32448[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59707	GRCh38/hg38 10q24.31-26.3(chr10:100194215-132432797)x3	EDRF1-AS1, EDRF1-DT +1036 more	Copy number gain	See cases	GPathogenic
Select item 148679	GRCh38/hg38 10q24.31-26.3(chr10:100600492-133622588)x3	GSTO1, GSTO2 +1097 more	Copy number gain	See cases	GPathogenic
Select item 144206	GRCh38/hg38 10q25.1-26.3(chr10:108102587-133620674)x3	LOC126861107, LOC128598885 +802 more	Copy number gain	See cases	GPathogenic
Select item 57507	GRCh38/hg38 10q25.2-26.3(chr10:111313099-133620674)x3	ABLIM1, ABRAXAS2 +679 more	Copy number gain	See cases	GPathogenic
Select item 59728	GRCh38/hg38 10q26.11-26.3(chr10:117866565-133554210)x3	ABRAXAS2, ACADSB +514 more	Copy number gain	See cases	GPathogenic
Select item 153718	GRCh38/hg38 10q26.11-26.3(chr10:119707856-133613639)x3	LOC130004884, LOC130004885 +438 more	Copy number gain	See cases	GPathogenic
Select item 57403	GRCh38/hg38 10q26.12-26.3(chr10:120454430-133620674)x1	LOC130004881, LOC130004882 +418 more	Copy number loss	See cases	GPathogenic
Select item 150499	GRCh38/hg38 10q26.12-26.3(chr10:120970558-133622588)x1	LOC130005014, LOC130005015 +409 more	Copy number loss	See cases	GPathogenic
Select item 154374	GRCh38/hg38 10q26.13-26.3(chr10:121588992-133620674)x1	FUOM, GLRX3 +399 more	Copy number loss	See cases	GPathogenic
Select item 154670	GRCh38/hg38 10q26.13-26.3(chr10:121918547-133620674)x1	LOC130004911, LOC130004912 +395 more	Copy number loss	See cases	GPathogenic
Select item 57376	GRCh38/hg38 10q26.13-26.3(chr10:122265252-133620674)x1	ABRAXAS2, ACADSB +383 more	Copy number loss	See cases	GPathogenic
Select item 149417	GRCh38/hg38 10q26.13-26.3(chr10:122881207-133620609)x1	LOC130004994, LOC130004995 +361 more	Copy number loss	See cases	GPathogenic
Select item 58821	GRCh38/hg38 10q26.13-26.2(chr10:122973296-128210291)x1	ABRAXAS2, ACADSB +182 more	Copy number loss	See cases	GPathogenic
Select item 57447	GRCh38/hg38 10q26.13-26.3(chr10:123307835-133620674)x1	ABRAXAS2, ADAM12 +331 more	Copy number loss	See cases	GPathogenic
Select item 155477	GRCh38/hg38 10q26.13-26.3(chr10:123576393-133613639)x1	ABRAXAS2, ADAM12 +318 more	Copy number loss	See cases	GPathogenic
Select item 58822	GRCh38/hg38 10q26.13-26.3(chr10:123580320-133558988)x1	ABRAXAS2, ADAM12 +318 more	Copy number loss	See cases	GPathogenic
Select item 155556	GRCh38/hg38 10q26.13-26.3(chr10:123986772-133613639)x1	ABRAXAS2, ADAM12 +311 more	Copy number loss	See cases	GPathogenic
Select item 146789	GRCh38/hg38 10q26.13-26.3(chr10:124473108-133620609)x1	ABRAXAS2, ADAM12 +297 more	Copy number loss	See cases	GPathogenic
Select item 148580	GRCh38/hg38 10q26.13-26.3(chr10:124834858-133622588)x1	LOC130005026, LOC130005027 +257 more	Copy number loss	See cases	GPathogenic
Select item 150776	GRCh38/hg38 10q26.13-26.3(chr10:125021995-133620609)x1	LOC126861090, LOC126861091 +250 more	Copy number loss	See cases	GPathogenic
Select item 152830	GRCh38/hg38 10q26.13-26.3(chr10:125452905-133785874)x3	ADAM12, ADAM8 +241 more	Copy number gain	See cases	GPathogenic
Select item 144259	GRCh38/hg38 10q26.13-26.3(chr10:125657472-133620674)x1	ADAM12, ADAM8 +234 more	Copy number loss	See cases	GPathogenic
Select item 3061841	GRCh38/hg38 10q26.2-26.3(chr10:125976998-133427130)x1	LOC126861083, LOC126861084 +201 more	Copy number loss	Duane syndrome type 1 +1 more	GPathogenic
Select item 58823	GRCh38/hg38 10q26.2-26.3(chr10:126256585-133613938)x1	ADAM12, ADAM8 +207 more	Copy number loss	See cases	GPathogenic
Select item 144558	GRCh38/hg38 10q26.2-26.3(chr10:126730896-133620609)x1	LOC130005011, LOC130005012 +199 more	Copy number loss	See cases	GPathogenic
Select item 155548	GRCh38/hg38 10q26.2-26.3(chr10:126794646-133613639)x1	ADAM8, ADGRA1 +199 more	Copy number loss	See cases	GPathogenic
Select item 151106	GRCh38/hg38 10q26.2(chr10:127257925-127873894)x3	DOCK1, FOXI2 +4 more	Copy number gain	See cases	GLikely benign
Select item 155174	GRCh38/hg38 10q26.2-26.3(chr10:127435985-133622588)x1	ADAM8, ADGRA1 +192 more	Copy number loss	See cases	GPathogenic
Select item 153543	GRCh38/hg38 10q26.2-26.3(chr10:127507503-129782976)x3	AS-PTPRE, CLRN3 +34 more	Copy number gain	See cases	GUncertain significance
Select item 146431	GRCh38/hg38 10q26.2-26.3(chr10:127640489-132776585)x1	AS-PTPRE, BNIP3 +121 more	Copy number loss	See cases	GPathogenic
Select item 152433	GRCh38/hg38 10q26.2-26.3(chr10:127664168-133622588)x3	ADAM8, ADGRA1 +190 more	Copy number gain	See cases	GLikely pathogenic
Select item 3279594	NM_207426.3(FOXI2):c.4G>A (p.Ala2Thr)	FOXI2 (A2T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2540727	NM_207426.3(FOXI2):c.53C>T (p.Ala18Val)	FOXI2 (A18V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2411756	NM_207426.3(FOXI2):c.71C>T (p.Pro24Leu)	FOXI2 (P24L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3096409	NM_207426.3(FOXI2):c.74C>T (p.Pro25Leu)	FOXI2 (P25L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 771437	NM_207426.3(FOXI2):c.99C>A (p.Gly33=)	FOXI2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2622387	NM_207426.3(FOXI2):c.112G>A (p.Gly38Ser)	FOXI2 (G38S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2610759	NM_207426.3(FOXI2):c.132C>G (p.Asn44Lys)	FOXI2 (N44K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3096402	NM_207426.3(FOXI2):c.157T>C (p.Tyr53His)	FOXI2 (Y53H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2220236	NM_207426.3(FOXI2):c.182C>A (p.Pro61Gln)	FOXI2 (P61Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2331743	NM_207426.3(FOXI2):c.197C>G (p.Pro66Arg)	FOXI2 (P66R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2243553	NM_207426.3(FOXI2):c.233C>T (p.Pro78Leu)	FOXI2 (P78L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2344189	NM_207426.3(FOXI2):c.236G>A (p.Gly79Asp)	FOXI2 (G79D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2251702	NM_207426.3(FOXI2):c.254A>C (p.Asp85Ala)	FOXI2 (D85A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2287722	NM_207426.3(FOXI2):c.260C>A (p.Ala87Asp)	FOXI2 (A87D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3096403	NM_207426.3(FOXI2):c.293T>C (p.Leu98Pro)	FOXI2 (L98P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3279597	NM_207426.3(FOXI2):c.337A>G (p.Met113Val)	FOXI2 (M113V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2277576	NM_207426.3(FOXI2):c.355C>G (p.Pro119Ala)	FOXI2 (P119A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3279596	NM_207426.3(FOXI2):c.395T>A (p.Val132Glu)	FOXI2 (V132E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2337242	NM_207426.3(FOXI2):c.472G>C (p.Asp158His)	FOXI2 (D158H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3096405	NM_207426.3(FOXI2):c.502G>A (p.Asp168Asn)	FOXI2 (D168N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2529007	NM_207426.3(FOXI2):c.503A>G (p.Asp168Gly)	FOXI2 (D168G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2337194	NM_207426.3(FOXI2):c.503A>T (p.Asp168Val)	FOXI2 (D168V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2601735	NM_207426.3(FOXI2):c.551A>G (p.Lys184Arg)	FOXI2 (K184R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3096406	NM_207426.3(FOXI2):c.581A>G (p.Lys194Arg)	FOXI2 (K194R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2372801	NM_207426.3(FOXI2):c.599A>C (p.Glu200Ala)	FOXI2 (E200A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3096407	NM_207426.3(FOXI2):c.665C>T (p.Pro222Leu)	FOXI2 (P222L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2259360	NM_207426.3(FOXI2):c.668C>G (p.Pro223Arg)	FOXI2 (P223R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2248142	NM_207426.3(FOXI2):c.676G>T (p.Ala226Ser)	FOXI2 (A226S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2248143	NM_207426.3(FOXI2):c.677C>T (p.Ala226Val)	FOXI2 (A226V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3096408	NM_207426.3(FOXI2):c.722C>A (p.Ala241Asp)	FOXI2 (A241D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2316149	NM_207426.3(FOXI2):c.724G>A (p.Ala242Thr)	FOXI2 (A242T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3279593	NM_207426.3(FOXI2):c.772G>C (p.Gly258Arg)	FOXI2 (G258R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2215636	NM_207426.3(FOXI2):c.845A>G (p.His282Arg)	FOXI2 (H282R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3096410	NM_207426.3(FOXI2):c.872C>G (p.Pro291Arg)	FOXI2 (P291R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2369433	NM_207426.3(FOXI2):c.883C>T (p.Pro295Ser)	FOXI2 (P295S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3148924	GRCh37/hg19 10q26.12-26.3(chr10:122331280-135426386)x1	ABRAXAS2, ACADSB +80 more	Copy number loss	not provided	GPathogenic
Select item 3063175	GRCh37/hg19 10q26.13-26.3(chr10:125987494-135427143)x1	ABRAXAS2, ADAM12 +55 more	Copy number loss	not specified	GPathogenic
Select item 3063167	GRCh37/hg19 10q26.2(chr10:128334180-129645457)x1	DOCK1, FOXI2 +2 more	Copy number loss	not specified	GUncertain significance
Select item 3063164	GRCh37/hg19 10q23.33-26.3(chr10:95078198-135427143)x3	ABCC2, ABLIM1 +293 more	Copy number gain	not specified	GPathogenic
Select item 3063149	GRCh37/hg19 10q26.13-26.3(chr10:126127397-135427143)x1	ABRAXAS2, ADAM12 +54 more	Copy number loss	not specified	GPathogenic
Select item 2685391	GRCh37/hg19 10q26.2-26.3(chr10:128925940-135427143)x1	ADAM8, ADGRA1 +38 more	Copy number loss	not provided	GPathogenic
Select item 2684621	GRCh37/hg19 10q25.1-26.3(chr10:111447991-133435388)x3	ABLIM1, ABRAXAS2 +117 more	Copy number gain	not provided	GPathogenic
Select item 2671974	GRCh37/hg19 10q25.1-26.3(chr10:111378692-135427143)x3	ABLIM1, ABRAXAS2 +145 more	Copy number gain	Distal trisomy 10q	GPathogenic
Select item 2671973	GRCh37/hg19 10q26.2-26.3(chr10:128289206-135427143)x1	TCERG1L, TCERG1L-AS1 +38 more	Copy number loss	Distal 10q deletion syndrome	GPathogenic
Select item 2580338	GRCh37/hg19 10q26.13-26.3(chr10:124895517-135440296)x1	ABRAXAS2, ADAM12 +62 more	Copy number loss	Distal 10q deletion syndrome	GPathogenic
Select item 2574696	GRCh37/hg19 10p14-q26.3(chr10:11138692-135427143)	AGAP5, CRTAC1 +682 more	Copy number gain	Distal trisomy 10q	GPathogenic
Select item 2574693	GRCh37/hg19 10q26.13-26.3(chr10:123477898-135427143)	GLRX3, GPR26 +77 more	Copy number loss	Distal 10q deletion syndrome	GPathogenic
Select item 2574686	GRCh37/hg19 10p13-q26.3(chr10:12829206-135427143)	ABRAXAS2, CHCHD1 +673 more	Copy number loss	Distal 10q deletion syndrome	GPathogenic
Select item 2498475	GRCh37/hg19 10q26.12-26.3(chr10:122610933-135439810)x1	ABRAXAS2, ACADSB +80 more	Copy number loss	not provided	GPathogenic
Select item 1808847	GRCh37/hg19 10q26.13-26.3(chr10:126662496-133985966)x3	ADAM12, BCCIP +24 more	Copy number gain	not provided	GUncertain significance
Select item 1808782	GRCh37/hg19 10q26.2(chr10:129298285-129812992)x3	CLRN3, FOXI2 +2 more	Copy number gain	not provided	GUncertain significance
Select item 1808564	GRCh37/hg19 10q26.2(chr10:128766925-129645385)x1	DOCK1, FOXI2 +2 more	Copy number loss	not provided	GUncertain significance
Select item 1808323	GRCh37/hg19 10q26.2(chr10:129160805-129922819)x3	CLRN3, DOCK1 +4 more	Copy number gain	not provided	GUncertain significance
Select item 1807724	GRCh37/hg19 10q26.2-26.3(chr10:128877896-131842835)x1	CLRN3, DOCK1 +7 more	Copy number loss	not provided	GPathogenic
Select item 1711099	GRCh37/hg19 10q26.13-26.3(chr10:127198625-135427143)x3	ADAM12, ADAM8 +47 more	Copy number gain	See cases	GPathogenic
Select item 1711096	GRCh37/hg19 10q26.13-26.3(chr10:126914469-135427143)x1	ADAM12, ADAM8 +47 more	Copy number loss	See cases	GPathogenic
Select item 1527619	GRCh37/hg19 10q26.2(chr10:128876823-129645457)	DOCK1, FOXI2 +2 more	Copy number loss	not specified	GUncertain significance
Select item 1527616	GRCh37/hg19 10q26.2-26.3(chr10:128465436-135427143)	ADAM8, ADGRA1 +38 more	Copy number loss	not specified	GPathogenic
Select item 1527609	GRCh37/hg19 10q26.12-26.3(chr10:122343861-135427143)	FAM24A, FAM24B +80 more	Copy number loss	not specified	GPathogenic
Select item 1527608	GRCh37/hg19 10q26.12-26.3(chr10:122125760-135062972)	ABRAXAS2, ACADSB +68 more	Copy number gain	not specified	GLikely pathogenic
Select item 1527605	GRCh37/hg19 10q25.1-26.3(chr10:108455687-135427143)	ABLIM1, ABRAXAS2 +146 more	Copy number gain	not specified	GPathogenic
Select item 1180521	GRCh37/hg19 10q25.3-26.3(chr10:118247181-135435319)x3	ECHS1, EDRF1 +110 more	Copy number gain	not provided	GPathogenic
Select item 1172570	GRCh37/hg19 10q26.12-26.3(chr10:122785023-135457222)x1	FANK1, FGFR2 +79 more	Copy number loss	See cases	GPathogenic
Select item 1077185	Single allele	STK32C, SYCE1 +43 more	Deletion	Distal 10q deletion syndrome	GPathogenic
Select item 1047895	GRCh37/hg19 10q26.2-26.3(chr10:129483682-135434178)	LINC01166, CLRN3 +35 more	Copy number loss	Global developmental delay	GPathogenic
Select item 979909	GRCh37/hg19 10q26.2-26.3(chr10:129031265-135427143)x1	PPP2R2D, BNIP3 +37 more	Copy number loss	not provided	GPathogenic
Select item 979908	GRCh37/hg19 10q26.2(chr10:129303032-129814581)x3	PTPRE, CLRN3 +2 more	Copy number gain	not provided	GUncertain significance
Select item 815387	GRCh37/hg19 10q26.2-26.3(chr10:129381095-135427143)x1	ADAM8, ADGRA1 +35 more	Copy number loss	not provided	GPathogenic
Select item 815386	GRCh37/hg19 10q26.2(chr10:129048455-129594596)x3	FOXI2, DOCK1 +1 more	Copy number gain	not provided	GUncertain significance

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