556[HGNC] - ClinVar

Search results

Items: 81

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 155119	GRCh38/hg38 14q11.2-21.2(chr14:20022693-44093672)x3	ABHD4, ACIN1 +814 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	LOC125048431, LOC125048432 +3280 more	Copy number gain	See cases	GPathogenic
Select item 146230	GRCh38/hg38 14q11.2-32.33(chr14:20151149-106855263)x3	FSCB, FUT8 +3275 more	Copy number gain	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
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 58306	GRCh38/hg38 14q11.2(chr14:23260803-23763521)x3	AP1G2, AP1G2-AS1 +45 more	Copy number gain	See cases	GUncertain significance
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 2211045	NM_003917.5(AP1G2):c.2329A>C (p.Asn777His)	AP1G2, THTPA (N705H +3 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3127455	NM_003917.5(AP1G2):c.2294A>G (p.His765Arg)	AP1G2, THTPA (H384R +3 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2370198	NM_003917.5(AP1G2):c.2246A>G (p.Asn749Ser)	AP1G2, THTPA (N620S +3 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2346035	NM_003917.5(AP1G2):c.2207G>A (p.Arg736Gln)	AP1G2, THTPA (R355Q +3 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GLikely benign
Select item 2490645	NM_003917.5(AP1G2):c.2071C>A (p.Pro691Thr)	AP1G2 (P310T +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2468740	NM_003917.5(AP1G2):c.2018T>G (p.Phe673Cys)	AP1G2 (F292C +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3127454	NM_003917.5(AP1G2):c.1981C>T (p.Pro661Ser)	AP1G2, AP1G2-AS1 (P280S +3 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2616686	NM_003917.5(AP1G2):c.1934C>T (p.Pro645Leu)	AP1G2, AP1G2-AS1 (P264L +3 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3127453	NM_003917.5(AP1G2):c.1866G>C (p.Gln622His)	AP1G2, AP1G2-AS1 (Q622H +3 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3127452	NM_003917.5(AP1G2):c.1769G>A (p.Arg590Gln)	AP1G2, AP1G2-AS1 (R518Q +3 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3127451	NM_003917.5(AP1G2):c.1759C>G (p.Leu587Val)	AP1G2, AP1G2-AS1 (L206V +3 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3127450	NM_003917.5(AP1G2):c.1720T>C (p.Tyr574His)	AP1G2, AP1G2-AS1 (Y193H +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3127449	NM_003917.5(AP1G2):c.1715G>A (p.Arg572Gln)	AP1G2, AP1G2-AS1 (R572Q +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3127448	NM_003917.5(AP1G2):c.1714C>T (p.Arg572Trp)	AP1G2, AP1G2-AS1 (R443W +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3127447	NM_003917.5(AP1G2):c.1642G>A (p.Val548Met)	AP1G2, AP1G2-AS1 (V167M +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2351408	NM_003917.5(AP1G2):c.1637G>A (p.Arg546His)	AP1G2, AP1G2-AS1 (R417H +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2468094	NM_003917.5(AP1G2):c.1561C>T (p.Pro521Ser)	AP1G2, AP1G2-AS1 (P392S +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3127446	NM_003917.5(AP1G2):c.1545G>C (p.Gln515His)	AP1G2, AP1G2-AS1 (Q134H +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2248044	NM_003917.5(AP1G2):c.1537G>T (p.Val513Leu)	AP1G2, AP1G2-AS1 (V384L +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3127445	NM_003917.5(AP1G2):c.1487T>C (p.Ile496Thr)	AP1G2, AP1G2-AS1 (I115T +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2595373	NM_003917.5(AP1G2):c.1394C>A (p.Ala465Glu)	AP1G2, AP1G2-AS1 (A336E +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3127444	NM_003917.5(AP1G2):c.1376G>A (p.Arg459His)	AP1G2, AP1G2-AS1 (R387H +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3127443	NM_003917.5(AP1G2):c.1372C>T (p.Arg458Cys)	AP1G2, AP1G2-AS1 (R329C +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2407347	NM_003917.5(AP1G2):c.1309G>A (p.Asp437Asn)	AP1G2, AP1G2-AS1 (D365N +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2510060	NM_003917.5(AP1G2):c.1304G>A (p.Arg435Gln)	AP1G2, AP1G2-AS1 (R363Q +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2526141	NM_003917.5(AP1G2):c.1289C>T (p.Ala430Val)	AP1G2, AP1G2-AS1 (A49V +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2473040	NM_003917.5(AP1G2):c.1286C>T (p.Thr429Met)	AP1G2, AP1G2-AS1 (T429M +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2456500	NM_003917.5(AP1G2):c.1267A>G (p.Ile423Val)	AP1G2, AP1G2-AS1 (I294V +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3127440	NM_003917.5(AP1G2):c.1181C>T (p.Pro394Leu)	AP1G2, AP1G2-AS1 (P13L +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2369075	NM_003917.5(AP1G2):c.1139G>A (p.Arg380Gln)	AP1G2, AP1G2-AS1 (R251Q +2 more)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2353799	NM_003917.5(AP1G2):c.1118T>C (p.Leu373Pro)	AP1G2, AP1G2-AS1 (L373P +2 more)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2385477	NM_003917.5(AP1G2):c.1090C>T (p.Arg364Trp)	AP1G2, AP1G2-AS1 (R235W +2 more)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3127439	NM_003917.5(AP1G2):c.1078G>A (p.Ala360Thr)	AP1G2, AP1G2-AS1 (A231T +2 more)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2410216	NM_003917.5(AP1G2):c.1067G>C (p.Arg356Pro)	AP1G2, AP1G2-AS1 (R284P +2 more)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2259983	NM_003917.5(AP1G2):c.1041T>G (p.His347Gln)	AP1G2, AP1G2-AS1 (H347Q +2 more)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3127461	NM_003917.5(AP1G2):c.926T>C (p.Leu309Pro)	AP1G2, AP1G2-AS1 (L180P +2 more)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2387020	NM_003917.5(AP1G2):c.901C>T (p.Arg301Cys)	AP1G2, AP1G2-AS1 (R229C +2 more)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3127460	NM_003917.5(AP1G2):c.878C>T (p.Thr293Ile)	AP1G2, AP1G2-AS1 (T164I +2 more)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2512178	NM_003917.5(AP1G2):c.860A>C (p.Asn287Thr)	AP1G2, AP1G2-AS1 (N287T +2 more)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2289521	NM_003917.5(AP1G2):c.754C>T (p.Arg252Cys)	AP1G2, AP1G2-AS1 (R252C +2 more)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2338955	NM_003917.5(AP1G2):c.686C>T (p.Thr229Ile)	AP1G2, AP1G2-AS1 (T229I +2 more)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 3127459	NM_003917.5(AP1G2):c.685A>G (p.Thr229Ala)	AP1G2, AP1G2-AS1 (T229A +2 more)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 2408409	NM_003917.5(AP1G2):c.673C>T (p.Arg225Trp)	AP1G2, AP1G2-AS1 (R225W +2 more)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 2556997	NM_003917.5(AP1G2):c.633G>T (p.Arg211Ser)	AP1G2, AP1G2-AS1 (R211S +2 more)	Single nucleotide variant (non-coding transcript variant +3 more)	not specified	GUncertain significance
Select item 2353800	NM_003917.5(AP1G2):c.618C>G (p.Ser206Arg)	AP1G2, AP1G2-AS1 (S134R +2 more)	Single nucleotide variant (non-coding transcript variant +3 more)	not specified	GUncertain significance
Select item 2623574	NM_003917.5(AP1G2):c.617G>A (p.Ser206Asn)	AP1G2, AP1G2-AS1 (S134N +2 more)	Single nucleotide variant (non-coding transcript variant +3 more)	not specified	GUncertain significance
Select item 3127458	NM_003917.5(AP1G2):c.604C>T (p.Leu202Phe)	AP1G2, AP1G2-AS1 (L202F +2 more)	Single nucleotide variant (non-coding transcript variant +3 more)	not specified	GUncertain significance
Select item 3127457	NM_003917.5(AP1G2):c.599C>T (p.Thr200Met)	AP1G2, AP1G2-AS1 (T200M +2 more)	Single nucleotide variant (non-coding transcript variant +3 more)	not specified	GUncertain significance
Select item 2214114	NM_003917.5(AP1G2):c.581G>A (p.Gly194Asp)	AP1G2, AP1G2-AS1 (G122D +2 more)	Single nucleotide variant (non-coding transcript variant +3 more)	not specified	GUncertain significance
Select item 2355255	NM_003917.5(AP1G2):c.541G>C (p.Ala181Pro)	AP1G2, AP1G2-AS1 (A181P +1 more)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 916555	NM_003917.5(AP1G2):c.464G>A (p.Arg155His)	AP1G2, AP1G2-AS1 (R26H +1 more)	Single nucleotide variant (non-coding transcript variant +2 more)	Tracheoesophageal fistula	GLikely pathogenic
Select item 2485897	NM_003917.5(AP1G2):c.451A>C (p.Ser151Arg)	AP1G2, AP1G2-AS1 (S151R +1 more)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 2229931	NM_003917.5(AP1G2):c.410G>A (p.Arg137Gln)	AP1G2, AP1G2-AS1 (R8Q +1 more)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 2393346	NM_003917.5(AP1G2):c.374G>A (p.Cys125Tyr)	AP1G2, AP1G2-AS1 (C125Y)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 2371400	NM_003917.5(AP1G2):c.356T>C (p.Val119Ala)	AP1G2, AP1G2-AS1 (V119A)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 1321287	NM_003917.5(AP1G2):c.259T>C (p.Tyr87His)	AP1G2, AP1G2-AS1 (Y87H)	Single nucleotide variant (non-coding transcript variant +3 more)	Global developmental delay	GUncertain significance
Select item 3127456	NM_003917.5(AP1G2):c.257G>A (p.Gly86Asp)	AP1G2, AP1G2-AS1 (G86D)	Single nucleotide variant (non-coding transcript variant +3 more)	not specified	GUncertain significance
Select item 2222091	NM_003917.5(AP1G2):c.205A>G (p.Met69Val)	AP1G2, AP1G2-AS1 (M69V)	Single nucleotide variant (non-coding transcript variant +3 more)	not specified	GUncertain significance
Select item 2205443	NM_003917.5(AP1G2):c.148C>A (p.Gln50Lys)	AP1G2, AP1G2-AS1 +1 more (Q50K)	Single nucleotide variant (non-coding transcript variant +3 more)	not specified	GUncertain significance
Select item 3127441	NM_003917.5(AP1G2):c.127G>A (p.Asp43Asn)	AP1G2, AP1G2-AS1 +1 more (D43N)	Single nucleotide variant (non-coding transcript variant +3 more)	not specified	GUncertain significance
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 2423736	NC_000014.8:g.(?_23242819)_(25103366_?)dup	ACIN1, ADCY4 +77 more	Duplication	Lysinuric protein intolerance +1 more	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 625814	GRCh37/hg19 14q11.2-12(chr14:19100682-28730087)	ARHGEF40, BCL2L2 +152 more	Copy number gain	not provided	GPathogenic
Select item 564100	GRCh37/hg19 14q11.2(chr14:23840034-24057640)x1	AP1G2, CMTM5 +9 more	Copy number loss	not provided	GUncertain significance
Select item 443977	GRCh37/hg19 14q11.2-32.33(chr14:20511673-107285437)	ABCD4, ABHD12B +624 more	Copy number gain	See cases	GPathogenic
Select item 395470	GRCh37/hg19 14q11.2-32.33(chr14:19794561-107234280)x3	ERG28, OR11G2 +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

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Items: 81