"Ambry Genetics"[submitter] AND "UTP14C"[gene] - ClinVar

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Items: 34

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2242777	NM_001004127.3(ALG11):c.1267A>G (p.Lys423Glu)	ALG11, UTP14C (K423E)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2533754	NM_001004127.3(ALG11):c.1291G>A (p.Glu431Lys)	ALG11, UTP14C (E431K)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2296277	NM_021645.6(UTP14C):c.121A>G (p.Lys41Glu)	ALG11, UTP14C (K41E)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2368373	NM_021645.6(UTP14C):c.145A>G (p.Ile49Val)	ALG11, UTP14C (I49V)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3187888	NM_021645.6(UTP14C):c.467T>C (p.Leu156Pro)	ALG11, UTP14C (L156P)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 883956	NM_021645.6(UTP14C):c.470T>G (p.Val157Gly)	ALG11, UTP14C (V157G)	Single nucleotide variant (3 prime UTR variant +2 more)	ALG11-congenital disorder of glycosylation +1 more	GUncertain significance
Select item 2266119	NM_021645.6(UTP14C):c.542C>T (p.Thr181Ile)	ALG11, UTP14C (T181I)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3187889	NM_021645.6(UTP14C):c.554A>G (p.Gln185Arg)	ALG11, UTP14C (Q185R)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2342439	NM_021645.6(UTP14C):c.642G>A (p.Met214Ile)	ALG11, UTP14C (M214I)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2516718	NM_021645.6(UTP14C):c.664C>G (p.His222Asp)	ALG11, UTP14C (H222D)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2349555	NM_021645.6(UTP14C):c.668G>A (p.Arg223Gln)	ALG11, UTP14C (R223Q)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2223620	NM_021645.6(UTP14C):c.704A>G (p.Tyr235Cys)	ALG11, UTP14C (Y235C)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2607673	NM_021645.6(UTP14C):c.778G>T (p.Ala260Ser)	ALG11, UTP14C (A260S)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2488886	NM_021645.6(UTP14C):c.860A>T (p.Asn287Ile)	ALG11, UTP14C (N287I)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2539832	NM_021645.6(UTP14C):c.1025G>A (p.Ser342Asn)	ALG11, UTP14C (S342N)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2345570	NM_021645.6(UTP14C):c.1038G>C (p.Glu346Asp)	ALG11, UTP14C (E346D)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2539803	NM_021645.6(UTP14C):c.1058A>G (p.Glu353Gly)	ALG11, UTP14C (E353G)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2220814	NM_021645.6(UTP14C):c.1072C>T (p.His358Tyr)	ALG11, UTP14C (H358Y)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2597058	NM_021645.6(UTP14C):c.1109C>T (p.Pro370Leu)	ALG11, UTP14C (P370L)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2304514	NM_021645.6(UTP14C):c.1111A>G (p.Asn371Asp)	ALG11, UTP14C (N371D)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3187885	NM_021645.6(UTP14C):c.1122G>T (p.Met374Ile)	ALG11, UTP14C (M374I)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2258528	NM_021645.6(UTP14C):c.1144A>C (p.Thr382Pro)	ALG11, UTP14C (T382P)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2216963	NM_021645.6(UTP14C):c.1384T>C (p.Ser462Pro)	ALG11, UTP14C (S462P)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2372608	NM_021645.6(UTP14C):c.1468C>A (p.Pro490Thr)	ALG11, UTP14C (P490T)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2298590	NM_021645.6(UTP14C):c.1702C>T (p.Pro568Ser)	ALG11, UTP14C (P568S)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2596090	NM_021645.6(UTP14C):c.1850C>T (p.Ala617Val)	ALG11, UTP14C (A617V)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2268828	NM_021645.6(UTP14C):c.1864G>T (p.Asp622Tyr)	ALG11, UTP14C (D622Y)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2607867	NM_021645.6(UTP14C):c.1880T>C (p.Leu627Pro)	ALG11, UTP14C (L627P)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3187886	NM_021645.6(UTP14C):c.1970C>T (p.Pro657Leu)	ALG11, UTP14C (P657L)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2597400	NM_021645.6(UTP14C):c.2014C>T (p.Arg672Cys)	ALG11, UTP14C (R672C)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2294295	NM_021645.6(UTP14C):c.2066C>T (p.Thr689Ile)	ALG11, UTP14C (T689I)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3187887	NM_021645.6(UTP14C):c.2075G>A (p.Arg692Gln)	ALG11, UTP14C (R692Q)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2379901	NM_021645.6(UTP14C):c.2275C>T (p.Arg759Cys)	ALG11, UTP14C (R759C)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2460879	NM_021645.6(UTP14C):c.2276G>A (p.Arg759His)	ALG11, UTP14C (R759H)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance

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Items: 34