ANKHD1[gene] - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 29

	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 2360672	NM_020690.6(ANKHD1-EIF4EBP3):c.518G>A (p.Arg173Gln)	ANKHD1, ANKHD1-EIF4EBP3 (R173Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3121004	NM_017747.3(ANKHD1):c.1373T>C (p.Ile458Thr)	ANKHD1, ANKHD1-EIF4EBP3 (I458T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2655738	NM_020690.6(ANKHD1-EIF4EBP3):c.1590T>C (p.Asp530=)	ANKHD1, ANKHD1-EIF4EBP3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3121009	NM_017747.3(ANKHD1):c.2030A>G (p.Lys677Arg)	ANKHD1, ANKHD1-EIF4EBP3 (K677R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1228896	NM_017747.3(ANKHD1):c.3551+277A>G	ANKHD1, ANKHD1-EIF4EBP3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3121012	NM_017747.3(ANKHD1):c.3823G>A (p.Val1275Ile)	ANKHD1, ANKHD1-EIF4EBP3 (V1275I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2224875	NM_020690.6(ANKHD1-EIF4EBP3):c.4663C>T (p.Pro1555Ser)	ANKHD1, ANKHD1-EIF4EBP3 (P1555S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2578387	NM_017747.3(ANKHD1):c.5390dup (p.Thr1798fs)	ANKHD1, ANKHD1-EIF4EBP3 (T1798fs)	Duplication (frameshift variant)	not provided	Gnot provided
Select item 3235873	NM_017747.3(ANKHD1):c.6673_6682del (p.Asn2225fs)	ANKHD1, ANKHD1-EIF4EBP3 (N2225fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 2322571	NM_020690.6(ANKHD1-EIF4EBP3):c.6791A>G (p.Asp2264Gly)	ANKHD1, ANKHD1-EIF4EBP3 (D2264G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 775225	NM_017747.3(ANKHD1):c.7156C>G (p.Pro2386Ala)	ANKHD1, ANKHD1-EIF4EBP3 (P2386A)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2535098	NM_017747.3(ANKHD1):c.7591C>T (p.Pro2531Ser)	ANKHD1, ANKHD1-EIF4EBP3 (P2531S)	Single nucleotide variant (missense variant +1 more)	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	PCDHB13, PCDHB14 +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	CCNI2, FAM13B +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

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 29