EHF[gene] - ClinVar

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Items: 38

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58858	GRCh38/hg38 11p14.3-12(chr11:22550115-38199159)x1	PAX6_HS3, PAX6_HS8 +334 more	Copy number loss	See cases	GPathogenic
Select item 145969	GRCh38/hg38 11p14.2-13(chr11:26368962-35252976)x1	LOC129390275, LOC129390276 +255 more	Copy number loss	See cases	GPathogenic
Select item 59751	GRCh38/hg38 11p13-12(chr11:34161694-36799127)x3	ABTB2, APIP +100 more	Copy number gain	See cases	GPathogenic
Select item 154920	GRCh38/hg38 11p13-12(chr11:34168931-36820798)x3	ABTB2, APIP +100 more	Copy number gain	See cases	GUncertain significance
Select item 2332877	NM_012153.6(EHF):c.57C>G (p.His19Gln)	EHF (H41Q +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2260607	NM_012153.6(EHF):c.62C>T (p.Pro21Leu)	EHF (P43L +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2282905	NM_012153.6(EHF):c.104G>C (p.Ser35Thr)	EHF (S38T +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2290862	NM_012153.6(EHF):c.144G>C (p.Gln48His)	EHF (Q51H +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2258821	NM_012153.6(EHF):c.181C>A (p.His61Asn)	EHF (H83N +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2372165	NM_012153.6(EHF):c.197A>G (p.Asn66Ser)	EHF (N66S +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3087791	NM_012153.6(EHF):c.253C>A (p.Leu85Ile)	EHF (L107I +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2370588	NM_012153.6(EHF):c.283C>T (p.Arg95Trp)	EHF (R8W +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2328194	NM_012153.6(EHF):c.284G>A (p.Arg95Gln)	EHF (R117Q +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2527079	NM_012153.6(EHF):c.353G>A (p.Ser118Asn)	EHF (S140N +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 789794	NM_012153.6(EHF):c.384C>T (p.Val128=)	EHF	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3087792	NM_012153.6(EHF):c.440A>G (p.Asn147Ser)	EHF (N147S +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2307712	NM_012153.6(EHF):c.575A>T (p.Asp192Val)	EHF (D213V +8 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2340133	NM_012153.6(EHF):c.578C>A (p.Pro193His)	EHF (P173H +8 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2253005	NM_012153.6(EHF):c.587A>C (p.Lys196Thr)	EHF (K172T +8 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2462579	NM_012153.6(EHF):c.592C>A (p.His198Asn)	EHF (H175N +8 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2407578	NM_012153.6(EHF):c.815A>G (p.Lys272Arg)	EHF (K185R +8 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1807696	GRCh37/hg19 11p13-12(chr11:31372721-38259316)x1	ABTB2, APIP +40 more	Copy number loss	not provided	GPathogenic
Select item 1704646	GRCh37/hg19 11p13-q25(chr11:32799481-134938470)x3	GRIA4, GRIK4 +956 more	Copy number gain	MISSED ABORTION	GPathogenic
Select item 1527636	GRCh37/hg19 11p13-12(chr11:34189942-36857171)	ABTB2, APIP +16 more	Copy number gain	not specified	GUncertain significance
Select item 1527635	GRCh37/hg19 11p13-12(chr11:32782607-36404823)	ABTB2, APIP +26 more	Copy number gain	not specified	GUncertain significance
Select item 997825	Single allele	ACER3, ACP2 +904 more	Deletion	Intellectual disability	GPathogenic
Select item 815410	GRCh37/hg19 11p15.3-13(chr11:11053978-34732891)x3	RASSF10, RCN1 +116 more	Copy number gain	not provided	GPathogenic
Select item 688898	GRCh37/hg19 11p14.3-13(chr11:22079154-35597645)x1	ABTB2, ANO3 +55 more	Copy number loss	not provided	GPathogenic
Select item 685267	GRCh37/hg19 11p13-12(chr11:34183318-36860753)x3	ABTB2, APIP +16 more	Copy number gain	not provided	GUncertain significance
Select item 441904	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)	ACP2, CREBZF +1289 more	Copy number gain	See cases	GPathogenic
Select item 441903	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3	GALNT18, MPZL3 +1289 more	Copy number gain	See cases	GPathogenic
Select item 441893	GRCh37/hg19 11p14.3-13(chr11:25771208-35614978)x1	ABTB2, ANO3 +48 more	Copy number loss	See cases	GPathogenic
Select item 441715	GRCh37/hg19 11p15.5-12(chr11:230615-37698540)x3	OR2AG2, OR2D2 +364 more	Copy number gain	See cases	GPathogenic
Select item 441612	GRCh37/hg19 11p14.1-12(chr11:27588560-41770792)x1	ABTB2, APIP +50 more	Copy number loss	See cases	GPathogenic
Select item 395486	GRCh37/hg19 11p13(chr11:34642773-34695314)x3	EHF	Copy number gain	See cases	GLikely benign
Select item 395339	GRCh37/hg19 11p13(chr11:31210842-35436121)x1	ABTB2, APIP +30 more	Copy number loss	See cases	GPathogenic
Select item 253513	GRCh37/hg19 11p14.1-12(chr11:30615127-40606139)x1	ABTB2, APIP +41 more	Copy number loss	See cases	GPathogenic
Select item 221842	GRCh37/hg19 11p13(chr11:34642823-34796804)x3	EHF	Copy number gain	Premature ovarian failure	GBenign

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Items: 38