ClinVar for Gene (Select 7727) - ClinVar

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Links from Gene

Items: 76

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3335036	NM_003450.3(ZNF174):c.995G>A (p.Gly332Glu)	ZNF174 (G332E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3243222	NC_000016.9:g.(?_339420)_(3767509_?)dup	ABCA3, AMDHD2 +142 more	Duplication	Epilepsy +2 more	GUncertain significance
Select item 3194190	NM_003450.3(ZNF174):c.781C>T (p.Arg261Trp)	ZNF174 (R261W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3194189	NM_003450.3(ZNF174):c.752G>A (p.Gly251Glu)	ZNF174 (G251E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3194188	NM_003450.3(ZNF174):c.681A>C (p.Lys227Asn)	ZNF174 (K227N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3194187	NM_003450.3(ZNF174):c.597A>C (p.Gln199His)	ZNF174 (Q199H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3194186	NM_003450.3(ZNF174):c.484C>G (p.Gln162Glu)	ZNF174 (Q162E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3194183	NM_003450.3(ZNF174):c.424C>A (p.Gln142Lys)	ZNF174 (Q142K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063409	GRCh37/hg19 16p13.3(chr16:3112024-3506789)x3	IL32, MEFV +14 more	Copy number gain	not specified	GUncertain significance
Select item 3024595	GRCh37/hg19 16p13.3(chr16:2990033-4837646)x1	UBALD1, VASN +52 more	Copy number loss	not provided	GPathogenic
Select item 2685541	GRCh37/hg19 16p13.3(chr16:3282468-3467436)x1	MEFV, MTRNR2L4 +7 more	Copy number loss	not provided	GUncertain significance
Select item 2684776	GRCh37/hg19 16p13.3(chr16:2643569-3716657)x3	BICDL2, C16orf90 +42 more	Copy number gain	not provided	GUncertain significance
Select item 2684774	GRCh37/hg19 16p13.3(chr16:2606711-3935836)x3	BICDL2, C16orf90 +43 more	Copy number gain	not provided	GPathogenic
Select item 2681656	NM_003450.3(ZNF174):c.489G>A (p.Pro163=)	ZNF174	Single nucleotide variant (synonymous variant)	EBV-positive nodal T- and NK-cell lymphoma	GLikely benign
Select item 2646105	NM_003450.3(ZNF174):c.849A>G (p.Glu283=)	ZNF174	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2610117	NM_003450.3(ZNF174):c.944G>A (p.Gly315Asp)	ZNF174 (G315D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2593300	NM_003450.3(ZNF174):c.895A>G (p.Lys299Glu)	ZNF174 (K299E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2589257	NM_003450.3(ZNF174):c.929G>A (p.Arg310His)	ZNF174 (R310H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2588318	NM_003450.3(ZNF174):c.590T>C (p.Leu197Pro)	ZNF174 (L197P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2526273	NM_003450.3(ZNF174):c.772C>T (p.Arg258Trp)	ZNF174 (R258W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2523009	NM_003450.3(ZNF174):c.314G>A (p.Arg105Gln)	ZNF174 (R105Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2492583	NM_003450.3(ZNF174):c.819T>G (p.Phe273Leu)	ZNF174 (F273L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2458431	NM_003450.3(ZNF174):c.1007C>T (p.Thr336Met)	ZNF174 (T336M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2457579	NM_003450.3(ZNF174):c.773G>A (p.Arg258Gln)	ZNF174 (R258Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2425098	NC_000016.9:g.(?_3293141)_(5971108_?)dup	NUDT16L1, MEFV +45 more	Duplication	Rubinstein-Taybi syndrome	GUncertain significance
Select item 2425037	NC_000016.9:g.(?_256302)_(4852572_?)dup	CAPN15, CCDC154 +170 more	Duplication	Hyperaldosteronism, familial, type IV +3 more	GUncertain significance
Select item 2396691	NM_003450.3(ZNF174):c.196C>G (p.Gln66Glu)	ZNF174 (Q66E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2358450	NM_003450.3(ZNF174):c.519C>A (p.Ser173Arg)	ZNF174 (S173R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2337177	NM_003450.3(ZNF174):c.565C>A (p.Pro189Thr)	ZNF174 (P189T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2316127	NM_003450.3(ZNF174):c.584C>G (p.Ser195Cys)	ZNF174 (S195C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2315740	NM_003450.3(ZNF174):c.85G>C (p.Glu29Gln)	ZNF174 (E29Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2309584	NM_003450.3(ZNF174):c.518G>C (p.Ser173Thr)	ZNF174 (S173T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2308361	NM_003450.3(ZNF174):c.380C>G (p.Ala127Gly)	ZNF174 (A127G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2288895	NM_003450.3(ZNF174):c.496C>T (p.Pro166Ser)	ZNF174 (P166S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2257501	NM_003450.3(ZNF174):c.298C>T (p.Pro100Ser)	ZNF174 (P100S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2251959	NM_003450.3(ZNF174):c.532C>T (p.Pro178Ser)	ZNF174 (P178S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2230918	NM_003450.3(ZNF174):c.517A>G (p.Ser173Gly)	ZNF174 (S173G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2227861	NM_003450.3(ZNF174):c.860G>T (p.Ser287Ile)	ZNF174 (S287I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1710928	GRCh37/hg19 16p13.3(chr16:111043-6627459)x3	ABCA3, ADCY9 +187 more	Copy number gain	See cases	GPathogenic
Select item 1455963	NC_000016.9:g.(?_3293141)_(3929917_?)del	C16orf90, CLUAP1 +15 more	Deletion	Rubinstein-Taybi syndrome	GPathogenic
Select item 1180508	GRCh37/hg19 16p13.3(chr16:84485-5251013)x3	JPT2, KCTD5 +188 more	Copy number gain	not provided	GPathogenic
Select item 983281	GRCh37/hg19 16p13.3-11.2(chr16:2959279-30190593)x3	ABAT, ABCC1 +252 more	Copy number gain	See cases	GPathogenic
Select item 980573	GRCh37/hg19 16p13.3(chr16:85880-5249457)x3	ABCA3, ADCY9 +188 more	Copy number gain	not provided	GPathogenic
Select item 815770	GRCh37/hg19 16p13.3(chr16:2651354-4614965)x3	ADCY9, BICDL2 +56 more	Copy number gain	not provided	GPathogenic
Select item 689245	GRCh37/hg19 16p13.3(chr16:3112024-3738078)x3	C16orf90, CLUAP1 +20 more	Copy number gain	not provided	GUncertain significance
Select item 625723	GRCh37/hg19 16p13.3(chr16:109978-4316797)	ABCA3, ADCY9 +159 more	Copy number gain	Chromosome 16p13.3 duplication syndrome	GPathogenic
Select item 564259	GRCh37/hg19 16p13.3(chr16:3265427-3731182)x3	NAA60, MTRNR2L4 +15 more	Copy number gain	not provided	GUncertain significance
Select item 564258	GRCh37/hg19 16p13.3(chr16:2651354-4460114)x3	ADCY9, BICDL2 +51 more	Copy number gain	not provided	GPathogenic
Select item 564256	GRCh37/hg19 16p13.3(chr16:1505184-4415346)x3	ABCA3, ADCY9 +103 more	Copy number gain	not provided	GPathogenic
Select item 564254	GRCh37/hg19 16p13.3-13.13(chr16:85880-11209288)x3	ABAT, ABCA3 +206 more	Copy number gain	not provided	GPathogenic
Select item 443477	GRCh37/hg19 16p13.3-13.2(chr16:85880-9883129)x3	ABAT, ABCA3 +198 more	Copy number gain	See cases	GPathogenic
Select item 443444	GRCh37/hg19 16p13.3(chr16:3146027-6362229)x1	ADCY9, ALG1 +50 more	Copy number loss	See cases	GPathogenic
Select item 443183	GRCh37/hg19 16p13.3-12.2(chr16:85880-22442007)x3	ABAT, ABCA3 +295 more	Copy number gain	See cases	GPathogenic
Select item 443121	GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)x3	ZC3H7A, ZCCHC14 +811 more	Copy number gain	See cases	GPathogenic
Select item 443120	GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)	AARS1, ABAT +811 more	Copy number gain	See cases	GPathogenic
Select item 442872	GRCh37/hg19 16p13.3-12.3(chr16:85880-19806921)x3	PRSS27, PRSS33 +263 more	Copy number gain	See cases	GPathogenic
Select item 442459	GRCh37/hg19 16p13.3(chr16:2891391-4440397)x3	ADCY9, BICDL2 +42 more	Copy number gain	See cases	GUncertain significance
Select item 395719	GRCh37/hg19 16p13.3-13.2(chr16:78801-9169448)	CLDN6, CLDN9 +196 more	Copy number gain	See cases	GPathogenic
Select item 395502	GRCh37/hg19 16p13.3-q24.3(chr16:69193-90274381)x3	DPEP2, DPEP3 +811 more	Copy number gain	See cases	GPathogenic
Select item 394840	GRCh37/hg19 16p13.3(chr16:97133-5122974)x3	ABCA3, ADCY9 +187 more	Copy number gain	See cases	GPathogenic
Select item 375693	maternal UPD(16p)	ALG1, BICDL2 +388 more	Complex	Hemimegalencephaly	GPathogenic
Select item 253729	GRCh37/hg19 16p13.3(chr16:3104050-3722491)x3	C16orf90, CLUAP1 +21 more	Copy number gain	See cases	GUncertain significance
Select item 253470	GRCh37/hg19 16p13.3(chr16:2867891-3942436)x3	BICDL2, C16orf90 +36 more	Copy number gain	See cases	GPathogenic
Select item 221511	GRCh37/hg19 16p13.3-12.3(chr16:1274615-19073133)x3	AMDHD2, ANKS3 +202 more	Copy number gain	Breast ductal adenocarcinoma	GUncertain significance
Select item 221391	GRCh37/hg19 16p13.3-11.2(chr16:1279324-31926800)x3	ABAT, ABCA3 +384 more	Copy number gain	Breast ductal adenocarcinoma	GUncertain significance
Select item 219021	GRCh37/hg19 16p13.3-11.2(chr16:102839-28327676)x3	ABAT, ABCA3 +330 more	Copy number gain	See cases	GPathogenic
Select item 207844	NM_003450.3(ZNF174):c.1204C>T (p.Arg402Ter)	ZNF174 (R402*)	Single nucleotide variant (nonsense)	Long QT syndrome	GLikely benign
Select item 155643	GRCh38/hg38 16p13.3-13.11(chr16:666662-15743104)x3	LOC130058149, LOC130058150 +925 more	Copy number gain	See cases	GPathogenic
Select item 151030	GRCh38/hg38 16p13.3(chr16:3061267-3666094)x3	C16orf90, CLUAP1 +101 more	Copy number gain	See cases	GUncertain significance
Select item 150284	GRCh38/hg38 16p13.3-13.12(chr16:43732-13326806)x3	LOC130058535, LOC130058536 +916 more	Copy number gain	See cases	GPathogenic
Select item 149298	GRCh38/hg38 16p13.3(chr16:3303551-3965374)x3	ADCY9, C16orf90 +50 more	Copy number gain	See cases	GLikely pathogenic
Select item 147509	GRCh38/hg38 16p13.3(chr16:46766-4247185)x3	LOC125146383, LOC125146384 +556 more	Copy number gain	See cases	GPathogenic
Select item 144298	GRCh38/hg38 16p13.3-13.13(chr16:46766-11525516)x3	LOC105371046, LOC105371050 +842 more	Copy number gain	See cases	GPathogenic
Select item 59428	GRCh38/hg38 16p13.3(chr16:2850734-7110697)x1	ADCY9, ALG1 +262 more	Copy number loss	See cases	GPathogenic
Select item 58620	GRCh38/hg38 16p13.3(chr16:2717952-4041020)x3	ADCY9, BICDL2 +180 more	Copy number gain	See cases	GPathogenic
Select item 58594	GRCh38/hg38 16p13.3-13.13(chr16:23141-11296695)x3	LOC112340388, LOC112441449 +821 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 76