ClinVar for Gene (Select 8406) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3170069	NM_006307.5(SRPX):c.831C>A (p.Ser277Arg)	SRPX (S218R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3170068	NM_006307.5(SRPX):c.773G>T (p.Arg258Ile)	SRPX (R258I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3170067	NM_006307.5(SRPX):c.761G>C (p.Arg254Pro)	SRPX (R254P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3170066	NM_006307.5(SRPX):c.711C>G (p.Ile237Met)	SRPX (I217M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3170065	NM_006307.5(SRPX):c.50T>G (p.Leu17Arg)	SRPX (L17R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3170064	NM_006307.5(SRPX):c.340A>G (p.Ile114Val)	SRPX (I94V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3170063	NM_006307.5(SRPX):c.337G>T (p.Val113Phe)	SRPX (V93F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3170062	NM_006307.5(SRPX):c.1166G>T (p.Arg389Met)	SRPX (R369M +2 more)	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 3062483	GRCh37/hg19 Xp21.1-11.4(chrX:33027159-39840641)	CFAP47, CYBB +17 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 3024653	GRCh37/hg19 Xp11.4(chrX:38059567-38180342)x1	RPGR, SRPX	Copy number loss	not provided	GPathogenic
Select item 3024652	GRCh37/hg19 Xp11.4(chrX:38059567-38170026)x0	RPGR, SRPX	Copy number loss	not provided	GPathogenic
Select item 2690159	NM_006307.5(SRPX):c.59_62delinsC (p.Leu20_Leu21delinsPro)	SRPX	Indel (inframe_indel)	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 2685701	GRCh37/hg19 Xp22.11-11.3(chrX:24633854-44236178)x1	XK, ARX +51 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 2660290	NM_006307.5(SRPX):c.834C>T (p.Asp278=)	SRPX	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2660289	NM_006307.5(SRPX):c.938C>T (p.Thr313Met)	SRPX (T254M +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2622665	NM_006307.5(SRPX):c.1150C>T (p.Pro384Ser)	SRPX (P384S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2596423	NM_006307.5(SRPX):c.469C>T (p.Arg157Trp)	SRPX (R137W +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2593928	NM_006307.5(SRPX):c.475G>A (p.Val159Ile)	SRPX (V139I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2592168	NM_006307.5(SRPX):c.236C>A (p.Thr79Lys)	SRPX (T59K +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2551807	NM_006307.5(SRPX):c.1183A>C (p.Met395Leu)	SRPX (M336L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2527314	NM_006307.5(SRPX):c.305T>C (p.Ile102Thr)	SRPX (I102T +1 more)	Single nucleotide variant (missense variant)	not specified	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 2487926	NM_006307.5(SRPX):c.1129G>T (p.Val377Leu)	SRPX (V318L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2481735	NM_006307.5(SRPX):c.1179G>C (p.Lys393Asn)	SRPX (K334N +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2456194	NM_006307.5(SRPX):c.425G>A (p.Arg142Gln)	SRPX (R122Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2423237	NC_000023.10:g.(?_37639262)_(38212036_?)dup	CYBB, DYNLT3 +5 more	Duplication	Ornithine carbamoyltransferase deficiency	GUncertain significance
Select item 2385031	NM_006307.5(SRPX):c.736G>C (p.Glu246Gln)	SRPX (E246Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2367614	NM_006307.5(SRPX):c.1115G>T (p.Arg372Leu)	SRPX (R352L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2366853	NM_006307.5(SRPX):c.1111C>T (p.Leu371Phe)	SRPX (L312F +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2366563	NM_006307.5(SRPX):c.676C>G (p.Pro226Ala)	SRPX (P167A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2360737	NM_006307.5(SRPX):c.1090C>A (p.Gln364Lys)	SRPX (Q305K +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2341477	NM_006307.5(SRPX):c.896G>T (p.Ser299Ile)	SRPX (S279I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2341369	NM_006307.5(SRPX):c.367C>T (p.Leu123Phe)	SRPX (L123F +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2336765	NM_006307.5(SRPX):c.1240T>C (p.Phe414Leu)	SRPX (F414L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2307033	NM_006307.5(SRPX):c.44C>G (p.Pro15Arg)	SRPX (P15R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2284674	NM_006307.5(SRPX):c.643A>T (p.Ile215Phe)	SRPX (I195F +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2264117	NM_006307.5(SRPX):c.821A>T (p.Lys274Met)	SRPX (K215M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2226577	NM_006307.5(SRPX):c.769G>C (p.Val257Leu)	SRPX (V198L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2226462	NM_006307.5(SRPX):c.536C>T (p.Pro179Leu)	SRPX (P159L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1809378	GRCh37/hg19 Xp11.4(chrX:37722819-38713056)x3	H2AP, MID1IP1 +5 more	Copy number gain	not provided	GUncertain significance
Select item 1808178	GRCh37/hg19 Xp21.1-11.4(chrX:37472901-38023139)x2	CYBB, DYNLT3 +5 more	Copy number gain	not provided	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 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 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 1331591	NM_006307.5(SRPX):c.9C>A (p.Ser3Arg)	SRPX (S3R)	Single nucleotide variant (missense variant)	not provided +1 more	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 1076887	NC_000023.10:g.(?_37545215)_(38280335_?)del	XK, CYBB +6 more	Deletion	Ornithine carbamoyltransferase deficiency	GPathogenic
Select item 1055977	NC_000023.10:g.(?_37545209)_(38186626_?)dup	SYTL5, XK +5 more	Duplication	Primary ciliary dyskinesia	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 983193	GRCh37/hg19 Xp22.33-11.21(chrX:219609-55466476)x1	ACE2, ACOT9 +304 more	Copy number loss	See cases	GPathogenic
Select item 979791	GRCh37/hg19 Xp21.1-11.4(chrX:37487291-38568933)x3	OTC, RPGR +8 more	Copy number gain	not provided	GUncertain significance
Select item 975141	Single allele	CFAP47, CXorf22 +14 more	Deletion	Retinitis pigmentosa 3	GPathogenic
Select item 833473	NC_000023.10:g.(?_30326313)_(41000684_?)del	ATP6AP2, BCOR +30 more	Deletion	Ornithine carbamoyltransferase deficiency	GPathogenic
Select item 833460	NC_000023.11:g.(?_37780009)_(38421102_?)del	H2AP, DYNLT3 +5 more	Deletion	Granulomatous disease, chronic, X-linked	GPathogenic
Select item 816337	GRCh37/hg19 Xp21.1-11.3(chrX:32849282-43713387)x1	ATP6AP2, BCOR +32 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 777790	NM_006307.5(SRPX):c.98-3T>C	SRPX	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 771059	NM_006307.5(SRPX):c.673C>T (p.Pro225Ser)	SRPX (P225S +2 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 748967	NM_006307.5(SRPX):c.1032T>C (p.Ile344=)	SRPX	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 742099	NM_006307.5(SRPX):c.1200G>A (p.Ala400=)	SRPX	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 729004	NM_006307.5(SRPX):c.1257G>T (p.Val419=)	SRPX (G379*)	Single nucleotide variant (synonymous variant +1 more)	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 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 684965	GRCh37/hg19 Xp11.4(chrX:38056276-40565244)x3	ATP6AP2, BCOR +8 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	PAGE2B, PAGE3 +733 more	Duplication	Syndromic X-linked intellectual disability Lubs type	GPathogenic
Select item 599603	NM_006307.5(SRPX):c.731G>C (p.Arg244Thr)	SRPX (R244T +2 more)	Single nucleotide variant (missense variant)	Short stature	GLikely pathogenic
Select item 599602	NM_006307.5(SRPX):c.508C>T (p.Arg170Trp)	SRPX (R170W +1 more)	Single nucleotide variant (missense variant +1 more)	Short stature	GUncertain significance
Select item 564831	GRCh37/hg19 Xp11.4(chrX:37785553-38011836)x3	SRPX, SYTL5 +1 more	Copy number gain	not provided	GLikely benign
Select item 564830	GRCh37/hg19 Xp11.4(chrX:37785553-38011836)x2	SYTL5, SRPX +1 more	Copy number gain	not provided	GUncertain significance
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 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 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 443208	GRCh37/hg19 Xp21.1-11.4(chrX:37584811-38467647)x2	XK, CYBB +7 more	Copy number gain	See cases	GUncertain significance
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

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