NLRP14[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 151263	GRCh38/hg38 11p15.5-15.4(chr11:61793-10727969)x3	LOC130005128, LOC130005129 +723 more	Copy number gain	See cases	GPathogenic
Select item 144515	GRCh38/hg38 11p15.5-15.1(chr11:446754-18904742)x3	CHID1, CHRNA10 +917 more	Copy number gain	See cases	GPathogenic
Select item 1231883	NM_176822.4(NLRP14):c.-21-48T>A	NLRP14	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3053270	NM_176822.4(NLRP14):c.8A>G (p.Asp3Gly)	NLRP14 (D3G)	Single nucleotide variant (missense variant)	NLRP14-related disorder	GBenign
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 3038082	NM_176822.4(NLRP14):c.36T>C (p.Asp12=)	NLRP14	Single nucleotide variant (synonymous variant)	NLRP14-related disorder	GLikely benign
Select item 3048967	NM_176822.4(NLRP14):c.48A>G (p.Leu16=)	NLRP14	Single nucleotide variant (synonymous variant)	NLRP14-related disorder	GBenign
Select item 3052777	NM_176822.4(NLRP14):c.61G>A (p.Glu21Lys)	NLRP14 (E21K)	Single nucleotide variant (missense variant)	NLRP14-related disorder	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 3200592	NM_176822.4(NLRP14):c.118C>A (p.Pro40Thr)	NLRP14 (P40T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1234647	NM_176822.4(NLRP14):c.143A>C (p.Asn48Thr)	NLRP14 (N48T)	Single nucleotide variant (missense variant)	NLRP14-related disorder +1 more	GBenign
Select item 2215998	NM_176822.4(NLRP14):c.148G>T (p.Val50Leu)	NLRP14 (V50L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3056667	NM_176822.4(NLRP14):c.152A>G (p.Lys51Arg)	NLRP14 (K51R)	Single nucleotide variant (missense variant)	NLRP14-related disorder	GBenign
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 1245032	NM_176822.4(NLRP14):c.164G>A (p.Arg55Gln)	NLRP14 (R55Q)	Single nucleotide variant (missense variant)	NLRP14-related disorder +1 more	GBenign
Select item 2206734	NM_176822.4(NLRP14):c.169G>A (p.Asp57Asn)	NLRP14 (D57N)	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 979152	NM_176822.4(NLRP14):c.257A>T (p.Asp86Val)	NLRP14 (D86V)	Single nucleotide variant (missense variant)	Spermatogenic Failure	GBenign
Select item 1241370	NM_176822.4(NLRP14):c.275A>G (p.Lys92Arg)	NLRP14 (K92R)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
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 103348	NM_176822.4(NLRP14):c.289+28G>A	NLRP14	Single nucleotide variant (intron variant)	not provided	Gnot provided
Select item 1278365	NM_176822.4(NLRP14):c.289+131del	NLRP14	Deletion (intron variant)	not provided	GBenign
Select item 1235606	NM_176822.4(NLRP14):c.289+262_289+275del	NLRP14	Deletion (intron variant)	not provided	GBenign
Select item 1227247	NM_176822.4(NLRP14):c.290-275A>T	NLRP14	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3059218	NM_176822.4(NLRP14):c.293C>T (p.Ser98Leu)	NLRP14 (S98L)	Single nucleotide variant (missense variant)	NLRP14-related disorder	GBenign
Select item 235386	NM_176822.4(NLRP14):c.322A>T (p.Lys108Ter)	NLRP14 (K108*)	Single nucleotide variant (nonsense)	NLRP14-related disorder +3 more	GBenign
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 1272098	NM_176822.4(NLRP14):c.361+46T>G	NLRP14	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1263977	NM_176822.4(NLRP14):c.362-322A>G	NLRP14	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1269139	NM_176822.4(NLRP14):c.362-320T>C	NLRP14	Single nucleotide variant (intron variant)	not provided	GBenign
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 2509904	NM_176822.4(NLRP14):c.415G>T (p.Asp139Tyr)	NLRP14 (D139Y)	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 2555607	NM_176822.4(NLRP14):c.454C>T (p.His152Tyr)	NLRP14 (H152Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 3200606	NM_176822.4(NLRP14):c.473A>C (p.Asp158Ala)	NLRP14 (D158A)	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 1281086	NM_176822.4(NLRP14):c.498C>T (p.Phe166=)	NLRP14	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
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 2316450	NM_176822.4(NLRP14):c.524A>G (p.Gln175Arg)	NLRP14 (Q175R)	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 2641573	NM_176822.4(NLRP14):c.535G>A (p.Val179Met)	NLRP14 (V179M)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2261594	NM_176822.4(NLRP14):c.569C>A (p.Thr190Lys)	NLRP14 (T190K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3058966	NM_176822.4(NLRP14):c.573C>T (p.Thr191=)	NLRP14	Single nucleotide variant (synonymous variant)	NLRP14-related disorder	GLikely benign
Select item 103353	NM_176822.4(NLRP14):c.609C>A (p.Gly203=)	NLRP14	Single nucleotide variant (synonymous variant)	not provided	Gnot provided
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 3044395	NM_176822.4(NLRP14):c.725G>A (p.Gly242Asp)	NLRP14 (G242D)	Single nucleotide variant (missense variant)	NLRP14-related disorder	GBenign
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 2470035	NM_176822.4(NLRP14):c.784G>A (p.Asp262Asn)	NLRP14 (D262N)	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 2606174	NM_176822.4(NLRP14):c.901G>C (p.Ala301Pro)	NLRP14 (A301P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 776580	NM_176822.4(NLRP14):c.1014T>C (p.Tyr338=)	NLRP14	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
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 3200591	NM_176822.4(NLRP14):c.1091G>C (p.Ser364Thr)	NLRP14 (S364T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3039322	NM_176822.4(NLRP14):c.1190C>T (p.Thr397Ile)	NLRP14 (T397I)	Single nucleotide variant (missense variant)	NLRP14-related disorder	GLikely benign
Select item 1277751	NM_176822.4(NLRP14):c.1200T>C (p.Phe400=)	NLRP14	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 103341	NM_176822.4(NLRP14):c.1282_1283del (p.Cys428fs)	NLRP14 (C428fs)	Microsatellite (frameshift variant)	not provided	Gnot provided
Select item 789789	NM_176822.4(NLRP14):c.1294G>T (p.Ala432Ser)	NLRP14 (A432S)	Single nucleotide variant (missense variant)	NLRP14-related disorder +1 more	GBenign
Select item 3055292	NM_176822.4(NLRP14):c.1296C>A (p.Ala432=)	NLRP14	Single nucleotide variant (synonymous variant)	NLRP14-related disorder	GBenign
Select item 3033102	NM_176822.4(NLRP14):c.1321G>A (p.Val441Met)	NLRP14 (V441M)	Single nucleotide variant (missense variant)	NLRP14-related disorder	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 3200593	NM_176822.4(NLRP14):c.1358C>T (p.Thr453Ile)	NLRP14 (T453I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2218626	NM_176822.4(NLRP14):c.1364C>T (p.Ser455Phe)	NLRP14 (S455F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3051386	NM_176822.4(NLRP14):c.1382T>C (p.Met461Thr)	NLRP14 (M461T)	Single nucleotide variant (missense variant)	NLRP14-related disorder	GLikely benign
Select item 3044246	NM_176822.4(NLRP14):c.1452G>A (p.Gln484=)	NLRP14	Single nucleotide variant (synonymous variant)	NLRP14-related disorder	GLikely benign
Select item 2258495	NM_176822.4(NLRP14):c.1471T>C (p.Phe491Leu)	NLRP14 (F491L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2223677	NM_176822.4(NLRP14):c.1553C>T (p.Thr518Ile)	NLRP14 (T518I)	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 2289864	NM_176822.4(NLRP14):c.1634A>G (p.Glu545Gly)	NLRP14 (E545G)	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 3200595	NM_176822.4(NLRP14):c.1672T>A (p.Ser558Thr)	NLRP14 (S558T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2225789	NM_176822.4(NLRP14):c.1679T>C (p.Leu560Ser)	NLRP14 (L560S)	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 2220033	NM_176822.4(NLRP14):c.1793C>G (p.Ala598Gly)	NLRP14 (A598G)	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 2373622	NM_176822.4(NLRP14):c.1843T>G (p.Leu615Val)	NLRP14 (L615V)	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 2371493	NM_176822.4(NLRP14):c.1877G>A (p.Arg626Gln)	NLRP14 (R626Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
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 3041197	NM_176822.4(NLRP14):c.1958+6T>C	NLRP14	Single nucleotide variant (intron variant)	NLRP14-related disorder	GLikely benign
Select item 1273321	NM_176822.4(NLRP14):c.1958+74C>A	NLRP14	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1286522	NM_176822.4(NLRP14):c.1959-198G>T	NLRP14	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 103342	NM_176822.4(NLRP14):c.1976C>T (p.Thr659Ile)	NLRP14 (T659I)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 103343	NM_176822.4(NLRP14):c.2027G>C (p.Arg676Thr)	NLRP14 (R676T)	Single nucleotide variant (missense variant)	not provided	Gnot provided
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 103344	NM_176822.4(NLRP14):c.2066C>G (p.Ala689Gly)	NLRP14 (A689G)	Single nucleotide variant (missense variant)	not provided	Gnot provided
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 2397526	NM_176822.4(NLRP14):c.2097C>A (p.His699Gln)	NLRP14 (H699Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1242322	NM_176822.4(NLRP14):c.2123+105C>T	NLRP14	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1281647	NM_176822.4(NLRP14):c.2124-272T>C	NLRP14	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1256859	NM_176822.4(NLRP14):c.2124-244A>T	NLRP14	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1282516	NM_176822.4(NLRP14):c.2124-179G>T	NLRP14	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1245663	NM_176822.4(NLRP14):c.2124-36G>A	NLRP14	Single nucleotide variant (intron variant)	not provided	GBenign
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 3037995	NM_176822.4(NLRP14):c.2249G>A (p.Cys750Tyr)	NLRP14 (C750Y)	Single nucleotide variant (missense variant)	NLRP14-related disorder	GLikely benign
Select item 1225074	NM_176822.4(NLRP14):c.2253G>A (p.Glu751=)	NLRP14	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
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 103345	NM_176822.4(NLRP14):c.2291+112T>A	NLRP14	Single nucleotide variant (intron variant)	not provided	Gnot provided

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