Related gene-specific medical variations for Gene (Select 441054) - ClinVar

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Items: 26

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3340501	NM_018359.5(UFSP2):c.623del (p.Asn208fs)	CFAP96, UFSP2 (N208fs)	Deletion (frameshift variant +1 more)	Developmental and epileptic encephalopathy 106	GLikely pathogenic
Select item 3330803	NM_018359.5(UFSP2):c.415G>A (p.Gly139Arg)	UFSP2, CFAP96 (G139R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
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 3138253	NM_152775.4(CCDC110):c.2480A>G (p.Asp827Gly)	CCDC110, CFAP96 (D827G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	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 disorder	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 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 2475024	NM_152775.4(CCDC110):c.2497C>T (p.His833Tyr)	CCDC110, CFAP96 (H796Y +1 more)	Single nucleotide variant (missense variant +1 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 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 2241249	NM_001114357.3(CFAP96):c.916G>C (p.Val306Leu)	CCDC110, CFAP96 (V306L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	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)	not provided +2 more	GBenign
Select item 1684235	NM_018359.5(UFSP2):c.333+11T>C	CFAP96, UFSP2	Single nucleotide variant (intron variant)	not provided +2 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)	not provided	GBenign

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Links from Gene

Items: 26