253738[geneid] - 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 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	CLRN3, DOCK1 +201 more	Copy number loss	Hypotonia, ataxia, and delayed development syndrome +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 155174	GRCh38/hg38 10q26.2-26.3(chr10:127435985-133622588)x1	ADAM8, ADGRA1 +192 more	Copy number loss	See cases	GPathogenic
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 149102	GRCh38/hg38 10q26.2-26.3(chr10:127849717-133622588)x1	ADAM8, ADGRA1 +189 more	Copy number loss	See cases	GPathogenic
Select item 149101	GRCh38/hg38 10q26.2-26.3(chr10:128549913-133622588)x1	LOC130004973, LOC130004974 +170 more	Copy number loss	See cases	GPathogenic
Select item 147736	GRCh38/hg38 10q26.3(chr10:128872419-133564028)x3	ADAM8, ADGRA1 +168 more	Copy number gain	See cases	GPathogenic
Select item 57343	GRCh38/hg38 10q26.3(chr10:129324053-129974086)x3	EBF3, LOC107984281 +11 more	Copy number gain	See cases	GUncertain significance
Select item 148897	GRCh38/hg38 10q26.3(chr10:129427520-133622588)x1	ADAM8, ADGRA1 +165 more	Copy number loss	See cases	GPathogenic
Select item 146234	GRCh38/hg38 10q26.3(chr10:129549258-133620674)x1	LOC130004974, LOC130004975 +163 more	Copy number loss	See cases	GPathogenic
Select item 58825	GRCh38/hg38 10q26.3(chr10:129673966-133613938)x1	ADAM8, ADGRA1 +158 more	Copy number loss	See cases	GPathogenic
Select item 58827	GRCh38/hg38 10q26.3(chr10:129763050-131379342)x1	C10orf143, EBF3 +28 more	Copy number loss	See cases	GPathogenic
Select item 1696154	NM_001375380.1(EBF3):c.*10T>C	EBF3 (M524T +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 792335	NM_001375380.1(EBF3):c.*8A>T	EBF3, LOC107984281	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2441164	NM_001375380.1(EBF3):c.1875A>G (p.Leu625=)	EBF3 (M516V +3 more)	Single nucleotide variant (missense variant +1 more)	Hypotonia, ataxia, and delayed development syndrome	GUncertain significance
Select item 3065799	NM_001375380.1(EBF3):c.1873C>T (p.Leu625=)	EBF3 (A515V +3 more)	Single nucleotide variant (missense variant +1 more)	Hypotonia, ataxia, and delayed development syndrome	GUncertain significance
Select item 975540	NM_001375380.1(EBF3):c.1759+8T>G	EBF3	Single nucleotide variant (intron variant)	Intellectual disability	GLikely benign
Select item 2479019	NM_001375380.1(EBF3):c.1749T>G (p.Asn583Lys)	EBF3 (N538K +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3086836	NM_001375380.1(EBF3):c.1744G>A (p.Gly582Arg)	EBF3 (G537R +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 755545	NM_001375380.1(EBF3):c.1743C>T (p.Asn581=)	EBF3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 728632	NM_001375380.1(EBF3):c.1737C>T (p.Ser579=)	EBF3	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 1068622	NM_001375380.1(EBF3):c.1696del (p.Val566fs)	EBF3 (V494fs +3 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 789310	NM_001375380.1(EBF3):c.1695C>T (p.Pro565=)	EBF3	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 2429837	NM_001375380.1(EBF3):c.1593_1605del (p.Ser532fs)	EBF3 (S460fs +1 more)	Deletion (frameshift variant +1 more)	Autism spectrum disorder	GUncertain significance
Select item 2637393	NM_001375380.1(EBF3):c.1457_1460del (p.Val486fs)	EBF3 (V477fs +1 more)	Deletion (frameshift variant +1 more)	EBF3-related disorder	GUncertain significance
Select item 2674611	NM_001375380.1(EBF3):c.1454_1455del (p.Thr485fs)	EBF3 (T476fs +1 more)	Microsatellite (frameshift variant +1 more)	Hypotonia, ataxia, and delayed development syndrome	GLikely pathogenic
Select item 421178	NM_001375380.1(EBF3):c.1429_1441del (p.Thr477fs)	EBF3 (T468fs +1 more)	Deletion (frameshift variant +1 more)	not provided	GPathogenic
Select item 3086835	NM_001375380.1(EBF3):c.1436A>G (p.Gln479Arg)	EBF3 (Q470R +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2442003	NM_001375380.1(EBF3):c.1435C>T (p.Gln479Ter)	EBF3 (Q470* +1 more)	Single nucleotide variant (nonsense +1 more)	Hypotonia, ataxia, and delayed development syndrome	GPathogenic
Select item 1172640	NM_001375380.1(EBF3):c.1408C>T (p.Arg470Ter)	EBF3 (R461* +1 more)	Single nucleotide variant (nonsense +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1306590	NM_001375380.1(EBF3):c.1381A>G (p.Ser461Gly)	EBF3 (S452G +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2287325	NM_001375380.1(EBF3):c.1373-2del	EBF3	Deletion (intron variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3033969	NM_001375380.1(EBF3):c.1373-10A>G	EBF3	Single nucleotide variant (intron variant)	EBF3-related disorder	GLikely benign
Select item 1685002	NM_001375380.1(EBF3):c.1373-11del	EBF3	Deletion (intron variant)	not specified	GBenign
Select item 1029993	NM_001375380.1(EBF3):c.1372+3A>G	EBF3	Single nucleotide variant (intron variant)	Hypotonia, ataxia, and delayed development syndrome	GUncertain significance
Select item 2640971	NM_001375380.1(EBF3):c.1365C>T (p.Asn455=)	EBF3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 620233	NM_001375380.1(EBF3):c.1357C>T (p.Gln453Ter)	EBF3 (Q444* +1 more)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 2640972	NM_001375380.1(EBF3):c.1353G>A (p.Thr451=)	EBF3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1184357	NM_001375380.1(EBF3):c.1351A>G (p.Thr451Ala)	EBF3 (T442A +1 more)	Single nucleotide variant (missense variant)	Hypotonia, ataxia, and delayed development syndrome	GUncertain significance
Select item 2573011	NM_001375380.1(EBF3):c.1346C>G (p.Ser449Ter)	EBF3 (S440* +1 more)	Single nucleotide variant (nonsense)	Hypotonia, ataxia, and delayed development syndrome	GPathogenic
Select item 1683518	NM_001375380.1(EBF3):c.1342G>A (p.Val448Met)	EBF3 (V439M +1 more)	Single nucleotide variant (missense variant)	Hypotonia, ataxia, and delayed development syndrome	GUncertain significance
Select item 3053093	NM_001375380.1(EBF3):c.1335C>T (p.Ala445=)	EBF3	Single nucleotide variant (synonymous variant)	EBF3-related disorder	GLikely benign
Select item 3068910	NM_001375380.1(EBF3):c.1321AGC[1] (p.Ser442del)	EBF3 (S433del +1 more)	Microsatellite (inframe_deletion)	not specified	GUncertain significance
Select item 741694	NM_001375380.1(EBF3):c.1317C>T (p.Ser439=)	EBF3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2535069	NM_001375380.1(EBF3):c.1306G>A (p.Gly436Ser)	EBF3 (G436S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3086834	NM_001375380.1(EBF3):c.1295C>T (p.Thr432Met)	EBF3 (T423M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 521410	NM_001375380.1(EBF3):c.1291C>T (p.His431Tyr)	EBF3 (H422Y +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2307882	NM_001375380.1(EBF3):c.1282A>G (p.Asn428Asp)	EBF3 (N428D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1389412	NM_001375380.1(EBF3):c.1274T>C (p.Leu425Pro)	EBF3 (L416P +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 751046	NM_001375380.1(EBF3):c.1272C>T (p.Thr424=)	EBF3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 844228	NM_001375380.1(EBF3):c.1259_1260insT (p.Gln421fs)	EBF3 (Q412fs +1 more)	Insertion (frameshift variant)	not provided	GPathogenic
Select item 2288310	NM_001375380.1(EBF3):c.1221C>G (p.Asp407Glu)	EBF3 (D398E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3044256	NM_001375380.1(EBF3):c.1218G>A (p.Ala406=)	EBF3	Single nucleotide variant (synonymous variant)	EBF3-related disorder	GLikely benign
Select item 620273	NM_001375380.1(EBF3):c.1210C>T (p.Arg404Ter)	EBF3 (R395* +1 more)	Single nucleotide variant (nonsense)	EBF3-related disorder +1 more	GPathogenic/Likely pathogenic
Select item 3030072	NM_001375380.1(EBF3):c.1200C>A (p.Ile400=)	EBF3	Single nucleotide variant (synonymous variant)	EBF3-related disorder	GLikely benign
Select item 2585176	NM_001375380.1(EBF3):c.1185_1186del (p.His395fs)	EBF3 (H395fs +1 more)	Microsatellite (frameshift variant)	Hypotonia, ataxia, and delayed development syndrome	GLikely pathogenic
Select item 2258072	NM_001375380.1(EBF3):c.1172_1177del (p.Tyr391_Met393delinsLeu)	EBF3	Deletion (inframe_indel)	Inborn genetic diseases	GUncertain significance
Select item 3086833	NM_001375380.1(EBF3):c.1155C>G (p.Asp385Glu)	EBF3 (D385E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2530046	NM_001375380.1(EBF3):c.1153G>C (p.Asp385His)	EBF3 (D376H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1029992	NM_001375380.1(EBF3):c.1151C>T (p.Ala384Val)	EBF3 (A384V +1 more)	Single nucleotide variant (missense variant)	Hypotonia, ataxia, and delayed development syndrome	GLikely pathogenic
Select item 751691	NM_001375380.1(EBF3):c.1129-7C>G	EBF3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 802637	NM_001375380.1(EBF3):c.1128+1G>C	EBF3	Single nucleotide variant (splice donor variant)	Hypotonia, ataxia, and delayed development syndrome	GPathogenic
Select item 212723	NM_001375380.1(EBF3):c.1128+1G>T	EBF3	Single nucleotide variant (splice donor variant)	Hypotonia +1 more	GPathogenic
Select item 1690609	NM_001375380.1(EBF3):c.1102C>G (p.Pro368Ala)	EBF3 (P359A +1 more)	Single nucleotide variant (missense variant)	See cases	GUncertain significance
Select item 985828	NM_001375380.1(EBF3):c.1081C>T (p.Gln361Ter)	EBF3 (Q352* +1 more)	Single nucleotide variant (nonsense)	Inborn genetic diseases	GPathogenic
Select item 1037347	NM_001375380.1(EBF3):c.1067G>A (p.Gly356Asp)	EBF3 (G356D +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3047781	NM_001375380.1(EBF3):c.1040-7del	EBF3	Deletion (intron variant)	EBF3-related disorder	GLikely benign
Select item 975541	NM_001375380.1(EBF3):c.1038C>T (p.Thr346=)	EBF3	Single nucleotide variant (synonymous variant)	EBF3-related disorder	GLikely benign
Select item 445439	NM_001375380.1(EBF3):c.1038C>G (p.Thr346=)	EBF3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1678285	NM_001375380.1(EBF3):c.1032C>T (p.Val344=)	EBF3	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2579378	NM_001375380.1(EBF3):c.1013G>T (p.Gly338Val)	EBF3 (G329V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2536818	NM_001375380.1(EBF3):c.983T>A (p.Leu328His)	EBF3 (L319H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely pathogenic
Select item 2504454	NM_001375380.1(EBF3):c.982C>T (p.Leu328Phe)	EBF3 (L319F +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1690414	NM_001375380.1(EBF3):c.971_978dup (p.Thr327delinsSerLysTer)	EBF3	Duplication (nonsense)	See cases	GLikely pathogenic
Select item 2688997	NM_001375380.1(EBF3):c.967G>A (p.Val323Ile)	EBF3 (V314I +1 more)	Single nucleotide variant (missense variant)	Hypotonia, ataxia, and delayed development syndrome	GUncertain significance
Select item 3057294	NM_001375380.1(EBF3):c.966C>T (p.Gly322=)	EBF3	Single nucleotide variant (synonymous variant)	EBF3-related disorder	GLikely benign

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