ClinVar for Gene (Select 26048) - ClinVar

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Links from Gene

Items: 88

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3258425	NM_021646.4(ZNF500):c.838T>C (p.Ser280Pro)	ZNF500 (S280P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3258424	NM_021646.4(ZNF500):c.932C>T (p.Pro311Leu)	ZNF500 (P311L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3258422	NM_021646.4(ZNF500):c.344C>T (p.Pro115Leu)	ZNF500 (P115L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3196219	NM_021646.4(ZNF500):c.968A>T (p.Lys323Met)	ZNF500 (K323M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3196218	NM_021646.4(ZNF500):c.745C>T (p.Pro249Ser)	ZNF500 (P249S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3196217	NM_021646.4(ZNF500):c.730G>T (p.Ala244Ser)	ZNF500 (A244S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3196216	NM_021646.4(ZNF500):c.691G>C (p.Val231Leu)	ZNF500 (V231L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3196215	NM_021646.4(ZNF500):c.607G>A (p.Ala203Thr)	ZNF500 (A203T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3196212	NM_021646.4(ZNF500):c.500A>G (p.Asp167Gly)	ZNF500 (D167G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3196211	NM_021646.4(ZNF500):c.416G>C (p.Gly139Ala)	ZNF500 (G139A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3196210	NM_021646.4(ZNF500):c.1430G>A (p.Gly477Asp)	ZNF500 (G477D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3196209	NM_021646.4(ZNF500):c.1417C>G (p.Pro473Ala)	ZNF500 (P473A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3196208	NM_021646.4(ZNF500):c.1400C>T (p.Thr467Met)	ZNF500 (T467M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3196207	NM_021646.4(ZNF500):c.1342C>T (p.Arg448Trp)	ZNF500 (R448W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3196206	NM_021646.4(ZNF500):c.1166G>A (p.Arg389His)	ZNF500 (R389H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3196205	NM_021646.4(ZNF500):c.1159G>A (p.Gly387Arg)	ZNF500 (G387R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3196204	NM_021646.4(ZNF500):c.1147T>C (p.Cys383Arg)	ZNF500 (C383R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3196203	NM_021646.4(ZNF500):c.1106G>C (p.Ser369Thr)	ZNF500 (S369T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3196202	NM_021646.4(ZNF500):c.1049A>G (p.Glu350Gly)	ZNF500 (E350G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3196201	NM_021646.4(ZNF500):c.1036A>G (p.Thr346Ala)	ZNF500 (T346A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3024595	GRCh37/hg19 16p13.3(chr16:2990033-4837646)x1	CORO7, CORO7-PAM16 +52 more	Copy number loss	not provided	GPathogenic
Select item 2684779	GRCh37/hg19 16p13.3(chr16:4462897-5172225)x3	ALG1, ANKS3 +22 more	Copy number gain	not provided	GUncertain significance
Select item 2595199	NM_021646.4(ZNF500):c.653C>G (p.Ala218Gly)	ZNF500 (A218G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2590101	NM_021646.4(ZNF500):c.523C>G (p.Arg175Gly)	ZNF500 (R175G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2589763	NM_021646.4(ZNF500):c.809C>T (p.Pro270Leu)	ZNF500 (P270L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2546452	NM_021646.4(ZNF500):c.1346G>A (p.Gly449Asp)	ZNF500 (G449D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2531801	NM_021646.4(ZNF500):c.412C>T (p.Arg138Trp)	ZNF500 (R138W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2527582	NM_021646.4(ZNF500):c.1373C>G (p.Thr458Ser)	ZNF500 (T458S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2522872	NM_021646.4(ZNF500):c.608C>T (p.Ala203Val)	ZNF500 (A203V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2519134	NM_021646.4(ZNF500):c.934C>G (p.Pro312Ala)	ZNF500 (P312A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2496495	NM_021646.4(ZNF500):c.1220G>T (p.Arg407Leu)	ZNF500 (R407L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2485713	NM_021646.4(ZNF500):c.254C>A (p.Thr85Asn)	ZNF500 (T85N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2471718	NM_021646.4(ZNF500):c.331C>T (p.Arg111Cys)	ZNF500 (R111C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2463907	NM_021646.4(ZNF500):c.656G>C (p.Trp219Ser)	ZNF500 (W219S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2425098	NC_000016.9:g.(?_3293141)_(5971108_?)dup	C16orf89, ADCY9 +45 more	Duplication	Rubinstein-Taybi syndrome	GUncertain significance
Select item 2425037	NC_000016.9:g.(?_256302)_(4852572_?)dup	TIGD7, TMEM204 +170 more	Duplication	Idiopathic generalized epilepsy +3 more	GUncertain significance
Select item 2407814	NM_021646.4(ZNF500):c.1348A>G (p.Thr450Ala)	ZNF500 (T450A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2405604	NM_021646.4(ZNF500):c.1352A>C (p.Asp451Ala)	ZNF500 (D451A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2402378	NM_021646.4(ZNF500):c.629C>T (p.Ala210Val)	ZNF500 (A210V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2395854	NM_021646.4(ZNF500):c.1166G>T (p.Arg389Leu)	ZNF500 (R389L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2391176	NM_021646.4(ZNF500):c.613C>T (p.Arg205Trp)	ZNF500 (R205W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2371640	NM_021646.4(ZNF500):c.1343G>A (p.Arg448Gln)	ZNF500 (R448Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2368177	NM_021646.4(ZNF500):c.115G>C (p.Val39Leu)	ZNF500 (V39L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2364619	NM_021646.4(ZNF500):c.605C>T (p.Pro202Leu)	ZNF500 (P202L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2342803	NM_021646.4(ZNF500):c.611C>T (p.Pro204Leu)	ZNF500 (P204L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2311450	NM_021646.4(ZNF500):c.635C>G (p.Ala212Gly)	ZNF500 (A212G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2311449	NM_021646.4(ZNF500):c.634G>T (p.Ala212Ser)	ZNF500 (A212S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2309673	NM_021646.4(ZNF500):c.1312A>G (p.Thr438Ala)	ZNF500 (T438A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2296304	NM_021646.4(ZNF500):c.490C>G (p.Gln164Glu)	ZNF500 (Q164E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2289106	NM_021646.4(ZNF500):c.787G>A (p.Gly263Ser)	ZNF500 (G263S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2262852	NM_021646.4(ZNF500):c.1331G>A (p.Arg444Gln)	ZNF500 (R444Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2245702	NM_021646.4(ZNF500):c.626T>C (p.Met209Thr)	ZNF500 (M209T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2238512	NM_021646.4(ZNF500):c.808C>T (p.Pro270Ser)	ZNF500 (P270S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2232023	NM_021646.4(ZNF500):c.1380G>C (p.Met460Ile)	ZNF500 (M460I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2221333	NM_021646.4(ZNF500):c.845G>A (p.Arg282Gln)	ZNF500 (R282Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2219212	NM_021646.4(ZNF500):c.998G>C (p.Gly333Ala)	ZNF500 (G333A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2215550	NM_021646.4(ZNF500):c.1005C>G (p.Ser335Arg)	ZNF500 (S335R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1807793	GRCh37/hg19 16p13.3-11.2(chr16:4380767-30445350)x3	ABAT, ABCC1 +226 more	Copy number gain	not provided	GPathogenic
Select item 1710928	GRCh37/hg19 16p13.3(chr16:111043-6627459)x3	ABCA3, ADCY9 +187 more	Copy number gain	See cases	GPathogenic
Select item 1526484	GRCh37/hg19 16p13.3(chr16:4541805-5813911)	SEPTIN12, SMIM22 +18 more	Copy number gain	not specified	GUncertain significance
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 831384	NC_000016.10:g.(?_3727698)_(4802591_?)dup	CORO7-PAM16, CREBBP +21 more	Duplication	Amelocerebrohypohidrotic syndrome	GUncertain significance
Select item 685643	GRCh37/hg19 16p13.3(chr16:3731117-5325699)x3	ADCY9, ALG1 +30 more	Copy number gain	not provided	GPathogenic
Select item 657383	NC_000016.10:g.(?_3727698)_(4802591_?)del	LOC130058360, LOC130058361 +66 more	Deletion	Rubinstein-Taybi syndrome	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	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 442872	GRCh37/hg19 16p13.3-12.3(chr16:85880-19806921)x3	PRSS27, PRSS33 +263 more	Copy number gain	See cases	GPathogenic
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	ABCC6, BCL7C +811 more	Copy number gain	See cases	GPathogenic
Select item 395287	GRCh37/hg19 16p13.3(chr16:4740929-4950995)x1	ANKS3, DNAAF8 +9 more	Copy number loss	See cases	GUncertain significance
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 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 155643	GRCh38/hg38 16p13.3-13.11(chr16:666662-15743104)x3	ABAT, ABCA3 +926 more	Copy number gain	See cases	GPathogenic
Select item 150284	GRCh38/hg38 16p13.3-13.12(chr16:43732-13326806)x3	EEF2KMT, ELOB +917 more	Copy number gain	See cases	GPathogenic
Select item 144327	GRCh38/hg38 16p13.3-11.2(chr16:4644892-29170820)x3	ABAT, ABCC1 +852 more	Copy number gain	See cases	GPathogenic
Select item 144298	GRCh38/hg38 16p13.3-13.13(chr16:46766-11525516)x3	ABAT, ABCA3 +843 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 58594	GRCh38/hg38 16p13.3-13.13(chr16:23141-11296695)x3	ABAT, ABCA3 +822 more	Copy number gain	See cases	GPathogenic
Select item 57415	GRCh38/hg38 16p13.3(chr16:4490463-4815780)x1	ANKS3, C16orf96 +30 more	Copy number loss	See cases	GUncertain significance

ClinVar

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Links from Gene

Items: 88