"Ambry Genetics"[submitter] AND "UTP14A"[gene] - ClinVar

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Items: 37

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2524524	NM_006649.4(UTP14A):c.34G>A (p.Ala12Thr)	LOC105373335, UTP14A (A12T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3187883	NM_006649.4(UTP14A):c.62A>T (p.Asp21Val)	LOC105373335, UTP14A (D21V)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2304268	NM_006649.4(UTP14A):c.97G>A (p.Asp33Asn)	LOC105373335, UTP14A (D33N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2401978	NM_006649.4(UTP14A):c.106G>T (p.Asp36Tyr)	UTP14A, LOC105373335 (D36Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3187876	NM_006649.4(UTP14A):c.110A>G (p.Asn37Ser)	LOC105373335, UTP14A (N37S)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GLikely benign
Select item 2295649	NM_006649.4(UTP14A):c.161A>T (p.Asp54Val)	LOC105373335, UTP14A (D54V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3187879	NM_006649.4(UTP14A):c.183G>C (p.Leu61Phe)	LOC105373335, UTP14A (L61F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2598421	NM_006649.4(UTP14A):c.311A>G (p.Lys104Arg)	LOC105373335, UTP14A (K104R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3187882	NM_006649.4(UTP14A):c.412G>A (p.Ala138Thr)	LOC105373335, UTP14A (A138T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2526799	NM_006649.4(UTP14A):c.442G>A (p.Val148Ile)	LOC105373335, UTP14A (V148I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3187884	NM_006649.4(UTP14A):c.638G>A (p.Arg213Gln)	LOC105373335, UTP14A (R161Q +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2291980	NM_006649.4(UTP14A):c.725G>A (p.Arg242Gln)	LOC105373335, UTP14A (R242Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2303479	NM_006649.4(UTP14A):c.790G>A (p.Ala264Thr)	LOC105373335, UTP14A (A212T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2320854	NM_006649.4(UTP14A):c.802T>A (p.Phe268Ile)	LOC105373335, UTP14A (F268I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2356060	NM_006649.4(UTP14A):c.826C>T (p.Pro276Ser)	LOC105373335, UTP14A (P224S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2208374	NM_006649.4(UTP14A):c.857T>C (p.Ile286Thr)	LOC105373335, UTP14A (I286T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2310114	NM_006649.4(UTP14A):c.904A>C (p.Ser302Arg)	LOC105373335, UTP14A (S302R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2215248	NM_006649.4(UTP14A):c.967A>G (p.Met323Val)	LOC105373335, UTP14A (M271V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2340354	NM_006649.4(UTP14A):c.1033G>A (p.Glu345Lys)	LOC105373335, UTP14A (E345K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2596794	NM_006649.4(UTP14A):c.1045G>T (p.Gly349Cys)	LOC105373335, UTP14A (G297C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2373390	NM_006649.4(UTP14A):c.1115C>G (p.Pro372Arg)	LOC105373335, UTP14A (P372R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1205987	NM_006649.4(UTP14A):c.1186C>A (p.Leu396Met)	UTP14A, LOC105373335 (L344M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3187877	NM_006649.4(UTP14A):c.1305G>C (p.Glu435Asp)	LOC105373335, UTP14A (E383D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2515132	NM_006649.4(UTP14A):c.1501T>A (p.Leu501Met)	LOC105373335, UTP14A (L449M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2470909	NM_006649.4(UTP14A):c.1522G>A (p.Val508Ile)	LOC105373335, UTP14A (V456I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2319706	NM_006649.4(UTP14A):c.1532T>C (p.Leu511Pro)	LOC105373335, UTP14A (L459P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2518337	NM_006649.4(UTP14A):c.1657A>G (p.Lys553Glu)	LOC105373335, UTP14A (K501E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2355767	NM_006649.4(UTP14A):c.1689C>A (p.Asn563Lys)	LOC105373335, UTP14A (N511K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2597601	NM_006649.4(UTP14A):c.1739T>C (p.Ile580Thr)	LOC105373335, UTP14A (I528T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3187878	NM_006649.4(UTP14A):c.1772A>G (p.His591Arg)	LOC105373335, UTP14A (H539R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2262658	NM_006649.4(UTP14A):c.1932G>C (p.Lys644Asn)	LOC105373335, UTP14A (K592N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2222078	NM_006649.4(UTP14A):c.1937G>C (p.Arg646Thr)	LOC105373335, UTP14A (R646T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2661408	NM_006649.4(UTP14A):c.1944G>A (p.Arg648=)	LOC105373335, UTP14A	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 3187880	NM_006649.4(UTP14A):c.1958C>T (p.Ala653Val)	LOC105373335, UTP14A (A601V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2300937	NM_006649.4(UTP14A):c.2173C>T (p.Pro725Ser)	LOC105373335, UTP14A (P725S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2518217	NM_006649.4(UTP14A):c.2218C>T (p.Arg740Trp)	LOC105373335, UTP14A (R688W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3187881	NM_006649.4(UTP14A):c.2252A>G (p.Gln751Arg)	LOC105373335, UTP14A (Q699R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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Items: 37