EFHC2[gene] and "single gene"[properties] - ClinVar

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

Search results

Items: 49

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2588567	NM_025184.4(EFHC2):c.2241G>C (p.Glu747Asp)	EFHC2 (E747D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2544176	NM_025184.4(EFHC2):c.2226C>A (p.Asp742Glu)	EFHC2 (D742E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2660362	NM_025184.4(EFHC2):c.2160T>C (p.Asp720=)	EFHC2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3087553	NM_025184.4(EFHC2):c.2129C>T (p.Pro710Leu)	EFHC2 (P710L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3087552	NM_025184.4(EFHC2):c.2089G>T (p.Ala697Ser)	EFHC2 (A697S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2456442	NM_025184.4(EFHC2):c.2063A>G (p.Gln688Arg)	EFHC2 (Q688R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3274687	NM_025184.4(EFHC2):c.1846G>A (p.Asp616Asn)	EFHC2 (D616N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3087551	NM_025184.4(EFHC2):c.1823G>A (p.Arg608His)	EFHC2 (R608H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3087550	NM_025184.4(EFHC2):c.1822C>T (p.Arg608Cys)	EFHC2 (R608C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3235723	NM_025184.4(EFHC2):c.1574A>T (p.Asn525Ile)	EFHC2 (N525I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2360713	NM_025184.4(EFHC2):c.1574A>G (p.Asn525Ser)	EFHC2 (N525S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2262551	NM_025184.4(EFHC2):c.1565G>A (p.Arg522His)	EFHC2 (R522H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2660363	NM_025184.4(EFHC2):c.1539G>A (p.Thr513=)	EFHC2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 193745	NM_025184.4(EFHC2):c.1519G>C (p.Glu507Gln)	EFHC2 (E507Q)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 1318353	NM_025184.4(EFHC2):c.1516G>A (p.Glu506Lys)	EFHC2 (E506K)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2518660	NM_025184.4(EFHC2):c.1410A>G (p.Ile470Met)	EFHC2 (I470M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2660364	NM_025184.4(EFHC2):c.1408A>G (p.Ile470Val)	EFHC2 (I470V)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3274689	NM_025184.4(EFHC2):c.1390A>T (p.Ile464Phe)	EFHC2 (I464F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2488697	NM_025184.4(EFHC2):c.1235C>T (p.Pro412Leu)	EFHC2 (P412L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3087549	NM_025184.4(EFHC2):c.1232A>G (p.Lys411Arg)	EFHC2 (K411R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3274686	NM_025184.4(EFHC2):c.1214G>A (p.Arg405His)	EFHC2 (R405H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3087548	NM_025184.4(EFHC2):c.1148C>T (p.Pro383Leu)	EFHC2 (P383L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2209439	NM_025184.4(EFHC2):c.1138C>T (p.Pro380Ser)	EFHC2 (P380S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3087547	NM_025184.4(EFHC2):c.1105G>A (p.Gly369Arg)	EFHC2 (G369R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3087546	NM_025184.4(EFHC2):c.1079C>T (p.Thr360Met)	EFHC2 (T360M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2660365	NM_025184.4(EFHC2):c.960C>T (p.Phe320=)	EFHC2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2591595	NM_025184.4(EFHC2):c.949G>A (p.Gly317Ser)	EFHC2 (G317S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3087555	NM_025184.4(EFHC2):c.812G>A (p.Gly271Asp)	EFHC2 (G271D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2309749	NM_025184.4(EFHC2):c.725T>C (p.Met242Thr)	EFHC2 (M242T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3274688	NM_025184.4(EFHC2):c.685A>G (p.Ile229Val)	EFHC2 (I229V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2322622	NM_025184.4(EFHC2):c.632G>A (p.Arg211His)	EFHC2 (R211H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3087554	NM_025184.4(EFHC2):c.625C>G (p.Pro209Ala)	EFHC2 (P209A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1205848	NM_025184.4(EFHC2):c.625C>T (p.Pro209Ser)	EFHC2 (P209S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2332539	NM_025184.4(EFHC2):c.599G>A (p.Arg200Gln)	EFHC2 (R200Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2329378	NM_025184.4(EFHC2):c.574C>A (p.Pro192Thr)	EFHC2 (P192T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2531008	NM_025184.4(EFHC2):c.487C>T (p.Arg163Trp)	EFHC2 (R163W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2210485	NM_025184.4(EFHC2):c.463G>A (p.Gly155Ser)	EFHC2 (G155S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2588438	NM_025184.4(EFHC2):c.418C>G (p.Pro140Ala)	EFHC2 (P140A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2660366	NM_025184.4(EFHC2):c.417G>A (p.Pro139=)	EFHC2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 167032	NM_025184.4(EFHC2):c.404G>A (p.Arg135Gln)	EFHC2 (R135Q)	Single nucleotide variant (missense variant)	X-linked intellectual disability +1 more	GConflicting classifications of pathogenicity
Select item 2482946	NM_025184.4(EFHC2):c.346A>G (p.Asn116Asp)	EFHC2 (N116D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2320901	NM_025184.4(EFHC2):c.305A>G (p.Tyr102Cys)	EFHC2 (Y102C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2522575	NM_025184.4(EFHC2):c.304T>C (p.Tyr102His)	EFHC2 (Y102H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2309234	NM_025184.4(EFHC2):c.268C>T (p.Leu90Phe)	EFHC2 (L90F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 787518	NM_025184.4(EFHC2):c.170G>A (p.Cys57Tyr)	EFHC2 (C57Y)	Single nucleotide variant (missense variant)	Ornithine carbamoyltransferase deficiency +1 more	GConflicting classifications of pathogenicity
Select item 2689002	NM_025184.4(EFHC2):c.138A>T (p.Glu46Asp)	EFHC2 (E46D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2612179	NM_025184.4(EFHC2):c.131G>A (p.Gly44Asp)	EFHC2 (G44D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2212887	NM_025184.4(EFHC2):c.85T>C (p.Cys29Arg)	EFHC2 (C29R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 151797	GRCh38/hg38 Xp11.3(chrX:44328048-44342018)x2	EFHC2	Copy number gain	See cases	GUncertain significance

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: 49