"GeneDx"[submitter] AND "NLRP14"[gene] - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 41

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 151263	GRCh38/hg38 11p15.5-15.4(chr11:61793-10727969)x3	DENND5A, DNHD1 +723 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 1234647	NM_176822.4(NLRP14):c.143A>C (p.Asn48Thr)	NLRP14 (N48T)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1245032	NM_176822.4(NLRP14):c.164G>A (p.Arg55Gln)	NLRP14 (R55Q)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1241370	NM_176822.4(NLRP14):c.275A>G (p.Lys92Arg)	NLRP14 (K92R)	Single nucleotide variant (missense variant)	not provided	GBenign
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 235386	NM_176822.4(NLRP14):c.322A>T (p.Lys108Ter)	NLRP14 (K108*)	Single nucleotide variant (nonsense)	not provided +2 more	GBenign
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 1281086	NM_176822.4(NLRP14):c.498C>T (p.Phe166=)	NLRP14	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1277751	NM_176822.4(NLRP14):c.1200T>C (p.Phe400=)	NLRP14	Single nucleotide variant (synonymous variant)	not provided	GBenign
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 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 1225074	NM_176822.4(NLRP14):c.2253G>A (p.Glu751=)	NLRP14	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1260304	NM_176822.4(NLRP14):c.2292-104A>C	NLRP14	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1268656	NM_176822.4(NLRP14):c.2422G>A (p.Glu808Lys)	NLRP14 (E808K)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1230658	NM_176822.4(NLRP14):c.2462+183A>G	NLRP14	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1259027	NM_176822.4(NLRP14):c.2463-172C>T	NLRP14	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1242438	NM_176822.4(NLRP14):c.2634-254T>G	NLRP14	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1243063	NM_176822.4(NLRP14):c.2804+125_2804+128del	NLRP14	Deletion (intron variant)	not provided	GBenign
Select item 1179639	NM_176822.4(NLRP14):c.2805-305A>G	NLRP14	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1287259	NM_176822.4(NLRP14):c.2976-160A>C	NLRP14	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1270355	NM_176822.4(NLRP14):c.2976-111A>C	NLRP14	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1222316	NM_176822.4(NLRP14):c.3028C>T (p.Leu1010Phe)	NLRP14 (L1010F)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1272433	NM_176822.4(NLRP14):c.3146+85C>A	NLRP14	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1262323	NC_000011.10:g.7071602A>G	NLRP14	Single nucleotide variant (genic downstream transcript variant)	not provided	GBenign
Select item 1246934	NC_000011.10:g.7088691_7088693dup	NLRP14, RBMXL2	Duplication (genic downstream transcript variant)	not provided	GBenign
Select item 1252432	NC_000011.10:g.7088922T>C	NLRP14, RBMXL2	Single nucleotide variant (genic downstream transcript variant)	not provided	GBenign
Select item 1286832	NM_014469.5(RBMXL2):c.-115C>G	NLRP14, RBMXL2	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 1286801	NM_014469.5(RBMXL2):c.-109G>C	NLRP14, RBMXL2	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 1288221	NM_014469.5(RBMXL2):c.12G>A (p.Ala4=)	NLRP14, RBMXL2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1237551	NM_014469.5(RBMXL2):c.197C>T (p.Ala66Val)	NLRP14, RBMXL2 (A66V)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1266867	NM_014469.5(RBMXL2):c.400A>G (p.Thr134Ala)	NLRP14, RBMXL2 (T134A)	Single nucleotide variant (missense variant)	not provided	GBenign

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 41