Related gene-specific medical variations for Gene (Select 55325) - ClinVar

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

Links from Gene

Items: 29

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3186034	NM_018359.5(UFSP2):c.46G>A (p.Gly16Ser)	CFAP96, UFSP2 (G16S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3186033	NM_018359.5(UFSP2):c.421C>G (p.His141Asp)	CFAP96, UFSP2 (H141D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3186032	NM_018359.5(UFSP2):c.295A>C (p.Lys99Gln)	CFAP96, UFSP2 (K99Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3065681	NM_018359.5(UFSP2):c.1333G>A (p.Gly445Arg)	ANKRD37, UFSP2 (G445R)	Single nucleotide variant (missense variant +1 more)	Hip dysplasia, Beukes type	GUncertain significance
Select item 3058506	NM_018359.5(UFSP2):c.688T>C (p.Leu230=)	CFAP96, UFSP2	Single nucleotide variant (synonymous variant +1 more)	UFSP2-related condition	GLikely benign
Select item 2663881	NM_018359.5(UFSP2):c.110_111del (p.His37fs)	CFAP96, UFSP2 (H37fs)	Deletion (frameshift variant +1 more)	Developmental and epileptic encephalopathy 106	GPathogenic
Select item 2527540	NM_018359.5(UFSP2):c.130A>G (p.Thr44Ala)	CFAP96, UFSP2 (T44A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2523961	NM_181726.4(ANKRD37):c.314G>C (p.Trp105Ser)	ANKRD37, UFSP2 (W105S)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2478944	NM_018359.5(UFSP2):c.382G>A (p.Ala128Thr)	CFAP96, UFSP2 (A128T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2476895	NM_018359.5(UFSP2):c.695A>T (p.Asp232Val)	CFAP96, UFSP2 (D232V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2389732	NM_181726.4(ANKRD37):c.289G>A (p.Gly97Arg)	ANKRD37, UFSP2 (G97R)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2378083	NM_018359.5(UFSP2):c.746A>G (p.Tyr249Cys)	CFAP96, UFSP2 (Y249C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2372856	NM_018359.5(UFSP2):c.827G>A (p.Gly276Asp)	CFAP96, UFSP2 (G276D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2340974	NM_018359.5(UFSP2):c.311A>G (p.Lys104Arg)	CFAP96, UFSP2 (K104R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2328497	NM_181726.4(ANKRD37):c.364A>G (p.Met122Val)	ANKRD37, UFSP2 (M122V)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2287563	NM_018359.5(UFSP2):c.20T>C (p.Met7Thr)	CFAP96, UFSP2 (M7T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2272848	NM_181726.4(ANKRD37):c.415G>A (p.Val139Met)	ANKRD37, UFSP2 (V139M)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2230707	NM_018359.5(UFSP2):c.1340A>C (p.Lys447Thr)	ANKRD37, UFSP2 (K447T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1809662	NM_018359.5(UFSP2):c.1376A>C (p.Asn459Thr)	ANKRD37, UFSP2 (N459T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1685196	NM_018359.5(UFSP2):c.623dup (p.Asn208fs)	CFAP96, UFSP2 (N208fs)	Duplication (frameshift variant +1 more)	not specified	GUncertain significance
Select item 1684236	NM_018359.5(UFSP2):c.-33C>T	CFAP96, UFSP2	Single nucleotide variant (5 prime UTR variant +1 more)	Hip dysplasia, Beukes type +1 more	GBenign
Select item 1684235	NM_018359.5(UFSP2):c.333+11T>C	CFAP96, UFSP2	Single nucleotide variant (intron variant)	Hip dysplasia, Beukes type +1 more	GBenign
Select item 932944	NM_018359.5(UFSP2):c.344T>A (p.Val115Glu)	CFAP96, UFSP2 (V115E)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy 106 +9 more	GConflicting classifications of pathogenicity
Select item 783432	NM_018359.5(UFSP2):c.228T>C (p.Thr76=)	CFAP96, UFSP2	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 746197	NM_018359.5(UFSP2):c.186A>G (p.Ile62Met)	CFAP96, UFSP2 (I62M)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 737877	NM_018359.5(UFSP2):c.704A>G (p.Asn235Ser)	CFAP96, UFSP2 (N235S)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 720924	NM_018359.5(UFSP2):c.279A>G (p.Glu93=)	CFAP96, UFSP2	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 709775	NM_018359.5(UFSP2):c.237T>C (p.Ser79=)	CFAP96, UFSP2	Single nucleotide variant (synonymous variant +1 more)	UFSP2-related condition +1 more	GBenign
Select item 224821	NM_018359.5(UFSP2):c.1373A>G (p.Tyr458Cys)	ANKRD37, UFSP2 (Y458C)	Single nucleotide variant (missense variant +1 more)	Cerebral visual impairment and intellectual disability	GLikely pathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from Gene

Items: 29