ClinVar for Gene (Select 7223) - ClinVar

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Links from Gene

Items: 94

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 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 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 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 3244229	NC_000013.10:g.(?_36878502)_(40325230_?)dup	ALG5, CCNA1 +16 more	Duplication	not provided	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 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 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 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 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 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 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 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 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 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 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 2571615	NM_016179.4(TRPC4):c.379-2A>T	TRPC4	Single nucleotide variant (splice acceptor variant +1 more)	Autism, susceptiblity to	GPathogenic
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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 787106	NM_016179.4(TRPC4):c.999T>C (p.Cys333=)	TRPC4	Single nucleotide variant (synonymous variant +2 more)	not provided	GBenign
Select item 778695	NM_016179.4(TRPC4):c.2928A>G (p.Arg976=)	TRPC4	Single nucleotide variant (synonymous variant)	not provided	GBenign
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
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 161028	GRCh38/hg38 13q12.3-31.3(chr13:31363472-90575292)x3	ACOD1, AKAP11 +992 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 155395	GRCh38/hg38 13q11-34(chr13:18862146-114342258)x3	ABCC4, ABHD13 +2046 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 154801	GRCh38/hg38 13q13.3(chr13:37624898-38458496)x3	LINC00571, LOC124855086 +6 more	Copy number gain	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 152095	GRCh38/hg38 13q13.3-21.32(chr13:37864226-67963788)x1	LOC130009665, LOC130009659 +612 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 150360	GRCh38/hg38 13q12.3-13.3(chr13:30313809-39267681)x1	ALG5, ALOX5AP +214 more	Copy number loss	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 149761	GRCh38/hg38 13q12.3-14.2(chr13:31018160-48491204)x1	AKAP11, ALG5 +485 more	Copy number loss	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 148827	GRCh38/hg38 13q12.11-14.11(chr13:19671934-40914767)x3	LOC132090185, LOC132090186 +621 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 146305	GRCh38/hg38 13q11-34(chr13:18445862-114327173)x1	ATP8A2, ATXN8OS +2049 more	Copy number loss	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 144214	GRCh38/hg38 13q13.3-21.31(chr13:36777318-62955876)x1	LINC00400, LINC02333 +604 more	Copy number loss	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 59868	GRCh38/hg38 13q12.3-31.1(chr13:30318913-83610426)x3	LOC130009567, LOC130009568 +1005 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 59858	GRCh38/hg38 13q12.11-34(chr13:18946182-114304628)x3	LOC130009309, LOC130009310 +2041 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 59853	GRCh38/hg38 13q11-13.3(chr13:18676442-37656039)x3	LOC130009419, LOC130009420 +567 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 57641	GRCh38/hg38 13q13.3(chr13:37210304-39034199)x1	FREM2, FREM2-AS1 +25 more	Copy number loss	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 57638	GRCh38/hg38 13q12.3-21.33(chr13:30697728-69471973)x1	LOC130009620, LOC130009621 +781 more	Copy number loss	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

ClinVar

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Links from Gene

Items: 94