ClinVar for Gene (Select 100526794) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3431714	NM_020905.4(RDH14):c.229C>T (p.Arg77Cys)	LOC129933177, NT5C1B-RDH14 +1 more (R77C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3431713	NM_020905.4(RDH14):c.632A>G (p.Tyr211Cys)	NT5C1B-RDH14, RDH14 (Y525C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3431712	NM_020905.4(RDH14):c.283G>A (p.Ala95Thr)	LOC129933177, NT5C1B-RDH14 +1 more (A95T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3431711	NM_020905.4(RDH14):c.487G>A (p.Val163Met)	NT5C1B-RDH14, RDH14 (V163M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3431710	NM_020905.4(RDH14):c.223C>G (p.Arg75Gly)	LOC129933177, NT5C1B-RDH14 +1 more (R75G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3431709	NM_020905.4(RDH14):c.728A>G (p.Asn243Ser)	NT5C1B-RDH14, RDH14 (N557S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3431708	NM_020905.4(RDH14):c.615G>C (p.Leu205Phe)	NT5C1B-RDH14, RDH14 (L205F +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3431707	NM_020905.4(RDH14):c.122T>G (p.Met41Arg)	RDH14, LOC129933177 +1 more (M41R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3431705	NM_020905.4(RDH14):c.296C>T (p.Pro99Leu)	LOC129933177, NT5C1B-RDH14 +1 more (P99L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3408133	NM_033253.4(NT5C1B):c.193T>C (p.Ser65Pro)	NT5C1B, NT5C1B-RDH14 (S108P +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3408132	NM_033253.4(NT5C1B):c.617A>G (p.Glu206Gly)	NT5C1B, NT5C1B-RDH14 (E268G +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3408131	NM_033253.4(NT5C1B):c.926T>C (p.Leu309Pro)	NT5C1B, NT5C1B-RDH14 (L309P +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3408130	NM_033253.4(NT5C1B):c.673T>G (p.Ser225Ala)	NT5C1B, NT5C1B-RDH14 (S225A +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3408129	NM_033253.4(NT5C1B):c.514C>T (p.Pro172Ser)	NT5C1B, NT5C1B-RDH14 (P249S +5 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3408128	NM_033253.4(NT5C1B):c.1553G>A (p.Arg518Gln)	NT5C1B, NT5C1B-RDH14 (R561Q +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3408127	NM_033253.4(NT5C1B):c.886G>A (p.Val296Ile)	NT5C1B, NT5C1B-RDH14 (V296I +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3408126	NM_033253.4(NT5C1B):c.1295A>G (p.Tyr432Cys)	NT5C1B, NT5C1B-RDH14 (Y432C +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3408125	NM_033253.4(NT5C1B):c.1208G>A (p.Arg403His)	NT5C1B, NT5C1B-RDH14 (R463H +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3408124	NM_033253.4(NT5C1B):c.1459C>T (p.Arg487Cys)	NT5C1B, NT5C1B-RDH14 (R549C +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3313458	NM_020905.4(RDH14):c.263G>C (p.Arg88Pro)	LOC129933177, NT5C1B-RDH14 +1 more (R88P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3313457	NM_020905.4(RDH14):c.848C>T (p.Ala283Val)	NT5C1B-RDH14, RDH14 (A597V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3313456	NM_020905.4(RDH14):c.80C>G (p.Pro27Arg)	LOC129933177, NT5C1B-RDH14 +1 more (P27R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3313455	NM_020905.4(RDH14):c.64C>T (p.Arg22Cys)	LOC129933177, NT5C1B-RDH14 +1 more (R22C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3313454	NM_020905.4(RDH14):c.799C>G (p.Leu267Val)	NT5C1B-RDH14, RDH14 (L267V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3313453	NM_020905.4(RDH14):c.608A>G (p.Asp203Gly)	NT5C1B-RDH14, RDH14 (D517G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3301216	NM_033253.4(NT5C1B):c.632A>G (p.Gln211Arg)	NT5C1B, NT5C1B-RDH14 (Q213R +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3301215	NM_033253.4(NT5C1B):c.305G>A (p.Ser102Asn)	NT5C1B, NT5C1B-RDH14 (S145N +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3301214	NM_033253.4(NT5C1B):c.1552C>T (p.Arg518Trp)	NT5C1B, NT5C1B-RDH14 (R578W +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3202490	NM_033253.4(NT5C1B):c.761C>T (p.Ser254Phe)	NT5C1B, NT5C1B-RDH14 (S314F +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3202489	NM_033253.4(NT5C1B):c.637G>C (p.Glu213Gln)	NT5C1B, NT5C1B-RDH14 (E213Q +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3202488	NM_033253.4(NT5C1B):c.283C>T (p.Arg95Trp)	NT5C1B, NT5C1B-RDH14 (R155W +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3202487	NM_033253.4(NT5C1B):c.239G>A (p.Ser80Asn)	NT5C1B, NT5C1B-RDH14 (S123N +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3202486	NM_033253.4(NT5C1B):c.36G>C (p.Glu12Asp)	NT5C1B, NT5C1B-RDH14 (E12D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3202485	NM_033253.4(NT5C1B):c.1643T>C (p.Phe548Ser)	NT5C1B, NT5C1B-RDH14 (F610S +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3202484	NM_033253.4(NT5C1B):c.1631T>C (p.Phe544Ser)	NT5C1B, NT5C1B-RDH14 (F587S +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3202483	NM_033253.4(NT5C1B):c.1474C>T (p.Leu492Phe)	NT5C1B, NT5C1B-RDH14 (L552F +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3202482	NM_033253.4(NT5C1B):c.120+378C>G	NT5C1B, NT5C1B-RDH14 (Q57E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3202481	NM_033253.4(NT5C1B):c.120+358C>T	NT5C1B, NT5C1B-RDH14 (S50L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3202480	NM_033253.4(NT5C1B):c.1098G>C (p.Leu366Phe)	NT5C1B, NT5C1B-RDH14 (L366F +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3202479	NM_033253.4(NT5C1B):c.919C>T (p.Arg307Cys)	NT5C1B, NT5C1B-RDH14 (R307C +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3202478	NM_033253.4(NT5C1B):c.881G>C (p.Arg294Pro)	NT5C1B, NT5C1B-RDH14 (R337P +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3202477	NM_033253.4(NT5C1B):c.847G>A (p.Glu283Lys)	NT5C1B, NT5C1B-RDH14 (E285K +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3202476	NM_033253.4(NT5C1B):c.782T>G (p.Val261Gly)	NT5C1B, NT5C1B-RDH14 (V263G +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3152793	NM_020905.4(RDH14):c.908T>C (p.Phe303Ser)	NT5C1B-RDH14, RDH14 (F617S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3152791	NM_020905.4(RDH14):c.884T>C (p.Val295Ala)	NT5C1B-RDH14, RDH14 (V609A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3152790	NM_020905.4(RDH14):c.682A>G (p.Thr228Ala)	NT5C1B-RDH14, RDH14 (T542A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3152789	NM_020905.4(RDH14):c.32C>A (p.Ala11Asp)	LOC129933177, NT5C1B-RDH14 +1 more (A11D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3152788	NM_020905.4(RDH14):c.296C>G (p.Pro99Arg)	LOC129933177, NT5C1B-RDH14 +1 more (P99R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3152787	NM_020905.4(RDH14):c.148G>T (p.Gly50Trp)	LOC129933177, NT5C1B-RDH14 +1 more (G50W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3152786	NM_020905.4(RDH14):c.113C>T (p.Pro38Leu)	LOC129933177, NT5C1B-RDH14 +1 more (P38L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3152785	NM_020905.4(RDH14):c.10G>C (p.Ala4Pro)	LOC129933177, NT5C1B-RDH14 +1 more (A4P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3152784	NM_020905.4(RDH14):c.104G>A (p.Gly35Asp)	LOC129933177, NT5C1B-RDH14 +1 more (G35D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3148883	GRCh37/hg19 2p25.3-22.3(chr2:12771-35541353)x3	ABHD1, ACP1 +182 more	Copy number gain	See cases	GPathogenic
Select item 3062591	GRCh37/hg19 2p25.2-24.1(chr2:6375088-23538518)x3	APOB, ASAP2 +59 more	Copy number gain	not specified	GPathogenic
Select item 2618691	NM_020905.4(RDH14):c.854C>T (p.Thr285Ile)	NT5C1B-RDH14, RDH14 (T285I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2611536	NM_020905.4(RDH14):c.328A>G (p.Ile110Val)	LOC129933177, NT5C1B-RDH14 +1 more (I110V)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2609027	NM_033253.4(NT5C1B):c.433C>T (p.Arg145Cys)	NT5C1B, NT5C1B-RDH14 (R145C +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2607709	NM_033253.4(NT5C1B):c.703A>G (p.Ser235Gly)	NT5C1B, NT5C1B-RDH14 (S237G +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2603241	NM_033253.4(NT5C1B):c.120+467G>T	NT5C1B, NT5C1B-RDH14 (M86I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2599640	NM_033253.4(NT5C1B):c.196C>T (p.Arg66Trp)	NT5C1B, NT5C1B-RDH14 (R109W +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2591314	NM_033253.4(NT5C1B):c.252T>G (p.Ser84Arg)	NT5C1B, NT5C1B-RDH14 (S144R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2588328	NM_033253.4(NT5C1B):c.120+448T>C	NT5C1B, NT5C1B-RDH14 (I63T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2588178	NM_033253.4(NT5C1B):c.107G>A (p.Arg36His)	NT5C1B, NT5C1B-RDH14 (R36H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2554525	NM_020905.4(RDH14):c.751C>T (p.Arg251Trp)	NT5C1B-RDH14, RDH14 (R565W +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2551755	NM_033253.4(NT5C1B):c.418G>A (p.Asp140Asn)	NT5C1B, NT5C1B-RDH14 (D183N +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2547519	NM_033253.4(NT5C1B):c.814C>A (p.Leu272Met)	NT5C1B, NT5C1B-RDH14 (L272M +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2543900	NM_020905.4(RDH14):c.635A>T (p.Asn212Ile)	NT5C1B-RDH14, RDH14 (N212I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2537751	NM_033253.4(NT5C1B):c.1411A>G (p.Ile471Val)	NT5C1B, NT5C1B-RDH14 (I548V +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2532851	NM_033253.4(NT5C1B):c.362C>G (p.Ala121Gly)	NT5C1B, NT5C1B-RDH14 (A181G +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2531246	NM_033253.4(NT5C1B):c.1396C>T (p.Arg466Trp)	NT5C1B, NT5C1B-RDH14 (R509W +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2526869	NM_033253.4(NT5C1B):c.1271A>G (p.His424Arg)	NT5C1B, NT5C1B-RDH14 (H501R +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2523797	NM_033253.4(NT5C1B):c.60G>C (p.Glu20Asp)	NT5C1B, NT5C1B-RDH14 (E20D)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2521453	NM_033253.4(NT5C1B):c.1628G>T (p.Gly543Val)	NT5C1B, NT5C1B-RDH14 (G543V +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2493551	NM_020905.4(RDH14):c.299A>G (p.Glu100Gly)	LOC129933177, NT5C1B-RDH14 +1 more (E100G)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2484780	NM_020905.4(RDH14):c.538A>G (p.Lys180Glu)	NT5C1B-RDH14, RDH14 (K494E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2472727	NM_020905.4(RDH14):c.335G>A (p.Arg112Gln)	LOC129933177, NT5C1B-RDH14 +1 more (R112Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2469373	NM_020905.4(RDH14):c.86T>A (p.Val29Asp)	LOC129933177, NT5C1B-RDH14 +1 more (V29D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2465604	NM_033253.4(NT5C1B):c.217C>T (p.Pro73Ser)	NT5C1B, NT5C1B-RDH14 (P116S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2457606	NM_033253.4(NT5C1B):c.120+450C>T	NT5C1B, NT5C1B-RDH14 (R81C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2455157	NM_033253.4(NT5C1B):c.361G>C (p.Ala121Pro)	NT5C1B, NT5C1B-RDH14 (A121P +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2407514	NM_033253.4(NT5C1B):c.120+399C>T	NT5C1B, NT5C1B-RDH14 (R47C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2398518	NM_020905.4(RDH14):c.794A>T (p.Lys265Ile)	NT5C1B-RDH14, RDH14 (K579I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2383548	NM_033253.4(NT5C1B):c.197G>A (p.Arg66Gln)	NT5C1B, NT5C1B-RDH14 (R109Q +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2373517	NM_020905.4(RDH14):c.46G>C (p.Ala16Pro)	RDH14, LOC129933177 +1 more (A16P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2360778	NM_033253.4(NT5C1B):c.1345T>C (p.Phe449Leu)	NT5C1B, NT5C1B-RDH14 (F509L +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2358408	NM_033253.4(NT5C1B):c.780G>C (p.Met260Ile)	NT5C1B, NT5C1B-RDH14 (M322I +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2349894	NM_020905.4(RDH14):c.145A>G (p.Thr49Ala)	LOC129933177, NT5C1B-RDH14 +1 more (T49A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2349634	NM_033253.4(NT5C1B):c.1589T>C (p.Ile530Thr)	NT5C1B, NT5C1B-RDH14 (I573T +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2348681	NM_033253.4(NT5C1B):c.120+421G>C	NT5C1B, NT5C1B-RDH14 (G71A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2337164	NM_020905.4(RDH14):c.161G>A (p.Gly54Asp)	LOC129933177, NT5C1B-RDH14 +1 more (G54D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2332477	NM_033253.4(NT5C1B):c.173G>T (p.Arg58Leu)	NT5C1B, NT5C1B-RDH14 (R118L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2311957	NM_033253.4(NT5C1B):c.616G>C (p.Glu206Gln)	NT5C1B, NT5C1B-RDH14 (E268Q +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2307903	NM_020905.4(RDH14):c.961G>T (p.Ala321Ser)	NT5C1B-RDH14, RDH14 (A321S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2299440	NM_033253.4(NT5C1B):c.533C>T (p.Thr178Met)	NT5C1B, NT5C1B-RDH14 (T178M +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2299439	NM_033253.4(NT5C1B):c.1204C>T (p.Leu402Phe)	NT5C1B, NT5C1B-RDH14 (L404F +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2294683	NM_020905.4(RDH14):c.125A>G (p.His42Arg)	LOC129933177, NT5C1B-RDH14 +1 more (H42R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2288578	NM_033253.4(NT5C1B):c.502C>T (p.Arg168Trp)	NT5C1B, NT5C1B-RDH14 (R211W +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2277730	NM_033253.4(NT5C1B):c.610C>G (p.Leu204Val)	NT5C1B, NT5C1B-RDH14 (L264V +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2274135	NM_033253.4(NT5C1B):c.760T>A (p.Ser254Thr)	NT5C1B, NT5C1B-RDH14 (S256T +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2273667	NM_033253.4(NT5C1B):c.1272T>A (p.His424Gln)	NT5C1B, NT5C1B-RDH14 (H486Q +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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