ClinVar for Gene (Select 54882) - ClinVar

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Links from Gene

Items: 29

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 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 2578387	NM_017747.3(ANKHD1):c.5390dup (p.Thr1798fs)	ANKHD1, ANKHD1-EIF4EBP3 (T1798fs)	Duplication (frameshift variant)	not provided	Gnot provided
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 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 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 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 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 1228896	NM_017747.3(ANKHD1):c.3551+277A>G	ANKHD1, ANKHD1-EIF4EBP3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1020265	NC_000005.9:g.(?_136633338)_(140998481_?)dup	IGIP, IK +116 more	Duplication	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome	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 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	AFF4, C5orf46 +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
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 145330	GRCh38/hg38 5q31.2-31.3(chr5:137836682-140696361)x3	ECSCR, EGR1 +224 more	Copy number gain	See cases	GPathogenic
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 58388	GRCh38/hg38 5q31.2-32(chr5:138871137-145812309)x1	ANKHD1, ANKHD1-DT +377 more	Copy number loss	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

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Links from Gene

Items: 29