ClinVar for Gene (Select 6855) - ClinVar - NCBI

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

Links from Gene

Items: 1 to 100 of 222

<< First< Prev

Page of 3

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3064753	NM_003179.3(SYP):c.882C>G (p.Asp294Glu)	SYP (D294E)	Single nucleotide variant (missense variant)	Intellectual disability, X-linked 96	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 3062057	NM_003179.3(SYP):c.54G>C (p.Gln18His)	SYP-AS1, SYP (Q18H)	Single nucleotide variant (non-coding transcript variant +1 more)	Intellectual disability, X-linked 96	GUncertain significance
Select item 3039461	NM_003179.3(SYP):c.603C>T (p.Leu201=)	SYP	Single nucleotide variant (synonymous variant)	SYP-related condition	GLikely benign
Select item 3025801	NM_003179.3(SYP):c.138C>T (p.Ser46=)	SYP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3024328	NM_003179.3(SYP):c.615+2T>C	SYP	Single nucleotide variant (splice donor variant)	Intellectual disability, X-linked 96	GLikely pathogenic
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 2685690	GRCh37/hg19 Xp22.33-11.22(chrX:2696762-53113314)x1	HDAC6, RGN +275 more	Copy number loss	not provided	GPathogenic
Select item 2684980	GRCh37/hg19 Xp11.23-11.22(chrX:48224455-52832596)x3	AKAP4, BMP15 +75 more	Copy number gain	not provided	GPathogenic
Select item 2683588	NM_003179.3(SYP):c.31A>C (p.Asn11His)	LOC130068281, SYP +1 more (N11H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2683587	NM_003179.3(SYP):c.456G>A (p.Met152Ile)	LOC119407421, SYP (M152I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2672138	NM_003179.3(SYP):c.61G>A (p.Val21Met)	SYP, SYP-AS1 (V21M)	Single nucleotide variant (non-coding transcript variant +1 more)	Intellectual disability, X-linked 96 +1 more	GUncertain significance
Select item 2664186	NM_003179.3(SYP):c.49G>A (p.Gly17Ser)	SYP, SYP-AS1 (G17S)	Single nucleotide variant (non-coding transcript variant +1 more)	Intellectual disability, X-linked 96	GUncertain significance
Select item 2662521	NM_003179.3(SYP):c.53A>G (p.Gln18Arg)	SYP, SYP-AS1 (Q18R)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2660518	NM_003179.3(SYP):c.227+83G>T	SYP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2660517	NM_003179.3(SYP):c.512C>T (p.Thr171Ile)	SYP (T171I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2637777	NM_003179.3(SYP):c.109G>A (p.Ala37Thr)	SYP (A37T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2637670	NM_003179.3(SYP):c.375C>T (p.Tyr125=)	SYP	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 2581831	NM_003179.3(SYP):c.251C>G (p.Ala84Gly)	SYP (A84G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2573736	NM_003179.3(SYP):c.898T>C (p.Tyr300His)	SYP (Y300H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2512291	NM_003179.3(SYP):c.184G>A (p.Glu62Lys)	SYP (E62K)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 2506546	GRCh37/hg19 Xp22.33-q28(chrX:200855-155240074)	BMX, CXorf38 +821 more	Copy number gain	Klinefelter syndrome	GPathogenic
Select item 2506289	NM_003179.3(SYP):c.61G>C (p.Val21Leu)	SYP, SYP-AS1 (V21L)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2502128	NM_003179.3(SYP):c.305C>T (p.Ser102Leu)	SYP (S102L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2501541	NM_003179.3(SYP):c.611C>T (p.Ser204Leu)	SYP (S204L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2445496	NC_000023.10:g.(?_46466387)_(51241672_?)del	CCDC120, ZNF630 +91 more	Deletion	not provided	GPathogenic
Select item 2436915	NM_003179.3(SYP):c.787G>A (p.Gly263Arg)	SYP (G263R)	Single nucleotide variant (missense variant)	Intellectual disability, X-linked 96	GUncertain significance
Select item 2425881	NC_000023.10:g.(?_46466387)_(50659607_?)del	AKAP4, ARAF +89 more	Deletion	Insulin-dependent diabetes mellitus secretory diarrhea syndrome	GPathogenic
Select item 2425310	NC_000023.10:g.(?_48932462)_(49089771_?)dup	CACNA1F, GPKOW +5 more	Duplication	not provided	GUncertain significance
Select item 2425308	NC_000023.10:g.(?_48368209)_(51241672_?)del	AKAP4, BMP15 +60 more	Deletion	not provided	GPathogenic
Select item 2423581	NC_000023.10:g.(?_47001716)_(50659607_?)dup	AKAP4, ARAF +85 more	Duplication	Neurodegeneration with brain iron accumulation 5 +2 more	GUncertain significance
Select item 2422979	NC_000023.10:g.(?_48368209)_(51241672_?)dup	CCNB3, AKAP4 +60 more	Duplication	Thrombocytopenia 1 +2 more	GUncertain significance
Select item 2363761	NM_003179.3(SYP):c.312C>T (p.Ala104=)	SYP	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GBenign
Select item 2302187	NM_003179.3(SYP):c.514G>A (p.Asp172Asn)	SYP (D172N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1808658	GRCh37/hg19 Xp11.4-11.22(chrX:39525562-52832596)x3	AKAP4, ARAF +126 more	Copy number gain	not provided	GPathogenic
Select item 1802096	NM_003179.3(SYP):c.853G>A (p.Gly285Ser)	SYP (G285S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1739921	NM_003179.3(SYP):c.434C>T (p.Ala145Val)	LOC119407421, SYP (A145V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1722781	NM_003179.3(SYP):c.170G>C (p.Cys57Ser)	SYP (C57S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1709598	NM_003179.3(SYP):c.786C>G (p.Tyr262Ter)	SYP (Y262*)	Single nucleotide variant (nonsense)	Intellectual disability, X-linked 96	GUncertain significance
Select item 1707442	GRCh37/hg19 Xp22.2-q28(chrX:11522765-155233731)x1	MIR224, MIR424 +793 more	Copy number loss	See cases	GPathogenic
Select item 1705715	NM_003179.3(SYP):c.214G>T (p.Glu72Ter)	SYP (E72*)	Single nucleotide variant (nonsense)	Intellectual disability, X-linked 96	GUncertain significance
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 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 +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 1700130	NM_003179.3(SYP):c.684G>A (p.Trp228Ter)	SYP (W228*)	Single nucleotide variant (nonsense)	Neurodevelopmental delay	GLikely pathogenic
Select item 1699249	NM_003179.3(SYP):c.367G>A (p.Ala123Thr)	SYP (A123T)	Single nucleotide variant (missense variant)	Intellectual disability, X-linked 96	GUncertain significance
Select item 1698307	NM_003179.3(SYP):c.902G>A (p.Gly301Asp)	SYP (G301D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1698293	NM_003179.3(SYP):c.46G>C (p.Gly16Arg)	SYP, SYP-AS1 (G16R)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 1695869	NM_003179.3(SYP):c.121T>C (p.Phe41Leu)	SYP (F41L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1683820	NM_003179.3(SYP):c.626T>G (p.Phe209Cys)	SYP (F209C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1411770	NC_000023.10:g.(?_48932462)_(49840657_?)dup	PPP1R3F, PRICKLE3 +31 more	Duplication	Insulin-dependent diabetes mellitus secretory diarrhea syndrome	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 1339647	NM_003179.3(SYP):c.2T>C (p.Met1Thr)	LOC130068281, SYP +1 more (M1T)	Single nucleotide variant (missense variant +1 more)	Intellectual disability, X-linked 96	GLikely pathogenic
Select item 1336184	NM_003179.3(SYP):c.801C>T (p.Ser267=)	SYP	Single nucleotide variant (synonymous variant)	not specified	GUncertain significance
Select item 1334758	NM_003179.3(SYP):c.583G>A (p.Asp195Asn)	SYP (D195N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1313922	NM_003179.3(SYP):c.397C>T (p.Arg133Ter)	SYP (R133*)	Single nucleotide variant (nonsense)	not provided	GConflicting classifications of pathogenicity
Select item 1308855	NM_003179.3(SYP):c.3G>A (p.Met1Ile)	LOC130068281, SYP +1 more (M1I)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1308745	NM_003179.3(SYP):c.886G>A (p.Gly296Arg)	SYP (G296R)	Single nucleotide variant (missense variant)	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 1030635	NM_003179.3(SYP):c.526A>G (p.Ile176Val)	SYP (I176V)	Single nucleotide variant (missense variant)	Intellectual disability, X-linked 96	GUncertain significance
Select item 1007859	NC_000023.10:g.(?_48382160)_(49856876_?)dup	TIMM17B, USP27X +52 more	Duplication	SLC35A2-congenital disorder of glycosylation +1 more	GUncertain significance
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 987397	NM_003179.3(SYP):c.829_832del (p.Asp277fs)	SYP (D277fs)	Deletion (frameshift variant)	not provided	GLikely pathogenic
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 982860	NM_003179.3(SYP):c.103G>A (p.Val35Ile)	SYP (V35I)	Single nucleotide variant (missense variant)	Intellectual disability, X-linked 96	GUncertain significance
Select item 979778	GRCh37/hg19 Xp11.23-11.22(chrX:48178413-52686510)x2	AKAP4, BMP15 +73 more	Copy number gain	not provided	GPathogenic
Select item 979777	GRCh37/hg19 Xp11.23-11.22(chrX:48102202-52685635)x2	AKAP4, BMP15 +74 more	Copy number gain	not provided	GPathogenic
Select item 816349	GRCh37/hg19 Xp11.23-11.22(chrX:48307437-50657313)x3	AKAP4, BMP15 +60 more	Copy number gain	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 752111	NM_003179.3(SYP):c.705G>C (p.Ala235=)	SYP	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 743063	NM_003179.3(SYP):c.681C>A (p.Gly227=)	SYP	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 725059	NM_003179.3(SYP):c.624C>T (p.Gly208=)	SYP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 687087	GRCh37/hg19 Xp11.23-11.22(chrX:48224266-52744574)x2	NUDT10, NUDT11 +73 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 638115	GRCh37/hg19 Xp22.33-11.22(chrX:60814-50519984)x1	ACE2, ACOT9 +257 more	Copy number loss	See cases	GPathogenic
Select item 626291	Single allele	PAGE2B, PAGE3 +733 more	Duplication	Syndromic X-linked intellectual disability Lubs type	GPathogenic
Select item 590246	NM_003179.3(SYP):c.398G>A (p.Arg133Gln)	SYP (R133Q)	Single nucleotide variant (missense variant)	History of neurodevelopmental disorder	GLikely benign
Select item 564842	GRCh37/hg19 Xp11.23-11.22(chrX:48156672-52672728)x1	AKAP4, BMP15 +72 more	Copy number loss	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 443190	GRCh37/hg19 Xp11.23-11.22(chrX:48290189-52154997)x4	AKAP4, BMP15 +67 more	Copy number gain	See cases	GPathogenic
Select item 443184	GRCh37/hg19 Xp11.23-11.22(chrX:48224454-52813336)x3	AKAP4, BMP15 +74 more	Copy number gain	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

<< First< Prev

Page of 3