chrX:168546-24780527)x3	ACE2, ACOT9 +105 more	Copy number gain	See cases	GPathogenic
Select item 442790	GRCh37/hg19 Xp22.33-21.1(chrX:168546-37515849)x1	ACE2, ACOT9 +131 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 442354	GRCh37/hg19 Xp22.33-q13.3(chrX:168546-74549686)	ABCB7, ACE2 +390 more	Copy number loss	See cases	GPathogenic
Select item 442162	GRCh37/hg19 Xp22.33-11.21(chrX:168546-55240087)x1	AP1S2, APEX2 +300 more	Copy number loss	See cases	GPathogenic
Select item 442067	GRCh37/hg19 Xp22.33-11.21(chrX:168546-57504183)x1	ARSF, XAGE2 +312 more	Copy number loss	See cases	GPathogenic
Select item 442024	GRCh37/hg19 Xp22.2-21.2(chrX:15290524-29747172)x2	ACE2, ACOT9 +65 more	Copy number gain	See cases	GLikely pathogenic
Select item 441995	GRCh37/hg19 Xp22.33-21.2(chrX:168546-31085327)x1	ACE2, ACOT9 +121 more	Copy number loss	See cases	GPathogenic
Select item 441968	GRCh37/hg19 Xp22.33-11.21(chrX:168564-57413442)x1	AP1S2, APEX2 +312 more	Copy number loss	See cases	GPathogenic
Select item 441856	GRCh37/hg19 Xp22.33-11.21(chrX:168546-57683964)x1	WDR45, WNK3 +313 more	Copy number loss	See cases	GPathogenic
Select item 441601	GRCh37/hg19 Xp22.12-22.11(chrX:21708594-22063592)x2	MBTPS2, PHEX +3 more	Copy number gain	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 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 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	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 253571	GRCh37/hg19 Xp22.33-11.21(chrX:70297-58066465)x1	ACE2, ACOT9 +316 more	Copy number loss	See cases	GPathogenic

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