ClinVar for Gene (Select 106478968) - ClinVar

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Links from Gene

Items: 22

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 3183257	NM_020389.3(TRPC7):c.1850A>G (p.Glu617Gly)	TRPC7, TRPC7-AS2 (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 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 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 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 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 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 149858	GRCh38/hg38 5q23.3-33.2(chr5:129847794-153353546)x3	LOC129995052, LOC129995053 +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: 22