20509[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155306	GRCh38/hg38 14q11.2-32.33(chr14:20043514-106877229)x3	ABCD4, ABHD12B +3281 more	Copy number gain	See cases	GPathogenic
Select item 146230	GRCh38/hg38 14q11.2-32.33(chr14:20151149-106855263)x3	ABCD4, ABHD12B +3276 more	Copy number gain	See cases	GPathogenic
Select item 144518	GRCh38/hg38 14q24.3-32.33(chr14:73655772-106879298)x3	LOC132090296, LOC132090297 +1422 more	Copy number gain	See cases	GPathogenic
Select item 149176	GRCh38/hg38 14q24.3-32.33(chr14:77222795-106879298)x3	LOC130056647, LOC130056648 +1203 more	Copy number gain	See cases	GPathogenic
Select item 58526	GRCh38/hg38 14q31.3-32.33(chr14:86094030-106832642)x3	LOC130056481, LOC130056482 +1072 more	Copy number gain	See cases	GPathogenic
Select item 645863	NC_000014.8:g.(?_88852143)_(89343774_?)dup	EML5, LOC129390658 +13 more	Duplication	Bardet-Biedl syndrome	GUncertain significance
Select item 147789	GRCh38/hg38 14q31.3(chr14:88463741-88715010)x1	EML5, LOC130056227 +7 more	Copy number loss	See cases	GUncertain significance
Select item 212625	NM_024824.5(ZC3H14):c.48G>A (p.Lys16=)	ZC3H14	Single nucleotide variant (synonymous variant +2 more)	not specified +1 more	GLikely benign
Select item 3045198	NM_024824.5(ZC3H14):c.51G>A (p.Gly17=)	ZC3H14	Single nucleotide variant (synonymous variant +2 more)	ZC3H14-related disorder	GLikely benign
Select item 1336691	NM_024824.5(ZC3H14):c.79+14dup	ZC3H14	Duplication (intron variant)	not specified	GUncertain significance
Select item 212627	NM_024824.5(ZC3H14):c.79+19G>T	ZC3H14	Single nucleotide variant (intron variant)	not specified +1 more	GUncertain significance
Select item 3032774	NM_024824.5(ZC3H14):c.153G>C (p.Leu51=)	ZC3H14	Single nucleotide variant (synonymous variant +2 more)	ZC3H14-related disorder	GLikely benign
Select item 212622	NM_024824.5(ZC3H14):c.171C>G (p.Asn57Lys)	ZC3H14 (N57K +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 733382	NM_024824.5(ZC3H14):c.189C>T (p.Thr63=)	ZC3H14	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 445396	NM_024824.5(ZC3H14):c.235+14_235+15insATT	ZC3H14	Insertion (intron variant)	not provided	GLikely benign
Select item 2392276	NM_024824.5(ZC3H14):c.250A>G (p.Lys84Glu)	ZC3H14 (K84E +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 437307	NM_024824.5(ZC3H14):c.264C>T (p.Thr88=)	ZC3H14	Single nucleotide variant (synonymous variant +2 more)	not specified	GLikely benign
Select item 756050	NM_024824.5(ZC3H14):c.282C>T (p.Asn94=)	ZC3H14	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 713283	NM_024824.5(ZC3H14):c.286C>G (p.Pro96Ala)	ZC3H14 (P62A +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GBenign
Select item 623853	NM_024824.5(ZC3H14):c.294C>T (p.Asn98=)	ZC3H14	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 1031410	NM_024824.5(ZC3H14):c.311G>A (p.Arg104Gln)	ZC3H14 (R104Q +1 more)	Single nucleotide variant (missense variant +2 more)	Intellectual disability, autosomal recessive 56	GUncertain significance
Select item 3192324	NM_024824.5(ZC3H14):c.368G>A (p.Arg123Lys)	ZC3H14 (R123K +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3334051	NM_024824.5(ZC3H14):c.375A>T (p.Glu125Asp)	ZC3H14 (E125D +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3334057	NM_024824.5(ZC3H14):c.398C>A (p.Thr133Lys)	ZC3H14 (T99K +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3058481	NM_024824.5(ZC3H14):c.429C>T (p.Val143=)	ZC3H14	Single nucleotide variant (synonymous variant +2 more)	ZC3H14-related disorder	GLikely benign
Select item 130767	NM_024824.5(ZC3H14):c.432-3T>C	ZC3H14	Single nucleotide variant (intron variant)	Intellectual disability, autosomal recessive 56 +2 more	GBenign/Likely benign
Select item 2621960	NM_024824.5(ZC3H14):c.439T>C (p.Tyr147His)	ZC3H14 (Y113H +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 718566	NM_024824.5(ZC3H14):c.441C>T (p.Tyr147=)	ZC3H14	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 254278	NM_024824.5(ZC3H14):c.460C>T (p.Arg154Ter)	ZC3H14 (R154* +1 more)	Single nucleotide variant (nonsense +2 more)	Intellectual disability, autosomal recessive 56	GPathogenic
Select item 3334055	NM_024824.5(ZC3H14):c.467T>C (p.Met156Thr)	ZC3H14 (M122T +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3334052	NM_024824.5(ZC3H14):c.547G>A (p.Asp183Asn)	ZC3H14 (D149N +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2468387	NM_024824.5(ZC3H14):c.634A>G (p.Ile212Val)	ZC3H14 (I178V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3192325	NM_024824.5(ZC3H14):c.696G>T (p.Leu232Phe)	ZC3H14 (L198F +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3041375	NM_024824.5(ZC3H14):c.714G>A (p.Gln238=)	ZC3H14	Single nucleotide variant (synonymous variant +1 more)	ZC3H14-related disorder	GLikely benign
Select item 212626	NM_024824.5(ZC3H14):c.736C>G (p.Gln246Glu)	ZC3H14 (Q246E +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 437308	NM_024824.5(ZC3H14):c.744T>C (p.Asp248=)	ZC3H14	Single nucleotide variant (synonymous variant +1 more)	not specified +1 more	GBenign/Likely benign
Select item 2599800	NM_024824.5(ZC3H14):c.815C>T (p.Thr272Met)	ZC3H14 (T117M +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 437314	NM_024824.5(ZC3H14):c.818A>G (p.Tyr273Cys)	ZC3H14 (Y273C +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 437309	NM_024824.5(ZC3H14):c.825G>A (p.Pro275=)	ZC3H14	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 2494794	NM_024824.5(ZC3H14):c.839A>C (p.Asn280Thr)	ZC3H14 (N125T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1337189	NM_024824.5(ZC3H14):c.842C>T (p.Ser281Leu)	ZC3H14 (S126L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 728973	NM_024824.5(ZC3H14):c.853A>T (p.Ser285Cys)	ZC3H14 (S130C +2 more)	Single nucleotide variant (missense variant +1 more)	Intellectual disability, autosomal recessive 56 +1 more	GConflicting classifications of pathogenicity
Select item 2513107	NM_024824.5(ZC3H14):c.922T>A (p.Phe308Ile)	ZC3H14 (F274I +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3334058	NM_024824.5(ZC3H14):c.929A>G (p.His310Arg)	ZC3H14 (H310R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3192326	NM_024824.5(ZC3H14):c.955G>A (p.Asp319Asn)	ZC3H14 (D164N +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 737231	NM_024824.5(ZC3H14):c.963C>T (p.Tyr321=)	ZC3H14	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 437310	NM_024824.5(ZC3H14):c.971G>A (p.Arg324Gln)	ZC3H14 (R324Q +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 596522	NM_024824.5(ZC3H14):c.998C>T (p.Ser333Phe)	ZC3H14 (S333F +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 130765	NM_024824.5(ZC3H14):c.1023-4T>G	ZC3H14	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 1337008	NM_024824.5(ZC3H14):c.1071G>A (p.Lys357=)	ZC3H14	Single nucleotide variant (synonymous variant +1 more)	not specified +2 more	GLikely benign
Select item 3192320	NM_024824.5(ZC3H14):c.1096G>A (p.Val366Ile)	ZC3H14 (V211I +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1031409	NM_024824.5(ZC3H14):c.1133A>G (p.Lys378Arg)	ZC3H14 (K223R +2 more)	Single nucleotide variant (missense variant +2 more)	not specified +1 more	GUncertain significance
Select item 2644436	NM_024824.5(ZC3H14):c.1187C>T (p.Ala396Val)	ZC3H14 (A241V +2 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 212619	NM_024824.5(ZC3H14):c.1230C>T (p.Pro410=)	ZC3H14	Single nucleotide variant (synonymous variant +2 more)	not specified	GUncertain significance
Select item 1030880	NM_024824.5(ZC3H14):c.1232C>T (p.Pro411Leu)	ZC3H14 (P377L +2 more)	Single nucleotide variant (missense variant +2 more)	Intellectual disability, autosomal recessive 56	GUncertain significance
Select item 2604346	NM_024824.5(ZC3H14):c.1234A>G (p.Ile412Val)	ZC3H14 (I257V +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 437311	NM_024824.5(ZC3H14):c.1260T>G (p.Asp420Glu)	ZC3H14 (D420E +2 more)	Single nucleotide variant (missense variant +2 more)	ZC3H14-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 2486717	NM_024824.5(ZC3H14):c.1273A>C (p.Asn425His)	ZC3H14 (N270H +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 981893	NM_024824.5(ZC3H14):c.1279+9T>C	ZC3H14	Single nucleotide variant (intron variant)	ZC3H14-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 1675546	NM_024824.5(ZC3H14):c.1280-1960T>A	ZC3H14	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1029539	NM_024824.5(ZC3H14):c.1280-1856A>G	ZC3H14 (N51S)	Single nucleotide variant (missense variant +1 more)	Intellectual disability, autosomal recessive 56	GUncertain significance
Select item 2644437	NM_024824.5(ZC3H14):c.1280-1664C>G	ZC3H14 (T115S)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 212620	NM_024824.5(ZC3H14):c.1304C>T (p.Ser435Phe)	ZC3H14 (S435F +3 more)	Single nucleotide variant (missense variant +2 more)	not specified +1 more	GBenign/Likely benign
Select item 2275958	NM_024824.5(ZC3H14):c.1307G>A (p.Arg436Gln)	ZC3H14 (R138Q +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 1684249	NM_024824.5(ZC3H14):c.1354+15A>G	ZC3H14	Single nucleotide variant (intron variant)	Intellectual disability, autosomal recessive 56	GBenign
Select item 2302353	NM_024824.5(ZC3H14):c.1378G>T (p.Val460Phe)	ZC3H14 (V280F +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 915328	NM_024824.5(ZC3H14):c.1424C>T (p.Ser475Phe)	ZC3H14 (S450F +5 more)	Single nucleotide variant (missense variant +1 more)	Intellectual disability, autosomal recessive 56	GLikely benign
Select item 437315	NM_024824.5(ZC3H14):c.1432G>A (p.Val478Ile)	ZC3H14 (V478I +5 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 3334053	NM_024824.5(ZC3H14):c.1433T>C (p.Val478Ala)	ZC3H14 (V453A +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2489485	NM_024824.5(ZC3H14):c.1455G>C (p.Glu485Asp)	ZC3H14 (E305D +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 130764	NM_024824.5(ZC3H14):c.1522G>A (p.Val508Ile)	ZC3H14 (V508I +5 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2644438	NM_024824.5(ZC3H14):c.1539T>C (p.Pro513=)	ZC3H14	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 3192321	NM_024824.5(ZC3H14):c.1544G>C (p.Ser515Thr)	ZC3H14 (S335T +5 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 212621	NM_024824.5(ZC3H14):c.1563G>A (p.Thr521=)	ZC3H14	Single nucleotide variant (synonymous variant +2 more)	not specified	GUncertain significance
Select item 2637763	NM_024824.5(ZC3H14):c.1571del (p.Gly524fs)	ZC3H14 (G344fs +5 more)	Deletion (frameshift variant +2 more)	not specified	GUncertain significance
Select item 2226399	NM_024824.5(ZC3H14):c.1610A>T (p.Glu537Val)	ZC3H14 (E357V +5 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3334054	NM_024824.5(ZC3H14):c.1724A>G (p.Asp575Gly)	ZC3H14 (D395G +5 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3026487	NM_024824.5(ZC3H14):c.1746C>T (p.Asn582=)	ZC3H14	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2604272	NM_024824.5(ZC3H14):c.1748C>T (p.Ala583Val)	ZC3H14 (A375V +15 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 437312	NM_024824.5(ZC3H14):c.1868+34_1868+64del	ZC3H14	Microsatellite (splice donor variant)	not specified	GUncertain significance
Select item 2336752	NM_024824.5(ZC3H14):c.1894G>A (p.Glu632Lys)	ZC3H14 (E346K +15 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2644439	NM_024824.5(ZC3H14):c.1929T>C (p.Tyr643=)	ZC3H14	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2283403	NM_024824.5(ZC3H14):c.1963A>G (p.Thr655Ala)	ZC3H14 (T490A +15 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2644440	NM_024824.5(ZC3H14):c.1968T>C (p.His656=)	ZC3H14	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2210100	NM_024824.5(ZC3H14):c.1987G>A (p.Val663Ile)	ZC3H14 (V507I +15 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 716291	NM_024824.5(ZC3H14):c.1990C>T (p.Leu664=)	ZC3H14	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 437313	NM_024824.5(ZC3H14):c.2005+12_2005+15del	ZC3H14	Deletion (intron variant)	not specified	GUncertain significance
Select item 2213157	NM_024824.5(ZC3H14):c.2033G>A (p.Ser678Asn)	ZC3H14 (S248N +25 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3192323	NM_024824.5(ZC3H14):c.2048G>A (p.Arg683His)	ZC3H14 (R253H +25 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2276759	NM_024824.5(ZC3H14):c.2116C>A (p.Gln706Lys)	ZC3H14 (Q394K +25 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 768673	NM_024824.5(ZC3H14):c.2118A>G (p.Gln706=)	ZC3H14	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 212623	NM_024824.5(ZC3H14):c.2129C>T (p.Pro710Leu)	ZC3H14 (P710L +25 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 212624	NM_024824.5(ZC3H14):c.2130G>A (p.Pro710=)	ZC3H14	Single nucleotide variant (synonymous variant +1 more)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 2531934	NM_024824.5(ZC3H14):c.2171G>A (p.Arg724Gln)	ZC3H14 (R569Q +25 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2319103	NM_024824.5(ZC3H14):c.2176G>A (p.Ala726Thr)	ZC3H14 (A415T +25 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2644441	NM_024824.5(ZC3H14):c.2184A>G (p.Lys728=)	ZC3H14	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 717949	NM_024824.5(ZC3H14):c.2204+4A>C	ZC3H14	Single nucleotide variant (intron variant)	ZC3H14-related disorder +1 more	GBenign
Select item 254279	NM_024824.5(ZC3H14):c.2204+17_2204+41del	ZC3H14	Deletion (intron variant)	not provided	GBenign
Select item 717950	NM_024824.5(ZC3H14):c.2204+10C>G	ZC3H14	Single nucleotide variant (intron variant)	ZC3H14-related disorder +1 more	GBenign
Select item 130766	NM_024824.5(ZC3H14):c.2206G>A (p.Glu736Lys)	ZC3H14 (E736K +25 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance

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