"Ambry Genetics"[submitter] AND "CRELD2"[gene] - ClinVar

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

Search results

Items: 28

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2561200	NM_024324.5(CRELD2):c.13C>T (p.Arg5Cys)	CRELD2, LOC130067776 (R5C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2207533	NM_024324.5(CRELD2):c.40C>T (p.Leu14Phe)	CRELD2, LOC130067776 (L14F)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2347282	NM_024324.5(CRELD2):c.65C>T (p.Pro22Leu)	CRELD2, LOC130067776 (P22L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2542236	NM_024324.5(CRELD2):c.97C>G (p.Arg33Gly)	CRELD2 (R33G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2380418	NM_024324.5(CRELD2):c.98G>A (p.Arg33Gln)	CRELD2 (R33Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2475960	NM_024324.5(CRELD2):c.214G>A (p.Glu72Lys)	CRELD2 (E72K)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2225925	NM_024324.5(CRELD2):c.275A>G (p.Gln92Arg)	CRELD2 (Q92R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2207316	NM_024324.5(CRELD2):c.276G>C (p.Gln92His)	CRELD2 (Q92H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2553249	NM_024324.5(CRELD2):c.354G>T (p.Trp118Cys)	CRELD2 (W118C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2474938	NM_024324.5(CRELD2):c.400G>T (p.Gly134Cys)	CRELD2 (G134C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2377103	NM_024324.5(CRELD2):c.400G>A (p.Gly134Ser)	CRELD2 (G134S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2308340	NM_024324.5(CRELD2):c.430T>C (p.Ser144Pro)	CRELD2 (S144P)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2378473	NM_024324.5(CRELD2):c.593-294C>G	CRELD2 (S205C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2275730	NM_024324.5(CRELD2):c.593-244G>A	CRELD2 (A222T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2369509	NM_024324.5(CRELD2):c.593-222C>T	CRELD2 (T229M)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2215483	NM_024324.5(CRELD2):c.593-208G>T	CRELD2 (G234C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2459029	NM_024324.5(CRELD2):c.593-181G>T	CRELD2 (A243S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2602531	NM_024324.5(CRELD2):c.652G>A (p.Glu218Lys)	CRELD2 (E218K +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2536871	NM_024324.5(CRELD2):c.691G>A (p.Val231Met)	CRELD2 (V231M +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2595519	NM_024324.5(CRELD2):c.742A>G (p.Lys248Glu)	CRELD2 (K297E +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GLikely benign
Select item 2260328	NM_024324.5(CRELD2):c.763A>G (p.Thr255Ala)	CRELD2 (T304A +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2296459	NM_024324.5(CRELD2):c.764C>T (p.Thr255Met)	CRELD2 (T255M +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2209333	NM_024324.5(CRELD2):c.773A>C (p.Glu258Ala)	CRELD2 (E230A +2 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2398510	NM_024324.5(CRELD2):c.916G>A (p.Glu306Lys)	CRELD2, LOC130067777 (E274K +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2264416	NM_024324.5(CRELD2):c.944A>G (p.Tyr315Cys)	CRELD2, LOC130067777 (Y287C +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2238539	NM_024324.5(CRELD2):c.1019A>T (p.Glu340Val)	CRELD2 (E389V +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2235195	NM_024324.5(CRELD2):c.1028G>A (p.Ser343Asn)	CRELD2 (S343N +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2624322	NM_024324.5(CRELD2):c.1056C>A (p.Asp352Glu)	CRELD2 (D352E +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	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: 28