ClinVar for Gene (Select 57113) - ClinVar

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Links from Gene

Items: 54

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3329197	NM_020389.3(TRPC7):c.472G>A (p.Gly158Ser)	TRPC7 (G158S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3329195	NM_020389.3(TRPC7):c.299A>T (p.Lys100Met)	TRPC7 (K100M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3329194	NM_020389.3(TRPC7):c.1645G>T (p.Val549Leu)	TRPC7, TRPC7-AS2 (V494L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3329193	NM_020389.3(TRPC7):c.524A>G (p.Gln175Arg)	TRPC7 (Q175R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3329192	NM_020389.3(TRPC7):c.1699C>G (p.Pro567Ala)	TRPC7, TRPC7-AS2 (P451A +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3329191	NM_020389.3(TRPC7):c.1936G>A (p.Glu646Lys)	TRPC7, TRPC7-AS2 (E530K +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3329190	NM_020389.3(TRPC7):c.2279C>T (p.Ala760Val)	TRPC7 (A705V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3329189	NM_020389.3(TRPC7):c.401G>A (p.Gly134Asp)	TRPC7 (G134D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3183260	NM_020389.3(TRPC7):c.952G>A (p.Glu318Lys)	TRPC7, TRPC7-AS2 (E318K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3183259	NM_020389.3(TRPC7):c.829G>C (p.Val277Leu)	TRPC7, TRPC7-AS2 (V277L)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 3183258	NM_020389.3(TRPC7):c.241G>T (p.Ala81Ser)	TRPC7 (A81S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3183257	NM_020389.3(TRPC7):c.1850A>G (p.Glu617Gly)	TRPC7-AS2, TRPC7 (E617G +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3183256	NM_020389.3(TRPC7):c.1451C>T (p.Ala484Val)	TRPC7, TRPC7-AS2 (A368V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3183255	NM_020389.3(TRPC7):c.1308C>A (p.Phe436Leu)	TRPC7, TRPC7-AS2 (F320L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3183254	NM_020389.3(TRPC7):c.1014A>T (p.Glu338Asp)	TRPC7, TRPC7-AS2 (E277D +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2655712	NM_020389.3(TRPC7):c.1971C>T (p.Asn657=)	TRPC7, TRPC7-AS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2624376	NM_020389.3(TRPC7):c.1814G>C (p.Arg605Pro)	TRPC7, TRPC7-AS2 (R544P +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2615341	NM_020389.3(TRPC7):c.1226G>A (p.Arg409Gln)	TRPC7, TRPC7-AS2 (R409Q +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2612995	NM_020389.3(TRPC7):c.213C>A (p.Phe71Leu)	TRPC7 (F71L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2608237	NM_020389.3(TRPC7):c.33G>T (p.Gln11His)	TRPC7 (Q11H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2593401	NM_020389.3(TRPC7):c.1507G>A (p.Val503Met)	TRPC7, TRPC7-AS2 (V387M +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2590539	NM_020389.3(TRPC7):c.1814G>A (p.Arg605Gln)	TRPC7, TRPC7-AS2 (R605Q +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2558334	NM_020389.3(TRPC7):c.706G>A (p.Glu236Lys)	TRPC7 (E236K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2545693	NM_020389.3(TRPC7):c.615G>C (p.Glu205Asp)	TRPC7 (E205D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2518776	NM_020389.3(TRPC7):c.1633G>A (p.Ala545Thr)	TRPC7, TRPC7-AS2 (A484T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2517682	NM_020389.3(TRPC7):c.37C>T (p.Arg13Trp)	TRPC7 (R13W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2388554	NM_020389.3(TRPC7):c.281C>T (p.Thr94Met)	TRPC7 (T94M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2344121	NM_020389.3(TRPC7):c.2357G>A (p.Arg786Gln)	TRPC7, TRPC7-AS1 (R670Q +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2342410	NM_020389.3(TRPC7):c.1921G>A (p.Asp641Asn)	TRPC7, TRPC7-AS2 (D586N +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2308713	NM_020389.3(TRPC7):c.2194C>T (p.Leu732Phe)	TRPC7 (L616F +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2305529	NM_020389.3(TRPC7):c.1465C>T (p.Arg489Cys)	TRPC7, TRPC7-AS2 (R373C +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2302322	NM_020389.3(TRPC7):c.1819G>A (p.Ala607Thr)	TRPC7, TRPC7-AS2 (A552T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2257025	NM_020389.3(TRPC7):c.2564G>A (p.Arg855Lys)	TRPC7 (R855K +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2224247	NM_020389.3(TRPC7):c.326C>T (p.Ala109Val)	TRPC7 (A109V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2214223	NM_020389.3(TRPC7):c.1381G>A (p.Glu461Lys)	TRPC7, TRPC7-AS2 (E461K +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1527200	GRCh37/hg19 5q31.1(chr5:135396615-135680453)	SMAD5, TGFBI +2 more	Copy number gain	not specified	GUncertain significance
Select item 1527198	GRCh37/hg19 5q31.1-31.2(chr5:132031902-137623639)	AFF4, BRD8 +53 more	Copy number loss	not specified	GPathogenic
Select item 1340878	GRCh37/hg19 5q31.1(chr5:135699216-136197957)x3	TRPC7	Copy number gain	not provided	GUncertain significance
Select item 814747	GRCh37/hg19 5q31.1(chr5:135499647-135588586)x1	TRPC7, SMAD5	Copy number loss	not provided	GUncertain significance
Select item 635930	Single allele	C5orf24, C5orf34 +600 more	Deletion	Neurodevelopmental disorder	GUncertain significance
Select item 624508	GRCh37/hg19 5q23.2-31.2(chr5:126377719-136270989)x1	ACSL6, ADAMTS19 +68 more	Copy number loss	not provided	GLikely pathogenic
Select item 563109	GRCh37/hg19 5q31.1-31.2(chr5:135699216-136201487)x3	TRPC7	Copy number gain	not provided	GUncertain significance
Select item 457359	NC_000005.9:g.(?_86400000)_(154000000_?)del	CCDC69, CCNH +385 more	Deletion	Familial adenomatous polyposis 1 +1 more	GPathogenic
Select item 442431	GRCh37/hg19 5p15.1-q35.2(chr5:17628741-176575720)x1	DHFR, DHX29 +738 more	Copy number loss	See cases	GPathogenic
Select item 441920	GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)	ABLIM3, ACOT12 +870 more	Copy number gain	See cases	GPathogenic
Select item 441919	GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)x3	ABLIM3, ACOT12 +870 more	Copy number gain	See cases	GPathogenic
Select item 425542	GRCh37/hg19 5q15-35.3(chr5:94844077-178830410)x3	ARL10, ARL14EPL +511 more	Copy number gain	not provided	GLikely benign
Select item 394550	GRCh37/hg19 5q21.3-35.3(chr5:106716357-180687338)x3	HRH2, HSD17B4 +520 more	Copy number gain	See cases	GPathogenic
Select item 149858	GRCh38/hg38 5q23.3-33.2(chr5:129847794-153353546)x3	LOC129994992, LOC129994993 +1157 more	Copy number gain	See cases	GPathogenic
Select item 144268	GRCh38/hg38 5q31.1-31.3(chr5:135297294-140106003)x3	BRD8, CDC23 +236 more	Copy number gain	See cases	GPathogenic
Select item 59672	GRCh38/hg38 5q21.3-33.2(chr5:106619588-156124387)x1	ABLIM3, ACSL6 +1672 more	Copy number loss	See cases	GPathogenic
Select item 58363	GRCh38/hg38 5q31.1-31.2(chr5:135894042-137619032)x1	CTB-1I21.1, IL9 +32 more	Copy number loss	See cases	GPathogenic
Select item 58361	GRCh38/hg38 5q31.1-31.2(chr5:133401565-138437038)x1	BRD8, C5orf15 +230 more	Copy number loss	See cases	GPathogenic
Select item 57483	GRCh38/hg38 5q23.3-33.2(chr5:130860928-155321811)x3	ABLIM3, ACSL6 +1218 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 54