ClinVar for Gene (Select 126862798) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3065196	NM_017757.3(ZNF407):c.3442G>T (p.Val1148Leu)	LOC126862798, ZNF407 (V1148L)	Single nucleotide variant (missense variant)	Short stature, impaired intellectual development, microcephaly, hypotonia, and ocular anomalies	GUncertain significance
Select item 3036301	NM_017757.3(ZNF407):c.2619C>T (p.His873=)	LOC126862798, ZNF407	Single nucleotide variant (synonymous variant)	ZNF407-related condition	GLikely benign
Select item 2662473	NM_017757.3(ZNF407):c.3430G>A (p.Ala1144Thr)	LOC126862798, ZNF407 (A1144T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2623434	NM_017757.3(ZNF407):c.2933A>G (p.Asp978Gly)	LOC126862798, ZNF407 (D978G)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2602245	NM_017757.3(ZNF407):c.2717G>A (p.Arg906Gln)	LOC126862798, ZNF407 (R906Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2590400	NM_017757.3(ZNF407):c.2780G>A (p.Ser927Asn)	LOC126862798, ZNF407 (S927N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2561370	NM_017757.3(ZNF407):c.3549G>A (p.Met1183Ile)	LOC126862798, ZNF407 (M1183I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2546363	NM_017757.3(ZNF407):c.3292G>C (p.Glu1098Gln)	LOC126862798, ZNF407 (E1098Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2545433	NM_017757.3(ZNF407):c.2389A>C (p.Ile797Leu)	LOC126862798, ZNF407 (I797L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2504816	NM_017757.3(ZNF407):c.3427T>C (p.Cys1143Arg)	LOC126862798, ZNF407 (C1143R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2475448	NM_017757.3(ZNF407):c.2915A>G (p.Asn972Ser)	LOC126862798, ZNF407 (N972S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2333469	NM_017757.3(ZNF407):c.2877G>T (p.Lys959Asn)	LOC126862798, ZNF407 (K959N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2265760	NM_017757.3(ZNF407):c.3476A>G (p.Asn1159Ser)	LOC126862798, ZNF407 (N1159S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2243915	NM_017757.3(ZNF407):c.2752G>A (p.Asp918Asn)	LOC126862798, ZNF407 (D918N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2236025	NM_017757.3(ZNF407):c.3122C>A (p.Thr1041Lys)	LOC126862798, ZNF407 (T1041K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2049111	NM_017757.3(ZNF407):c.3010G>A (p.Asp1004Asn)	LOC126862798, ZNF407 (D1004N)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1804591	NM_017757.3(ZNF407):c.2761G>T (p.Val921Phe)	LOC126862798, ZNF407 (V921F)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1703234	Single allele	LINC01544, LINC01879 +430 more	Deletion	Deletion of long arm of chromosome 18	GPathogenic
Select item 1684631	Single allele	LINC01922, LINC01927 +279 more	Deletion	Nystagmus +10 more	GPathogenic
Select item 1336694	NM_017757.3(ZNF407):c.3050A>G (p.Asn1017Ser)	LOC126862798, ZNF407 (N1017S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1336071	NM_017757.3(ZNF407):c.2552C>T (p.Thr851Met)	LOC126862798, ZNF407 (T851M)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 795089	NM_017757.3(ZNF407):c.2997C>T (p.Phe999=)	LOC126862798, ZNF407	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 793406	NM_017757.3(ZNF407):c.3069G>A (p.Glu1023=)	LOC126862798, ZNF407	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 788811	NM_017757.3(ZNF407):c.3059T>G (p.Leu1020Trp)	LOC126862798, ZNF407 (L1020W)	Single nucleotide variant (missense variant)	ZNF407-related condition +1 more	GBenign
Select item 771506	NM_017757.3(ZNF407):c.3519C>G (p.Val1173=)	LOC126862798, ZNF407	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 756348	NM_017757.3(ZNF407):c.3438C>T (p.Asp1146=)	LOC126862798, ZNF407	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 738092	NM_017757.3(ZNF407):c.3036A>G (p.Thr1012=)	LOC126862798, ZNF407	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 734420	NM_017757.3(ZNF407):c.2418A>G (p.Gln806=)	LOC126862798, ZNF407	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 732308	NM_017757.3(ZNF407):c.2550G>A (p.Arg850=)	LOC126862798, ZNF407	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 724407	NM_017757.3(ZNF407):c.3150A>G (p.Ala1050=)	LOC126862798, ZNF407	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 723449	NM_017757.3(ZNF407):c.3013G>C (p.Val1005Leu)	LOC126862798, ZNF407 (V1005L)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 723049	NM_017757.3(ZNF407):c.3042A>G (p.Thr1014=)	LOC126862798, ZNF407	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 689354	NM_017757.3(ZNF407):c.2884C>G (p.Arg962Gly)	LOC126862798, ZNF407 (R962G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 689344	NM_017757.3(ZNF407):c.2425T>C (p.Ser809Pro)	LOC126862798, ZNF407 (S809P)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 545668	NM_017757.3(ZNF407):c.2814_2816dup (p.Val939dup)	LOC126862798, ZNF407	Duplication (inframe_insertion)	Short stature, impaired intellectual development, microcephaly, hypotonia, and ocular anomalies +1 more	GPathogenic
Select item 437375	NM_017757.3(ZNF407):c.2493T>A (p.Asp831Glu)	LOC126862798, ZNF407 (D831E)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 437363	NM_017757.3(ZNF407):c.3285T>C (p.Ile1095=)	LOC126862798, ZNF407	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 437362	NM_017757.3(ZNF407):c.3021C>T (p.Ser1007=)	LOC126862798, ZNF407	Single nucleotide variant (synonymous variant)	not specified	GUncertain significance
Select item 212665	NM_017757.3(ZNF407):c.3153C>T (p.Cys1051=)	LOC126862798, ZNF407	Single nucleotide variant (synonymous variant)	not specified	GUncertain significance
Select item 212664	NM_017757.3(ZNF407):c.3072T>G (p.Phe1024Leu)	LOC126862798, ZNF407 (F1024L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 212663	NM_017757.3(ZNF407):c.2903C>T (p.Ala968Val)	LOC126862798, ZNF407 (A968V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 212662	NM_017757.3(ZNF407):c.2822T>C (p.Met941Thr)	LOC126862798, ZNF407 (M941T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 212661	NM_017757.3(ZNF407):c.2775G>T (p.Gly925=)	LOC126862798, ZNF407	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 160810	GRCh38/hg38 18p11.32-q23(chr18:148963-80252149)x3	LOC130062321, LOC130062322 +1643 more	Copy number gain	See cases	GPathogenic
Select item 155490	GRCh38/hg38 18q22.1-23(chr18:68857904-80256240)x1	ADNP2, ATP9B +282 more	Copy number loss	See cases	GPathogenic
Select item 155151	GRCh38/hg38 18p11.32-q23(chr18:136226-80256240)x3	LOC121852961, LOC121852962 +1643 more	Copy number gain	See cases	GPathogenic
Select item 155129	GRCh38/hg38 18q22.3-23(chr18:72639340-80254946)x1	ADNP2, ATP9B +238 more	Copy number loss	See cases	GPathogenic
Select item 154990	GRCh38/hg38 18q11.1-22.3(chr18:20962119-74691446)x3	LOC130062514, LOC130062515 +1089 more	Copy number gain	See cases	GPathogenic
Select item 154622	GRCh38/hg38 18q22.1-23(chr18:67686362-80252149)x3	LOC130062762, LOC130062763 +292 more	Copy number gain	See cases	GPathogenic
Select item 154106	GRCh38/hg38 18p11.32-q23(chr18:136227-80256240)x3	LOC130062369, LOC130062370 +1643 more	Copy number gain	See cases	GPathogenic
Select item 154074	GRCh38/hg38 18q12.3-23(chr18:40367455-80256240)x3	ACAA2, ADNP2 +887 more	Copy number gain	See cases	GPathogenic
Select item 154000	GRCh38/hg38 18q22.1-23(chr18:66456349-80256240)x1	ADNP2, ATP9B +297 more	Copy number loss	See cases	GPathogenic
Select item 152928	GRCh38/hg38 18q21.33-23(chr18:61613338-80252090)x1	ADNP2, ATP9B +429 more	Copy number loss	See cases	GPathogenic
Select item 152372	GRCh38/hg38 18q21.2-23(chr18:51167159-80256240)x1	ADNP2, ALPK2 +664 more	Copy number loss	See cases	GPathogenic
Select item 152338	GRCh38/hg38 18q22.1-23(chr18:68340002-80256240)x1	ADNP2, ATP9B +288 more	Copy number loss	See cases	GPathogenic
Select item 150873	GRCh38/hg38 18q21.32-23(chr18:59996934-80254946)x1	LOC126862775, LOC126862776 +436 more	Copy number loss	See cases	GPathogenic
Select item 150674	GRCh38/hg38 18q21.2-23(chr18:53959828-80254936)x3	LOC130062739, LOC130062740 +636 more	Copy number gain	See cases	GPathogenic
Select item 150640	GRCh38/hg38 18q21.33-23(chr18:63756916-80254946)x1	ADNP2, ATP9B +320 more	Copy number loss	See cases	GPathogenic
Select item 150633	GRCh38/hg38 18q22.3-23(chr18:71872883-80254946)x3	ADNP2, ATP9B +241 more	Copy number gain	See cases	GPathogenic
Select item 150559	GRCh38/hg38 18p11.32-q23(chr18:149089-80254936)x3	CDH7, CELF4 +1643 more	Copy number gain	See cases	GPathogenic
Select item 150250	GRCh38/hg38 18q21.2-23(chr18:52421052-80254946)x1	ADNP2, ALPK2 +644 more	Copy number loss	See cases	GPathogenic
Select item 149757	GRCh38/hg38 18q22.3-23(chr18:73332839-80254946)x1	ADNP2, ATP9B +230 more	Copy number loss	See cases	GPathogenic
Select item 149756	GRCh38/hg38 18q22.3-23(chr18:73332839-80254946)x3	ADNP2, ATP9B +230 more	Copy number gain	See cases	GPathogenic
Select item 149742	GRCh38/hg38 18q22.1-23(chr18:64747728-80254946)x1	ADNP2, ATP9B +302 more	Copy number loss	See cases	GPathogenic
Select item 149674	GRCh38/hg38 18p11.32-q23(chr18:118760-80254946)x3	LOC105372069, LOC105372071 +1643 more	Copy number gain	See cases	GPathogenic
Select item 149650	GRCh38/hg38 18q22.1-23(chr18:66649227-80254936)x1	ADNP2, ATP9B +296 more	Copy number loss	See cases	GPathogenic
Select item 149476	GRCh38/hg38 18q22.3-23(chr18:72043906-80254936)x1	ADNP2, ATP9B +240 more	Copy number loss	See cases	GPathogenic
Select item 149195	GRCh38/hg38 18q22.2-23(chr18:69650802-80254946)x1	ADNP2, ATP9B +278 more	Copy number loss	See cases	GPathogenic
Select item 148972	GRCh38/hg38 18q12.3-23(chr18:42651392-80254946)x3	LOC130062712, LOC130062713 +879 more	Copy number gain	See cases	GPathogenic
Select item 148742	GRCh38/hg38 18q22.1-23(chr18:66190016-80254946)x1	ADNP2, ATP9B +297 more	Copy number loss	See cases	GPathogenic
Select item 148524	GRCh38/hg38 18q22.1-23(chr18:65658824-80254946)x1	ADNP2, ATP9B +300 more	Copy number loss	See cases	GPathogenic
Select item 148357	GRCh38/hg38 18q22.1-23(chr18:68830234-80254946)x1	SALL3, SLC66A2 +282 more	Copy number loss	See cases	GPathogenic
Select item 148304	GRCh38/hg38 18q22.1-23(chr18:68563422-80254946)x1	LOC132211114, LOC284240 +287 more	Copy number loss	See cases	GPathogenic
Select item 148300	GRCh38/hg38 18q21.2-23(chr18:55179364-80254946)x1	LOC130062684, LOC130062685 +602 more	Copy number loss	See cases	GPathogenic
Select item 148267	GRCh38/hg38 18q21.1-23(chr18:49199411-80254946)x3	ACAA2, ADNP2 +733 more	Copy number gain	See cases	GPathogenic
Select item 147763	GRCh38/hg38 18q22.1-23(chr18:65693588-80252149)x1	LOC126862801, LOC126862802 +299 more	Copy number loss	See cases	GPathogenic
Select item 147738	GRCh38/hg38 18q12.1-23(chr18:32123105-80252149)x3	LINC01902, LINC01903 +1005 more	Copy number gain	See cases	GPathogenic
Select item 147495	GRCh38/hg38 18q21.2-23(chr18:53865057-80252149)x1	LOC114803473, LOC116276491 +636 more	Copy number loss	See cases	GPathogenic
Select item 147355	GRCh38/hg38 18q22.1-23(chr18:67772576-80252149)x1	ADNP2, ATP9B +291 more	Copy number loss	See cases	GPathogenic
Select item 146891	GRCh38/hg38 18q22.1-23(chr18:68417596-80252149)x1	LOC130062800, LOC130062801 +288 more	Copy number loss	See cases	GPathogenic
Select item 146881	GRCh38/hg38 18q22.3(chr18:74416892-74651188)x3	LOC130062716, LOC130062717 +14 more	Copy number gain	See cases	GLikely benign
Select item 146574	GRCh38/hg38 18q21.33-23(chr18:63306200-80252149)x1	ADNP2, ATP9B +347 more	Copy number loss	See cases	GPathogenic
Select item 146547	GRCh38/hg38 18q22.3-23(chr18:71067804-80252149)x1	LOC130062708, LOC130062709 +248 more	Copy number loss	See cases	GPathogenic
Select item 146311	GRCh38/hg38 18q21.33-23(chr18:61576009-80252149)x1	LOC126862797, LOC126862798 +430 more	Copy number loss	See cases	GPathogenic
Select item 146258	GRCh38/hg38 18q21.33-23(chr18:61827111-80252149)x1	LOC130062747, LOC130062748 +426 more	Copy number loss	See cases	GPathogenic
Select item 146226	GRCh38/hg38 18q22.3-23(chr18:72426712-80252149)x1	ADNP2, ATP9B +240 more	Copy number loss	See cases	GPathogenic
Select item 146087	GRCh38/hg38 18q21.2-23(chr18:51190429-80252149)x1	LOC130062692, LOC130062693 +664 more	Copy number loss	See cases	GPathogenic
Select item 144654	GRCh38/hg38 18p11.32-q23(chr18:149089-80234391)x3	LOC130062768, LOC130062769 +1642 more	Copy number gain	See cases	GPathogenic
Select item 144342	GRCh38/hg38 18q22.2-23(chr18:69200589-80252149)x1	LOC130062790, LOC130062791 +279 more	Copy number loss	See cases	GPathogenic
Select item 144207	GRCh38/hg38 18q21.32-23(chr18:59567681-80252149)x1	LOC126862772, LOC126862773 +450 more	Copy number loss	See cases	GPathogenic
Select item 130820	NM_017757.3(ZNF407):c.3075T>C (p.Ser1025=)	LOC126862798, ZNF407	Single nucleotide variant (synonymous variant)	ZNF407-related condition +1 more	GBenign
Select item 130819	NM_017757.3(ZNF407):c.2915A>C (p.Asn972Thr)	LOC126862798, ZNF407 (N972T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 60034	GRCh38/hg38 18q22.3-23(chr18:74207209-79351148)x1	ATP9B, C18orf63 +149 more	Copy number loss	See cases	GPathogenic
Select item 60033	GRCh38/hg38 18q22.2-23(chr18:69288245-80252149)x1	SALL3, SLC66A2 +279 more	Copy number loss	See cases	GPathogenic
Select item 60004	GRCh38/hg38 18q22.1-23(chr18:63988650-80252149)x1	LOC130062705, LOC130062706 +308 more	Copy number loss	See cases	GPathogenic
Select item 60003	GRCh38/hg38 18q21.33-23(chr18:62999696-80209986)x1	KCNG2, KDSR +373 more	Copy number loss	See cases	GPathogenic
Select item 60001	GRCh38/hg38 18q21.31-23(chr18:56353040-80209986)x1	ADNP2, ALPK2 +572 more	Copy number loss	See cases	GPathogenic
Select item 58784	GRCh38/hg38 18q21.33-23(chr18:63195579-80234429)x3	ADNP2, ATP9B +348 more	Copy number gain	See cases	GPathogenic
Select item 58762	GRCh38/hg38 18q11.1-23(chr18:20989762-80209986)x3	ABHD3, ACAA2 +1266 more	Copy number gain	See cases	GPathogenic
Select item 58756	GRCh38/hg38 18q11.1-23(chr18:20960320-80234429)x3	LOC130062608, LOC130062609 +1266 more	Copy number gain	See cases	GPathogenic

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