TRPC4[gene] - ClinVar

Search results

Items: 94

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146305	GRCh38/hg38 13q11-34(chr13:18445862-114327173)x1	ATP8A2, ATXN8OS +2049 more	Copy number loss	See cases	GPathogenic
Select item 151282	GRCh38/hg38 13q11-34(chr13:18456040-114340285)x3	LOC130009892, LOC130009893 +2050 more	Copy number gain	See cases	GPathogenic
Select item 59851	GRCh38/hg38 13q11-34(chr13:18565048-114327173)x3	LOC130009819, LOC130009820 +2048 more	Copy number gain	See cases	GPathogenic
Select item 59853	GRCh38/hg38 13q11-13.3(chr13:18676442-37656039)x3	LOC130009419, LOC130009420 +567 more	Copy number gain	See cases	GPathogenic
Select item 59855	GRCh38/hg38 13q11-34(chr13:18850545-114327173)x3	ABCC4, ABHD13 +2045 more	Copy number gain	See cases	GPathogenic
Select item 155395	GRCh38/hg38 13q11-34(chr13:18862146-114342258)x3	ABCC4, ABHD13 +2046 more	Copy number gain	See cases	GPathogenic
Select item 59858	GRCh38/hg38 13q12.11-34(chr13:18946182-114304628)x3	LOC130009309, LOC130009310 +2041 more	Copy number gain	See cases	GPathogenic
Select item 154857	GRCh38/hg38 13q12.11-34(chr13:19671934-114340331)x3	LOC130009607, LOC130009608 +2029 more	Copy number gain	See cases	GPathogenic
Select item 148827	GRCh38/hg38 13q12.11-14.11(chr13:19671934-40914767)x3	LOC132090185, LOC132090186 +621 more	Copy number gain	See cases	GPathogenic
Select item 150189	GRCh38/hg38 13q12.11-34(chr13:19833130-114327106)x3	ABCC4, ABHD13 +2025 more	Copy number gain	See cases	GPathogenic
Select item 144647	GRCh38/hg38 13q12.11-34(chr13:19833130-114298614)x3	LOC130009383, LOC130009384 +2022 more	Copy number gain	See cases	GPathogenic
Select item 160881	GRCh38/hg38 13q12.11-34(chr13:19837395-114327173)x3	LOC126861859, LOC126861860 +2025 more	Copy number gain	See cases	GPathogenic
Select item 59863	GRCh38/hg38 13q12.11-34(chr13:19837395-114327173)x3	LOC112163664, LOC112163665 +2025 more	Copy number gain	See cases	GPathogenic
Select item 150360	GRCh38/hg38 13q12.3-13.3(chr13:30313809-39267681)x1	ALG5, ALOX5AP +214 more	Copy number loss	See cases	GPathogenic
Select item 59868	GRCh38/hg38 13q12.3-31.1(chr13:30318913-83610426)x3	LOC130009567, LOC130009568 +1005 more	Copy number gain	See cases	GPathogenic
Select item 57638	GRCh38/hg38 13q12.3-21.33(chr13:30697728-69471973)x1	LOC130009620, LOC130009621 +781 more	Copy number loss	See cases	GPathogenic
Select item 149761	GRCh38/hg38 13q12.3-14.2(chr13:31018160-48491204)x1	AKAP11, ALG5 +485 more	Copy number loss	See cases	GPathogenic
Select item 161028	GRCh38/hg38 13q12.3-31.3(chr13:31363472-90575292)x3	ACOD1, AKAP11 +992 more	Copy number gain	See cases	GPathogenic
Select item 33174	GRCh38/hg38 13q12.3-31.3(chr13:31363472-90575292)x3	ACOD1, AKAP11 +992 more	Copy number gain	See cases	GPathogenic
Select item 146536	GRCh38/hg38 13q12.3-21.32(chr13:31553608-65470367)x3	LOC130009600, LOC130009601 +735 more	Copy number gain	See cases	GPathogenic
Select item 149289	GRCh38/hg38 13q13.1-31.1(chr13:32531486-86757044)x3	LOC130009611, LOC130009612 +938 more	Copy number gain	See cases	GPathogenic
Select item 59888	GRCh38/hg38 13q13.2-34(chr13:33528097-114327173)x3	LOC130009687, LOC130009688 +1557 more	Copy number gain	See cases	GPathogenic
Select item 57640	GRCh38/hg38 13q13.3-14.11(chr13:35232476-41375955)x1	ALG5, CCDC169 +146 more	Copy number loss	See cases	GPathogenic
Select item 144214	GRCh38/hg38 13q13.3-21.31(chr13:36777318-62955876)x1	LINC00400, LINC02333 +604 more	Copy number loss	See cases	GPathogenic
Select item 154055	GRCh38/hg38 13q13.3(chr13:37156369-39010872)x3	FREM2, FREM2-AS1 +24 more	Copy number gain	See cases	GUncertain significance
Select item 57641	GRCh38/hg38 13q13.3(chr13:37210304-39034199)x1	FREM2, FREM2-AS1 +25 more	Copy number loss	See cases	GPathogenic
Select item 154801	GRCh38/hg38 13q13.3(chr13:37624898-38458496)x3	LINC00571, LOC124855086 +6 more	Copy number gain	See cases	GPathogenic
Select item 778695	NM_016179.4(TRPC4):c.2928A>G (p.Arg976=)	TRPC4	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2508785	NM_016179.4(TRPC4):c.2866A>G (p.Ser956Gly)	TRPC4 (S815G +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2211840	NM_016179.4(TRPC4):c.2737G>A (p.Glu913Lys)	TRPC4 (E493K +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2388399	NM_016179.4(TRPC4):c.2720T>A (p.Val907Glu)	TRPC4 (V487E +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3329172	NM_016179.4(TRPC4):c.2684G>A (p.Gly895Asp)	TRPC4 (G900D +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3329174	NM_016179.4(TRPC4):c.2668G>C (p.Gly890Arg)	TRPC4 (G895R +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3183233	NM_016179.4(TRPC4):c.2668G>A (p.Gly890Arg)	TRPC4 (G741R +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2522442	NM_016179.4(TRPC4):c.2636C>A (p.Pro879Gln)	TRPC4 (P738Q +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2204205	NM_016179.4(TRPC4):c.2626G>C (p.Ala876Pro)	TRPC4 (A792P +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2210482	NM_016179.4(TRPC4):c.2618G>A (p.Arg873His)	TRPC4 (R878H +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2327883	NM_016179.4(TRPC4):c.2573A>G (p.Glu858Gly)	TRPC4 (E858G +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3329173	NM_016179.4(TRPC4):c.2572G>C (p.Glu858Gln)	TRPC4 (E438Q +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3183232	NM_016179.4(TRPC4):c.2495A>G (p.Lys832Arg)	TRPC4 (K832R +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2254998	NM_016179.4(TRPC4):c.2422G>A (p.Ala808Thr)	TRPC4 (A388T +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3183231	NM_016179.4(TRPC4):c.2303C>T (p.Ser768Leu)	TRPC4 (S773L +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3183230	NM_016179.4(TRPC4):c.2279C>T (p.Ser760Phe)	TRPC4 (S760F +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2295987	NM_016179.4(TRPC4):c.2177A>G (p.Lys726Arg)	TRPC4 (K553R +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2364303	NM_016179.4(TRPC4):c.2152G>A (p.Val718Ile)	TRPC4 (V298I +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2403746	NM_016179.4(TRPC4):c.2089G>A (p.Ala697Thr)	TRPC4 (A277T +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2550360	NM_016179.4(TRPC4):c.2051G>T (p.Arg684Ile)	TRPC4 (R264I +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2486575	NM_016179.4(TRPC4):c.1898T>C (p.Ile633Thr)	TRPC4 (I213T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3329178	NM_016179.4(TRPC4):c.1676A>C (p.Asn559Thr)	TRPC4 (N139T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3183228	NM_016179.4(TRPC4):c.1643C>T (p.Thr548Ile)	TRPC4 (T548I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3329176	NM_016179.4(TRPC4):c.1284C>A (p.Asp428Glu)	TRPC4 (D255E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3183226	NM_016179.4(TRPC4):c.1186G>A (p.Gly396Ser)	TRPC4 (G223S +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 787106	NM_016179.4(TRPC4):c.999T>C (p.Cys333=)	TRPC4	Single nucleotide variant (synonymous variant +2 more)	not provided	GBenign
Select item 3329175	NM_016179.4(TRPC4):c.980C>T (p.Ala327Val)	TRPC4 (A154V +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2322196	NM_016179.4(TRPC4):c.938G>A (p.Arg313His)	TRPC4 (R313H +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2535056	NM_016179.4(TRPC4):c.925C>G (p.Leu309Val)	TRPC4 (L309V +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3183235	NM_016179.4(TRPC4):c.877A>G (p.Ile293Val)	TRPC4 (I293V)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2611002	NM_016179.4(TRPC4):c.830T>C (p.Leu277Pro)	TRPC4 (L277P)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2471963	NM_016179.4(TRPC4):c.799A>C (p.Ile267Leu)	TRPC4 (I267L)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2363376	NM_016179.4(TRPC4):c.775A>T (p.Thr259Ser)	TRPC4 (T259S)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3183234	NM_016179.4(TRPC4):c.737G>A (p.Arg246Gln)	TRPC4 (R246Q)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 161611	NM_016179.4(TRPC4):c.523C>T (p.Arg175Cys)	TRPC4 (R175C)	Single nucleotide variant (missense variant +2 more)	Malignant tumor of prostate	GUncertain significance
Select item 2571615	NM_016179.4(TRPC4):c.379-2A>T	TRPC4	Single nucleotide variant (splice acceptor variant +1 more)	Autism, susceptiblity to	GPathogenic
Select item 2334437	NM_016179.4(TRPC4):c.251A>T (p.Glu84Val)	TRPC4 (E84V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3183227	NM_016179.4(TRPC4):c.118G>A (p.Val40Met)	TRPC4 (V40M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2605312	NM_016179.4(TRPC4):c.41A>G (p.Tyr14Cys)	TRPC4 (Y14C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2540273	NM_016179.4(TRPC4):c.11T>C (p.Phe4Ser)	TRPC4 (F4S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 152095	GRCh38/hg38 13q13.3-21.32(chr13:37864226-67963788)x1	LOC130009665, LOC130009659 +612 more	Copy number loss	See cases	GPathogenic
Select item 3244229	NC_000013.10:g.(?_36878502)_(40325230_?)dup	ALG5, CCNA1 +16 more	Duplication	not provided	GUncertain significance
Select item 3063311	GRCh37/hg19 13q13.2-21.1(chr13:35015723-59553519)x3	AKAP11, ALG11 +117 more	Copy number gain	not specified	GPathogenic
Select item 3063306	GRCh37/hg19 13q13.2-14.11(chr13:35060982-44540846)x1	AKAP11, ALG5 +42 more	Copy number loss	not specified	GUncertain significance
Select item 3024581	GRCh37/hg19 13q13.2-21.2(chr13:34884647-61309742)x1	ITM2B, KBTBD6 +119 more	Copy number loss	not provided	GPathogenic
Select item 1809134	GRCh37/hg19 13q13.3-14.11(chr13:35501428-40901176)x1	ALG5, CCDC169 +22 more	Copy number loss	not provided	GPathogenic
Select item 1808770	GRCh37/hg19 13q13.3-14.11(chr13:36148057-41670428)x3	ALG5, CCDC169 +26 more	Copy number gain	not provided	GUncertain significance
Select item 1710518	GRCh37/hg19 13q11-34(chr13:19253848-115108937)x3	B3GLCT, HS6ST3 +332 more	Copy number gain	not provided	GPathogenic
Select item 1703573	GRCh37/hg19 13p13-q34(chr13:1-115169878)	ABCC4, ABHD13 +332 more	Copy number gain	Complete trisomy 13 syndrome	GPathogenic
Select item 1527766	GRCh37/hg19 13q13.3-31.1(chr13:36376204-80681753)	SPART, SPRYD7 +147 more	Copy number loss	not specified	GPathogenic
Select item 1527765	GRCh37/hg19 13q13.3(chr13:36064105-39230796)x1	ALG5, CCDC169 +15 more	Copy number loss	not specified	GPathogenic
Select item 1527763	GRCh37/hg19 13q13.3(chr13:35531798-39607778)	ALG5, CCDC169 +19 more	Copy number loss	not specified	GLikely pathogenic
Select item 1527762	GRCh37/hg19 13q13.1-21.31(chr13:32946120-62698217)	AKAP11, ALG11 +127 more	Copy number loss	not specified	GPathogenic
Select item 1527750	GRCh37/hg19 13q11-34(chr13:19436286-115107733)	ABCC4, ABHD13 +332 more	Copy number gain	not specified	GPathogenic
Select item 1527749	GRCh37/hg19 13q11-34(chr13:19436286-114981726)	VPS36, VWA8 +329 more	Copy number gain	not specified	GPathogenic
Select item 1341081	GRCh37/hg19 13q11-34(chr13:19436286-115107733)x3	ABCC4, ABHD13 +332 more	Copy number gain	not provided	GPathogenic
Select item 1340435	GRCh37/hg19 13q13.3(chr13:37464566-38493263)x3	ALG5, CSNK1A1L +5 more	Copy number gain	not provided	GUncertain significance
Select item 1321996	GRCh37/hg19 13p13-q34(chr13:1-115169878)x3	DACH1, IRS2 +332 more	Copy number gain	See cases	GPathogenic
Select item 1048617	GRCh37/hg19 13q11-34(chr13:19053605-115108528)x3	CENPJ, CHAMP1 +332 more	Copy number gain	See cases	GPathogenic
Select item 815580	GRCh37/hg19 13q13.3(chr13:37730506-38751741)x3	POSTN, TRPC4	Copy number gain	not provided	GLikely benign
Select item 688438	GRCh37/hg19 13q11-34(chr13:19436286-115107733)x3	ABCC4, ABHD13 +332 more	Copy number gain	not provided	GPathogenic
Select item 564083	GRCh37/hg19 13q11-22.1(chr13:19436286-74045459)x3	NUDT15, NUFIP1 +211 more	Copy number gain	not provided	GPathogenic
Select item 524173	t(5;13)(q22;q12.3)dn	TRPC4	Translocation	not specified	GUncertain significance
Select item 441765	GRCh37/hg19 13q11-34(chr13:19436287-115107733)	FGF9, FLT1 +332 more	Copy number gain	See cases	GPathogenic
Select item 441764	GRCh37/hg19 13q11-34(chr13:19436287-115107733)x3	ABCC4, ABHD13 +332 more	Copy number gain	See cases	GPathogenic
Select item 394462	GRCh37/hg19 13q12.11-34(chr13:19571503-115092510)	CRYL1, CSNK1A1L +332 more	Copy number gain	See cases	GPathogenic
Select item 253405	GRCh37/hg19 13q12.11-34(chr13:19571503-115092569)x3	GTF2F2, LINC00567 +332 more	Copy number gain	See cases	GPathogenic

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: 94