ClinVar for Gene (Select 4776) - ClinVar

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Links from Gene

Items: 81

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3299506	NM_004554.5(NFATC4):c.73C>A (p.Pro25Thr)	NFATC4 (P25T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3299505	NM_004554.5(NFATC4):c.2401C>G (p.Leu801Val)	NFATC4 (L789V +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3299504	NM_004554.5(NFATC4):c.439C>G (p.Pro147Ala)	NFATC4 (P135A +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3299503	NM_004554.5(NFATC4):c.2032A>G (p.Thr678Ala)	NFATC4 (T608A +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3299502	NM_004554.5(NFATC4):c.2354G>A (p.Arg785His)	NFATC4 (R773H +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3197046	NM_004554.5(NFATC4):c.941C>T (p.Pro314Leu)	NFATC4 (P244L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3197041	NM_004554.5(NFATC4):c.941C>G (p.Pro314Arg)	NFATC4 (P244R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3197012	NM_004554.5(NFATC4):c.487G>T (p.Gly163Trp)	NFATC4 (G93W +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3197006	NM_004554.5(NFATC4):c.458G>C (p.Gly153Ala)	NFATC4 (G153A +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3196944	NM_004554.5(NFATC4):c.2186A>G (p.Asp729Gly)	NFATC4 (D792G +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3196937	NM_004554.5(NFATC4):c.2179C>T (p.His727Tyr)	NFATC4 (H715Y +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3196934	NM_004554.5(NFATC4):c.211A>G (p.Met71Val)	NFATC4 (M134V +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3196928	NM_004554.5(NFATC4):c.2095C>T (p.Arg699Trp)	NFATC4 (R687W +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3196891	NM_004554.5(NFATC4):c.1245G>C (p.Glu415Asp)	NFATC4 (E403D +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3196885	NM_004554.5(NFATC4):c.1035G>C (p.Glu345Asp)	NFATC4 (E333D +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2685479	GRCh37/hg19 14q11.2-12(chr14:24445622-28262222)x1	RIPK3, RNF31 +41 more	Copy number loss	not provided	GLikely pathogenic
Select item 2684714	GRCh37/hg19 14q11.2-23.1(chr14:20511673-61826023)x3	ABHD12B, ABHD4 +289 more	Copy number gain	not provided	GPathogenic
Select item 2607453	NM_004554.5(NFATC4):c.1830C>A (p.Asn610Lys)	NFATC4 (N540K +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2599124	NM_004554.5(NFATC4):c.244C>T (p.Pro82Ser)	NFATC4 (P145S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2570334	NM_004554.5(NFATC4):c.2420C>T (p.Pro807Leu)	NFATC4 (P807L +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2557446	NM_004554.5(NFATC4):c.2192C>T (p.Ala731Val)	NFATC4 (A731V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2555851	NM_004554.5(NFATC4):c.134G>T (p.Arg45Leu)	NFATC4 (R45L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2554487	NM_004554.5(NFATC4):c.715G>A (p.Gly239Arg)	NFATC4 (G169R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2552749	NM_004554.5(NFATC4):c.1263C>G (p.Ile421Met)	NFATC4 (I351M +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2533091	NM_004554.5(NFATC4):c.2660G>A (p.Arg887Gln)	NFATC4 (R779Q +6 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2524516	NM_004554.5(NFATC4):c.2333C>A (p.Pro778His)	NFATC4 (P766H +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2493819	NM_004554.5(NFATC4):c.1289G>A (p.Arg430Gln)	NFATC4 (R360Q +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2492244	NM_004554.5(NFATC4):c.73C>G (p.Pro25Ala)	NFATC4 (P25A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2468650	NM_004554.5(NFATC4):c.374C>T (p.Pro125Leu)	NFATC4 (P125L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2466700	NM_004554.5(NFATC4):c.2288G>A (p.Arg763Gln)	NFATC4 (R693Q +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2423736	NC_000014.8:g.(?_23242819)_(25103366_?)dup	MRPL52, MYH6 +77 more	Duplication	Lysinuric protein intolerance +1 more	GUncertain significance
Select item 2408017	NM_004554.5(NFATC4):c.1622C>T (p.Thr541Met)	NFATC4 (T529M +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2401943	NM_004554.5(NFATC4):c.1816C>A (p.Leu606Met)	NFATC4 (L606M +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2399034	NM_004554.5(NFATC4):c.379C>A (p.Pro127Thr)	NFATC4 (P115T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2391057	NM_004554.5(NFATC4):c.779C>T (p.Pro260Leu)	NFATC4 (P260L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2387726	NM_004554.5(NFATC4):c.172C>A (p.Pro58Thr)	NFATC4 (P46T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2369125	NM_004554.5(NFATC4):c.1481C>T (p.Thr494Met)	NFATC4 (T557M +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2359675	NM_004554.5(NFATC4):c.77T>G (p.Leu26Arg)	NFATC4 (L26R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2350237	NM_004554.5(NFATC4):c.1859T>C (p.Ile620Thr)	NFATC4 (I608T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2348452	NM_004554.5(NFATC4):c.1351G>A (p.Val451Ile)	NFATC4 (V439I +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2348045	NM_004554.5(NFATC4):c.334G>C (p.Glu112Gln)	NFATC4 (E175Q +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2339687	NM_004554.5(NFATC4):c.2356C>G (p.Pro786Ala)	NFATC4 (P774A +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2332678	NM_004554.5(NFATC4):c.892C>T (p.Pro298Ser)	NFATC4 (P298S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2327580	NM_004554.5(NFATC4):c.965C>T (p.Pro322Leu)	NFATC4 (P252L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2326784	NM_004554.5(NFATC4):c.779C>A (p.Pro260Gln)	NFATC4 (P190Q +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2326386	NM_004554.5(NFATC4):c.1168C>T (p.Arg390Trp)	NFATC4 (R453W +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2325294	NM_004554.5(NFATC4):c.514G>T (p.Gly172Cys)	NFATC4 (G102C +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2314416	NM_004554.5(NFATC4):c.2464C>T (p.Leu822Phe)	NFATC4 (L885F +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2305900	NM_004554.5(NFATC4):c.418G>T (p.Asp140Tyr)	NFATC4 (D203Y +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2283858	NM_004554.5(NFATC4):c.134G>A (p.Arg45His)	NFATC4 (R45H +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2267239	NM_004554.5(NFATC4):c.331C>T (p.Leu111Phe)	NFATC4 (L111F +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2259337	NM_004554.5(NFATC4):c.1171A>G (p.Ile391Val)	NFATC4 (I379V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2244294	NM_004554.5(NFATC4):c.2228A>C (p.Tyr743Ser)	NFATC4 (Y673S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2237582	NM_004554.5(NFATC4):c.1387A>G (p.Thr463Ala)	NFATC4 (T463A +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2229092	NM_004554.5(NFATC4):c.2537G>T (p.Gly846Val)	NFATC4 (G776V +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2224166	NM_004554.5(NFATC4):c.83C>G (p.Ala28Gly)	NFATC4 (A28G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2222243	NM_004554.5(NFATC4):c.2361C>A (p.Phe787Leu)	NFATC4 (F787L +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2219319	NM_004554.5(NFATC4):c.77T>C (p.Leu26Pro)	NFATC4 (L26P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2213151	NM_004554.5(NFATC4):c.2365A>C (p.Ser789Arg)	NFATC4 (S852R +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2208789	NM_004554.5(NFATC4):c.268G>T (p.Ala90Ser)	NFATC4 (A153S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1703540	GRCh37/hg19 14q11.2-21.3(chr14:20511672-47481203)	ABHD4, ACIN1 +197 more	Copy number gain	Seizure	GPathogenic
Select item 1676204	NC_000014.8:g.(21162263_36986276)_(36987308_50713602)del	DHRS1, NYNRIN +190 more	Deletion	Brain-lung-thyroid syndrome	GPathogenic
Select item 973024	GRCh37/hg19 14q11.2-21.1(chr14:20511672-42881888)x3	AKAP6, MDP1 +187 more	Copy number gain	not provided	Gnot provided
Select item 815628	GRCh37/hg19 14q11.2-21.2(chr14:20511672-44829030)x3	ABHD4, ACIN1 +187 more	Copy number gain	not provided	GPathogenic
Select item 778738	NM_004554.5(NFATC4):c.324C>T (p.Gly108=)	NFATC4	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 749703	NM_004554.5(NFATC4):c.336G>A (p.Glu112=)	NFATC4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 625814	GRCh37/hg19 14q11.2-12(chr14:19100682-28730087)	ARHGEF40, BCL2L2 +152 more	Copy number gain	not provided	GPathogenic
Select item 443977	GRCh37/hg19 14q11.2-32.33(chr14:20511673-107285437)	GTF2A1, GZMB +624 more	Copy number gain	See cases	GPathogenic
Select item 442398	GRCh37/hg19 14q11.2-12(chr14:24233721-31377083)x1	ADCY4, CARMIL3 +48 more	Copy number loss	See cases	GPathogenic
Select item 395470	GRCh37/hg19 14q11.2-32.33(chr14:19794561-107234280)x3	ABCD4, ABHD12B +635 more	Copy number gain	See cases	GPathogenic
Select item 394361	GRCh37/hg19 14q11.2-13.1(chr14:19794561-34049214)x3	OR5AU1, OR6S1 +164 more	Copy number gain	See cases	GPathogenic
Select item 253659	GRCh37/hg19 14q11.2-12(chr14:19794561-27768254)x3	ABHD4, ACIN1 +149 more	Copy number gain	See cases	GPathogenic
Select item 155681	GRCh38/hg38 14q11.2-21.3(chr14:20043513-48642042)x3	OR10G2, OR10G3 +859 more	Copy number gain	See cases	GPathogenic
Select item 155306	GRCh38/hg38 14q11.2-32.33(chr14:20043514-106877229)x3	LOC126862060, LOC126862061 +3282 more	Copy number gain	See cases	GPathogenic
Select item 155119	GRCh38/hg38 14q11.2-21.2(chr14:20022693-44093672)x3	ABHD4, ACIN1 +814 more	Copy number gain	See cases	GPathogenic
Select item 154806	GRCh38/hg38 14q11.2-12(chr14:23984065-25374494)x1	ADCY4, CARMIL3 +122 more	Copy number loss	See cases	GPathogenic
Select item 148657	GRCh38/hg38 14q11.2-12(chr14:20412587-25018120)x3	LOC124958010, LOC124958011 +529 more	Copy number gain	See cases	GLikely pathogenic
Select item 146230	GRCh38/hg38 14q11.2-32.33(chr14:20151149-106855263)x3	LOC125048449, LOC125048450 +3277 more	Copy number gain	See cases	GPathogenic
Select item 59932	GRCh38/hg38 14q11.2-21.1(chr14:20000611-38984415)x3	LOC130055392, LOC130055393 +780 more	Copy number gain	See cases	GPathogenic
Select item 57750	GRCh38/hg38 14q11.2-21.1(chr14:23548960-41983402)x1	MIR4503, MIR624 +399 more	Copy number loss	See cases	GPathogenic
Select item 57745	GRCh38/hg38 14q11.2-21.2(chr14:20196945-45284802)x1	LOC112214170, LOC112214171 +840 more	Copy number loss	See cases	GPathogenic

ClinVar

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Germline classification

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Links from Gene

Items: 81