NFATC1[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58718	GRCh38/hg38 18p11.32-q23(chr18:53345-80209986)x3	LOC126862722, LOC126862723 +1646 more	Copy number gain	See cases	GPathogenic
Select item 149674	GRCh38/hg38 18p11.32-q23(chr18:118760-80254946)x3	LINC00683, LINC00907 +1643 more	Copy number gain	See cases	GPathogenic
Select item 155151	GRCh38/hg38 18p11.32-q23(chr18:136226-80256240)x3	DTNA, DYM +1643 more	Copy number gain	See cases	GPathogenic
Select item 154106	GRCh38/hg38 18p11.32-q23(chr18:136227-80256240)x3	LINC01478, LINC01538 +1643 more	Copy number gain	See cases	GPathogenic
Select item 160810	GRCh38/hg38 18p11.32-q23(chr18:148963-80252149)x3	LOC130062393, LOC130062394 +1643 more	Copy number gain	See cases	GPathogenic
Select item 58729	GRCh38/hg38 18p11.32-q23(chr18:148963-80244381)x3	RNF138, RNF152 +1642 more	Copy number gain	See cases	GPathogenic
Select item 33085	GRCh38/hg38 18p11.32-q23(chr18:148963-80252149)x3	ABHD3, ACAA2 +1643 more	Copy number gain	See cases	GPathogenic
Select item 150559	GRCh38/hg38 18p11.32-q23(chr18:149089-80254936)x3	LOC130062575, LOC130062576 +1643 more	Copy number gain	See cases	GPathogenic
Select item 144654	GRCh38/hg38 18p11.32-q23(chr18:149089-80234391)x3	ABHD3, ACAA2 +1642 more	Copy number gain	See cases	GPathogenic
Select item 58756	GRCh38/hg38 18q11.1-23(chr18:20960320-80234429)x3	ABHD3, ACAA2 +1266 more	Copy number gain	See cases	GPathogenic
Select item 58762	GRCh38/hg38 18q11.1-23(chr18:20989762-80209986)x3	LOC130062446, LOC130062447 +1266 more	Copy number gain	See cases	GPathogenic
Select item 147738	GRCh38/hg38 18q12.1-23(chr18:32123105-80252149)x3	ACAA2, ADNP2 +1005 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 148972	GRCh38/hg38 18q12.3-23(chr18:42651392-80254946)x3	LOC125371434, LOC125371435 +879 more	Copy number gain	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 57310	GRCh38/hg38 18q21.1-23(chr18:50068129-80252149)x3	ADNP2, ALPK2 +706 more	Copy number gain	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 146087	GRCh38/hg38 18q21.2-23(chr18:51190429-80252149)x1	ADNP2, ALPK2 +664 more	Copy number loss	See cases	GPathogenic
Select item 150250	GRCh38/hg38 18q21.2-23(chr18:52421052-80254946)x1	LOC130062755, LOC130062756 +644 more	Copy number loss	See cases	GPathogenic
Select item 147495	GRCh38/hg38 18q21.2-23(chr18:53865057-80252149)x1	LOC130062777, LOC130062778 +636 more	Copy number loss	See cases	GPathogenic
Select item 150674	GRCh38/hg38 18q21.2-23(chr18:53959828-80254936)x3	LOC130062712, LOC130062713 +636 more	Copy number gain	See cases	GPathogenic
Select item 148300	GRCh38/hg38 18q21.2-23(chr18:55179364-80254946)x1	LOC110121390, LOC111365201 +602 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 57345	GRCh38/hg38 18q21.31-23(chr18:56618038-80252149)x1	ADNP2, ALPK2 +573 more	Copy number loss	See cases	GPathogenic
Select item 144207	GRCh38/hg38 18q21.32-23(chr18:59567681-80252149)x1	ADNP2, ATP9B +450 more	Copy number loss	See cases	GPathogenic
Select item 150873	GRCh38/hg38 18q21.32-23(chr18:59996934-80254946)x1	ADNP2, ATP9B +436 more	Copy number loss	See cases	GPathogenic
Select item 1703234	Single allele	LINC01544, LINC01879 +430 more	Deletion	Deletion of long arm of chromosome 18	GPathogenic
Select item 146311	GRCh38/hg38 18q21.33-23(chr18:61576009-80252149)x1	TSHZ1, TXNL4A +430 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 146258	GRCh38/hg38 18q21.33-23(chr18:61827111-80252149)x1	ADNP2, ATP9B +426 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 58784	GRCh38/hg38 18q21.33-23(chr18:63195579-80234429)x3	ADNP2, ATP9B +348 more	Copy number gain	See cases	GPathogenic
Select item 146574	GRCh38/hg38 18q21.33-23(chr18:63306200-80252149)x1	LOC110121330, LOC112543432 +347 more	Copy number loss	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 60004	GRCh38/hg38 18q22.1-23(chr18:63988650-80252149)x1	ADNP2, ATP9B +308 more	Copy number loss	See cases	GPathogenic
Select item 149742	GRCh38/hg38 18q22.1-23(chr18:64747728-80254946)x1	LOC130062769, LOC130062770 +302 more	Copy number loss	See cases	GPathogenic
Select item 57306	GRCh38/hg38 18q22.1-23(chr18:64950938-80252149)x1	ADNP2, ATP9B +302 more	Copy number loss	See cases	GPathogenic
Select item 148524	GRCh38/hg38 18q22.1-23(chr18:65658824-80254946)x1	LOC132090901, LOC132211114 +300 more	Copy number loss	See cases	GPathogenic
Select item 147763	GRCh38/hg38 18q22.1-23(chr18:65693588-80252149)x1	LOC126862830, LOC126862831 +299 more	Copy number loss	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 154000	GRCh38/hg38 18q22.1-23(chr18:66456349-80256240)x1	ADNP2, ATP9B +297 more	Copy number loss	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 154622	GRCh38/hg38 18q22.1-23(chr18:67686362-80252149)x3	ADNP2, ATP9B +292 more	Copy number gain	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 152338	GRCh38/hg38 18q22.1-23(chr18:68340002-80256240)x1	ADNP2, ATP9B +288 more	Copy number loss	See cases	GPathogenic
Select item 146891	GRCh38/hg38 18q22.1-23(chr18:68417596-80252149)x1	LOC130062763, LOC130062764 +288 more	Copy number loss	See cases	GPathogenic
Select item 148304	GRCh38/hg38 18q22.1-23(chr18:68563422-80254946)x1	ADNP2, ATP9B +287 more	Copy number loss	See cases	GPathogenic
Select item 148357	GRCh38/hg38 18q22.1-23(chr18:68830234-80254946)x1	ADNP2, ATP9B +282 more	Copy number loss	See cases	GPathogenic
Select item 155490	GRCh38/hg38 18q22.1-23(chr18:68857904-80256240)x1	LOC130062726, LOC130062727 +282 more	Copy number loss	See cases	GPathogenic
Select item 144342	GRCh38/hg38 18q22.2-23(chr18:69200589-80252149)x1	ADNP2, ATP9B +279 more	Copy number loss	See cases	GPathogenic
Select item 60033	GRCh38/hg38 18q22.2-23(chr18:69288245-80252149)x1	ADNP2, ATP9B +279 more	Copy number loss	See cases	GPathogenic
Select item 1684631	Single allele	LINC01922, LINC01927 +279 more	Deletion	Nystagmus +10 more	GPathogenic
Select item 149195	GRCh38/hg38 18q22.2-23(chr18:69650802-80254946)x1	LOC132090511, LOC132090512 +278 more	Copy number loss	See cases	GPathogenic
Select item 146547	GRCh38/hg38 18q22.3-23(chr18:71067804-80252149)x1	ADNP2, ATP9B +248 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 149476	GRCh38/hg38 18q22.3-23(chr18:72043906-80254936)x1	ADNP2, ATP9B +240 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 155129	GRCh38/hg38 18q22.3-23(chr18:72639340-80254946)x1	LOC130062739, LOC130062740 +238 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	LOC126862797, LOC126862798 +230 more	Copy number gain	See cases	GPathogenic
Select item 147608	GRCh38/hg38 18q23(chr18:75424051-80224243)x1	LOC130062797, LOC130062798 +160 more	Copy number loss	See cases	GPathogenic
Select item 60035	GRCh38/hg38 18q23(chr18:75843868-80209986)x1	ADNP2, ATP9B +154 more	Copy number loss	See cases	GPathogenic
Select item 152854	GRCh38/hg38 18q23(chr18:75875505-80252090)x1	ADNP2, ATP9B +155 more	Copy number loss	See cases	GPathogenic
Select item 154303	GRCh38/hg38 18q23(chr18:75946906-80252149)x1	ADNP2, ATP9B +155 more	Copy number loss	See cases	GPathogenic
Select item 147749	GRCh38/hg38 18q23(chr18:75988877-80252149)x1	ADNP2, ATP9B +155 more	Copy number loss	See cases	GPathogenic
Select item 154513	GRCh38/hg38 18q23(chr18:76635470-80252149)x1	ADNP2, ATP9B +130 more	Copy number loss	See cases	GPathogenic
Select item 153882	GRCh38/hg38 18q23(chr18:77261157-79635779)x3	ATP9B, GALR1 +57 more	Copy number gain	See cases	GUncertain significance
Select item 144196	GRCh38/hg38 18q23(chr18:77263709-80252149)x1	ADNP2, ATP9B +96 more	Copy number loss	See cases	GPathogenic
Select item 149091	GRCh38/hg38 18q23(chr18:78507911-80254946)x1	ADNP2, ATP9B +79 more	Copy number loss	See cases	GUncertain significance
Select item 60036	GRCh38/hg38 18q23(chr18:78869005-80252149)x1	ADNP2, ATP9B +72 more	Copy number loss	See cases	GPathogenic
Select item 60037	GRCh38/hg38 18q23(chr18:78892487-80209986)x1	ADNP2, ATP9B +71 more	Copy number loss	See cases	GPathogenic
Select item 3044671	NM_001278669.2(NFATC1):c.-16CGC[5]	NFATC1	Microsatellite (5 prime UTR variant)	NFATC1-related disorder	GBenign
Select item 2364786	NM_001278669.2(NFATC1):c.37C>G (p.Pro13Ala)	NFATC1 (P13A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2740231	NM_001278669.2(NFATC1):c.51G>A (p.Ala17=)	NFATC1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3023049	NM_001278669.2(NFATC1):c.89C>T (p.Ala30Val)	NFATC1 (A30V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2648826	NM_001278669.2(NFATC1):c.102C>T (p.Gly34=)	NFATC1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2169013	NM_001278669.2(NFATC1):c.104_105delinsAT (p.Gly35Asp)	NFATC1 (G35D)	Indel (missense variant +1 more)	not provided	GUncertain significance
Select item 712224	NM_001278669.2(NFATC1):c.104G>A (p.Gly35Asp)	NFATC1 (G35D)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 712225	NM_001278669.2(NFATC1):c.105C>T (p.Gly35=)	NFATC1	Single nucleotide variant (synonymous variant +1 more)	NFATC1-related disorder +1 more	GBenign
Select item 2284346	NM_001278669.2(NFATC1):c.110T>C (p.Met37Thr)	NFATC1 (M37T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1629614	NM_001278669.2(NFATC1):c.127+13C>T	NFATC1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1932909	NM_001278669.2(NFATC1):c.127+19C>G	NFATC1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3053678	NM_001278669.2(NFATC1):c.127+4036_127+4040dup	LOC130062776, NFATC1 (M1fs)	Duplication (frameshift variant +2 more)	NFATC1-related disorder	GBenign
Select item 2385984	NM_001278669.2(NFATC1):c.127+4048G>A	LOC130062776, NFATC1 (G3E)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2465046	NM_001278669.2(NFATC1):c.127+4056G>A	LOC130062776, NFATC1 (D6N)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2357911	NM_001278669.2(NFATC1):c.127+4077T>A	LOC130062776, NFATC1 (F13I)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3055115	NM_001278669.2(NFATC1):c.127+4098_127+4106del	LOC130062776, NFATC1	Deletion (inframe deletion +2 more)	NFATC1-related disorder	GUncertain significance
Select item 3023327	NM_001278669.2(NFATC1):c.128-15T>G	NFATC1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1897336	NM_001278669.2(NFATC1):c.128-12T>A	NFATC1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2204751	NM_001278669.2(NFATC1):c.149C>T (p.Ser50Phe)	NFATC1 (S50F +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2868268	NM_001278669.2(NFATC1):c.153C>A (p.Asn51Lys)	NFATC1 (N38K +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 789237	NM_001278669.2(NFATC1):c.153C>T (p.Asn51=)	NFATC1	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign
Select item 2882644	NM_001278669.2(NFATC1):c.162C>T (p.Pro54=)	NFATC1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2239185	NM_001278669.2(NFATC1):c.163G>T (p.Ala55Ser)	NFATC1 (A42S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1532057	NM_001278669.2(NFATC1):c.171G>A (p.Pro57=)	NFATC1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2053267	NM_001278669.2(NFATC1):c.179C>T (p.Thr60Met)	NFATC1 (T47M +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1573611	NM_001278669.2(NFATC1):c.183G>A (p.Ala61=)	NFATC1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2648827	NM_001278669.2(NFATC1):c.186C>G (p.His62Gln)	NFATC1 (H49Q +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3196287	NM_001278669.2(NFATC1):c.194T>G (p.Leu65Arg)	NFATC1 (L65R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2966280	NM_001278669.2(NFATC1):c.195G>C (p.Leu65=)	NFATC1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign

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