ATE1[gene] and "single gene"[properties] - ClinVar

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Items: 37

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3059476	NM_001001976.3(ATE1):c.*8A>G	ATE1	Single nucleotide variant (3 prime UTR variant +1 more)	ATE1-related disorder	GBenign
Select item 2292863	NM_001001976.3(ATE1):c.1531G>A (p.Glu511Lys)	ATE1 (E396K +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3130775	NM_001001976.3(ATE1):c.1492G>T (p.Val498Phe)	ATE1 (V402F +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2234357	NM_001001976.3(ATE1):c.1453T>C (p.Tyr485His)	ATE1 (Y370H +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2388949	NM_001001976.3(ATE1):c.1397C>T (p.Thr466Met)	ATE1 (T351M +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3130773	NM_001001976.3(ATE1):c.1372G>A (p.Glu458Lys)	ATE1 (E362K +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3060412	NM_001001976.3(ATE1):c.1371A>C (p.Pro457=)	ATE1	Single nucleotide variant (synonymous variant +1 more)	ATE1-related disorder	GBenign
Select item 2287956	NM_001001976.3(ATE1):c.1364A>G (p.Gln455Arg)	ATE1 (Q455R +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2379832	NM_001001976.3(ATE1):c.1352G>T (p.Cys451Phe)	ATE1 (C336F +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3060294	NM_001001976.3(ATE1):c.1236A>G (p.Ser412=)	ATE1	Single nucleotide variant (synonymous variant +1 more)	ATE1-related disorder	GBenign
Select item 3060051	NM_001001976.3(ATE1):c.1157+7T>C	ATE1	Single nucleotide variant (intron variant)	ATE1-related disorder	GBenign
Select item 2596800	NM_001001976.3(ATE1):c.1141G>A (p.Val381Ile)	ATE1 (V285I +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2325621	NM_001001976.3(ATE1):c.1136T>G (p.Leu379Trp)	ATE1 (L264W +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3130772	NM_001001976.3(ATE1):c.1118A>G (p.Asp373Gly)	ATE1 (D258G +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3058116	NM_001001976.3(ATE1):c.1071C>T (p.Asp357=)	ATE1	Single nucleotide variant (synonymous variant +1 more)	ATE1-related disorder	GLikely benign
Select item 2612524	NM_001001976.3(ATE1):c.1023C>G (p.His341Gln)	ATE1 (H341Q +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2334206	NM_001001976.3(ATE1):c.976G>A (p.Ala326Thr)	ATE1 (A211T +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3037699	NM_001001976.3(ATE1):c.942+1004C>T	ATE1	Single nucleotide variant (synonymous variant +1 more)	ATE1-related disorder	GLikely benign
Select item 2597059	NM_001001976.3(ATE1):c.926C>T (p.Thr309Met)	ATE1 (T194M +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2621793	NM_001001976.3(ATE1):c.872C>T (p.Ser291Phe)	ATE1 (S176F +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2363671	NM_001001976.3(ATE1):c.845C>T (p.Ser282Leu)	ATE1 (S167L +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2284915	NM_001001976.3(ATE1):c.800C>T (p.Ser267Leu)	ATE1 (S260L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3130780	NM_001001976.3(ATE1):c.769T>G (p.Leu257Val)	ATE1 (L161V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2483749	NM_001001976.3(ATE1):c.752C>G (p.Pro251Arg)	ATE1 (P136R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2220042	NM_001001976.3(ATE1):c.746A>T (p.Asn249Ile)	ATE1 (N134I +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2528715	NM_001001976.3(ATE1):c.736G>C (p.Ala246Pro)	ATE1 (A131P +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3130779	NM_001001976.3(ATE1):c.580C>T (p.Pro194Ser)	ATE1 (P187S +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3130777	NM_001001976.3(ATE1):c.568A>C (p.Thr190Pro)	ATE1 (T75P +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3130776	NM_001001976.3(ATE1):c.560A>G (p.Lys187Arg)	ATE1 (K72R +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2362687	NM_001001976.3(ATE1):c.545C>T (p.Pro182Leu)	ATE1 (P67L +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2511101	NM_001001976.3(ATE1):c.458G>A (p.Ser153Asn)	ATE1 (S146N +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2614114	NM_001001976.3(ATE1):c.433G>A (p.Asp145Asn)	ATE1 (D138N +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2212363	NM_001001976.3(ATE1):c.374C>T (p.Ala125Val)	ATE1 (A10V +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3036331	NM_001001976.3(ATE1):c.369T>A (p.Ala123=)	ATE1	Single nucleotide variant (synonymous variant +1 more)	ATE1-related disorder	GLikely benign
Select item 3059291	NM_001001976.3(ATE1):c.303A>G (p.Leu101=)	ATE1	Single nucleotide variant (synonymous variant +2 more)	ATE1-related disorder	GBenign
Select item 2558424	NM_001001976.3(ATE1):c.289A>G (p.Met97Val)	ATE1 (M90V +2 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 3061001	NM_001001976.3(ATE1):c.9C>T (p.Phe3=)	ATE1	Single nucleotide variant (synonymous variant +2 more)	ATE1-related disorder	GBenign

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Items: 37