ClinVar for Gene (Select 115992) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3314768	NM_178841.4(RNF166):c.29C>T (p.Ser10Leu)	RNF166 (S10L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3314767	NM_178841.4(RNF166):c.164G>A (p.Gly55Glu)	RNF166 (G55E)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3314766	NM_178841.4(RNF166):c.163G>A (p.Gly55Arg)	RNF166 (G55R)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3314765	NM_178841.4(RNF166):c.41G>A (p.Arg14Gln)	RNF166 (R14Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3243615	NC_000016.9:g.(?_87636753)_(88808850_?)del	BANP, CA5A +13 more	Deletion	not provided	GUncertain significance
Select item 3243329	NC_000016.9:g.(?_88717344)_(90106937_?)dup	ACSF3, ANKRD11 +36 more	Duplication	KBG syndrome	GUncertain significance
Select item 3243328	NC_000016.9:g.(?_87921735)_(89484776_?)del	ZNF469, ZNF778 +21 more	Deletion	KBG syndrome	GPathogenic
Select item 3242307	GRCh37/hg19 16q23.3-24.3(chr16:82865402-90163542)x3	ACSF3, ADAD2 +87 more	Copy number gain	not provided	GPathogenic
Select item 3155142	NM_178841.4(RNF166):c.86C>G (p.Ala29Gly)	RNF166 (A29G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3155141	NM_178841.4(RNF166):c.65G>A (p.Gly22Asp)	RNF166 (G22D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3155140	NM_178841.4(RNF166):c.627G>C (p.Lys209Asn)	RNF166 (K128N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3155139	NM_178841.4(RNF166):c.587A>G (p.Lys196Arg)	RNF166 (K196R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3155138	NM_178841.4(RNF166):c.472C>T (p.Arg158Cys)	RNF166 (R77C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3155137	NM_178841.4(RNF166):c.41G>C (p.Arg14Pro)	RNF166 (R14P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3155136	NM_178841.4(RNF166):c.391G>A (p.Val131Ile)	RNF166 (V50I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3155135	NM_178841.4(RNF166):c.383C>T (p.Pro128Leu)	RNF166 (P128L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3155134	NM_178841.4(RNF166):c.377A>G (p.Asn126Ser)	RNF166 (N45S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3155133	NM_178841.4(RNF166):c.248A>G (p.Lys83Arg)	RNF166 (K83R)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3155132	NM_178841.4(RNF166):c.122A>G (p.His41Arg)	RNF166 (H41R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3155131	NM_178841.4(RNF166):c.117C>G (p.Val39=)	RNF166	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 3063445	GRCh37/hg19 16q24.2-24.3(chr16:88445361-88818583)x3	CTU2, CYBA +8 more	Copy number gain	not specified	GUncertain significance
Select item 3063444	GRCh37/hg19 16q24.2-24.3(chr16:88153961-89104917)x1	APRT, CBFA2T3 +14 more	Copy number loss	not specified	GUncertain significance
Select item 3024606	GRCh37/hg19 16q24.2-24.3(chr16:87866576-89424113)x1	MVD, PABPN1L +22 more	Copy number loss	not provided	GPathogenic
Select item 2685589	GRCh37/hg19 16q24.2-24.3(chr16:88647290-88859285)x1	CTU2, CYBA +6 more	Copy number loss	not provided	GUncertain significance
Select item 2685587	GRCh37/hg19 16q24.2-24.3(chr16:88067200-89460290)x1	ACSF3, ANKRD11 +20 more	Copy number loss	not provided	GPathogenic
Select item 2536908	NM_178841.4(RNF166):c.394C>A (p.Pro132Thr)	RNF166 (P132T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2522957	NM_178841.4(RNF166):c.278C>G (p.Ser93Cys)	RNF166 (S93C)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2503469	Single allele	ACSF3, ANKRD11 +116 more	Deletion	KBG syndrome	GPathogenic
Select item 2503468	Single allele	LOC130059772, LOC130059773 +138 more	Deletion	KBG syndrome	GPathogenic
Select item 2503467	Single allele	LOC121587566, LOC121587567 +218 more	Deletion	KBG syndrome	GPathogenic
Select item 2492086	NM_178841.4(RNF166):c.469G>A (p.Ala157Thr)	RNF166 (A76T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2487230	NM_178841.4(RNF166):c.62C>T (p.Ala21Val)	RNF166 (A21V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2471178	NM_178841.4(RNF166):c.536G>A (p.Arg179His)	RNF166 (R70H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2457758	NM_178841.4(RNF166):c.526G>A (p.Asp176Asn)	RNF166 (D67N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2422362	NC_000016.9:g.(?_87636753)_(90109753_?)dup	ACSF3, ANKRD11 +45 more	Duplication	Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative +2 more	GUncertain significance
Select item 2404259	NM_178841.4(RNF166):c.296G>A (p.Arg99Gln)	RNF166 (R99Q)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2357185	NM_178841.4(RNF166):c.130G>T (p.Val44Leu)	RNF166 (V44L)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2347020	NM_178841.4(RNF166):c.706G>C (p.Glu236Gln)	RNF166 (E155Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2337003	NM_178841.4(RNF166):c.574G>A (p.Asp192Asn)	RNF166 (D192N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2333461	NM_178841.4(RNF166):c.671C>T (p.Ala224Val)	RNF166 (A224V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2263706	NM_178841.4(RNF166):c.332G>C (p.Arg111Thr)	RNF166 (R2T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2258864	NM_178841.4(RNF166):c.416C>T (p.Pro139Leu)	RNF166 (P30L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2233666	NM_178841.4(RNF166):c.577C>G (p.Pro193Ala)	RNF166 (P112A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2225832	NM_178841.4(RNF166):c.397G>A (p.Val133Met)	RNF166 (V52M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2217948	NM_178841.4(RNF166):c.671C>G (p.Ala224Gly)	RNF166 (A224G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1808404	GRCh37/hg19 16q24.2-24.3(chr16:88697181-88809407)x1	CTU2, CYBA +6 more	Copy number loss	not provided	GUncertain significance
Select item 1707627	GRCh37/hg19 16q22.2-24.3(chr16:71641395-90161959)x3	ACSF3, ADAD2 +150 more	Copy number gain	Syndromic anorectal malformation	GLikely pathogenic
Select item 1676307	GRCh37/hg19 16q11.2-24.3(chr16:46503968-90155062)x3	AARS1, ABCC11 +368 more	Copy number gain	not provided	GPathogenic
Select item 1341552	NC_000016.9:g.88365786_89584412del1218627	ACSF3, ANKRD11 +21 more	Deletion	KBG syndrome	GPathogenic
Select item 1341097	GRCh37/hg19 16q24.2-24.3(chr16:88000389-90155062)x3	ACSF3, ANKRD11 +42 more	Copy number gain	not provided	GUncertain significance
Select item 1328115	GRCh37/hg19 16q23.2-24.3(chr16:80386595-90163348)x3	BANP, BCO1 +102 more	Copy number gain	not provided	GPathogenic
Select item 1074796	NC_000016.9:g.(?_88709737)_(89220635_?)del	ACSF3, APRT +11 more	Deletion	Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative	GPathogenic
Select item 979487	GRCh37/hg19 16q24.2-24.3(chr16:88222732-90155062)x3	SLC22A31, SNAI3 +41 more	Copy number gain	not provided	GUncertain significance
Select item 973025	GRCh37/hg19 16q21-24.3(chr16:61524229-90155062)x3	AARS1, ACD +268 more	Copy number gain	not provided	Gnot provided
Select item 688519	GRCh37/hg19 16q24.2-24.3(chr16:87848902-88809407)x3	BANP, CA5A +11 more	Copy number gain	not provided	GUncertain significance
Select item 686714	GRCh37/hg19 16q24.2-24.3(chr16:88453448-89569215)x1	ACSF3, ANKRD11 +20 more	Copy number loss	not provided	GPathogenic
Select item 686179	GRCh37/hg19 16q24.2-24.3(chr16:88697092-88791148)x1	CTU2, CYBA +6 more	Copy number loss	not provided	GUncertain significance
Select item 625611	GRCh37/hg19 16q23.3-24.3(chr16:82761333-90055381)	ACSF3, ADAD2 +83 more	Copy number gain	not provided	GPathogenic
Select item 585240	GRCh37/hg19 16q24.2-24.3(chr16:88317240-89079407)x3	CDT1, IL17C +15 more	Copy number gain	not provided	Gnot provided
Select item 564356	GRCh37/hg19 16q23.2-24.3(chr16:79400436-90155062)x3	ACSF3, ADAD2 +103 more	Copy number gain	not provided	GPathogenic
Select item 564342	GRCh37/hg19 16q22.2-24.3(chr16:72515938-90155062)x3	ACSF3, ADAD2 +136 more	Copy number gain	not provided	GPathogenic
Select item 560033	Single allele	IL17C, ACSF3 +29 more	Deletion	not provided	GPathogenic
Select item 523162	GRCh37/hg19 16q11.2-24.3(chr16:46455960-90354753)x1	CA7, COG8 +368 more	Copy number loss	Poly (ADP-Ribose) polymerase inhibitor response	Gdrug response
Select item 523156	GRCh37/hg19 16q11.2-24.3(chr16:46497599-90354753)x1	KCTD19, KIAA0513 +368 more	Copy number loss	Poly (ADP-Ribose) polymerase inhibitor response	Gdrug response
Select item 443126	GRCh37/hg19 16p13.2-q24.3(chr16:9273328-89548493)x3	CBLN1, CCDC102A +591 more	Copy number gain	See cases	GUncertain significance
Select item 443121	GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)x3	AARS1, ABAT +811 more	Copy number gain	See cases	GPathogenic
Select item 443120	GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)	CCL22, CCNF +811 more	Copy number gain	See cases	GPathogenic
Select item 442917	GRCh37/hg19 16q24.1-24.3(chr16:84937273-89836905)x4	ACSF3, ANKRD11 +57 more	Copy number gain	See cases	GLikely pathogenic
Select item 442884	GRCh37/hg19 16q24.1-24.3(chr16:85838574-90155062)x3	ACSF3, ANKRD11 +59 more	Copy number gain	See cases	GPathogenic
Select item 442336	GRCh37/hg19 16q24.2-24.3(chr16:88116155-89524926)x1	ACSF3, ANKRD11 +20 more	Copy number loss	See cases	GPathogenic
Select item 442214	GRCh37/hg19 16q13-24.3(chr16:57051473-89797669)x3	AARS1, ACD +292 more	Copy number gain	See cases	GPathogenic
Select item 442166	GRCh37/hg19 16q24.2-24.3(chr16:88104077-88958038)x3	APRT, BANP +15 more	Copy number gain	See cases	GLikely benign
Select item 441835	GRCh37/hg19 16q24.2-24.3(chr16:88445490-89319419)x3	ACSF3, APRT +18 more	Copy number gain	See cases	GUncertain significance
Select item 441696	GRCh37/hg19 16q23.3-24.3(chr16:83001540-90155062)x3	ACSF3, ADAD2 +87 more	Copy number gain	See cases	GLikely pathogenic
Select item 441081	GRCh37/hg19 16q24.2-24.3(chr16:87219866-89561087)x1	ACSF3, ANKRD11 +30 more	Copy number loss	not provided	Gnot provided
Select item 395502	GRCh37/hg19 16p13.3-q24.3(chr16:69193-90274381)x3	ABCC6, BCL7C +811 more	Copy number gain	See cases	GPathogenic
Select item 267485	Single allele	ACSF3, ZNF778 +17 more	Deletion	16q24.3 microdeletion syndrome	GPathogenic
Select item 267482	Single allele	ACSF3, ANKRD11 +30 more	Deletion	16q24.3 microdeletion syndrome	GPathogenic
Select item 267481	Single allele	CDT1, CTU2 +19 more	Deletion	16q24.3 microdeletion syndrome	GPathogenic
Select item 267480	Single allele	ACSF3, ANKRD11 +19 more	Deletion	16q24.3 microdeletion syndrome	GPathogenic
Select item 267479	Single allele	CDT1, APRT +11 more	Deletion	16q24.3 microdeletion syndrome	GPathogenic
Select item 267478	Single allele	CTU2, CYBA +19 more	Deletion	16q24.3 microdeletion syndrome	GPathogenic
Select item 267477	Single allele	ACSF3, ANKRD11 +14 more	Deletion	16q24.3 microdeletion syndrome	GPathogenic
Select item 267476	Single allele	ACSF3, IL17C +19 more	Deletion	16q24.3 microdeletion syndrome	GPathogenic
Select item 267475	Single allele	ZC3H18, ZCCHC14 +29 more	Deletion	16q24.3 microdeletion syndrome	GPathogenic
Select item 267474	Single allele	MVD, PABPN1L +20 more	Deletion	16q24.3 microdeletion syndrome	GPathogenic
Select item 253986	GRCh37/hg19 16q24.2-24.3(chr16:88601532-89713753)x3	ACSF3, ANKRD11 +24 more	Copy number gain	See cases	GUncertain significance
Select item 253753	GRCh37/hg19 16q24.2-24.3(chr16:87687199-89304429)x3	ACSF3, APRT +23 more	Copy number gain	See cases	GUncertain significance
Select item 253554	GRCh37/hg19 16q23.1-24.3(chr16:74872514-90274440)x3	ACSF3, ADAD2 +127 more	Copy number gain	See cases	GPathogenic
Select item 221527	GRCh37/hg19 16q22.2-24.3(chr16:72107834-90142285)x1	ACSF3, ADAD2 +140 more	Copy number loss	Breast ductal adenocarcinoma	GUncertain significance
Select item 221392	GRCh37/hg19 16q11.2-24.3(chr16:46615804-90142285)x1	ATXN1L, B3GNT9 +368 more	Copy number loss	Breast ductal adenocarcinoma	GUncertain significance
Select item 221345	Single allele	ADGRG5, CFAP263 +324 more	Complex	Breast ductal adenocarcinoma	GUncertain significance
Select item 218968	t(5;16)(p15.31;q23.1)	C16orf46, C16orf74 +150 more	Translocation	not provided	GLikely pathogenic
Select item 155557	GRCh38/hg38 16q24.1-24.3(chr16:86950106-89335814)x1	ACSF3, ANKRD11 +210 more	Copy number loss	See cases	GPathogenic
Select item 155358	GRCh38/hg38 16q12.2-24.3(chr16:52899183-90088654)x3	MIR138-2, MIR140 +1738 more	Copy number gain	See cases	GPathogenic
Select item 154631	GRCh38/hg38 16q23.2-24.3(chr16:80067315-90057871)x3	LOC130059500, LOC130059501 +691 more	Copy number gain	See cases	GPathogenic
Select item 154511	GRCh38/hg38 16q21-24.3(chr16:64389378-90081985)x3	LOC130059829, LOC130059830 +1429 more	Copy number gain	See cases	GPathogenic
Select item 153239	GRCh38/hg38 16q23.1-24.3(chr16:76336203-90088654)x3	LOC132090418, LOC132090419 +788 more	Copy number gain	See cases	GPathogenic
Select item 152591	GRCh38/hg38 16q23.2-24.3(chr16:80717291-90096662)x3	LOC132090448, LOC132090449 +677 more	Copy number gain	See cases	GPathogenic
Select item 151647	GRCh38/hg38 16q24.2-24.3(chr16:88662702-88719577)x1	CTU2, LOC130059740 +16 more	Copy number loss	See cases	GBenign

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