ClinVar for Gene (Select 10417) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3322340	NM_012445.4(SPON2):c.860G>C (p.Gly287Ala)	SPON2 (G287A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3322339	NM_012445.4(SPON2):c.898A>C (p.Ser300Arg)	SPON2 (S300R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3322338	NM_012445.4(SPON2):c.313G>T (p.Ala105Ser)	SPON2 (A105S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3322337	NM_012445.4(SPON2):c.593C>T (p.Ser198Phe)	SPON2 (S198F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3322336	NM_012445.4(SPON2):c.196C>A (p.Pro66Thr)	SPON2 (P66T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3322335	NM_012445.4(SPON2):c.676T>C (p.Tyr226His)	SPON2 (Y226H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3169320	NM_012445.4(SPON2):c.967G>A (p.Ala323Thr)	SPON2 (A323T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3169319	NM_012445.4(SPON2):c.814C>T (p.Pro272Ser)	SPON2 (P272S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3169318	NM_012445.4(SPON2):c.763G>A (p.Ala255Thr)	SPON2 (A255T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3169317	NM_012445.4(SPON2):c.713G>A (p.Arg238Lys)	SPON2 (R238K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3169316	NM_012445.4(SPON2):c.434G>A (p.Arg145Lys)	SPON2 (R145K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3169315	NM_012445.4(SPON2):c.413C>T (p.Ala138Val)	SPON2 (A138V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3169314	NM_012445.4(SPON2):c.32G>T (p.Gly11Val)	SPON2 (G11V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3169313	NM_012445.4(SPON2):c.322A>G (p.Lys108Glu)	SPON2 (K108E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3169312	NM_012445.4(SPON2):c.181C>T (p.Pro61Ser)	SPON2 (P61S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062809	GRCh37/hg19 4p16.3(chr4:68346-3122209)x1	ADD1, ATP5ME +46 more	Copy number loss	not specified	GPathogenic
Select item 3062796	GRCh37/hg19 4p16.3(chr4:769757-2009467)x3	CPLX1, CRIPAK +20 more	Copy number gain	not specified	GLikely pathogenic
Select item 3062783	GRCh37/hg19 4p16.3-15.31(chr4:68345-19103550)x1	ABLIM2, ACOX3 +140 more	Copy number loss	not specified	GPathogenic
Select item 3062781	GRCh37/hg19 4p16.3-15.33(chr4:68345-14083766)x1	ABLIM2, ACOX3 +120 more	Copy number loss	not specified	GPathogenic
Select item 3062779	GRCh37/hg19 4p16.3-16.2(chr4:68345-4611819)x1	ADD1, ADRA2C +58 more	Copy number loss	not specified	GPathogenic
Select item 3062771	GRCh37/hg19 4p16.3-16.1(chr4:68345-7923907)x1	ADD1, ADRA2C +82 more	Copy number loss	not specified	GPathogenic
Select item 3062770	GRCh37/hg19 4p16.3(chr4:68345-3510024)x1	ADD1, ATP5ME +51 more	Copy number loss	not specified	GPathogenic
Select item 3062759	GRCh37/hg19 4p16.3-15.31(chr4:68345-21143236)x1	ABLIM2, ACOX3 +143 more	Copy number loss	not specified	GPathogenic
Select item 3062750	GRCh37/hg19 4p16.3-11(chr4:68345-49089361)x3	ABLIM2, ACOX3 +226 more	Copy number gain	not specified	GPathogenic
Select item 3024630	GRCh37/hg19 4p16.3-15.33(chr4:85622-13316942)x1	MSANTD1, MSX1 +117 more	Copy number loss	not provided	GPathogenic
Select item 2685953	GRCh37/hg19 4p16.3(chr4:444267-1325962)x3	ATP5ME, CPLX1 +16 more	Copy number gain	not provided	GUncertain significance
Select item 2685952	GRCh37/hg19 4p16.3-16.1(chr4:68346-7171784)x3	ADD1, ADRA2C +79 more	Copy number gain	not provided	GPathogenic
Select item 2685098	GRCh37/hg19 4p16.3(chr4:68346-2681414)x1	NELFA, NICOL1 +39 more	Copy number loss	not provided	GPathogenic
Select item 2654545	NM_012445.4(SPON2):c.315G>T (p.Ala105=)	SPON2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2654544	NM_012445.4(SPON2):c.762C>T (p.Pro254=)	SPON2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2654543	NM_012445.4(SPON2):c.811+7_811+8del	SPON2	Deletion (intron variant)	not provided	GLikely benign
Select item 2583026	GRCh37/hg19 4p16.3-15.32(chr4:85622-16900108)x1	USP17L24, USP17L25 +132 more	Copy number loss	not provided	GPathogenic
Select item 2579174	GRCh38/hg38 4p16.3-q12(chr4:85624-57073230)x3	LOC129992561, LOC129992562 +1409 more	Copy number gain	Neurodevelopmental disorder	GPathogenic
Select item 2579172	GRCh38/hg38 4p16.3-11(chr4:1-49062177)x3	LOC123477714, LOC123477715 +1267 more	Copy number gain	Neurodevelopmental disorder	GPathogenic
Select item 2574695	GRCh37/hg19 4p16.3-15.1(chr4:68345-34512694)	RNF212, RNF4 +162 more	Copy number gain	4p16.3 microduplication syndrome	GPathogenic
Select item 2568484	NM_012445.4(SPON2):c.383C>T (p.Ala128Val)	SPON2 (A128V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2475670	NM_012445.4(SPON2):c.233G>T (p.Ser78Ile)	SPON2 (S78I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2474170	NM_012445.4(SPON2):c.607G>T (p.Ala203Ser)	SPON2 (A203S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2468438	NM_012445.4(SPON2):c.845T>C (p.Leu282Pro)	SPON2 (L282P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2455827	NM_012445.4(SPON2):c.685C>T (p.Arg229Trp)	SPON2 (R229W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2424606	NC_000004.11:g.(?_493125)_(3495228_?)dup	FGFRL1, GAK +46 more	Duplication	Fibrous dysplasia of jaw	GUncertain significance
Select item 2422458	NC_000004.11:g.(?_493125)_(1843544_?)del	ATP5ME, CPLX1 +25 more	Deletion	not provided	GUncertain significance
Select item 2402402	NM_012445.4(SPON2):c.823C>T (p.Pro275Ser)	SPON2 (P275S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2376949	NM_012445.4(SPON2):c.782G>A (p.Arg261Lys)	SPON2 (R261K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2324436	NM_012445.4(SPON2):c.40C>T (p.Leu14Phe)	SPON2 (L14F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2318587	NM_012445.4(SPON2):c.32G>A (p.Gly11Asp)	SPON2 (G11D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2305063	NM_012445.4(SPON2):c.460C>G (p.Arg154Gly)	SPON2 (R154G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2302271	NM_012445.4(SPON2):c.591C>G (p.Phe197Leu)	SPON2 (F197L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2273107	NM_012445.4(SPON2):c.530G>A (p.Arg177Gln)	SPON2 (R177Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2247241	NM_012445.4(SPON2):c.972G>C (p.Glu324Asp)	SPON2 (E324D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2243128	NM_012445.4(SPON2):c.100A>G (p.Ile34Val)	SPON2 (I34V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2229168	NM_012445.4(SPON2):c.962A>T (p.Glu321Val)	SPON2 (E321V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1808621	GRCh37/hg19 4p16.3-15.33(chr4:1-12785001)x1	ABLIM2, ACOX3 +117 more	Copy number loss	not provided	GPathogenic
Select item 1808616	GRCh37/hg19 4p16.3(chr4:963688-2913553)x3	ADD1, C4orf48 +28 more	Copy number gain	not provided	GLikely pathogenic
Select item 1808552	GRCh37/hg19 4p16.3-15.33(chr4:68346-12369983)x1	ABLIM2, ACOX3 +117 more	Copy number loss	not provided	GPathogenic
Select item 1808173	GRCh37/hg19 4p16.3(chr4:1180181-2009278)x3	CRIPAK, CTBP1 +12 more	Copy number gain	not provided	GUncertain significance
Select item 1807847	GRCh37/hg19 4p16.3(chr4:68346-2437290)x1	ATP5ME, C4orf48 +37 more	Copy number loss	not provided	GPathogenic
Select item 1711164	GRCh37/hg19 4p16.3-11(chr4:68345-49089361)x3	ABLIM2, ACOX3 +226 more	Copy number gain	See cases	GPathogenic
Select item 1707444	GRCh37/hg19 4p16.3-15.31(chr4:68345-20964575)x1	ABLIM2, ACOX3 +143 more	Copy number loss	See cases	GPathogenic
Select item 1707423	GRCh37/hg19 4p16.3-16.2(chr4:68345-5579467)x1	ADD1, ADRA2C +63 more	Copy number loss	See cases	GPathogenic
Select item 1704651	GRCh37/hg19 4p16.3-12(chr4:114784-47569569)x3	ABLIM2, ACOX3 +212 more	Copy number gain	FETAL DEMISE	GPathogenic
Select item 1703660	GRCh37/hg19 4p16.3(chr4:68345-1512353)	ATP5ME, CPLX1 +23 more	Copy number loss	Global developmental delay	GLikely pathogenic
Select item 1703575	Single allele	FAM53A, PIGG +29 more	Complex	Heart, malformation of	GPathogenic
Select item 1459277	NC_000004.11:g.(?_493125)_(2065854_?)del	ATP5ME, CPLX1 +29 more	Deletion	not provided	GPathogenic
Select item 1421534	NC_000004.11:g.(?_493125)_(3495228_?)del	HAUS3, HGFAC +46 more	Deletion	Fibrous dysplasia of jaw	GUncertain significance
Select item 1341163	GRCh37/hg19 4p16.3(chr4:68345-1675143)x1	ATP5ME, CPLX1 +24 more	Copy number loss	not provided	GPathogenic
Select item 1341071	GRCh37/hg19 4p16.3-15.31(chr4:68345-20587167)x1	HGFAC, UVSSA +141 more	Copy number loss	not provided	GPathogenic
Select item 1180546	GRCh37/hg19 4p16.3-15.1(chr4:69671-29702595)x3	FGFBP2, SMIM20 +161 more	Copy number gain	not provided	GPathogenic
Select item 1180545	GRCh37/hg19 4p16.3-15.31(chr4:68598-18912995)x1	RGS12, RNF212 +140 more	Copy number loss	not provided	GPathogenic
Select item 1047903	GRCh37/hg19 4p16.3(chr4:388344-3872380)	HGFAC, HTT +48 more	Copy number loss	Generalized hypotonia +2 more	GPathogenic
Select item 979468	GRCh37/hg19 4p16.3-16.2(chr4:68345-5831521)x1	ZFYVE28, CRMP1 +65 more	Copy number loss	not provided	GPathogenic
Select item 979467	GRCh37/hg19 4p16.3-16.2(chr4:68345-5046326)x1	HGFAC, NOP14 +60 more	Copy number loss	not provided	GPathogenic
Select item 979463	GRCh37/hg19 4p16.3(chr4:794088-1179515)x1	IDUA, DGKQ +7 more	Copy number loss	not provided	GUncertain significance
Select item 979459	GRCh37/hg19 4p16.3(chr4:68345-2503033)x3	HAUS3, GAK +38 more	Copy number gain	not provided	GPathogenic
Select item 979458	GRCh37/hg19 4p16.3(chr4:68345-2137211)x1	POLN, CPLX1 +34 more	Copy number loss	not provided	GPathogenic
Select item 979456	GRCh37/hg19 4p16.3(chr4:1-1328868)x1	ZNF718, RNF212 +20 more	Copy number loss	not provided	GPathogenic
Select item 929396	GRCh37/hg19 4p16.3-11(chr4:49450-49620898)x3	KLF3, KLHL5 +226 more	Copy number gain	See cases	GPathogenic
Select item 816497	GRCh37/hg19 4p16.3-15.2(chr4:49450-24280482)x1	ADD1, ABLIM2 +146 more	Copy number loss	See cases	GPathogenic
Select item 814524	GRCh37/hg19 4p16.3-16.1(chr4:68345-10312798)x1	ABLIM2, ACOX3 +114 more	Copy number loss	not provided	GPathogenic
Select item 814523	GRCh37/hg19 4p16.3-16.1(chr4:68345-6984507)x1	ADD1, ADRA2C +76 more	Copy number loss	not provided	GPathogenic
Select item 814522	GRCh37/hg19 4p16.3-16.1(chr4:68345-8731855)x1	ABLIM2, ACOX3 +90 more	Copy number loss	not provided	GPathogenic
Select item 814521	GRCh37/hg19 4p16.3-16.1(chr4:68345-9768141)x1	ABLIM2, ACOX3 +111 more	Copy number loss	not provided	GPathogenic
Select item 814520	GRCh37/hg19 4p16.3-15.2(chr4:68345-27423424)x3	ABLIM2, ACOX3 +161 more	Copy number gain	not provided	GPathogenic
Select item 814518	GRCh37/hg19 4p16.3(chr4:68345-2786584)x1	NKX1-1, MXD4 +40 more	Copy number loss	not provided	GPathogenic
Select item 787269	NM_012445.4(SPON2):c.693G>A (p.Lys231=)	SPON2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 786030	NM_012445.4(SPON2):c.812-4C>T	SPON2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 737377	NM_012445.4(SPON2):c.861A>G (p.Gly287=)	SPON2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 723005	NM_012445.4(SPON2):c.812-10C>T	SPON2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 687798	GRCh37/hg19 4p16.3(chr4:1153214-1416920)x3	CRIPAK, CTBP1 +4 more	Copy number gain	not provided	GUncertain significance
Select item 686294	GRCh37/hg19 4p16.3(chr4:68345-4051616)x3	ADD1, ADRA2C +52 more	Copy number gain	not provided	GPathogenic
Select item 625664	GRCh37/hg19 4p16.3-16.1(chr4:75742-8672411)	JAKMIP1, KIAA0232 +90 more	Copy number loss	4p partial monosomy syndrome	GPathogenic
Select item 562876	GRCh37/hg19 4p16.3(chr4:917519-1385258)x3	GAK, RNF212 +9 more	Copy number gain	not provided	GUncertain significance
Select item 562874	GRCh37/hg19 4p16.3-11(chr4:68345-49089361)x3	GABRA2, GABRA4 +226 more	Copy number gain	not provided	GPathogenic
Select item 560032	Single allele	ATP5ME, CPLX1 +23 more	Duplication	not provided	GUncertain significance
Select item 443978	GRCh37/hg19 4p16.3-16.1(chr4:68345-8731855)x3	ABLIM2, ACOX3 +90 more	Copy number gain	See cases	GLikely pathogenic
Select item 443200	GRCh37/hg19 4p16.3(chr4:68345-1677853)x1	ATP5ME, CPLX1 +24 more	Copy number loss	See cases	GUncertain significance
Select item 443045	GRCh37/hg19 4p16.3-15.32(chr4:68345-15973383)x1	NELFA, NICOL1 +130 more	Copy number loss	See cases	GPathogenic
Select item 443042	GRCh37/hg19 4p16.3(chr4:68345-4044985)x1	ADD1, ADRA2C +52 more	Copy number loss	See cases	GPathogenic
Select item 442536	GRCh37/hg19 4p16.3-15.33(chr4:68345-13770107)x1	ABLIM2, ACOX3 +120 more	Copy number loss	See cases	GPathogenic
Select item 442291	GRCh37/hg19 4p16.3(chr4:68345-3713599)x3	ADD1, ATP5ME +51 more	Copy number gain	See cases	GLikely pathogenic

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