"PreventionGenetics, part of Exact Sciences"[submitter] AND "NLRP14"[g - ClinVar

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Items: 28

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 3056667	NM_176822.4(NLRP14):c.152A>G (p.Lys51Arg)	NLRP14 (K51R)	Single nucleotide variant (missense variant)	NLRP14-related disorder	GBenign
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 1241370	NM_176822.4(NLRP14):c.275A>G (p.Lys92Arg)	NLRP14 (K92R)	Single nucleotide variant (missense variant)	not provided +1 more	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 1281086	NM_176822.4(NLRP14):c.498C>T (p.Phe166=)	NLRP14	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
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 3044395	NM_176822.4(NLRP14):c.725G>A (p.Gly242Asp)	NLRP14 (G242D)	Single nucleotide variant (missense variant)	NLRP14-related disorder	GBenign
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 3039322	NM_176822.4(NLRP14):c.1190C>T (p.Thr397Ile)	NLRP14 (T397I)	Single nucleotide variant (missense variant)	NLRP14-related disorder	GLikely benign
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 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 3041197	NM_176822.4(NLRP14):c.1958+6T>C	NLRP14	Single nucleotide variant (intron variant)	NLRP14-related disorder	GLikely benign
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 1268656	NM_176822.4(NLRP14):c.2422G>A (p.Glu808Lys)	NLRP14 (E808K)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 3060875	NM_176822.4(NLRP14):c.2851T>A (p.Ser951Thr)	NLRP14 (S951T)	Single nucleotide variant (missense variant)	NLRP14-related disorder	GBenign
Select item 3059287	NM_176822.4(NLRP14):c.2861T>C (p.Leu954Ser)	NLRP14 (L954S)	Single nucleotide variant (missense variant)	NLRP14-related disorder	GBenign
Select item 1222316	NM_176822.4(NLRP14):c.3028C>T (p.Leu1010Phe)	NLRP14 (L1010F)	Single nucleotide variant (missense variant)	NLRP14-related disorder +1 more	GBenign
Select item 3041280	NM_176822.4(NLRP14):c.3057G>A (p.Met1019Ile)	NLRP14 (M1019I)	Single nucleotide variant (missense variant)	NLRP14-related disorder	GBenign

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Items: 28