ClinVar for Gene (Select 54984) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3306676	NM_017884.6(PINX1):c.462G>C (p.Lys154Asn)	PINX1 (K154N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3306675	NM_017884.6(PINX1):c.39G>C (p.Trp13Cys)	PINX1 (W13C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3306674	NM_017884.6(PINX1):c.841G>C (p.Val281Leu)	LOC102723313, PINX1 (V281L)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3306673	NM_017884.6(PINX1):c.95G>A (p.Arg32Gln)	PINX1 (R32Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3306672	NM_017884.6(PINX1):c.872T>C (p.Leu291Pro)	LOC102723313, PINX1 (L291P)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GLikely benign
Select item 3306671	NM_017884.6(PINX1):c.860G>A (p.Arg287Gln)	LOC102723313, PINX1 (R287Q)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GLikely benign
Select item 3306670	NM_017884.6(PINX1):c.759G>C (p.Lys253Asn)	LOC102723313, PINX1 (K253N)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3306669	NM_017884.6(PINX1):c.515C>A (p.Thr172Lys)	LOC102723313, PINX1 (D146E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3306668	NM_017884.6(PINX1):c.604A>G (p.Ile202Val)	LOC102723313, PINX1 (I202V)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3242300	GRCh37/hg19 8p23.1(chr8:7153587-12245784)x3	BLK, C8orf74 +48 more	Copy number gain	not provided	GPathogenic
Select item 3213126	NM_017884.6(PINX1):c.911A>C (p.Lys304Thr)	LOC102723313, PINX1 (K304T)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3213125	NM_017884.6(PINX1):c.769G>C (p.Ala257Pro)	LOC102723313, PINX1 (A257P)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3213123	NM_017884.6(PINX1):c.762C>A (p.Ser254Arg)	LOC102723313, PINX1 (S254R)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GLikely benign
Select item 3213122	NM_017884.6(PINX1):c.711G>C (p.Glu237Asp)	LOC102723313, PINX1 (E237D)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3213121	NM_017884.6(PINX1):c.710A>G (p.Glu237Gly)	LOC102723313, PINX1 (E237G)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3213120	NM_017884.6(PINX1):c.707C>T (p.Thr236Met)	LOC102723313, PINX1 (T236M)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GLikely benign
Select item 3213119	NM_017884.6(PINX1):c.705C>G (p.His235Gln)	LOC102723313, PINX1 (H235Q)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3213118	NM_017884.6(PINX1):c.517A>G (p.Thr173Ala)	LOC102723313, PINX1 (T173A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3213117	NM_017884.6(PINX1):c.389C>T (p.Thr130Ile)	PINX1 (T130I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3213116	NM_017884.6(PINX1):c.308C>T (p.Ser103Leu)	PINX1 (S103L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3213115	NM_017884.6(PINX1):c.202G>A (p.Gly68Arg)	PINX1 (G68R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3213114	NM_017884.6(PINX1):c.191A>T (p.His64Leu)	PINX1 (H64L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3148928	GRCh37/hg19 8p23.3-22(chr8:158049-16225393)x3	AGPAT5, ANGPT2 +77 more	Copy number gain	See cases	GPathogenic
Select item 3063027	GRCh37/hg19 8p23.3-11.21(chr8:158048-41600696)x3	ADAM18, ADAM2 +234 more	Copy number gain	not specified	GPathogenic
Select item 3063013	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3	AARD, ABRA +665 more	Copy number gain	not specified	GPathogenic
Select item 3063012	GRCh37/hg19 8p23.1(chr8:10606024-10657406)x1	PINX1	Copy number loss	not specified	GUncertain significance
Select item 2685282	GRCh37/hg19 8p23.3-23.1(chr8:158049-11898696)x1	DEFB105A, DEFB107B +64 more	Copy number loss	not provided	GPathogenic
Select item 2684525	GRCh37/hg19 8p23.1(chr8:10416502-11323281)x3	C8orf74, FAM167A +6 more	Copy number gain	not provided	GUncertain significance
Select item 2684522	GRCh37/hg19 8p23.1-22(chr8:8093169-14526969)x3	BLK, C8orf48 +34 more	Copy number gain	not provided	GPathogenic
Select item 2684517	GRCh37/hg19 8p23.2-11.21(chr8:2201405-41723095)x3	SMIM18, SORBS3 +225 more	Copy number gain	not provided	GPathogenic
Select item 2608894	NM_017884.6(PINX1):c.668A>T (p.Asp223Val)	LOC102723313, PINX1 (D223V)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2596543	NM_017884.6(PINX1):c.867C>A (p.Phe289Leu)	LOC102723313, PINX1 (F289L)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2596321	NM_017884.6(PINX1):c.733G>A (p.Ala245Thr)	LOC102723313, PINX1 (A245T)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2596320	NM_017884.6(PINX1):c.688C>A (p.Pro230Thr)	LOC102723313, PINX1 (P230T)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2580328	GRCh37/hg19 8p23.3-23.1(chr8:10501-11142629)x1	AGPAT5, ANGPT2 +55 more	Copy number loss	See cases	GPathogenic
Select item 2580324	GRCh37/hg19 8p23.1(chr8:7080281-12045269)x3	BLK, C8orf74 +47 more	Copy number gain	8p23.1 duplication syndrome	GPathogenic
Select item 2579290	GRCh38/hg38 8p23.3-21.2(chr8:449893-23854904)x1	LOC126860300, LOC126860301 +720 more	Copy number loss	Neurodevelopmental disorder	GPathogenic
Select item 2554101	NM_017884.6(PINX1):c.563C>T (p.Ala188Val)	LOC102723313, PINX1 (A188V)	Single nucleotide variant (synonymous variant +1 more)	not specified	GUncertain significance
Select item 2552464	NM_017884.6(PINX1):c.764C>G (p.Ala255Gly)	LOC102723313, PINX1 (A255G)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GLikely benign
Select item 2549256	NM_017884.6(PINX1):c.733G>T (p.Ala245Ser)	LOC102723313, PINX1 (A245S)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2538863	NM_017884.6(PINX1):c.127A>G (p.Lys43Glu)	PINX1 (K43E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2537063	NM_017884.6(PINX1):c.311A>G (p.Asp104Gly)	PINX1 (D104G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2536526	NM_017884.6(PINX1):c.973A>G (p.Lys325Glu)	LOC102723313, PINX1 (K325E)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2530964	NM_017884.6(PINX1):c.730G>A (p.Glu244Lys)	LOC102723313, PINX1 (E244K)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GLikely benign
Select item 2513761	NM_017884.6(PINX1):c.589G>T (p.Val197Phe)	LOC102723313, PINX1 (S171I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2513448	NM_017884.6(PINX1):c.268G>A (p.Glu90Lys)	PINX1 (E90K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2494983	NM_017884.6(PINX1):c.463A>G (p.Thr155Ala)	PINX1 (T155A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2490598	NM_017884.6(PINX1):c.848C>T (p.Pro283Leu)	LOC102723313, PINX1 (P283L)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2462392	NM_017884.6(PINX1):c.215A>G (p.Asn72Ser)	PINX1 (N72S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2458256	NM_017884.6(PINX1):c.763G>A (p.Ala255Thr)	LOC102723313, PINX1 (A255T)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2405167	NM_017884.6(PINX1):c.856G>A (p.Gly286Ser)	LOC102723313, PINX1 (G286S)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2395378	NM_017884.6(PINX1):c.963G>C (p.Lys321Asn)	LOC102723313, PINX1 (K321N)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2359578	NM_017884.6(PINX1):c.452A>G (p.Gln151Arg)	PINX1 (Q151R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2356805	NM_017884.6(PINX1):c.599C>G (p.Ser200Cys)	LOC102723313, PINX1 (S200C)	Single nucleotide variant (synonymous variant +1 more)	not specified	GUncertain significance
Select item 2339497	NM_017884.6(PINX1):c.890G>C (p.Arg297Thr)	LOC102723313, PINX1 (R297T)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2339146	NM_017884.6(PINX1):c.767C>T (p.Pro256Leu)	LOC102723313, PINX1 (P256L)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2339145	NM_017884.6(PINX1):c.764C>T (p.Ala255Val)	LOC102723313, PINX1 (A255V)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2335749	NM_017884.6(PINX1):c.152G>A (p.Gly51Glu)	PINX1 (G51E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2335378	NM_017884.6(PINX1):c.815C>T (p.Ala272Val)	LOC102723313, PINX1 (A272V)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GLikely benign
Select item 2304700	NM_017884.6(PINX1):c.177A>T (p.Gln59His)	PINX1 (Q59H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2294590	NM_017884.6(PINX1):c.469G>C (p.Glu157Gln)	PINX1 (E157Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2277221	NM_017884.6(PINX1):c.299C>T (p.Thr100Ile)	PINX1 (T100I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1809268	GRCh37/hg19 8p23.1(chr8:10549767-10688997)x1	C8orf74, PINX1 +1 more	Copy number loss	not provided	GUncertain significance
Select item 1808721	GRCh37/hg19 8p23.3-23.1(chr8:158049-10965627)x1	AGPAT5, ANGPT2 +53 more	Copy number loss	not provided	GPathogenic
Select item 1807947	GRCh37/hg19 8p23.1(chr8:10688801-11010826)x3	PINX1, XKR6	Copy number gain	not provided	GUncertain significance
Select item 1807804	GRCh37/hg19 8p23.1(chr8:8093066-12548732)x1	CTSB, DEFB130A +29 more	Copy number loss	not provided	GPathogenic
Select item 1807751	GRCh37/hg19 8p23.3-22(chr8:158049-18936715)x1	AGPAT5, ANGPT2 +93 more	Copy number loss	not provided	GPathogenic
Select item 1711134	Single allele	CDCA2, CLDN23 +250 more	Complex	See cases	GPathogenic
Select item 1708195	GRCh37/hg19 8p23.3-23.1(chr8:158048-11281408)x1	AGPAT5, ANGPT2 +56 more	Copy number loss	See cases	GPathogenic
Select item 1707427	GRCh37/hg19 8p23.3-12(chr8:158048-30187456)x1	ADAM28, ADAM7 +180 more	Copy number loss	See cases	GPathogenic
Select item 1703667	GRCh37/hg19 8p23.1(chr8:8093168-11898980)	C8orf74, RP1L1 +23 more	Copy number gain	Neurodevelopmental delay	GPathogenic
Select item 1703665	Single allele	ADAMDEC1, ADGRA2 +251 more	Complex	8p inverted duplication/deletion syndrome	GPathogenic
Select item 1703544	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)	AARD, ABRA +665 more	Copy number gain	Polydactyly	GPathogenic
Select item 1466701	NC_000008.10:g.(?_9912027)_(11710963_?)del	BLK, C8orf74 +14 more	Deletion	not provided	GUncertain significance
Select item 1410533	NC_000008.10:g.(?_9912027)_(11710963_?)dup	BLK, C8orf74 +14 more	Duplication	not provided	GUncertain significance
Select item 1339975	GRCh37/hg19 8p23.3-23.1(chr8:158048-11936107)x3	AGPAT5, ANGPT2 +64 more	Copy number gain	not provided	GPathogenic
Select item 997076	GRCh37/hg19 8p23.3-11.1(chr8:176814-43396776)	SPAG11A, STMN4 +252 more	Copy number gain	Abnormal fetal cardiovascular morphology	GPathogenic
Select item 974794	GRCh37/hg19 8p23.3-23.1(chr8:176814-11472913)x1	DEFB106B, XKR5 +57 more	Copy number loss	Intellectual disability +1 more	GPathogenic
Select item 973603	GRCh37/hg19 8p23.1(chr8:9598226-10803255)x1	PINX1, PRSS51 +8 more	Copy number loss	Intellectual disability	GUncertain significance
Select item 929827	GRCh37/hg19 8p23.1(chr8:7881478-11860845)x1	NEIL2, PINX1 +23 more	Copy number loss	See cases	GPathogenic
Select item 815087	GRCh37/hg19 8p23.1(chr8:8093169-11272546)x1	MIR124-1, MSRA +14 more	Copy number loss	not provided	GPathogenic
Select item 815086	GRCh37/hg19 8p23.1(chr8:8093169-11936001)x1	C8orf74, CLDN23 +23 more	Copy number loss	not provided	GPathogenic
Select item 815085	GRCh37/hg19 8p23.1(chr8:8093065-11881742)x3	NEIL2, PINX1 +23 more	Copy number gain	not provided	GPathogenic
Select item 815083	GRCh37/hg19 8p23.1(chr8:6999219-11895232)x3	DEFB105B, DEFB106A +43 more	Copy number gain	not provided	GPathogenic
Select item 789598	NM_017884.6(PINX1):c.684C>G (p.Leu228=)	LOC102723313, PINX1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 688534	GRCh37/hg19 8p23.1(chr8:8093169-11898980)x1	BLK, C8orf74 +23 more	Copy number loss	not provided	GPathogenic
Select item 687787	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3	BAALC, CNOT7 +665 more	Copy number gain	not provided	GPathogenic
Select item 687652	GRCh37/hg19 8p23.1(chr8:8093065-11882913)x3	BLK, C8orf74 +23 more	Copy number gain	not provided	GPathogenic
Select item 687528	GRCh37/hg19 8p23.1(chr8:8093169-11888779)x3	PRSS51, PRSS55 +23 more	Copy number gain	not provided	GPathogenic
Select item 687158	GRCh37/hg19 8p23.1(chr8:8093065-11945856)x3	BLK, C8orf74 +23 more	Copy number gain	not provided	GPathogenic
Select item 687060	GRCh37/hg19 8p23.3-22(chr8:158048-14214722)x1	USP17L4, USP17L7 +75 more	Copy number loss	not provided	GPathogenic
Select item 686541	GRCh37/hg19 8p23.1(chr8:8102723-11936107)x3	BLK, C8orf74 +23 more	Copy number gain	not provided	GPathogenic
Select item 686056	GRCh37/hg19 8p23.1(chr8:8093065-11945856)x3	BLK, C8orf74 +23 more	Copy number gain	not provided	GPathogenic
Select item 635939	Single allele	FDFT1, NEIL2 +24 more	Duplication	Neurodevelopmental disorder	GLikely pathogenic
Select item 625668	GRCh37/hg19 8p23.3-22(chr8:194617-13947374)	DEFB130A, DEFB134 +75 more	Copy number gain	not provided	GPathogenic
Select item 625634	GRCh37/hg19 8p23.1(chr8:8403375-11805960)	BLK, C8orf74 +20 more	Copy number loss	Tetralogy of Fallot	GPathogenic
Select item 563553	GRCh37/hg19 8p23.3-21.2(chr8:1825200-24533193)x3	ADAM28, ADAM7 +136 more	Copy number gain	not provided	GPathogenic
Select item 563552	GRCh37/hg19 8p23.1-21.2(chr8:8770948-27079636)x3	DLC1, DMTN +111 more	Copy number gain	not provided	GPathogenic
Select item 563551	GRCh37/hg19 8p23.3-22(chr8:158048-15423270)x3	LONRF1, NEIL2 +76 more	Copy number gain	not provided	GPathogenic
Select item 563550	GRCh37/hg19 8p23.3-22(chr8:158048-13974319)x3	DEFB105A, USP17L1 +75 more	Copy number gain	not provided	GPathogenic

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