"GeneDx"[submitter] AND "TRPC6"[gene] - ClinVar

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Items: 82

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58918	GRCh38/hg38 11q14.1-22.3(chr11:78232836-106779420)x1	KBTBD3, KDM4D +528 more	Copy number loss	See cases	GPathogenic
Select item 58919	GRCh38/hg38 11q14.1-22.2(chr11:85242847-102920097)x1	LOC101929174, LOC102723838 +378 more	Copy number loss	See cases	GPathogenic
Select item 59772	GRCh38/hg38 11q22.1-25(chr11:100348599-135040246)x3	AASDHPPT, ABCG4 +1199 more	Copy number gain	See cases	GPathogenic
Select item 58185	GRCh38/hg38 11q22.1(chr11:101139357-101615307)x3	LOC129390347, MIR3920 +2 more	Copy number gain	See cases	GUncertain significance
Select item 259462	NM_004621.6(TRPC6):c.2712G>A (p.Gln904=)	TRPC6	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 3252520	NM_004621.6(TRPC6):c.2687A>G (p.Tyr896Cys)	TRPC6 (Y896C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 259461	NM_004621.6(TRPC6):c.2645-22_2645-20del	TRPC6	Microsatellite (intron variant)	not provided +2 more	GBenign
Select item 1198182	NM_004621.6(TRPC6):c.2645-69G>A	TRPC6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1283659	NM_004621.6(TRPC6):c.2645-146C>T	TRPC6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1252222	NM_004621.6(TRPC6):c.2568+186del	TRPC6	Deletion (intron variant)	not provided	GBenign
Select item 1224742	NM_004621.6(TRPC6):c.2568+171T>A	TRPC6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 259460	NM_004621.6(TRPC6):c.2529C>T (p.Phe843=)	TRPC6	Single nucleotide variant (synonymous variant)	Focal segmental glomerulosclerosis 2 +2 more	GBenign
Select item 1234385	NM_004621.6(TRPC6):c.2485-138C>T	TRPC6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1279853	NM_004621.6(TRPC6):c.2485-287C>T	TRPC6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1287948	NM_004621.6(TRPC6):c.2484+151T>C	TRPC6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1311304	NM_004621.6(TRPC6):c.2391A>C (p.Glu797Asp)	TRPC6 (E797D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3364455	NM_004621.6(TRPC6):c.2351T>C (p.Ile784Thr)	TRPC6 (I784T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 259459	NM_004621.6(TRPC6):c.2142G>A (p.Thr714=)	TRPC6	Single nucleotide variant (synonymous variant)	Focal segmental glomerulosclerosis 2 +2 more	GBenign/Likely benign
Select item 259458	NM_004621.6(TRPC6):c.2115C>T (p.Tyr705=)	TRPC6	Single nucleotide variant (synonymous variant)	Focal segmental glomerulosclerosis +3 more	GBenign
Select item 3253474	NM_004621.6(TRPC6):c.2089C>T (p.His697Tyr)	TRPC6 (H697Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 301902	NM_004621.6(TRPC6):c.2088C>T (p.Asn696=)	TRPC6	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign/Likely benign
Select item 1304571	NM_004621.6(TRPC6):c.2074G>A (p.Val692Ile)	TRPC6 (V692I)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1190677	NM_004621.6(TRPC6):c.2010-107T>A	TRPC6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1253314	NM_004621.6(TRPC6):c.2010-299G>A	TRPC6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1234118	NM_004621.6(TRPC6):c.2009+63C>T	TRPC6	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 1804246	NM_004621.6(TRPC6):c.1888A>G (p.Thr630Ala)	TRPC6 (T630A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 259457	NM_004621.6(TRPC6):c.1818T>C (p.Ser606=)	TRPC6	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 1265525	NM_004621.6(TRPC6):c.1745-195T>C	TRPC6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1208856	NM_004621.6(TRPC6):c.1744+140T>G	TRPC6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1212329	NM_004621.6(TRPC6):c.1744+116A>G	TRPC6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 259455	NM_004621.6(TRPC6):c.1683T>C (p.Asn561=)	TRPC6	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 1275665	NM_004621.6(TRPC6):c.1510+199G>A	TRPC6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1244804	NM_004621.6(TRPC6):c.1510+188G>A	TRPC6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1213551	NM_004621.6(TRPC6):c.1510+149C>T	TRPC6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1683816	NM_004621.6(TRPC6):c.1510+109G>A	TRPC6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1683815	NM_004621.6(TRPC6):c.1510+102T>C	TRPC6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1253302	NM_004621.6(TRPC6):c.1294-136C>T	TRPC6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1683811	NM_004621.6(TRPC6):c.1294-179C>T	TRPC6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1288984	NM_004621.6(TRPC6):c.1293+237A>G	TRPC6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1205795	NM_004621.6(TRPC6):c.1293+212dup	TRPC6	Duplication (intron variant)	not provided	GLikely benign
Select item 1683858	NM_004621.6(TRPC6):c.1293+93C>T	TRPC6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 725298	NM_004621.6(TRPC6):c.1260G>A (p.Leu420=)	TRPC6	Single nucleotide variant (synonymous variant)	not provided	GConflicting classifications of pathogenicity
Select item 259454	NM_004621.6(TRPC6):c.1211C>T (p.Ala404Val)	TRPC6 (A404V)	Single nucleotide variant (missense variant)	Focal segmental glomerulosclerosis +3 more	GBenign
Select item 1266106	NM_004621.6(TRPC6):c.1129-100G>A	TRPC6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1262712	NM_004621.6(TRPC6):c.1129-285_1129-281del	TRPC6	Deletion (intron variant)	not provided	GBenign
Select item 1181751	NM_004621.6(TRPC6):c.1129-299G>A	TRPC6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1231694	NM_004621.6(TRPC6):c.1128+224C>A	TRPC6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1686748	NM_004621.6(TRPC6):c.1128+165T>C	TRPC6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1686750	NM_004621.6(TRPC6):c.1128+135C>T	TRPC6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1686752	NM_004621.6(TRPC6):c.1128+127T>C	TRPC6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1257481	NM_004621.6(TRPC6):c.1128+122del	TRPC6	Deletion (intron variant)	not provided	GBenign
Select item 1686751	NM_004621.6(TRPC6):c.1128+84A>G	TRPC6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2575851	NM_004621.6(TRPC6):c.1094G>A (p.Arg365His)	TRPC6 (R365H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1315342	NM_004621.6(TRPC6):c.949G>T (p.Asp317Tyr)	TRPC6 (D317Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1205258	NM_004621.6(TRPC6):c.946-228C>T	TRPC6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1245678	NM_004621.6(TRPC6):c.946-248C>T	TRPC6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1194760	NM_004621.6(TRPC6):c.945+256_945+258del	TRPC6	Microsatellite (intron variant)	not provided	GLikely benign
Select item 1231268	NM_004621.6(TRPC6):c.945+129C>T	TRPC6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1600779	NM_004621.6(TRPC6):c.667A>G (p.Ile223Val)	TRPC6 (I223V)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1310841	NM_004621.6(TRPC6):c.618T>G (p.Phe206Leu)	TRPC6 (F206L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1314259	NM_004621.6(TRPC6):c.535G>A (p.Ala179Thr)	TRPC6 (A179T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3372282	NM_004621.6(TRPC6):c.424G>A (p.Ala142Thr)	TRPC6 (A142T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2500623	NM_004621.6(TRPC6):c.325G>A (p.Gly109Ser)	TRPC6 (G109S)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 259456	NM_004621.6(TRPC6):c.171-20A>G	TRPC6	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 1261382	NM_004621.6(TRPC6):c.171-86G>C	TRPC6	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1242431	NM_004621.6(TRPC6):c.171-157del	TRPC6	Deletion (intron variant)	not provided	GBenign
Select item 1246222	NM_004621.6(TRPC6):c.171-221A>C	TRPC6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1216142	NM_004621.6(TRPC6):c.170+256C>T	TRPC6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1231692	NM_004621.6(TRPC6):c.170+70G>A	TRPC6	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 749308	NM_004621.6(TRPC6):c.75C>T (p.Arg25=)	TRPC6	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1804442	NM_004621.6(TRPC6):c.68C>T (p.Ala23Val)	TRPC6 (A23V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 259463	NM_004621.6(TRPC6):c.43C>T (p.Pro15Ser)	TRPC6 (P15S)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign
Select item 1308243	NM_004621.6(TRPC6):c.23G>A (p.Gly8Glu)	TRPC6 (G8E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 301914	NM_004621.6(TRPC6):c.-10C>A	TRPC6	Single nucleotide variant (5 prime UTR variant)	Kidney disorder +2 more	GBenign/Likely benign
Select item 301918	NM_004621.6(TRPC6):c.-218C>T	TRPC6	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GBenign
Select item 301920	NM_004621.6(TRPC6):c.-254C>G	TRPC6	Single nucleotide variant (5 prime UTR variant)	not provided +2 more	GBenign
Select item 301926	NM_004621.6(TRPC6):c.-361A>T	TRPC6	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GBenign
Select item 1202575	NC_000011.10:g.101584242G>A	TRPC6	Single nucleotide variant	not provided	GLikely benign
Select item 253779	GRCh37/hg19 11q22.1(chr11:101450649-102064511)x3	YAP1, CEP126 +3 more	Copy number gain	See cases	GUncertain significance
Select item 3361737	NM_004621.6(TRPC6):c.1567_1570del (p.Phe523fs)	TRPC6 (F523fs)	Microsatellite (frameshift variant)	not provided	GUncertain significance
Select item 3361710	NM_004621.6(TRPC6):c.344G>A (p.Arg115Gln)	TRPC6 (R115Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3359416	NM_004621.6(TRPC6):c.1850A>G (p.Asn617Ser)	TRPC6 (N617S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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Items: 82