LOC126862047[gene] - ClinVar

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Items: 38

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155306	GRCh38/hg38 14q11.2-32.33(chr14:20043514-106877229)x3	LOC125048431, LOC125048432 +3280 more	Copy number gain	See cases	GPathogenic
Select item 146230	GRCh38/hg38 14q11.2-32.33(chr14:20151149-106855263)x3	FSCB, FUT8 +3275 more	Copy number gain	See cases	GPathogenic
Select item 144518	GRCh38/hg38 14q24.3-32.33(chr14:73655772-106879298)x3	ABCD4, ACYP1 +1421 more	Copy number gain	See cases	GPathogenic
Select item 149176	GRCh38/hg38 14q24.3-32.33(chr14:77222795-106879298)x3	ADCK1, ADSS1 +1202 more	Copy number gain	See cases	GPathogenic
Select item 58526	GRCh38/hg38 14q31.3-32.33(chr14:86094030-106832642)x3	LOC130056672, LOC130056673 +1071 more	Copy number gain	See cases	GPathogenic
Select item 58527	GRCh38/hg38 14q32.12-32.33(chr14:91455861-106832642)x3	ADSS1, AHNAK2 +880 more	Copy number gain	See cases	GPathogenic
Select item 146638	GRCh38/hg38 14q32.12-32.33(chr14:92540983-104863658)x3	ADSS1, AK7 +662 more	Copy number gain	See cases	GPathogenic
Select item 146793	GRCh38/hg38 14q32.13-32.33(chr14:95524407-106879501)x1	ADSS1, AHNAK2 +754 more	Copy number loss	See cases	GPathogenic
Select item 57812	GRCh38/hg38 14q32.2(chr14:96920270-100178956)x1	BCL11B, CCDC85C +81 more	Copy number loss	See cases	GPathogenic
Select item 146074	GRCh38/hg38 14q32.2-32.33(chr14:97638520-106855263)x3	IGHD3-22, IGHD3-3 +670 more	Copy number gain	See cases	GPathogenic
Select item 57085	GRCh38/hg38 14q32.2-32.33(chr14:97938637-106855263)x1	LINC00677, LINC01550 +666 more	Copy number loss	See cases	GPathogenic
Select item 146615	GRCh38/hg38 14q32.2-32.33(chr14:99448012-106850609)x3	LOC130056627, LOC130056628 +653 more	Copy number gain	See cases	GPathogenic
Select item 153097	GRCh38/hg38 14q32.2-32.31(chr14:99794337-100944567)x1	BEGAIN, DEGS2 +96 more	Copy number loss	See cases	GPathogenic
Select item 144349	GRCh38/hg38 14q32.2-32.33(chr14:99831655-106855263)x1	ADSS1, AHNAK2 +631 more	Copy number loss	See cases	GPathogenic
Select item 154707	GRCh38/hg38 14q32.2-32.31(chr14:99930669-101022599)x1	BEGAIN, DEGS2 +130 more	Copy number loss	See cases	GPathogenic
Select item 1970989	NM_004434.3(EML1):c.2192-15T>C	EML1, LOC126862047	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2069082	NM_004434.3(EML1):c.2205A>G (p.Glu735=)	EML1, LOC126862047	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 714020	NM_004434.3(EML1):c.2214C>T (p.Asp738=)	EML1, LOC126862047	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 742466	NM_004434.3(EML1):c.2220C>G (p.Thr740=)	LOC126862047, EML1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1252021	NM_004434.3(EML1):c.2233G>A (p.Val745Ile)	EML1, LOC126862047 (V701I +3 more)	Single nucleotide variant (missense variant)	Band heterotopia of brain	GUncertain significance
Select item 774911	NM_004434.3(EML1):c.2246A>G (p.His749Arg)	EML1, LOC126862047 (H736R +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 1700359	NM_004434.3(EML1):c.2255A>C (p.Lys752Thr)	EML1, LOC126862047 (K708T +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2718759	NM_004434.3(EML1):c.2271C>T (p.Gly757=)	EML1, LOC126862047	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1805489	NM_004434.3(EML1):c.2272G>A (p.Asp758Asn)	EML1, LOC126862047 (D714N +3 more)	Single nucleotide variant (missense variant)	Band heterotopia of brain	GUncertain significance
Select item 2890871	NM_004434.3(EML1):c.2274C>T (p.Asp758=)	EML1, LOC126862047	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3088646	NM_004434.3(EML1):c.2275G>A (p.Asp759Asn)	EML1, LOC126862047 (D746N +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2644515	NM_004434.3(EML1):c.2310C>T (p.Cys770=)	EML1, LOC126862047	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2644516	NM_004434.3(EML1):c.2313G>A (p.Ser771=)	EML1, LOC126862047	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2312327	NM_004434.3(EML1):c.2321G>T (p.Arg774Met)	EML1, LOC126862047 (R793M +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2868211	NM_004434.3(EML1):c.2322+12G>A	EML1, LOC126862047	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1245098	NM_004434.3(EML1):c.2322+93C>T	EML1, LOC126862047	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1229588	NM_004434.3(EML1):c.2323-131T>A	EML1, LOC126862047	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2038113	NM_004434.3(EML1):c.2323-19C>T	EML1, LOC126862047	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2620643	NM_004434.3(EML1):c.2369T>C (p.Val790Ala)	EML1, LOC126862047 (V746A +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 727495	NM_004434.3(EML1):c.2406G>A (p.Thr802=)	EML1, LOC126862047	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2173911	NM_004434.3(EML1):c.2409C>T (p.Gly803=)	EML1, LOC126862047	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3088647	NM_004434.3(EML1):c.2437C>T (p.Arg813Cys)	EML1, LOC126862047 (R800C +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2644517	NM_004434.3(EML1):c.2438G>A (p.Arg813His)	EML1, LOC126862047 (R769H +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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Items: 38