EFHD2[gene] - ClinVar

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Items: 41

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2664871	GRCh38/hg38 1p36.33-35.1(chr1:99125-34026935)x3	A2ML1-AS2, A3GALT2 +2151 more	Copy number gain	Trisomy 12p	GPathogenic
Select item 59846	GRCh38/hg38 1p36.32-36.13(chr1:3006193-17688934)x1	LINC02783, LINC03126 +804 more	Copy number loss	See cases	GPathogenic
Select item 154704	GRCh38/hg38 1p36.31-36.13(chr1:5363826-18360302)x1	PLOD1, PRAMEF1 +730 more	Copy number loss	See cases	GPathogenic
Select item 148885	GRCh38/hg38 1p36.31-36.21(chr1:6303641-15799093)x1	LOC129929327, LOC129929328 +557 more	Copy number loss	See cases	GPathogenic
Select item 154839	GRCh38/hg38 1p36.31-36.13(chr1:6554885-16056011)x3	AADACL3, AADACL4 +563 more	Copy number gain	See cases	GPathogenic
Select item 59885	GRCh38/hg38 1p36.23-36.13(chr1:9034671-16441465)x1	AADACL3, AADACL4 +462 more	Copy number loss	See cases	GPathogenic
Select item 152293	GRCh38/hg38 1p36.22-36.21(chr1:9428538-15815791)x1	AADACL3, AADACL4 +370 more	Copy number loss	See cases	GPathogenic
Select item 1707471	NC_000001.11:g.10115497_16283149dup	LOC110120623, LOC110120648 +361 more	Duplication	not specified	GLikely pathogenic
Select item 152937	GRCh38/hg38 1p36.22-36.21(chr1:10264397-15780840)x1	AADACL3, AADACL4 +304 more	Copy number loss	See cases	GPathogenic
Select item 59892	GRCh38/hg38 1p36.22-36.13(chr1:10621776-16520709)x1	AADACL3, AADACL4 +337 more	Copy number loss	See cases	GPathogenic
Select item 59894	GRCh38/hg38 1p36.22-36.13(chr1:10809039-16422500)x1	LOC112577504, LOC112577505 +316 more	Copy number loss	See cases	GPathogenic
Select item 59895	GRCh38/hg38 1p36.22-36.13(chr1:11121625-16324498)x1	AADACL3, AADACL4 +288 more	Copy number loss	See cases	GPathogenic
Select item 148652	GRCh38/hg38 1p36.21-36.13(chr1:12724785-16034788)x1	AADACL3, AGMAT +151 more	Copy number loss	See cases	GPathogenic
Select item 58056	GRCh38/hg38 1p36.21-36.13(chr1:13619979-18466172)x3	LOC129929515, LOC129929516 +211 more	Copy number gain	See cases	GPathogenic
Select item 146292	GRCh38/hg38 1p36.21-36.13(chr1:15052047-16499873)x1	AGMAT, ARHGEF19 +112 more	Copy number loss	See cases	GLikely pathogenic
Select item 57443	GRCh38/hg38 1p36.21-36.12(chr1:15385267-20980349)x1	ACTL8, AGMAT +303 more	Copy number loss	See cases	GPathogenic
Select item 2495045	NM_024329.6(EFHD2):c.13G>A (p.Glu5Lys)	EFHD2, EFHD2-AS1 (E5K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2240656	NM_024329.6(EFHD2):c.74C>T (p.Pro25Leu)	EFHD2, EFHD2-AS1 (P25L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2338784	NM_024329.6(EFHD2):c.110C>T (p.Ala37Val)	EFHD2, EFHD2-AS1 (A37V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2326880	NM_024329.6(EFHD2):c.116G>A (p.Gly39Glu)	EFHD2, EFHD2-AS1 (G39E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2224888	NM_024329.6(EFHD2):c.131C>T (p.Ala44Val)	EFHD2, EFHD2-AS1 (A44V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3274691	NM_024329.6(EFHD2):c.133G>A (p.Ala45Thr)	EFHD2, EFHD2-AS1 (A45T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3087559	NM_024329.6(EFHD2):c.334A>G (p.Ile112Val)	EFHD2 (I112V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2478195	NM_024329.6(EFHD2):c.526C>T (p.Arg176Cys)	EFHD2 (R176C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2399144	NM_024329.6(EFHD2):c.527G>A (p.Arg176His)	EFHD2 (R176H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2274011	NM_024329.6(EFHD2):c.575G>A (p.Ser192Asn)	EFHD2 (S192N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2546304	NM_024329.6(EFHD2):c.597G>C (p.Gln199His)	EFHD2 (Q199H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2537604	NM_024329.6(EFHD2):c.598G>A (p.Ala200Thr)	EFHD2 (A200T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3242274	GRCh37/hg19 1p36.32-36.12(chr1:4436802-22782007)x2	AADACL3, AADACL4 +207 more	Copy number loss	not provided	GPathogenic
Select item 3062911	GRCh37/hg19 1p36.21(chr1:13922015-16013972)x1	AGMAT, CASP9 +13 more	Copy number loss	not specified	GUncertain significance
Select item 2446820	NC_000001.10:g.4481271_20530242del	NOL9, TNFRSF1B +184 more	Deletion	Chromosome 1p36 deletion syndrome	GPathogenic
Select item 1808934	GRCh37/hg19 1p36.31-36.13(chr1:6758933-19287770)x1	AADACL3, AADACL4 +143 more	Copy number loss	not provided	GPathogenic
Select item 1340028	GRCh37/hg19 1p36.33-36.13(chr1:849466-17525065)x1	AJAP1, KAZN +228 more	Copy number loss	not provided	GPathogenic
Select item 814060	GRCh37/hg19 1p36.21(chr1:15352819-15745220)x3	TMEM51, FHAD1 +2 more	Copy number gain	not provided	GUncertain significance
Select item 635767	GRCh37/hg19 1p36.22-21.1(chr1:103343285-103455144)x3	NKAIN1, PLA2G2E +783 more	Copy number gain	Global developmental delay +1 more	GUncertain significance
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	CD34, CD46 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	GPATCH2, GPATCH3 +2014 more	Copy number gain	See cases	GPathogenic
Select item 441913	GRCh37/hg19 1p36.23-36.13(chr1:8850514-16272383)x1	AADACL3, AADACL4 +97 more	Copy number loss	See cases	GLikely pathogenic
Select item 253681	GRCh37/hg19 1p36.21(chr1:15334318-15771284)x3	FHAD1, KAZN +3 more	Copy number gain	See cases	GUncertain significance
Select item 221357	chr1:909238-16736132 complex variant	RER1, RERE +212 more	Complex	Breast ductal adenocarcinoma	GUncertain significance
Select item 221334	Single allele	IGSF21, IL22RA1 +314 more	Complex	Breast ductal adenocarcinoma	GUncertain significance

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Items: 41