"Ambry Genetics"[submitter] AND "UGT2B4"[gene] - ClinVar

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Items: 54

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2400188	NM_021139.3(UGT2B4):c.1572G>C (p.Lys524Asn)	UGT2B4 (K524N +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2616092	NM_021139.3(UGT2B4):c.1510G>A (p.Val504Met)	UGT2B4 (V368M +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3330883	NM_021139.3(UGT2B4):c.1499G>T (p.Cys500Phe)	UGT2B4 (C364F +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2270940	NM_021139.3(UGT2B4):c.1496C>T (p.Ala499Val)	UGT2B4 (A363V +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2592535	NM_021139.3(UGT2B4):c.1429C>T (p.Arg477Trp)	UGT2B4 (R341W +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2616091	NM_021139.3(UGT2B4):c.1386C>A (p.Phe462Leu)	UGT2B4 (F462L +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2616090	NM_021139.3(UGT2B4):c.1385T>A (p.Phe462Tyr)	UGT2B4 (F326Y +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3186220	NM_021139.3(UGT2B4):c.1358C>T (p.Pro453Leu)	UGT2B4 (P317L +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2243612	NM_021139.3(UGT2B4):c.1351G>C (p.Asp451His)	UGT2B4 (D315H +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2548976	NM_021139.3(UGT2B4):c.1318G>A (p.Glu440Lys)	UGT2B4 (E304K +1 more)	Single nucleotide variant (synonymous variant +1 more)	not specified	GUncertain significance
Select item 2486378	NM_021139.3(UGT2B4):c.1286T>C (p.Leu429Pro)	UGT2B4 (L293P +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3186219	NM_021139.3(UGT2B4):c.1262C>G (p.Ser421Trp)	UGT2B4 (S285W +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3330885	NM_021139.3(UGT2B4):c.1258A>G (p.Met420Val)	UGT2B4 (M420V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3186218	NM_021139.3(UGT2B4):c.1234G>A (p.Ala412Thr)	UGT2B4 (A276T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2267623	NM_021139.3(UGT2B4):c.1138A>G (p.Ile380Val)	UGT2B4 (I380V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2595366	NM_021139.3(UGT2B4):c.1061A>G (p.Tyr354Cys)	UGT2B4 (Y218C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2309950	NM_021139.3(UGT2B4):c.990G>T (p.Lys330Asn)	UGT2B4 (K194N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2595527	NM_021139.3(UGT2B4):c.986C>G (p.Ala329Gly)	UGT2B4 (A193G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3186228	NM_021139.3(UGT2B4):c.959G>T (p.Arg320Met)	UGT2B4 (R320M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3330884	NM_021139.3(UGT2B4):c.883T>C (p.Phe295Leu)	UGT2B4 (F159L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2612080	NM_021139.3(UGT2B4):c.876G>A (p.Met292Ile)	UGT2B4 (M156I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2393980	NM_021139.3(UGT2B4):c.844T>C (p.Cys282Arg)	UGT2B4 (C282R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2271727	NM_021139.3(UGT2B4):c.842A>T (p.His281Leu)	UGT2B4 (H145L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3186227	NM_021139.3(UGT2B4):c.829G>T (p.Val277Phe)	UGT2B4 (V141F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3186226	NM_021139.3(UGT2B4):c.784T>C (p.Trp262Arg)	UGT2B4 (W126R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2249371	NM_021139.3(UGT2B4):c.765A>G (p.Ile255Met)	UGT2B4 (I119M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3330882	NM_021139.3(UGT2B4):c.749T>C (p.Met250Thr)	UGT2B4 (M250T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2408889	NM_021139.3(UGT2B4):c.737T>C (p.Leu246Ser)	UGT2B4 (L110S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3186225	NM_021139.3(UGT2B4):c.734C>T (p.Thr245Met)	UGT2B4 (T245M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3186224	NM_021139.3(UGT2B4):c.676A>T (p.Ile226Leu)	UGT2B4 (I90L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2353710	NM_021139.3(UGT2B4):c.643A>T (p.Ile215Phe)	UGT2B4 (I79F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2478660	NM_021139.3(UGT2B4):c.629G>C (p.Arg210Thr)	UGT2B4 (R74T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3186223	NM_021139.3(UGT2B4):c.610C>A (p.Gln204Lys)	UGT2B4 (Q204K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2286701	NM_021139.3(UGT2B4):c.595T>G (p.Ser199Ala)	UGT2B4 (S199A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2553123	NM_021139.3(UGT2B4):c.587T>C (p.Val196Ala)	UGT2B4 (V60A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2491168	NM_021139.3(UGT2B4):c.578A>G (p.Tyr193Cys)	UGT2B4 (Y57C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3330879	NM_021139.3(UGT2B4):c.568C>T (p.Pro190Ser)	UGT2B4 (P54S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2535304	NM_021139.3(UGT2B4):c.557G>A (p.Gly186Glu)	UGT2B4 (G50E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2468378	NM_021139.3(UGT2B4):c.535G>A (p.Ala179Thr)	UGT2B4 (A179T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2472729	NM_021139.3(UGT2B4):c.520T>C (p.Phe174Leu)	UGT2B4 (F38L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2245006	NM_021139.3(UGT2B4):c.484G>A (p.Glu162Lys)	UGT2B4 (E26K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3330880	NM_021139.3(UGT2B4):c.430A>G (p.Arg144Gly)	UGT2B4 (R144G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3186222	NM_021139.3(UGT2B4):c.331C>G (p.Gln111Glu)	UGT2B4 (Q111E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2561150	NM_021139.3(UGT2B4):c.329C>T (p.Ser110Leu)	UGT2B4 (S110L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3186221	NM_021139.3(UGT2B4):c.316T>A (p.Trp106Arg)	UGT2B4 (W106R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2465134	NM_021139.3(UGT2B4):c.311C>G (p.Thr104Arg)	UGT2B4 (T104R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2609374	NM_021139.3(UGT2B4):c.233C>A (p.Pro78His)	UGT2B4 (P78H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2510734	NM_021139.3(UGT2B4):c.232C>A (p.Pro78Thr)	UGT2B4 (P78T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2394119	NM_021139.3(UGT2B4):c.155A>G (p.Glu52Gly)	UGT2B4 (E52G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2480940	NM_021139.3(UGT2B4):c.139G>C (p.Val47Leu)	UGT2B4 (V47L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2272446	NM_021139.3(UGT2B4):c.121A>T (p.Thr41Ser)	UGT2B4 (T41S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3330881	NM_021139.3(UGT2B4):c.117A>G (p.Ile39Met)	UGT2B4 (I39M)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2297303	NM_021139.3(UGT2B4):c.46T>C (p.Cys16Arg)	UGT2B4 (C16R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2339946	NM_021139.3(UGT2B4):c.5C>T (p.Ser2Phe)	UGT2B4 (S2F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance

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Items: 54