TRPA1[gene] and "single gene"[properties] - ClinVar

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Items: 45

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 722295	NM_007332.3(TRPA1):c.1194+8A>G	TRPA1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2316546	NM_007332.3(TRPA1):c.1190T>G (p.Met397Arg)	TRPA1 (M397R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2327994	NM_007332.3(TRPA1):c.1187T>G (p.Phe396Cys)	TRPA1 (F396C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3183194	NM_007332.3(TRPA1):c.1144A>G (p.Thr382Ala)	TRPA1 (T382A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2381340	NM_007332.3(TRPA1):c.1100A>G (p.Gln367Arg)	TRPA1 (Q367R)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3048313	NM_007332.3(TRPA1):c.1094-3dup	TRPA1	Duplication (intron variant)	TRPA1-related disorder	GLikely benign
Select item 1709462	NM_007332.3(TRPA1):c.1015G>A (p.Asp339Asn)	TRPA1 (D339N)	Single nucleotide variant (missense variant)	Familial episodic pain syndrome with predominantly upper body involvement	GUncertain significance
Select item 2658650	NM_007332.3(TRPA1):c.970C>T (p.Leu324=)	TRPA1	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 1034381	NM_007332.3(TRPA1):c.925C>T (p.His309Tyr)	TRPA1 (H309Y)	Single nucleotide variant (missense variant)	Familial episodic pain syndrome with predominantly upper body involvement +1 more	GUncertain significance
Select item 770748	NM_007332.3(TRPA1):c.895G>A (p.Val299Met)	TRPA1 (V299M)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2219745	NM_007332.3(TRPA1):c.878C>T (p.Ser293Leu)	TRPA1 (S293L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 739693	NM_007332.3(TRPA1):c.837T>C (p.Ala279=)	TRPA1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2292304	NM_007332.3(TRPA1):c.818G>A (p.Cys273Tyr)	TRPA1 (C273Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1335716	NM_007332.3(TRPA1):c.763A>G (p.Ile255Val)	TRPA1 (I255V)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 3049590	NM_007332.3(TRPA1):c.682A>C (p.Arg228=)	TRPA1	Single nucleotide variant (synonymous variant)	TRPA1-related disorder	GBenign
Select item 2620671	NM_007332.3(TRPA1):c.626G>T (p.Gly209Val)	TRPA1 (G209V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2484360	NM_007332.3(TRPA1):c.595T>C (p.Cys199Arg)	TRPA1 (C199R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2544972	NM_007332.3(TRPA1):c.587A>G (p.Lys196Arg)	TRPA1 (K196R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2328065	NM_007332.3(TRPA1):c.563G>C (p.Gly188Ala)	TRPA1 (G188A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1342284	NM_007332.3(TRPA1):c.558A>C (p.Lys186Asn)	TRPA1 (K186N)	Single nucleotide variant (missense variant)	Familial episodic pain syndrome with predominantly upper body involvement	GBenign
Select item 3060717	NM_007332.3(TRPA1):c.535G>A (p.Glu179Lys)	TRPA1 (E179K)	Single nucleotide variant (missense variant)	TRPA1-related disorder	GBenign
Select item 2255801	NM_007332.3(TRPA1):c.512T>C (p.Ile171Thr)	TRPA1 (I171T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2604760	NM_007332.3(TRPA1):c.394A>G (p.Met132Val)	TRPA1 (M132V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3058871	NM_007332.3(TRPA1):c.384C>T (p.Asn128=)	TRPA1	Single nucleotide variant (synonymous variant)	TRPA1-related disorder	GBenign
Select item 1239453	NM_007332.3(TRPA1):c.375T>C (p.Asn125=)	TRPA1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 2212038	NM_007332.3(TRPA1):c.365C>T (p.Ala122Val)	TRPA1 (A122V)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 3045638	NM_007332.3(TRPA1):c.339C>T (p.Ser113=)	TRPA1	Single nucleotide variant (synonymous variant)	TRPA1-related disorder	GLikely benign
Select item 1685187	NM_007332.3(TRPA1):c.326dup (p.Asn109fs)	TRPA1 (N109fs)	Duplication (frameshift variant)	not specified	GUncertain significance
Select item 719421	NM_007332.3(TRPA1):c.327C>A (p.Asn109Lys)	TRPA1 (N109K)	Single nucleotide variant (missense variant)	not provided	GBenign/Likely benign
Select item 3051559	NM_007332.3(TRPA1):c.315T>C (p.Ala105=)	TRPA1	Single nucleotide variant (synonymous variant)	TRPA1-related disorder	GLikely benign
Select item 3183205	NM_007332.3(TRPA1):c.278A>G (p.Glu93Gly)	TRPA1 (E93G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2260924	NM_007332.3(TRPA1):c.248C>A (p.Thr83Asn)	TRPA1 (T83N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3183204	NM_007332.3(TRPA1):c.227T>A (p.Ile76Asn)	TRPA1 (I76N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3183200	NM_007332.3(TRPA1):c.181G>A (p.Asp61Asn)	TRPA1 (D61N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3051724	NM_007332.3(TRPA1):c.180C>T (p.Asp60=)	TRPA1	Single nucleotide variant (synonymous variant)	TRPA1-related disorder	GLikely benign
Select item 493480	NM_007332.3(TRPA1):c.145A>G (p.Asn49Asp)	TRPA1 (N49D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2255471	NM_007332.3(TRPA1):c.125G>A (p.Gly42Glu)	TRPA1 (G42E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2367641	NM_007332.3(TRPA1):c.123A>C (p.Glu41Asp)	TRPA1 (E41D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3183209	NM_007332.3(TRPA1):c.65A>G (p.Tyr22Cys)	TRPA1 (Y22C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2463994	NM_007332.3(TRPA1):c.58G>A (p.Val20Ile)	TRPA1 (V20I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3045291	NM_007332.3(TRPA1):c.-9G>A	TRPA1	Single nucleotide variant (5 prime UTR variant)	TRPA1-related disorder	GLikely benign
Select item 2571319	NC_000008.11:g.72089968A>G	TRPA1	Single nucleotide variant	not provided	GLikely benign
Select item 1808755	GRCh37/hg19 8q13.3(chr8:72857164-73158690)x3	TRPA1	Copy number gain	not provided	GUncertain significance
Select item 688377	GRCh37/hg19 8q13.3(chr8:72936501-72968323)x1	TRPA1	Copy number loss	not provided	GUncertain significance
Select item 685196	GRCh37/hg19 8q13.3(chr8:72928140-72968322)x1	TRPA1	Copy number loss	not provided	GUncertain significance

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Items: 45