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

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

Search results

Items: 27

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1523151	NM_016107.5(ZFR):c.3114G>A (p.Met1038Ile)	ZFR (M1038I)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 1361527	NM_016107.5(ZFR):c.3112A>G (p.Met1038Val)	ZFR (M1038V)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 1898176	NM_016107.5(ZFR):c.3076A>G (p.Ile1026Val)	ZFR (I1026V)	Single nucleotide variant (missense variant +1 more)	Pure or complex autosomal recessive spastic paraplegia +1 more	GUncertain significance
Select item 2253563	NM_016107.5(ZFR):c.3006G>A (p.Met1002Ile)	ZFR (M1002I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2397064	NM_016107.5(ZFR):c.2744G>A (p.Arg915Lys)	ZFR (R915K)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 3193312	NM_016107.5(ZFR):c.2563T>G (p.Ser855Ala)	ZFR (S855A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2220196	NM_016107.5(ZFR):c.2551A>G (p.Ile851Val)	ZFR (I851V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2559745	NM_016107.5(ZFR):c.2456C>G (p.Thr819Arg)	ZFR (T819R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2607736	NM_016107.5(ZFR):c.2333A>G (p.Glu778Gly)	ZFR (E778G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2264136	NM_016107.5(ZFR):c.2153G>A (p.Arg718His)	ZFR (R718H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2308522	NM_016107.5(ZFR):c.2087C>A (p.Pro696Gln)	ZFR (P696Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 640258	NM_016107.5(ZFR):c.2006G>A (p.Arg669Lys)	ZFR (R669K)	Single nucleotide variant (missense variant +1 more)	Pure or complex autosomal recessive spastic paraplegia +1 more	GUncertain significance
Select item 1022028	NM_016107.5(ZFR):c.1984T>C (p.Tyr662His)	ZFR (Y662H)	Single nucleotide variant (missense variant +1 more)	Pure or complex autosomal recessive spastic paraplegia +1 more	GUncertain significance
Select item 3334562	NM_016107.5(ZFR):c.1882G>A (p.Ala628Thr)	ZFR (A628T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3334563	NM_016107.5(ZFR):c.1681G>A (p.Val561Met)	ZFR (V561M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3193310	NM_016107.5(ZFR):c.1651C>T (p.Pro551Ser)	ZFR (P551S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3193309	NM_016107.5(ZFR):c.1418G>A (p.Gly473Glu)	ZFR (G473E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3193308	NM_016107.5(ZFR):c.1396A>G (p.Met466Val)	ZFR (M466V)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2243912	NM_016107.5(ZFR):c.1358A>G (p.Asn453Ser)	ZFR (N453S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2487022	NM_016107.5(ZFR):c.1127G>A (p.Arg376His)	ZFR (R376H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2326955	NM_016107.5(ZFR):c.1099A>G (p.Asn367Asp)	ZFR (N367D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2322828	NM_016107.5(ZFR):c.778T>G (p.Tyr260Asp)	ZFR (Y260D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2750577	NM_016107.5(ZFR):c.700G>A (p.Val234Ile)	ZFR (V234I)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 3193315	NM_016107.5(ZFR):c.592G>A (p.Ala198Thr)	ZFR (A198T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2612775	NM_016107.5(ZFR):c.368G>A (p.Arg123Lys)	ZFR (R123K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2545901	NM_016107.5(ZFR):c.346A>G (p.Thr116Ala)	ZFR (T116A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3193313	NM_016107.5(ZFR):c.32C>A (p.Thr11Asn)	LOC129993763, ZFR (T11N)	Single nucleotide variant (missense variant +1 more)	not specified	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: 27