ClinVar for Gene (Select 338323) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3200608	NM_176822.4(NLRP14):c.920C>G (p.Thr307Arg)	NLRP14 (T307R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3200606	NM_176822.4(NLRP14):c.473A>C (p.Asp158Ala)	NLRP14 (D158A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3200604	NM_176822.4(NLRP14):c.3040A>G (p.Lys1014Glu)	NLRP14 (K1014E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3200603	NM_176822.4(NLRP14):c.3032T>C (p.Ile1011Thr)	NLRP14 (I1011T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3200602	NM_176822.4(NLRP14):c.2974G>A (p.Gly992Arg)	NLRP14 (G992R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3200601	NM_176822.4(NLRP14):c.2939C>G (p.Ala980Gly)	NLRP14 (A980G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3200600	NM_176822.4(NLRP14):c.2831C>T (p.Ala944Val)	NLRP14 (A944V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3200599	NM_176822.4(NLRP14):c.2398G>A (p.Asp800Asn)	NLRP14 (D800N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3200598	NM_176822.4(NLRP14):c.2347A>G (p.Ile783Val)	NLRP14 (I783V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3200597	NM_176822.4(NLRP14):c.229A>G (p.Lys77Glu)	NLRP14 (K77E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3200596	NM_176822.4(NLRP14):c.2210A>C (p.Lys737Thr)	NLRP14 (K737T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3200595	NM_176822.4(NLRP14):c.1672T>A (p.Ser558Thr)	NLRP14 (S558T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3200594	NM_176822.4(NLRP14):c.1577C>T (p.Thr526Ile)	NLRP14 (T526I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3200593	NM_176822.4(NLRP14):c.1358C>T (p.Thr453Ile)	NLRP14 (T453I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3200592	NM_176822.4(NLRP14):c.118C>A (p.Pro40Thr)	NLRP14 (P40T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3200591	NM_176822.4(NLRP14):c.1091G>C (p.Ser364Thr)	NLRP14 (S364T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3152520	NM_014469.5(RBMXL2):c.943T>C (p.Ser315Pro)	NLRP14, RBMXL2 (S315P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3152519	NM_014469.5(RBMXL2):c.877G>A (p.Ala293Thr)	NLRP14, RBMXL2 (A293T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3152518	NM_014469.5(RBMXL2):c.548C>G (p.Ala183Gly)	NLRP14, RBMXL2 (A183G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3152517	NM_014469.5(RBMXL2):c.519C>G (p.Ser173Arg)	NLRP14, RBMXL2 (S173R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3152516	NM_014469.5(RBMXL2):c.284G>A (p.Gly95Asp)	NLRP14, RBMXL2 (G95D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3152515	NM_014469.5(RBMXL2):c.277C>T (p.Arg93Trp)	NLRP14, RBMXL2 (R93W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3152513	NM_014469.5(RBMXL2):c.1099C>G (p.Arg367Gly)	NLRP14, RBMXL2 (R367G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3152512	NM_014469.5(RBMXL2):c.1024C>T (p.Arg342Trp)	NLRP14, RBMXL2 (R342W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3060875	NM_176822.4(NLRP14):c.2851T>A (p.Ser951Thr)	NLRP14 (S951T)	Single nucleotide variant (missense variant)	NLRP14-related condition	GBenign
Select item 3059287	NM_176822.4(NLRP14):c.2861T>C (p.Leu954Ser)	NLRP14 (L954S)	Single nucleotide variant (missense variant)	NLRP14-related condition	GBenign
Select item 3059218	NM_176822.4(NLRP14):c.293C>T (p.Ser98Leu)	NLRP14 (S98L)	Single nucleotide variant (missense variant)	NLRP14-related condition	GBenign
Select item 3058966	NM_176822.4(NLRP14):c.573C>T (p.Thr191=)	NLRP14	Single nucleotide variant (synonymous variant)	NLRP14-related condition	GLikely benign
Select item 3056667	NM_176822.4(NLRP14):c.152A>G (p.Lys51Arg)	NLRP14 (K51R)	Single nucleotide variant (missense variant)	NLRP14-related condition	GBenign
Select item 3055292	NM_176822.4(NLRP14):c.1296C>A (p.Ala432=)	NLRP14	Single nucleotide variant (synonymous variant)	NLRP14-related condition	GBenign
Select item 3053270	NM_176822.4(NLRP14):c.8A>G (p.Asp3Gly)	NLRP14 (D3G)	Single nucleotide variant (missense variant)	NLRP14-related condition	GBenign
Select item 3052777	NM_176822.4(NLRP14):c.61G>A (p.Glu21Lys)	NLRP14 (E21K)	Single nucleotide variant (missense variant)	NLRP14-related condition	GLikely benign
Select item 3051386	NM_176822.4(NLRP14):c.1382T>C (p.Met461Thr)	NLRP14 (M461T)	Single nucleotide variant (missense variant)	NLRP14-related condition	GLikely benign
Select item 3048967	NM_176822.4(NLRP14):c.48A>G (p.Leu16=)	NLRP14	Single nucleotide variant (synonymous variant)	NLRP14-related condition	GBenign
Select item 3044395	NM_176822.4(NLRP14):c.725G>A (p.Gly242Asp)	NLRP14 (G242D)	Single nucleotide variant (missense variant)	NLRP14-related condition	GBenign
Select item 3044246	NM_176822.4(NLRP14):c.1452G>A (p.Gln484=)	NLRP14	Single nucleotide variant (synonymous variant)	NLRP14-related condition	GLikely benign
Select item 3041280	NM_176822.4(NLRP14):c.3057G>A (p.Met1019Ile)	NLRP14 (M1019I)	Single nucleotide variant (missense variant)	NLRP14-related condition	GBenign
Select item 3041197	NM_176822.4(NLRP14):c.1958+6T>C	NLRP14	Single nucleotide variant (intron variant)	NLRP14-related condition	GLikely benign
Select item 3039322	NM_176822.4(NLRP14):c.1190C>T (p.Thr397Ile)	NLRP14 (T397I)	Single nucleotide variant (missense variant)	NLRP14-related condition	GLikely benign
Select item 3038082	NM_176822.4(NLRP14):c.36T>C (p.Asp12=)	NLRP14	Single nucleotide variant (synonymous variant)	NLRP14-related condition	GLikely benign
Select item 3037995	NM_176822.4(NLRP14):c.2249G>A (p.Cys750Tyr)	NLRP14 (C750Y)	Single nucleotide variant (missense variant)	NLRP14-related condition	GLikely benign
Select item 3033102	NM_176822.4(NLRP14):c.1321G>A (p.Val441Met)	NLRP14 (V441M)	Single nucleotide variant (missense variant)	NLRP14-related condition	GLikely benign
Select item 2684635	GRCh37/hg19 11p15.4(chr11:6801941-7136661)x3	NLRP14, OR10A2 +9 more	Copy number gain	not provided	GUncertain significance
Select item 2641574	NM_176822.4(NLRP14):c.3018C>A (p.Leu1006=)	NLRP14	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2641573	NM_176822.4(NLRP14):c.535G>A (p.Val179Met)	NLRP14 (V179M)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2622414	NM_176822.4(NLRP14):c.2888A>G (p.Asp963Gly)	NLRP14 (D963G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2612347	NM_176822.4(NLRP14):c.381A>C (p.Arg127Ser)	NLRP14 (R127S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2606174	NM_176822.4(NLRP14):c.901G>C (p.Ala301Pro)	NLRP14 (A301P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2602885	NM_176822.4(NLRP14):c.2607T>G (p.His869Gln)	NLRP14 (H869Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2602801	NM_014469.5(RBMXL2):c.493G>A (p.Ala165Thr)	NLRP14, RBMXL2 (A165T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2589350	NM_176822.4(NLRP14):c.1636A>G (p.Arg546Gly)	NLRP14 (R546G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2570567	NM_176822.4(NLRP14):c.1872C>A (p.His624Gln)	NLRP14 (H624Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2555607	NM_176822.4(NLRP14):c.454C>T (p.His152Tyr)	NLRP14 (H152Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2553700	NM_176822.4(NLRP14):c.2771T>C (p.Phe924Ser)	NLRP14 (F924S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2553510	NM_176822.4(NLRP14):c.526C>T (p.Pro176Ser)	NLRP14 (P176S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2550012	NM_014469.5(RBMXL2):c.935G>A (p.Arg312Gln)	NLRP14, RBMXL2 (R312Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2547864	NM_176822.4(NLRP14):c.3095T>G (p.Val1032Gly)	NLRP14 (V1032G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2546090	NM_014469.5(RBMXL2):c.523G>C (p.Gly175Arg)	NLRP14, RBMXL2 (G175R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2544045	NM_176822.4(NLRP14):c.1829G>A (p.Cys610Tyr)	NLRP14 (C610Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2540658	NM_014469.5(RBMXL2):c.941A>G (p.Tyr314Cys)	NLRP14, RBMXL2 (Y314C)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2536331	NM_176822.4(NLRP14):c.107A>T (p.Glu36Val)	NLRP14 (E36V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2535401	NM_176822.4(NLRP14):c.2047A>G (p.Ser683Gly)	NLRP14 (S683G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2520821	NM_014469.5(RBMXL2):c.811G>A (p.Gly271Arg)	NLRP14, RBMXL2 (G271R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2509904	NM_176822.4(NLRP14):c.415G>T (p.Asp139Tyr)	NLRP14 (D139Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2503522	GRCh37/hg19 11p15.5-15.4(chr11:230615-8821443)x3	C11orf42, MRGPRG +210 more	Copy number gain	Russell-Silver syndrome	GPathogenic
Select item 2489163	NM_014469.5(RBMXL2):c.686G>A (p.Arg229Gln)	NLRP14, RBMXL2 (R229Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2486365	NM_176822.4(NLRP14):c.155A>G (p.Lys52Arg)	NLRP14 (K52R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2479730	NM_176822.4(NLRP14):c.1059C>G (p.Phe353Leu)	NLRP14 (F353L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2475829	NM_014469.5(RBMXL2):c.1055T>A (p.Leu352Gln)	NLRP14, RBMXL2 (L352Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2470035	NM_176822.4(NLRP14):c.784G>A (p.Asp262Asn)	NLRP14 (D262N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2458206	NM_176822.4(NLRP14):c.2690T>C (p.Leu897Pro)	NLRP14 (L897P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2457671	NM_014469.5(RBMXL2):c.580C>A (p.Pro194Thr)	NLRP14, RBMXL2 (P194T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2397526	NM_176822.4(NLRP14):c.2097C>A (p.His699Gln)	NLRP14 (H699Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2397498	NM_014469.5(RBMXL2):c.610G>A (p.Asp204Asn)	NLRP14, RBMXL2 (D204N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2389103	NM_014469.5(RBMXL2):c.226G>A (p.Gly76Ser)	NLRP14, RBMXL2 (G76S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2387670	NM_176822.4(NLRP14):c.811C>A (p.Pro271Thr)	NLRP14 (P271T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2384604	NM_176822.4(NLRP14):c.517G>A (p.Gly173Ser)	NLRP14 (G173S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2383055	NM_176822.4(NLRP14):c.482T>C (p.Leu161Pro)	NLRP14 (L161P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2375063	NM_176822.4(NLRP14):c.288C>G (p.Asn96Lys)	NLRP14 (N96K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2373622	NM_176822.4(NLRP14):c.1843T>G (p.Leu615Val)	NLRP14 (L615V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2371493	NM_176822.4(NLRP14):c.1877G>A (p.Arg626Gln)	NLRP14 (R626Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2369224	NM_176822.4(NLRP14):c.1337A>G (p.Asn446Ser)	NLRP14 (N446S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2358511	NM_176822.4(NLRP14):c.697A>T (p.Ile233Leu)	NLRP14 (I233L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2352851	NM_176822.4(NLRP14):c.2075T>A (p.Ile692Asn)	NLRP14 (I692N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2350480	NM_176822.4(NLRP14):c.2642G>A (p.Arg881His)	NLRP14 (R881H)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2349212	NM_014469.5(RBMXL2):c.11C>G (p.Ala4Gly)	NLRP14, RBMXL2 (A4G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2346910	NM_176822.4(NLRP14):c.1760A>G (p.Tyr587Cys)	NLRP14 (Y587C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2346220	NM_176822.4(NLRP14):c.10T>A (p.Ser4Thr)	NLRP14 (S4T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2345795	NM_176822.4(NLRP14):c.1885C>T (p.Arg629Trp)	NLRP14 (R629W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2345061	NM_176822.4(NLRP14):c.452A>G (p.His151Arg)	NLRP14 (H151R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2343922	NM_014469.5(RBMXL2):c.1052C>G (p.Ser351Cys)	NLRP14, RBMXL2 (S351C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2334989	NM_176822.4(NLRP14):c.3160G>C (p.Ala1054Pro)	NLRP14 (A1054P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2316450	NM_176822.4(NLRP14):c.524A>G (p.Gln175Arg)	NLRP14 (Q175R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2312581	NM_176822.4(NLRP14):c.744G>T (p.Met248Ile)	NLRP14 (M248I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2303079	NM_176822.4(NLRP14):c.461T>C (p.Ile154Thr)	NLRP14 (I154T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2300775	NM_176822.4(NLRP14):c.343G>C (p.Asp115His)	NLRP14 (D115H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2293705	NM_176822.4(NLRP14):c.2265C>A (p.His755Gln)	NLRP14 (H755Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2293659	NM_176822.4(NLRP14):c.2285C>G (p.Thr762Ser)	NLRP14 (T762S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2289864	NM_176822.4(NLRP14):c.1634A>G (p.Glu545Gly)	NLRP14 (E545G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2288236	NM_014469.5(RBMXL2):c.677G>A (p.Arg226His)	NLRP14, RBMXL2 (R226H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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