7225[geneid] - ClinVar - NCBI

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	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 148976	GRCh38/hg38 11q14.3-22.3(chr11:91086659-109595582)x1	LOC130006596, LOC130006597 +387 more	Copy number loss	See cases	GPathogenic
Select item 147379	GRCh38/hg38 11q22.1-22.3(chr11:98357901-106059146)x1	LOC132089949, LOC132089950 +149 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 880181	NM_004621.6(TRPC6):c.*1386C>G	TRPC6	Single nucleotide variant (3 prime UTR variant)	Focal segmental glomerulosclerosis 2	GUncertain significance
Select item 301875	NM_004621.6(TRPC6):c.*1380G>A	TRPC6	Single nucleotide variant (3 prime UTR variant)	Focal segmental glomerulosclerosis 2	GUncertain significance
Select item 301876	NM_004621.6(TRPC6):c.*1349T>C	TRPC6	Single nucleotide variant (3 prime UTR variant)	Focal segmental glomerulosclerosis 2	GUncertain significance
Select item 301877	NM_004621.6(TRPC6):c.*1176T>C	TRPC6	Single nucleotide variant (3 prime UTR variant)	Focal segmental glomerulosclerosis 2	GUncertain significance
Select item 877401	NM_004621.6(TRPC6):c.*1147A>G	TRPC6	Single nucleotide variant (3 prime UTR variant)	Focal segmental glomerulosclerosis 2	GUncertain significance
Select item 301878	NM_004621.6(TRPC6):c.*1089C>T	TRPC6	Single nucleotide variant (3 prime UTR variant)	Focal segmental glomerulosclerosis 2	GBenign
Select item 301879	NM_004621.6(TRPC6):c.*1038T>G	TRPC6	Single nucleotide variant (3 prime UTR variant)	Focal segmental glomerulosclerosis 2	GUncertain significance
Select item 877402	NM_004621.6(TRPC6):c.*1032A>G	TRPC6	Single nucleotide variant (3 prime UTR variant)	Focal segmental glomerulosclerosis 2	GUncertain significance
Select item 301880	NM_004621.6(TRPC6):c.*1020G>A	TRPC6	Single nucleotide variant (3 prime UTR variant)	Focal segmental glomerulosclerosis 2	GUncertain significance
Select item 301881	NM_004621.6(TRPC6):c.*970A>G	TRPC6	Single nucleotide variant (3 prime UTR variant)	Focal segmental glomerulosclerosis 2	GBenign
Select item 878420	NM_004621.6(TRPC6):c.*960G>C	TRPC6	Single nucleotide variant (3 prime UTR variant)	Focal segmental glomerulosclerosis 2	GUncertain significance
Select item 301882	NM_004621.6(TRPC6):c.*821C>T	TRPC6	Single nucleotide variant (3 prime UTR variant)	Focal segmental glomerulosclerosis 2	GUncertain significance
Select item 878421	NM_004621.6(TRPC6):c.*820C>T	TRPC6	Single nucleotide variant (3 prime UTR variant)	Focal segmental glomerulosclerosis 2	GUncertain significance
Select item 301883	NM_004621.6(TRPC6):c.*792G>A	TRPC6	Single nucleotide variant (3 prime UTR variant)	Focal segmental glomerulosclerosis 2	GUncertain significance
Select item 301884	NM_004621.6(TRPC6):c.710_711insTTTA	TRPC6	Insertion (3 prime UTR variant)	Focal segmental glomerulosclerosis	GBenign
Select item 301885	NM_004621.6(TRPC6):c.*668G>A	TRPC6	Single nucleotide variant (3 prime UTR variant)	Focal segmental glomerulosclerosis 2	GUncertain significance
Select item 301886	NM_004621.6(TRPC6):c.*575C>A	TRPC6	Single nucleotide variant (3 prime UTR variant)	Focal segmental glomerulosclerosis 2	GUncertain significance
Select item 301887	NM_004621.6(TRPC6):c.*553T>G	TRPC6	Single nucleotide variant (3 prime UTR variant)	Focal segmental glomerulosclerosis 2 +1 more	GBenign
Select item 301888	NM_004621.6(TRPC6):c.*530T>C	TRPC6	Single nucleotide variant (3 prime UTR variant)	Focal segmental glomerulosclerosis 2	GBenign
Select item 301889	NM_004621.6(TRPC6):c.509_512dup	TRPC6	Duplication (3 prime UTR variant)	Focal segmental glomerulosclerosis	GLikely benign
Select item 879012	NM_004621.6(TRPC6):c.*507T>A	TRPC6	Single nucleotide variant (3 prime UTR variant)	Focal segmental glomerulosclerosis 2	GUncertain significance
Select item 301890	NM_004621.6(TRPC6):c.*337G>A	TRPC6	Single nucleotide variant (3 prime UTR variant)	Focal segmental glomerulosclerosis 2	GBenign
Select item 301891	NM_004621.6(TRPC6):c.*336C>T	TRPC6	Single nucleotide variant (3 prime UTR variant)	Focal segmental glomerulosclerosis 2	GBenign
Select item 301892	NM_004621.6(TRPC6):c.*314C>G	TRPC6	Single nucleotide variant (3 prime UTR variant)	Focal segmental glomerulosclerosis 2	GBenign
Select item 879013	NM_004621.6(TRPC6):c.*293G>C	TRPC6	Single nucleotide variant (3 prime UTR variant)	Focal segmental glomerulosclerosis 2	GUncertain significance
Select item 879014	NM_004621.6(TRPC6):c.*218C>T	TRPC6	Single nucleotide variant (3 prime UTR variant)	Focal segmental glomerulosclerosis 2	GBenign
Select item 301893	NM_004621.6(TRPC6):c.*175A>C	TRPC6	Single nucleotide variant (3 prime UTR variant)	Focal segmental glomerulosclerosis 2	GUncertain significance
Select item 880228	NM_004621.6(TRPC6):c.*147T>C	TRPC6	Single nucleotide variant (3 prime UTR variant)	Focal segmental glomerulosclerosis 2	GUncertain significance
Select item 236151	NM_004621.6(TRPC6):c.*86C>T	TRPC6	Single nucleotide variant (3 prime UTR variant)	Prednisolone response	Gdrug response
Select item 301894	NM_004621.6(TRPC6):c.*40T>G	TRPC6	Single nucleotide variant (3 prime UTR variant)	Focal segmental glomerulosclerosis 2	GBenign
Select item 301895	NM_004621.6(TRPC6):c.*33del	TRPC6	Deletion (3 prime UTR variant)	Focal segmental glomerulosclerosis	GLikely benign
Select item 301896	NM_004621.6(TRPC6):c.*13C>T	TRPC6	Single nucleotide variant (3 prime UTR variant)	Focal segmental glomerulosclerosis 2	GBenign
Select item 301897	NM_004621.6(TRPC6):c.*9C>T	TRPC6	Single nucleotide variant (3 prime UTR variant)	Focal segmental glomerulosclerosis 2	GBenign
Select item 880229	NM_004621.6(TRPC6):c.*3C>T	TRPC6	Single nucleotide variant (3 prime UTR variant)	Focal segmental glomerulosclerosis 2	GLikely benign
Select item 1333924	NM_004621.6(TRPC6):c.2794T>A (p.Ter932Lys)	TRPC6	Single nucleotide variant (stop lost)	Focal segmental glomerulosclerosis 2	GUncertain significance
Select item 301898	NM_004621.6(TRPC6):c.2770C>T (p.Pro924Ser)	TRPC6 (P924S)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 147688	GRCh38/hg38 11q22.1-22.3(chr11:101452984-104044105)x3	ANGPTL5, BIRC2 +73 more	Copy number gain	See cases	GPathogenic
Select item 1945330	NM_004621.6(TRPC6):c.2751A>G (p.Gly917=)	TRPC6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3598779	NM_004621.6(TRPC6):c.2738T>C (p.Ile913Thr)	TRPC6 (I913T)	Single nucleotide variant (missense variant)	Focal segmental glomerulosclerosis 2	GUncertain significance
Select item 1399058	NM_004621.6(TRPC6):c.2732A>G (p.Glu911Gly)	TRPC6 (E911G)	Single nucleotide variant (missense variant)	Focal segmental glomerulosclerosis 2 +1 more	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 972681	NM_004621.6(TRPC6):c.2711A>G (p.Gln904Arg)	TRPC6 (Q904R)	Single nucleotide variant (missense variant)	Focal segmental glomerulosclerosis 2 +1 more	GUncertain significance
Select item 1675196	NM_004621.6(TRPC6):c.2694_2696del (p.Leu899del)	TRPC6 (L899del)	Deletion (inframe_deletion)	Focal segmental glomerulosclerosis 2	GUncertain significance
Select item 1504689	NM_004621.6(TRPC6):c.2695C>T (p.Leu899Phe)	TRPC6 (L899F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3234872	NM_004621.6(TRPC6):c.2692C>G (p.Leu898Val)	TRPC6 (L898V)	Single nucleotide variant (missense variant)	Focal segmental glomerulosclerosis 2	GUncertain significance
Select item 6156	NM_004621.6(TRPC6):c.2689G>A (p.Glu897Lys)	TRPC6 (E897K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely pathogenic
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 1344650	NM_004621.6(TRPC6):c.2684G>T (p.Arg895Leu)	TRPC6 (R895L)	Single nucleotide variant (missense variant)	TRPC6-related disorder +1 more	GPathogenic
Select item 1040107	NM_004621.6(TRPC6):c.2684G>A (p.Arg895His)	TRPC6 (R895H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 6155	NM_004621.6(TRPC6):c.2683C>T (p.Arg895Cys)	TRPC6 (R895C)	Single nucleotide variant (missense variant)	Focal segmental glomerulosclerosis 2 +1 more	GPathogenic
Select item 805688	NM_004621.6(TRPC6):c.2678G>T (p.Ser893Ile)	TRPC6 (S893I)	Single nucleotide variant (missense variant)	Focal segmental glomerulosclerosis 2 +1 more	GUncertain significance
Select item 3598780	NM_004621.6(TRPC6):c.2672T>C (p.Ile891Thr)	TRPC6 (I891T)	Single nucleotide variant (missense variant)	Focal segmental glomerulosclerosis 2	GUncertain significance
Select item 1712394	NM_004621.6(TRPC6):c.2668G>C (p.Asp890His)	TRPC6 (D890H)	Single nucleotide variant (missense variant)	Focal segmental glomerulosclerosis	GUncertain significance
Select item 812903	NM_004621.6(TRPC6):c.2668G>A (p.Asp890Asn)	TRPC6 (D890N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3598781	NM_004621.6(TRPC6):c.2665C>A (p.Gln889Lys)	TRPC6 (Q889K)	Single nucleotide variant (missense variant)	Focal segmental glomerulosclerosis 2	GLikely pathogenic
Select item 3377201	NM_004621.6(TRPC6):c.2665del (p.Gln889fs)	TRPC6 (Q889fs)	Deletion (frameshift variant)	Focal segmental glomerulosclerosis 2	GLikely pathogenic
Select item 988135	NM_004621.6(TRPC6):c.2645-1G>A	TRPC6	Single nucleotide variant (splice acceptor variant)	Nephrotic syndrome	GUncertain significance
Select item 236152	NM_004621.6(TRPC6):c.2645-8T>C	TRPC6	Single nucleotide variant (intron variant)	Prednisolone response	Gdrug response
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 236153	NM_004621.6(TRPC6):c.2644+78G>T	TRPC6	Single nucleotide variant (intron variant)	Prednisolone response	Gdrug response
Select item 236154	NM_004621.6(TRPC6):c.2644+29C>T	TRPC6	Single nucleotide variant (intron variant)	Prednisolone response	Gdrug response
Select item 236155	NM_004621.6(TRPC6):c.2644+27C>G	TRPC6	Single nucleotide variant (intron variant)	Prednisolone response	Gdrug response
Select item 974548	NM_004621.6(TRPC6):c.2643dup (p.Gly882fs)	TRPC6 (G882fs)	Duplication (frameshift variant)	Focal segmental glomerulosclerosis 2	GPathogenic
Select item 3329183	NM_004621.6(TRPC6):c.2641G>A (p.Glu881Lys)	TRPC6 (E881K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 974547	NM_004621.6(TRPC6):c.2641G>T (p.Glu881Ter)	TRPC6 (E881*)	Single nucleotide variant (nonsense)	Focal segmental glomerulosclerosis 2	GLikely pathogenic
Select item 1667504	NM_004621.6(TRPC6):c.2640C>T (p.Asn880=)	TRPC6	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3236154	NM_004621.6(TRPC6):c.2619_2626del (p.Asp873fs)	TRPC6 (D873fs)	Deletion (frameshift variant)	Focal segmental glomerulosclerosis 2	GLikely pathogenic
Select item 3047666	NM_004621.6(TRPC6):c.2625G>A (p.Glu875=)	TRPC6	Single nucleotide variant (synonymous variant)	TRPC6-related disorder	GLikely benign
Select item 1976845	NM_004621.6(TRPC6):c.2621A>G (p.Lys874Arg)	TRPC6 (K874R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 6154	NM_004621.6(TRPC6):c.2620A>T (p.Lys874Ter)	TRPC6 (K874*)	Single nucleotide variant (nonsense)	Focal segmental glomerulosclerosis 2	GPathogenic
Select item 2058613	NM_004621.6(TRPC6):c.2615T>C (p.Ile872Thr)	TRPC6 (I872T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3598782	NM_004621.6(TRPC6):c.2603_2611dup (p.Ala870_Gln871insLeuGlnAla)	TRPC6	Duplication	Focal segmental glomerulosclerosis 2	GUncertain significance
Select item 1345297	NM_004621.6(TRPC6):c.2611C>T (p.Gln871Ter)	TRPC6 (Q871*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 994835	NM_004621.6(TRPC6):c.2605C>T (p.Gln869Ter)	TRPC6 (Q869*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2896344	NM_004621.6(TRPC6):c.2601A>C (p.Val867=)	TRPC6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2506480	NM_004621.6(TRPC6):c.2592_2595dup (p.Tyr866fs)	TRPC6 (Y866fs)	Duplication (frameshift variant)	Focal segmental glomerulosclerosis 2	GLikely pathogenic
Select item 1650581	NM_004621.6(TRPC6):c.2583G>A (p.Arg861=)	TRPC6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3598783	NM_004621.6(TRPC6):c.2578_2581dup (p.Arg861fs)	TRPC6 (R861fs)	Duplication (frameshift variant)	Focal segmental glomerulosclerosis 2	GLikely pathogenic
Select item 301899	NM_004621.6(TRPC6):c.2574A>C (p.Ile858=)	TRPC6	Single nucleotide variant (synonymous variant)	Focal segmental glomerulosclerosis 2 +1 more	GConflicting classifications of pathogenicity
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 1099574	NM_004621.6(TRPC6):c.2568+9G>A	TRPC6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1494646	NM_004621.6(TRPC6):c.2555C>T (p.Pro852Leu)	TRPC6 (P852L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3598784	NM_004621.6(TRPC6):c.2544C>A (p.Phe848Leu)	TRPC6 (F848L)	Single nucleotide variant (missense variant)	Focal segmental glomerulosclerosis 2	GUncertain significance
Select item 562370	NM_004621.6(TRPC6):c.2534T>G (p.Leu845Arg)	TRPC6 (L845R)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
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 737270	NM_004621.6(TRPC6):c.2526T>C (p.Asp842=)	TRPC6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 301900	NM_004621.6(TRPC6):c.2508T>C (p.Ser836=)	TRPC6	Single nucleotide variant (synonymous variant)	Focal segmental glomerulosclerosis 2	GUncertain significance
Select item 1011816	NM_004621.6(TRPC6):c.2504C>G (p.Pro835Arg)	TRPC6 (P835R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1712370	NM_004621.6(TRPC6):c.2488G>A (p.Gly830Arg)	TRPC6 (G830R)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1028795	NM_004621.6(TRPC6):c.2486T>A (p.Val829Asp)	TRPC6 (V829D)	Single nucleotide variant (missense variant)	Focal segmental glomerulosclerosis 2	GUncertain significance
Select item 2800072	NM_004621.6(TRPC6):c.2485-11T>G	TRPC6	Single nucleotide variant (intron variant)	not provided	GLikely benign

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