ClinVar for Gene (Select 286343) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3292318	NM_203403.2(LURAP1L):c.649C>G (p.Arg217Gly)	LURAP1L (R217G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3292317	NM_203403.2(LURAP1L):c.433C>T (p.Leu145Phe)	LURAP1L (L145F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3292316	NM_203403.2(LURAP1L):c.517G>C (p.Gly173Arg)	LURAP1L (G173R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3292315	NM_203403.2(LURAP1L):c.506A>G (p.Asp169Gly)	LURAP1L (D169G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3121562	NM_203403.2(LURAP1L):c.85C>A (p.Arg29Ser)	LURAP1L, LURAP1L-AS1 (R29S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3121561	NM_203403.2(LURAP1L):c.464G>A (p.Ser155Asn)	LURAP1L (S155N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3121560	NM_203403.2(LURAP1L):c.409A>G (p.Thr137Ala)	LURAP1L (T137A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3121559	NM_203403.2(LURAP1L):c.191G>A (p.Ser64Asn)	LURAP1L, LURAP1L-AS1 (S64N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3121558	NM_203403.2(LURAP1L):c.170G>A (p.Ser57Asn)	LURAP1L, LURAP1L-AS1 (S57N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3121557	NM_203403.2(LURAP1L):c.131G>C (p.Gly44Ala)	LURAP1L, LURAP1L-AS1 (G44A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063080	GRCh37/hg19 9p24.3-22.3(chr9:203861-15508556)x1	AK3, BRD10 +47 more	Copy number loss	not specified	GPathogenic
Select item 3063071	GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020389)x3	DMAC1, DMRT1 +769 more	Copy number gain	not specified	GPathogenic
Select item 3063070	GRCh37/hg19 9p24.3-22.1(chr9:203861-19302836)x1	ADAMTSL1, AK3 +57 more	Copy number loss	not specified	GPathogenic
Select item 2685337	GRCh37/hg19 9p24.1-22.3(chr9:8595338-15622555)x1	CCDC171, CER1 +10 more	Copy number loss	not provided	GPathogenic
Select item 2684569	GRCh37/hg19 9p24.3-13.1(chr9:1475882-38771831)x3	CREB3, STOML2 +188 more	Copy number gain	not provided	GPathogenic
Select item 2671611	Single allele	AK3, BNC2 +49 more	Deletion	not provided	GPathogenic
Select item 2615731	NM_203403.2(LURAP1L):c.640C>G (p.Leu214Val)	LURAP1L (L214V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2535974	NM_203403.2(LURAP1L):c.650G>A (p.Arg217His)	LURAP1L (R217H)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2424774	NC_000009.11:g.(?_12693997)_(13224602_?)dup	LURAP1L, MPDZ +1 more	Duplication	not provided	GUncertain significance
Select item 2424772	NC_000009.11:g.(?_12693997)_(13206118_?)dup	LURAP1L, MPDZ +1 more	Duplication	not provided	GUncertain significance
Select item 2403974	NM_203403.2(LURAP1L):c.169A>G (p.Ser57Gly)	LURAP1L, LURAP1L-AS1 (S57G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2389749	NM_203403.2(LURAP1L):c.181A>T (p.Ser61Cys)	LURAP1L, LURAP1L-AS1 (S61C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2388479	NM_203403.2(LURAP1L):c.181A>C (p.Ser61Arg)	LURAP1L, LURAP1L-AS1 (S61R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2388232	NM_203403.2(LURAP1L):c.178A>T (p.Ser60Cys)	LURAP1L, LURAP1L-AS1 (S60C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2330587	NM_203403.2(LURAP1L):c.390G>C (p.Trp130Cys)	LURAP1L (W130C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2307014	NM_203403.2(LURAP1L):c.207G>C (p.Leu69Phe)	LURAP1L, LURAP1L-AS1 (L69F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2287496	NM_203403.2(LURAP1L):c.656A>C (p.Lys219Thr)	LURAP1L (K219T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2285014	NM_203403.2(LURAP1L):c.106A>G (p.Arg36Gly)	LURAP1L, LURAP1L-AS1 (R36G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2276171	NM_203403.2(LURAP1L):c.239G>T (p.Gly80Val)	LURAP1L, LURAP1L-AS1 (G80V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2272125	NM_203403.2(LURAP1L):c.346C>A (p.Arg116Ser)	LURAP1L (R116S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2270840	NM_203403.2(LURAP1L):c.236C>T (p.Ser79Phe)	LURAP1L, LURAP1L-AS1 (S79F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2264816	NM_203403.2(LURAP1L):c.171T>A (p.Ser57Arg)	LURAP1L, LURAP1L-AS1 (S57R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2253489	NM_203403.2(LURAP1L):c.521T>C (p.Leu174Pro)	LURAP1L (L174P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2253190	NM_203403.2(LURAP1L):c.398A>T (p.Glu133Val)	LURAP1L (E133V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2228688	NM_203403.2(LURAP1L):c.172A>G (p.Ser58Gly)	LURAP1L, LURAP1L-AS1 (S58G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2227862	NM_203403.2(LURAP1L):c.428G>C (p.Ser143Thr)	LURAP1L (S143T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1809074	GRCh37/hg19 9p23(chr9:12356017-13444934)x3	LURAP1L, MPDZ +1 more	Copy number gain	not provided	GUncertain significance
Select item 1711101	GRCh37/hg19 9p24.3-q34.11(chr9:203861-131603223)x3	ADAMTSL1, CEP78 +596 more	Copy number gain	See cases	GPathogenic
Select item 1708182	GRCh37/hg19 9p24.3-22.3(chr9:203861-15048247)x1	AK3, BRD10 +44 more	Copy number loss	See cases	GPathogenic
Select item 1707628	GRCh37/hg19 9p24.3-13.1(chr9:48827-39154913)x3	ACER2, ACO1 +199 more	Copy number gain	Syndromic anorectal malformation	GLikely pathogenic
Select item 1704647	GRCh37/hg19 9p24.3-13.3(chr9:203861-35903398)x3	ACER2, ACO1 +169 more	Copy number gain	MISSED ABORTION	GPathogenic
Select item 1703681	GRCh37/hg19 9p24.1-22.1(chr9:4992582-19322101)	ADAMTSL1, BNC2 +38 more	Copy number loss	Chromosome 9p deletion syndrome	GPathogenic
Select item 1703576	GRCh37/hg19 9p24.3-q13(chr9:203861-68342786)	ACER2, ACO1 +204 more	Copy number gain	Bradycardia	GPathogenic
Select item 1703570	GRCh37/hg19 9p24.3-q13(chr9:203861-67986965)	ACER2, ACO1 +204 more	Copy number gain	Tetrasomy 9p	GPathogenic
Select item 1527509	GRCh37/hg19 9p24.1-22.1(chr9:6788084-19213960)	ADAMTSL1, BNC2 +20 more	Copy number loss	not specified	GUncertain significance
Select item 1527495	GRCh37/hg19 9p24.3-13.3(chr9:676264-33743670)	ACER2, ACO1 +114 more	Copy number gain	not specified	GPathogenic
Select item 1527491	GRCh37/hg19 9p24.3-q34.3(chr9:353349-141020389)	ANKRD18A, ANKRD18B +768 more	Copy number gain	not specified	GPathogenic
Select item 1527488	GRCh37/hg19 9p24.3-q21.32(chr9:203861-84155399)	SPATA31A5, SPATA31A6 +257 more	Copy number gain	not specified	GPathogenic
Select item 1527487	GRCh37/hg19 9p24.3-q21.11(chr9:203861-69002883)	ACER2, ACO1 +205 more	Copy number gain	not specified	GPathogenic
Select item 1527485	GRCh37/hg19 9p24.3-22.2(chr9:203861-16856907)	AK3, BNC2 +49 more	Copy number loss	not specified	GPathogenic
Select item 1527484	GRCh37/hg19 9p24.3-22.3(chr9:203861-15211277)	AK3, BRD10 +45 more	Copy number loss	not specified	GPathogenic
Select item 1527483	GRCh37/hg19 9p24.3-22.3(chr9:203861-14694074)	AK3, BRD10 +42 more	Copy number loss	not specified	GPathogenic
Select item 1527482	GRCh37/hg19 9p24.3-22.3(chr9:203861-14322268)	AK3, BRD10 +41 more	Copy number loss	not specified	GPathogenic
Select item 1439934	NC_000009.11:g.(?_12693997)_(13250314_?)dup	LURAP1L, MPDZ +1 more	Duplication	not provided	GUncertain significance
Select item 1047891	GRCh37/hg19 9p24.3-22.1(chr9:204193-18654812)	PTPRD, PUM3 +52 more	Copy number loss	Trigonocephaly	GPathogenic
Select item 981212	GRCh37/hg19 9p24.3-22.2(chr9:204193-18073357)x1	TTC39B, TYRP1 +51 more	Copy number loss	Chromosome 9p deletion syndrome	GPathogenic
Select item 980897	GRCh37/hg19 9p23(chr9:11704534-12801148)x3	LURAP1L, TYRP1	Copy number gain	not provided	GUncertain significance
Select item 929318	GRCh37/hg19 9p23(chr9:12460256-13708607)x3	LURAP1L, MPDZ +1 more	Copy number gain	See cases	GUncertain significance
Select item 916565	NM_203403.2(LURAP1L):c.346C>T (p.Arg116Cys)	LURAP1L (R116C)	Single nucleotide variant (missense variant)	Tracheoesophageal fistula	GLikely pathogenic
Select item 815232	GRCh37/hg19 9p23(chr9:10906560-12914471)x3	LURAP1L, TYRP1	Copy number gain	not provided	GUncertain significance
Select item 815190	GRCh37/hg19 9p24.3-q21.11(chr9:203861-70984588)x3	ACER2, ACO1 +213 more	Copy number gain	not provided	GPathogenic
Select item 815189	GRCh37/hg19 9p24.3-23(chr9:203861-14080419)x1	AK3, BRD10 +40 more	Copy number loss	not provided	GPathogenic
Select item 815188	GRCh37/hg19 9p24.3-23(chr9:203861-14103730)x1	DMAC1, ERMP1 +41 more	Copy number loss	not provided	GPathogenic
Select item 815186	GRCh37/hg19 9p24.3-22.2(chr9:203861-17789410)x1	LURAP1L, MIR101-2 +51 more	Copy number loss	not provided	GPathogenic
Select item 694460	NC_000009.11:g.12246100_101559378inv	ANKS6, ANP32B +326 more	Inversion	Abnormal chromosome morphology +1 more	GLikely pathogenic
Select item 687476	GRCh37/hg19 9p24.3-13.1(chr9:203861-38472979)x3	CER1, CHMP5 +193 more	Copy number gain	not provided	GPathogenic
Select item 686089	GRCh37/hg19 9p23-22.3(chr9:12392499-14446948)x1	LURAP1L, MPDZ +2 more	Copy number loss	not provided	GUncertain significance
Select item 685192	GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020388)x3	MSMP, OR13D1 +769 more	Copy number gain	not provided	GPathogenic
Select item 685107	GRCh37/hg19 9p24.3-q13(chr9:203861-67986965)x3	CNTNAP3B, CREB3 +204 more	Copy number gain	not provided	GPathogenic
Select item 684956	GRCh37/hg19 9p24.3-22.1(chr9:203861-19448473)x3	CCDC171, ACER2 +59 more	Copy number gain	not provided	GPathogenic
Select item 625636	GRCh37/hg19 9p24.3-13.1(chr9:214309-39156958)	GBA2, MPDZ +195 more	Copy number gain	not provided	GPathogenic
Select item 563687	GRCh37/hg19 9p24.3-q21.12(chr9:203861-72717793)x3	ACER2, ACO1 +225 more	Copy number gain	not provided	GPathogenic
Select item 563686	GRCh37/hg19 9p24.3-q21.11(chr9:203861-70985795)x4	ACER2, ACO1 +213 more	Copy number gain	not provided	GPathogenic
Select item 563685	GRCh37/hg19 9p24.3-q13(chr9:203861-68262804)x3,4	CNTNAP3, CNTNAP3B +204 more	Copy number gain	not provided	GPathogenic
Select item 563684	GRCh37/hg19 9p24.3-q13(chr9:203861-67983174)x4	ATOSB, B4GALT1 +204 more	Copy number gain	not provided	GPathogenic
Select item 563683	GRCh37/hg19 9p24.3-13.1(chr9:203861-38787480)x3	DMAC1, DMRT1 +194 more	Copy number gain	not provided	GPathogenic
Select item 563682	GRCh37/hg19 9p24.3-21.2(chr9:203861-26397133)x3	DMAC1, TYRP1 +89 more	Copy number gain	not provided	GPathogenic
Select item 563681	GRCh37/hg19 9p24.3-21.3(chr9:203861-20653468)x3	ZDHHC21, ACER2 +61 more	Copy number gain	not provided	GPathogenic
Select item 563679	GRCh37/hg19 9p24.3-22.3(chr9:203861-14744606)x1	AK3, BRD10 +44 more	Copy number loss	not provided	GPathogenic
Select item 563669	GRCh37/hg19 9p23(chr9:9938034-13049945)x3	LURAP1L, PTPRD +1 more	Copy number gain	not provided	GUncertain significance
Select item 559575	GRCh37/hg19 9p24.3-11.2(chr9:204193-44259464)x4	ACER2, ACO1 +201 more	Copy number gain	Syndromic hydrocephalus due to diffuse villous hyperplasia of choroid plexus	GLikely pathogenic
Select item 523160	GRCh37/hg19 9p23-21.2(chr9:10320113-26205565)x1	RPS6, TYRP1 +51 more	Copy number loss	Poly (ADP-Ribose) polymerase inhibitor response	Gdrug response
Select item 443986	GRCh37/hg19 9p24.3-q34.3(chr9:203862-141020389)	ODF2, OGN +769 more	Copy number gain	See cases	GPathogenic
Select item 443225	GRCh37/hg19 9p24.2-22.3(chr9:4581369-14848338)x1	AK3, BRD10 +32 more	Copy number loss	See cases	GPathogenic
Select item 443177	GRCh37/hg19 9p24.3-13.1(chr9:203861-38787480)x3	ACER2, ACO1 +194 more	Copy number gain	See cases	GPathogenic
Select item 442671	GRCh37/hg19 9p24.3-23(chr9:203861-13486759)x1	AK3, BRD10 +40 more	Copy number loss	See cases	GPathogenic
Select item 442489	GRCh37/hg19 9p24.3-q21.33(chr9:203861-88189913)x3	ABHD17B, ACER2 +274 more	Copy number gain	See cases	GPathogenic
Select item 442304	GRCh37/hg19 9p24.3-22.2(chr9:203861-17655298)x1	AK3, BNC2 +51 more	Copy number loss	See cases	GPathogenic
Select item 442183	GRCh37/hg19 9p24.1-21.1(chr9:5900425-30008330)x3	ACER2, ADAMTSL1 +69 more	Copy number gain	See cases	GPathogenic
Select item 441876	GRCh37/hg19 9p24.3-22.2(chr9:203861-17125893)x1	AK3, BNC2 +49 more	Copy number loss	See cases	GPathogenic
Select item 402120	GRCh37/hg19 9p23(chr9:12350523-13444932)x3	LURAP1L, TYRP1 +1 more	Copy number gain	See cases	GUncertain significance
Select item 395707	GRCh37/hg19 9p24.3-q34.3(chr9:62525-141006407)	ABCA1, ABCA2 +771 more	Copy number gain	See cases	GPathogenic
Select item 395592	GRCh37/hg19 9p23(chr9:12704480-13649436)x3	TYRP1, LURAP1L +1 more	Copy number gain	See cases	GLikely benign
Select item 395220	GRCh37/hg19 9p23(chr9:12643510-12794563)x1	LURAP1L, TYRP1	Copy number loss	See cases	GLikely benign
Select item 394346	GRCh37/hg19 9p24.3-13.1(chr9:32396-39140211)	CIMIP2B, CLTA +197 more	Copy number gain	See cases	GPathogenic
Select item 394262	GRCh37/hg19 9p24.3-22.2(chr9:213161-17496750)x1	PUM3, RANBP6 +50 more	Copy number loss	See cases	GPathogenic
Select item 393860	GRCh37/hg19 9p24.3-q21.11(chr9:13997-70919878)x4	ACER2, ACO1 +215 more	Copy number gain	See cases	GPathogenic
Select item 253670	GRCh37/hg19 9p24.3-22.1(chr9:213161-19450250)x3	ACER2, ADAMTSL1 +59 more	Copy number gain	See cases	GPathogenic
Select item 253667	GRCh37/hg19 9p24.3-13.1(chr9:213161-39092820)x3	ACER2, ACO1 +195 more	Copy number gain	See cases	GPathogenic
Select item 253633	GRCh37/hg19 9p24.3-13.1(chr9:163131-38763958)x3	ACER2, ACO1 +195 more	Copy number gain	See cases	GPathogenic

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