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

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Items: 47

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1263470	NM_001321142.2(CIDEC):c.*293T>C	CIDEC	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1281717	NM_001321142.2(CIDEC):c.*162G>A	CIDEC	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1226316	NM_001321142.2(CIDEC):c.*69C>G	CIDEC	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 2329257	NM_001321142.2(CIDEC):c.680C>T (p.Ser227Leu)	CIDEC (S240L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2271837	NM_001321142.2(CIDEC):c.676G>C (p.Ala226Pro)	CIDEC (A239P +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3038583	NM_001321142.2(CIDEC):c.660G>T (p.Gln220His)	CIDEC (Q146H +3 more)	Single nucleotide variant (missense variant)	CIDEC-related disorder	GLikely benign
Select item 726948	NM_001321142.2(CIDEC):c.603A>G (p.Val201=)	CIDEC	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 128773	NM_001321142.2(CIDEC):c.600C>T (p.His200=)	CIDEC	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 434767	NM_001321142.2(CIDEC):c.594A>G (p.Thr198=)	CIDEC	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 738431	NM_001321142.2(CIDEC):c.588G>A (p.Gln196=)	CIDEC	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2412194	NM_001321142.2(CIDEC):c.585G>A (p.Met195Ile)	CIDEC (M205I +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3267352	NM_001321142.2(CIDEC):c.565C>T (p.Arg189Cys)	CIDEC (R115C +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 50400	NM_001321142.2(CIDEC):c.556G>T (p.Glu186Ter)	CIDEC (E186* +3 more)	Single nucleotide variant (nonsense)	CIDEC-related familial partial lipodystrophy	GPathogenic
Select item 3267355	NM_001321142.2(CIDEC):c.547A>T (p.Ile183Phe)	CIDEC (I183F +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1336007	NM_001321142.2(CIDEC):c.545G>A (p.Arg182His)	CIDEC (R108H +3 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 434768	NM_001321142.2(CIDEC):c.467T>C (p.Ile156Thr)	CIDEC (I156T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2475855	NM_001321142.2(CIDEC):c.424C>T (p.Arg142Cys)	CIDEC (R142C +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2290009	NM_001321142.2(CIDEC):c.389T>C (p.Leu130Pro)	CIDEC (L140P +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 717831	NM_001321142.2(CIDEC):c.387C>G (p.Ser129=)	CIDEC	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3144988	NM_001321142.2(CIDEC):c.380C>T (p.Pro127Leu)	CIDEC (P127L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3267354	NM_001321142.2(CIDEC):c.371C>T (p.Thr124Ile)	CIDEC (T137I +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3046980	NM_001321142.2(CIDEC):c.366+10C>T	CIDEC	Single nucleotide variant (intron variant)	CIDEC-related disorder	GLikely benign
Select item 2252784	NM_001321142.2(CIDEC):c.356C>T (p.Pro119Leu)	CIDEC (P119L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3144987	NM_001321142.2(CIDEC):c.340C>G (p.Gln114Glu)	CIDEC (Q40E +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2617664	NM_001321142.2(CIDEC):c.329T>C (p.Leu110Pro)	CIDEC (L123P +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2612947	NM_001321142.2(CIDEC):c.292T>C (p.Phe98Leu)	CIDEC (F108L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 713060	NM_001321142.2(CIDEC):c.264T>C (p.Asp88=)	CIDEC	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2682827	NM_001321142.2(CIDEC):c.212G>A (p.Arg71Gln)	CIDEC (R71Q +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1226987	NM_001321142.2(CIDEC):c.208-91C>T	CIDEC	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2653503	NM_001321142.2(CIDEC):c.208-143C>A	CIDEC (P73T)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 1233317	NM_001321142.2(CIDEC):c.207+294_207+308del	CIDEC	Deletion (intron variant)	not provided	GBenign
Select item 1237092	NM_001321142.2(CIDEC):c.207+180G>A	CIDEC	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 128771	NM_001321142.2(CIDEC):c.181T>C (p.Tyr61His)	CIDEC (Y61H +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GBenign
Select item 713900	NM_001321142.2(CIDEC):c.175A>G (p.Met59Val)	CIDEC (M72V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 3144986	NM_001321142.2(CIDEC):c.160G>C (p.Val54Leu)	CIDEC (V67L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1336008	NM_001321142.2(CIDEC):c.160G>A (p.Val54Met)	CIDEC (V54M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2208593	NM_001321142.2(CIDEC):c.155G>A (p.Arg52Gln)	CIDEC (R65Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 128770	NM_001321142.2(CIDEC):c.146C>T (p.Thr49Met)	CIDEC (T49M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GBenign
Select item 713341	NM_001321142.2(CIDEC):c.139G>A (p.Val47Ile)	CIDEC (V60I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GLikely benign
Select item 1693862	NM_001321142.2(CIDEC):c.136C>T (p.Arg46Cys)	CIDEC (R46C +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2393147	NM_001321142.2(CIDEC):c.127C>T (p.Arg43Trp)	CIDEC (R56W +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3144991	NM_001321142.2(CIDEC):c.97T>C (p.Ser33Pro)	CIDEC (S33P +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 128774	NM_001321142.2(CIDEC):c.96G>T (p.Leu32=)	CIDEC	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign
Select item 2215540	NM_001321142.2(CIDEC):c.88C>G (p.Gln30Glu)	CIDEC (Q30E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1247458	NM_001321142.2(CIDEC):c.53+77T>A	CIDEC	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 128772	NM_001321142.2(CIDEC):c.33C>G (p.Leu11=)	CIDEC	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 1269058	NM_001321142.2(CIDEC):c.-25-52G>T	CIDEC	Single nucleotide variant (intron variant)	not provided	GBenign

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Items: 47