3059[HGNC] - ClinVar

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Items: 26

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59672	GRCh38/hg38 5q21.3-33.2(chr5:106619588-156124387)x1	ABLIM3, ACSL6 +1672 more	Copy number loss	See cases	GPathogenic
Select item 149858	GRCh38/hg38 5q23.3-33.2(chr5:129847794-153353546)x3	LOC129994992, LOC129994993 +1157 more	Copy number gain	See cases	GPathogenic
Select item 57483	GRCh38/hg38 5q23.3-33.2(chr5:130860928-155321811)x3	ABLIM3, ACSL6 +1218 more	Copy number gain	See cases	GPathogenic
Select item 145330	GRCh38/hg38 5q31.2-31.3(chr5:137836682-140696361)x3	ECSCR, EGR1 +224 more	Copy number gain	See cases	GPathogenic
Select item 58388	GRCh38/hg38 5q31.2-32(chr5:138871137-145812309)x1	ANKHD1, ANKHD1-DT +377 more	Copy number loss	See cases	GPathogenic
Select item 2281512	NM_001945.3(HBEGF):c.592G>A (p.Glu198Lys)	HBEGF (E198K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104402	NM_001945.3(HBEGF):c.535G>A (p.Val179Met)	HBEGF (V179M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2568593	NM_001945.3(HBEGF):c.328C>T (p.Arg110Trp)	HBEGF (R110W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2389544	NM_001945.3(HBEGF):c.325C>T (p.Leu109Phe)	HBEGF (L109F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2617607	NM_001945.3(HBEGF):c.211C>A (p.Leu71Ile)	HBEGF (L71I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2623454	NM_001945.3(HBEGF):c.182T>C (p.Val61Ala)	HBEGF (V61A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2471166	NM_001945.3(HBEGF):c.119C>T (p.Pro40Leu)	HBEGF (P40L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3068093	NM_001945.3(HBEGF):c.46+2T>C	HBEGF	Single nucleotide variant (splice donor variant)	not provided	GUncertain significance
Select item 2284223	NM_001945.3(HBEGF):c.37C>A (p.Leu13Met)	HBEGF (L13M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2425421	NC_000005.9:g.(?_136957787)_(140078137_?)dup	ANKHD1, ANKHD1-EIF4EBP3 +53 more	Duplication	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome	GUncertain significance
Select item 1330185	GRCh37/hg19 5q31.2-31.3(chr5:139493717-140517454)x1	PCDHA2, PCDHA6 +44 more	Copy number loss	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome	GPathogenic
Select item 1020265	NC_000005.9:g.(?_136633338)_(140998481_?)dup	PCDHA8, PCDHA9 +116 more	Duplication	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome	GUncertain significance
Select item 686048	GRCh37/hg19 5q31.2-31.3(chr5:139447779-140047037)x3	ANKHD1, ANKHD1-EIF4EBP3 +15 more	Copy number gain	not provided	GUncertain significance
Select item 635930	Single allele	C5orf24, C5orf34 +600 more	Deletion	Neurodevelopmental disorder	GUncertain significance
Select item 563111	GRCh37/hg19 5q31.2-31.3(chr5:139147238-141540491)x1	PCDHA13, PCDHGB5 +92 more	Copy number loss	not provided	GPathogenic
Select item 457359	NC_000005.9:g.(?_86400000)_(154000000_?)del	AFAP1L1, AFF4 +385 more	Deletion	Familial adenomatous polyposis 1 +1 more	GPathogenic
Select item 442431	GRCh37/hg19 5p15.1-q35.2(chr5:17628741-176575720)x1	DHFR, DHX29 +738 more	Copy number loss	See cases	GPathogenic
Select item 441920	GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)	ABLIM3, ACOT12 +870 more	Copy number gain	See cases	GPathogenic
Select item 441919	GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)x3	ABLIM3, ACOT12 +870 more	Copy number gain	See cases	GPathogenic
Select item 425542	GRCh37/hg19 5q15-35.3(chr5:94844077-178830410)x3	ARL10, ARL14EPL +511 more	Copy number gain	not provided	GLikely benign
Select item 394550	GRCh37/hg19 5q21.3-35.3(chr5:106716357-180687338)x3	HRH2, HSD17B4 +520 more	Copy number gain	See cases	GPathogenic

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Items: 26