"Ambry Genetics"[submitter] AND "KLHL23"[gene] - ClinVar - NCBI

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Items: 18

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2327849	NM_144711.6(KLHL23):c.49A>G (p.Thr17Ala)	KLHL23, PHOSPHO2-KLHL23 (T17A)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2316745	NM_144711.6(KLHL23):c.158C>T (p.Ala53Val)	KLHL23, PHOSPHO2-KLHL23 (A53V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3115560	NM_144711.6(KLHL23):c.160G>A (p.Val54Ile)	KLHL23, PHOSPHO2-KLHL23 (V54I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3115561	NM_144711.6(KLHL23):c.556A>G (p.Ile186Val)	KLHL23, PHOSPHO2-KLHL23 (I186V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2356660	NM_144711.6(KLHL23):c.650A>G (p.Glu217Gly)	KLHL23, PHOSPHO2-KLHL23 (E217G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3115562	NM_144711.6(KLHL23):c.727A>G (p.Arg243Gly)	KLHL23, PHOSPHO2-KLHL23 (R243G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3115563	NM_144711.6(KLHL23):c.798G>T (p.Glu266Asp)	KLHL23, PHOSPHO2-KLHL23 (E266D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2270156	NM_144711.6(KLHL23):c.887C>T (p.Thr296Ile)	KLHL23, PHOSPHO2-KLHL23 (T296I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2298173	NM_144711.6(KLHL23):c.991G>A (p.Asp331Asn)	KLHL23, PHOSPHO2-KLHL23 (D331N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2590397	NM_144711.6(KLHL23):c.1195A>G (p.Ile399Val)	KLHL23, PHOSPHO2-KLHL23 (I399V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3115557	NM_144711.6(KLHL23):c.1340G>A (p.Ser447Asn)	KLHL23, PHOSPHO2-KLHL23 (S447N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2455304	NM_144711.6(KLHL23):c.1457A>C (p.Asn486Thr)	KLHL23, PHOSPHO2-KLHL23 (N486T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3115558	NM_144711.6(KLHL23):c.1459G>C (p.Glu487Gln)	KLHL23, PHOSPHO2-KLHL23 (E487Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2605329	NM_144711.6(KLHL23):c.1492A>G (p.Arg498Gly)	KLHL23, PHOSPHO2-KLHL23 (R498G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2599600	NM_144711.6(KLHL23):c.1504G>A (p.Gly502Ser)	KLHL23, PHOSPHO2-KLHL23 (G502S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2406918	NM_144711.6(KLHL23):c.1565C>T (p.Thr522Met)	KLHL23, PHOSPHO2-KLHL23 (T522M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3115559	NM_144711.6(KLHL23):c.1579A>G (p.Ile527Val)	KLHL23, PHOSPHO2-KLHL23 (I527V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2403368	NM_144711.6(KLHL23):c.1673T>A (p.Val558Asp)	KLHL23, PHOSPHO2-KLHL23 (V558D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance