396[geneid] - ClinVar

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Items: 79

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58703	GRCh38/hg38 17q24.3-25.3(chr17:69209079-83086677)x3	MIR636, MIR6516 +1033 more	Copy number gain	See cases	GPathogenic
Select item 155275	GRCh38/hg38 17q24.3-25.3(chr17:69916435-83102552)x3	AANAT, AATK +1013 more	Copy number gain	See cases	GPathogenic
Select item 57076	GRCh38/hg38 17q25.3(chr17:78092236-83086677)x3	AATK, ACTG1 +513 more	Copy number gain	See cases	GPathogenic
Select item 57263	GRCh38/hg38 17q25.3(chr17:78901959-83086677)x3	AATK, ACTG1 +387 more	Copy number gain	See cases	GPathogenic
Select item 58714	GRCh38/hg38 17q25.3(chr17:78918650-83021095)x3	AATK, ACTG1 +385 more	Copy number gain	See cases	GPathogenic
Select item 149717	GRCh38/hg38 17q25.3(chr17:81008196-83102584)x3	AATK, ACTG1 +262 more	Copy number gain	See cases	GPathogenic
Select item 153720	GRCh38/hg38 17q25.3(chr17:81401966-83084062)x1	ACTG1, ALYREF +226 more	Copy number loss	See cases	GLikely pathogenic
Select item 154540	GRCh38/hg38 17q25.3(chr17:81859688-82017612)x1	ALYREF, ANAPC11 +40 more	Copy number loss	See cases	GBenign
Select item 3045377	NM_004309.6(ARHGDIA):c.*421G>A	ARHGDIA (R211Q)	Single nucleotide variant (3 prime UTR variant +3 more)	ARHGDIA-related condition	GLikely benign
Select item 2773084	NM_004309.6(ARHGDIA):c.458_*278delinsTCTCCTGTCTCGTTGCTGCTTCTGCCTGTG (p.Ala153fs)	ARHGDIA (A153fs +1 more)	Indel (frameshift variant +3 more)	not provided	GUncertain significance
Select item 915863	NM_004309.6(ARHGDIA):c.*243G>A	ARHGDIA (G249E)	Single nucleotide variant (3 prime UTR variant +3 more)	Chronic kidney disease +2 more	GConflicting classifications of pathogenicity
Select item 3044624	NM_004309.6(ARHGDIA):c.*217C>T	ARHGDIA	Single nucleotide variant (3 prime UTR variant +3 more)	ARHGDIA-related condition	GLikely benign
Select item 3044030	NM_004309.6(ARHGDIA):c.*208C>G	ARHGDIA	Single nucleotide variant (3 prime UTR variant +3 more)	ARHGDIA-related condition	GLikely benign
Select item 3064694	NM_004309.6(ARHGDIA):c.*167dup	ARHGDIA (L224fs)	Duplication (3 prime UTR variant +3 more)	Nephrotic syndrome, type 8	GLikely pathogenic
Select item 3051366	NM_004309.6(ARHGDIA):c.*168T>C	ARHGDIA (L224P)	Single nucleotide variant (3 prime UTR variant +3 more)	ARHGDIA-related condition	GLikely benign
Select item 522880	NM_004309.6(ARHGDIA):c.*65dup	ARHGDIA (Q190fs)	Duplication (3 prime UTR variant +3 more)	Finnish congenital nephrotic syndrome	GUncertain significance
Select item 1030364	NM_004309.6(ARHGDIA):c.*41A>G	ARHGDIA (T182A)	Single nucleotide variant (3 prime UTR variant +3 more)	Nephrotic syndrome, type 8	GUncertain significance
Select item 3045251	NM_004309.6(ARHGDIA):c.*35C>T	ARHGDIA (R180W)	Single nucleotide variant (3 prime UTR variant +3 more)	ARHGDIA-related condition	GUncertain significance
Select item 2312587	NM_004309.6(ARHGDIA):c.560C>A (p.Thr187Asn)	ARHGDIA (T232N +3 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2253277	NM_004309.6(ARHGDIA):c.555C>G (p.Asp185Glu)	ARHGDIA (D230E +3 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 50501	NM_004309.6(ARHGDIA):c.547GAC[2] (p.Asp185del)	ARHGDIA (D185del +1 more)	Microsatellite (inframe_deletion +2 more)	Nephrotic syndrome, type 8	GPathogenic
Select item 2075962	NM_004309.6(ARHGDIA):c.552C>T (p.Asp184=)	ARHGDIA (T147M)	Single nucleotide variant (non-coding transcript variant +3 more)	not provided	GBenign
Select item 2077007	NM_004309.6(ARHGDIA):c.549C>T (p.Asp183=)	ARHGDIA (T146M)	Single nucleotide variant (non-coding transcript variant +3 more)	not provided	GBenign
Select item 140593	NM_004309.6(ARHGDIA):c.518G>T (p.Gly173Val)	ARHGDIA (G173V +1 more)	Single nucleotide variant (missense variant +2 more)	Nephrotic syndrome, type 8	GPathogenic
Select item 2885989	NM_004309.6(ARHGDIA):c.474C>T (p.Phe158=)	ARHGDIA	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 727690	NM_004309.6(ARHGDIA):c.432C>T (p.Tyr144=)	ARHGDIA	Single nucleotide variant (synonymous variant +2 more)	not provided +1 more	GBenign/Likely benign
Select item 713710	NM_004309.6(ARHGDIA):c.416-4G>A	ARHGDIA	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1941301	NM_004309.6(ARHGDIA):c.416-12C>T	ARHGDIA	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1908963	NM_004309.6(ARHGDIA):c.416-18C>G	ARHGDIA	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2968257	NM_004309.6(ARHGDIA):c.415+20G>A	ARHGDIA	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1899058	NM_004309.6(ARHGDIA):c.415+18C>T	ARHGDIA	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2876225	NM_004309.6(ARHGDIA):c.388C>A (p.Gln130Lys)	ARHGDIA (Q175K +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3128989	NM_004309.6(ARHGDIA):c.373G>C (p.Gly125Arg)	ARHGDIA (G125R +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2165626	NM_004309.6(ARHGDIA):c.369G>A (p.Val123=)	ARHGDIA	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2620910	NM_004309.6(ARHGDIA):c.368T>C (p.Val123Ala)	ARHGDIA (V123A +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 140594	NM_004309.6(ARHGDIA):c.358C>T (p.Arg120Ter)	ARHGDIA (R120* +1 more)	Single nucleotide variant (nonsense +1 more)	Nephrotic syndrome, type 8	GPathogenic
Select item 1601398	NM_004309.6(ARHGDIA):c.352-16G>A	ARHGDIA	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1240453	NM_004309.6(ARHGDIA):c.351+43G>A	ARHGDIA	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3033572	NM_004309.6(ARHGDIA):c.331C>G (p.Arg111Gly)	ARHGDIA (R111G +1 more)	Single nucleotide variant (missense variant)	ARHGDIA-related condition	GUncertain significance
Select item 2067834	NM_004309.6(ARHGDIA):c.280C>T (p.Leu94=)	ARHGDIA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2768191	NM_004309.6(ARHGDIA):c.275-30_275-16del	ARHGDIA, LOC130061973	Deletion (inframe_deletion +1 more)	not provided	GUncertain significance
Select item 1030365	NM_004309.6(ARHGDIA):c.275-20G>T	ARHGDIA, LOC130061973 (E130D)	Single nucleotide variant (intron variant +1 more)	Nephrotic syndrome, type 8 +1 more	GConflicting classifications of pathogenicity
Select item 3039326	NM_004309.6(ARHGDIA):c.275-53_275-36dup	ARHGDIA, LOC130061973	Duplication (inframe insertion +1 more)	ARHGDIA-related condition	GLikely benign
Select item 3036787	NM_004309.6(ARHGDIA):c.275-62G>C	ARHGDIA, LOC130061973	Single nucleotide variant (synonymous variant +1 more)	ARHGDIA-related condition	GLikely benign
Select item 1217718	NM_004309.6(ARHGDIA):c.274+14G>A	ARHGDIA, LOC130061973	Single nucleotide variant (intron variant +1 more)	not provided	GBenign/Likely benign
Select item 2176258	NM_004309.6(ARHGDIA):c.274+10C>T	ARHGDIA, LOC130061973 (P95L)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2160642	NM_004309.6(ARHGDIA):c.274+10del	ARHGDIA, LOC130061973 (P95fs)	Deletion (frameshift variant +1 more)	not provided	GLikely benign
Select item 2987393	NM_004309.6(ARHGDIA):c.250G>T (p.Gly84Cys)	ARHGDIA, LOC130061973 (G84C)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1912594	NM_004309.6(ARHGDIA):c.245C>T (p.Ala82Val)	ARHGDIA, LOC130061973 (A82V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3128988	NM_004309.6(ARHGDIA):c.239G>C (p.Ser80Thr)	ARHGDIA, LOC130061973 (S80T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2023476	NM_004309.6(ARHGDIA):c.207C>T (p.Asn69=)	ARHGDIA, LOC130061973	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2396716	NM_004309.6(ARHGDIA):c.206A>G (p.Asn69Ser)	ARHGDIA, LOC130061973 (N69S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2257556	NM_004309.6(ARHGDIA):c.202C>T (p.Pro68Ser)	ARHGDIA, LOC130061973 (P68S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1988695	NM_004309.6(ARHGDIA):c.186C>T (p.Ser62=)	ARHGDIA, LOC130061974	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2443616	NM_004309.6(ARHGDIA):c.185C>T (p.Ser62Phe)	ARHGDIA, LOC130061974 (S62F)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 3128987	NM_004309.6(ARHGDIA):c.179C>G (p.Ala60Gly)	ARHGDIA, LOC130061974 (A60G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1177422	NM_004309.6(ARHGDIA):c.151T>C (p.Tyr51His)	ARHGDIA, LOC130061974 (Y51H)	Single nucleotide variant (missense variant +1 more)	Nephrotic syndrome, type 8	GUncertain significance
Select item 1566435	NM_004309.6(ARHGDIA):c.135C>T (p.Asp45=)	ARHGDIA, LOC130061974	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2321741	NM_004309.6(ARHGDIA):c.128A>G (p.Lys43Arg)	ARHGDIA, LOC130061974 (K43R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3045721	NM_004309.6(ARHGDIA):c.111G>A (p.Glu37=)	ARHGDIA, LOC130061974	Single nucleotide variant (synonymous variant +1 more)	ARHGDIA-related condition	GLikely benign
Select item 2250439	NM_004309.6(ARHGDIA):c.107A>G (p.Gln36Arg)	ARHGDIA, LOC130061974 (Q36R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2986220	NM_004309.6(ARHGDIA):c.96G>A (p.Gln32=)	ARHGDIA, LOC130061974	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2317137	NM_004309.6(ARHGDIA):c.71C>T (p.Ser24Leu)	ARHGDIA, LOC130061974 (S24L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2685609	GRCh37/hg19 17q25.3(chr17:79128754-80092824)x1	AATK, ACTG1 +41 more	Copy number loss	not provided	GLikely pathogenic
Select item 2445210	Single allele	TBCD, TEX19 +51 more	Deletion	See cases	GPathogenic
Select item 2425656	NC_000017.10:g.(?_79618104)_(79894690_?)dup	ALYREF, ANAPC11 +17 more	Duplication	not provided	GUncertain significance
Select item 2424500	NC_000017.10:g.(?_79477716)_(80900339_?)dup	MAFG, MCRIP1 +52 more	Duplication	not provided	GUncertain significance
Select item 1701331	GRCh37/hg19 17q25.1-25.3(chr17:73481509-81043199)x3	SLC26A11, SLC38A10 +146 more	Copy number gain	not provided	GPathogenic
Select item 689209	GRCh37/hg19 17q24.1-25.3(chr17:62778720-81041938)x3	AANAT, AATK +226 more	Copy number gain	not provided	GPathogenic
Select item 687727	GRCh37/hg19 17q25.3(chr17:78608912-81041938)x3	AATK, ACTG1 +65 more	Copy number gain	not provided	GPathogenic
Select item 687520	GRCh37/hg19 17q25.3(chr17:79663313-80197463)x3	ALYREF, ANAPC11 +26 more	Copy number gain	not provided	GUncertain significance
Select item 564476	GRCh37/hg19 17q25.3(chr17:76552611-81041938)x3	AATK, ACTG1 +88 more	Copy number gain	not provided	GLikely pathogenic
Select item 564463	GRCh37/hg19 17q24.1-25.3(chr17:63689671-81041938)x3	AANAT, AATK +222 more	Copy number gain	not provided	GPathogenic
Select item 443488	GRCh37/hg19 17q24.2-25.3(chr17:67002415-81041938)x3	AANAT, AATK +202 more	Copy number gain	See cases	GPathogenic
Select item 443446	GRCh37/hg19 17q25.1-25.3(chr17:73951701-81041938)x3	AANAT, AATK +128 more	Copy number gain	See cases	GPathogenic
Select item 441816	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3	EFTUD2, EIF1 +1143 more	Copy number gain	See cases	GPathogenic
Select item 441815	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)	KRT15, KRT16 +1143 more	Copy number gain	See cases	GPathogenic
Select item 395646	GRCh37/hg19 17q21.31-25.3(chr17:42580684-81085615)x3	AANAT, AATK +458 more	Copy number gain	See cases	GPathogenic
Select item 393782	GRCh37/hg19 17q25.3(chr17:79817155-79829187)x3	ARHGDIA, P4HB	Copy number gain	See cases	GBenign

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Items: 79