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

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Items: 27

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 780300	NM_018212.6(ENAH):c.1675+10del	ENAH	Deletion (intron variant)	not provided	GBenign
Select item 2620697	NM_018212.6(ENAH):c.1525C>T (p.Pro509Ser)	ENAH (P472S +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2550809	NM_018212.6(ENAH):c.1391C>T (p.Thr464Ile)	ENAH (T464I +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2395021	NM_018212.6(ENAH):c.1319G>C (p.Gly440Ala)	ENAH (G403A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2251254	NM_018212.6(ENAH):c.1265A>C (p.Asn422Thr)	ENAH (N441T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2403706	NM_018212.6(ENAH):c.1178C>T (p.Ala393Val)	ENAH (A412V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2398597	NM_018212.6(ENAH):c.1153G>C (p.Asp385His)	ENAH (D385H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2405271	NM_018212.6(ENAH):c.1046C>T (p.Pro349Leu)	ENAH (P349L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2608564	NM_018212.6(ENAH):c.1036G>T (p.Gly346Trp)	ENAH (G593W +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 747225	NM_018212.6(ENAH):c.942A>C (p.Pro314=)	ENAH	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2386112	NM_018212.6(ENAH):c.928C>T (p.Pro310Ser)	ENAH (P273S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3088816	NM_018212.6(ENAH):c.926G>T (p.Gly309Val)	ENAH (G556V +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3088815	NM_018212.6(ENAH):c.884C>T (p.Ser295Phe)	ENAH (S295F +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3088814	NM_018212.6(ENAH):c.833A>G (p.Asn278Ser)	ENAH (N297S +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2493204	NM_018212.6(ENAH):c.824C>T (p.Thr275Ile)	ENAH (T294I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 725097	NM_018212.6(ENAH):c.794C>T (p.Ser265Leu)	ENAH (S265L)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3088813	NM_018212.6(ENAH):c.677G>T (p.Arg226Met)	ENAH (R245M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2372174	NM_018212.6(ENAH):c.675G>T (p.Glu225Asp)	ENAH (E225D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 767753	NM_018212.6(ENAH):c.615GCGGCAGGAACGCCTGGA[2] (p.199ERQERL[3])	ENAH	Microsatellite (inframe_deletion)	not provided	GBenign
Select item 2516556	NM_018212.6(ENAH):c.653G>A (p.Arg218Gln)	ENAH (R237Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2473383	NM_018212.6(ENAH):c.598C>T (p.Arg200Trp)	ENAH (R200W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3088812	NM_018212.6(ENAH):c.472C>T (p.Arg158Trp)	ENAH (R19W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3088811	NM_018212.6(ENAH):c.436C>A (p.Gln146Lys)	ENAH (Q7K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 790252	NM_018212.6(ENAH):c.435-4C>T	ENAH	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 742118	NM_018212.6(ENAH):c.435-5T>C	ENAH	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 218481	NM_018212.6(ENAH):c.435-5del	ENAH	Deletion (intron variant)	not specified	GBenign
Select item 2378688	NM_018212.6(ENAH):c.293A>G (p.Asn98Ser)	ENAH (N98S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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Items: 27