7013[HGNC] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 1 to 100 of 122

<< First< Prev

Page of 2

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 148363	GRCh38/hg38 17q23.1-25.1(chr17:36449220-75053130)x3	AARSD1, AATF +2032 more	Copy number gain	See cases	GPathogenic
Select item 57282	GRCh38/hg38 17q21.33-24.2(chr17:36449220-68170214)x3	LOC126862582, LOC126862583 +1753 more	Copy number gain	See cases	GPathogenic
Select item 58696	GRCh38/hg38 17q12-21.31(chr17:39199873-45629579)x3	LOC130060786, LOC130060787 +633 more	Copy number gain	See cases	GPathogenic
Select item 155568	GRCh38/hg38 17q21.31(chr17:43050945-43897883)x3	ARL4D, BRCA1 +52 more	Copy number gain	See cases	GUncertain significance
Select item 148621	GRCh38/hg38 17q21.31(chr17:43080123-43897875)x3	ARL4D, BRCA1 +52 more	Copy number gain	See cases	GUncertain significance
Select item 150167	GRCh38/hg38 17q21.31(chr17:43088882-43865172)x3	ARL4D, BRCA1 +50 more	Copy number gain	See cases	GUncertain significance
Select item 154024	GRCh38/hg38 17q21.31(chr17:43322528-43849385)x3	ARL4D, CD300LG +33 more	Copy number gain	See cases	GLikely benign
Select item 148000	GRCh38/hg38 17q21.31(chr17:43387123-43865083)x3	ARL4D, CD300LG +26 more	Copy number gain	See cases	GUncertain significance
Select item 59586	GRCh38/hg38 17q21.31(chr17:43570878-44762377)x1	ADAM11, ASB16 +104 more	Copy number loss	See cases	GPathogenic
Select item 2499654	GRCh38/hg38 17q21.31(chr17:43603558-44033313)	CD300LG, CFAP97D1 +29 more	Copy number gain	Anomalous pulmonary venous return	GUncertain significance
Select item 1389000	NM_004527.4(MEOX1):c.755G>A (p.Ser252Asn)	MEOX1 (S137N +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1509826	NM_004527.4(MEOX1):c.740C>T (p.Ser247Phe)	MEOX1 (S132F +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2008990	NM_004527.4(MEOX1):c.736del (p.Asp246fs)	MEOX1 (D246fs +1 more)	Deletion (frameshift variant +1 more)	not provided	GUncertain significance
Select item 725167	NM_004527.4(MEOX1):c.729G>A (p.Glu243=)	MEOX1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3125309	NM_004527.4(MEOX1):c.727G>A (p.Glu243Lys)	MEOX1 (E128K +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1553644	NM_004527.4(MEOX1):c.726T>G (p.Pro242=)	MEOX1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 498555	NM_004527.4(MEOX1):c.721G>C (p.Asp241His)	MEOX1 (D126H +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 714734	NM_004527.4(MEOX1):c.713A>G (p.Asn238Ser)	MEOX1 (N123S +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2821726	NM_004527.4(MEOX1):c.708C>T (p.Ser236=)	MEOX1 (P179S)	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 736085	NM_004527.4(MEOX1):c.700C>A (p.Pro234Thr)	MEOX1 (A176D +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 734471	NM_004527.4(MEOX1):c.690G>A (p.Lys230=)	MEOX1 (G173R)	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3294233	NM_004527.4(MEOX1):c.683G>A (p.Arg228His)	MEOX1 (R113H +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1387215	NM_004527.4(MEOX1):c.682C>T (p.Arg228Cys)	MEOX1 (R228C +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1558553	NM_004527.4(MEOX1):c.681G>A (p.Lys227=)	MEOX1 (A170T)	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1362071	NM_004527.4(MEOX1):c.665G>A (p.Arg222Gln)	MEOX1 (R107Q +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 39508	NM_004527.4(MEOX1):c.664C>T (p.Arg222Ter)	MEOX1 (R222* +2 more)	Single nucleotide variant (nonsense +1 more)	Klippel-Feil syndrome 2, autosomal recessive	GPathogenic
Select item 2798620	NM_004527.4(MEOX1):c.663C>T (p.Asn221=)	MEOX1 (P164S)	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3125308	NM_004527.4(MEOX1):c.643G>A (p.Val215Ile)	MEOX1 (V215I +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2877813	NM_004527.4(MEOX1):c.643-11T>C	MEOX1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1236576	NM_004527.4(MEOX1):c.643-220C>T	MEOX1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2088519	NM_004527.4(MEOX1):c.642+17C>A	MEOX1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1902247	NM_004527.4(MEOX1):c.642+11G>A	MEOX1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1600704	NM_004527.4(MEOX1):c.642+4C>A	MEOX1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2010056	NM_004527.4(MEOX1):c.636G>A (p.Glu212=)	MEOX1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1916856	NM_004527.4(MEOX1):c.621C>T (p.Asn207=)	MEOX1	Single nucleotide variant (synonymous variant +1 more)	not provided	GUncertain significance
Select item 2152287	NM_004527.4(MEOX1):c.614C>T (p.Ala205Val)	MEOX1 (A90V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1623671	NM_004527.4(MEOX1):c.606T>C (p.Tyr202=)	MEOX1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2041952	NM_004527.4(MEOX1):c.597C>T (p.Leu199=)	MEOX1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2539933	NM_004527.4(MEOX1):c.593G>A (p.Arg198Gln)	MEOX1 (R83Q +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2029840	NM_004527.4(MEOX1):c.588G>A (p.Leu196=)	MEOX1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 734020	NM_004527.4(MEOX1):c.578A>G (p.His193Arg)	MEOX1 (H193R +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 1620852	NM_004527.4(MEOX1):c.556C>T (p.Leu186=)	MEOX1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1496539	NM_004527.4(MEOX1):c.551G>A (p.Arg184Gln)	MEOX1 (R69Q +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2063717	NM_004527.4(MEOX1):c.537C>T (p.Thr179=)	MEOX1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2869247	NM_004527.4(MEOX1):c.535A>G (p.Thr179Ala)	MEOX1 (T64A +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1345139	NM_004527.4(MEOX1):c.529G>T (p.Ala177Ser)	MEOX1 (A177S +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1430946	NM_004527.4(MEOX1):c.527C>T (p.Thr176Met)	MEOX1 (T61M +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2998189	NM_004527.4(MEOX1):c.519G>A (p.Lys173=)	MEOX1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1990171	NM_004527.4(MEOX1):c.518A>G (p.Lys173Arg)	MEOX1 (K58R +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3362420	NM_004527.4(MEOX1):c.514C>T (p.Arg172Cys)	MEOX1 (R172C +1 more)	Single nucleotide variant (missense variant +1 more)	Klippel-Feil syndrome 2, autosomal recessive	GLikely pathogenic
Select item 1466738	NM_004527.4(MEOX1):c.505A>G (p.Ser169Gly)	MEOX1 (S54G +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1473745	NM_004527.4(MEOX1):c.503G>A (p.Ser168Asn)	MEOX1 (S168N +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1443000	NM_004527.4(MEOX1):c.502A>G (p.Ser168Gly)	MEOX1 (S53G +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1400187	NM_004527.4(MEOX1):c.494C>T (p.Pro165Leu)	MEOX1 (P165L +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2094039	NM_004527.4(MEOX1):c.489G>A (p.Gly163=)	MEOX1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2399607	NM_004527.4(MEOX1):c.484A>G (p.Arg162Gly)	MEOX1 (R47G +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2493576	NM_004527.4(MEOX1):c.480G>C (p.Glu160Asp)	MEOX1 (E160D +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2962828	NM_004527.4(MEOX1):c.470-4C>T	MEOX1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1600949	NM_004527.4(MEOX1):c.470-16G>A	MEOX1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1265705	NM_004527.4(MEOX1):c.470-174A>G	MEOX1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1222503	NM_004527.4(MEOX1):c.469+218A>G	MEOX1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2050999	NM_004527.4(MEOX1):c.452G>A (p.Arg151Gln)	MEOX1 (R151Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2797347	NM_004527.4(MEOX1):c.451C>A (p.Arg151=)	MEOX1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 787455	NM_004527.4(MEOX1):c.444A>G (p.Ser148=)	MEOX1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2979241	NM_004527.4(MEOX1):c.402C>T (p.Tyr134=)	MEOX1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2146916	NM_004527.4(MEOX1):c.393C>T (p.Gly131=)	MEOX1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1906693	NM_004527.4(MEOX1):c.391G>A (p.Gly131Ser)	MEOX1 (G16S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1912876	NM_004527.4(MEOX1):c.388C>T (p.Pro130Ser)	MEOX1 (P130S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1539483	NM_004527.4(MEOX1):c.378C>T (p.Thr126=)	MEOX1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1926814	NM_004527.4(MEOX1):c.365G>T (p.Gly122Val)	MEOX1 (G122V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1376290	NM_004527.4(MEOX1):c.356G>A (p.Ser119Asn)	MEOX1 (S119N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3125306	NM_004527.4(MEOX1):c.349G>C (p.Gly117Arg)	MEOX1 (G117R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3125305	NM_004527.4(MEOX1):c.331G>A (p.Gly111Arg)	MEOX1 (G111R)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 708225	NM_004527.4(MEOX1):c.327G>A (p.Pro109=)	MEOX1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 707963	NM_004527.4(MEOX1):c.327G>C (p.Pro109=)	MEOX1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 1362100	NM_004527.4(MEOX1):c.317A>C (p.Asn106Thr)	MEOX1 (N106T)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1945685	NM_004527.4(MEOX1):c.311G>A (p.Arg104Lys)	MEOX1 (R104K)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1463941	NM_004527.4(MEOX1):c.308G>A (p.Arg103His)	MEOX1 (R103H)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GConflicting classifications of pathogenicity
Select item 1369199	NM_004527.4(MEOX1):c.305G>A (p.Arg102Gln)	MEOX1 (R102Q)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1421123	NM_004527.4(MEOX1):c.304C>T (p.Arg102Trp)	MEOX1 (R102W)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1418667	NM_004527.4(MEOX1):c.302C>A (p.Ala101Asp)	MEOX1 (A101D)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1351806	NM_004527.4(MEOX1):c.301G>A (p.Ala101Thr)	MEOX1 (A101T)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1959044	NM_004527.4(MEOX1):c.279C>A (p.Asn93Lys)	MEOX1 (N93K)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1442998	NM_004527.4(MEOX1):c.269A>G (p.Gln90Arg)	MEOX1 (Q90R)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1407500	NM_004527.4(MEOX1):c.259G>A (p.Ala87Thr)	MEOX1 (A87T)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 730748	NM_004527.4(MEOX1):c.258C>T (p.Pro86=)	MEOX1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1438115	NM_004527.4(MEOX1):c.254A>C (p.His85Pro)	MEOX1 (H85P)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2216748	NM_004527.4(MEOX1):c.253C>T (p.His85Tyr)	MEOX1 (H85Y)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 162132	NM_004527.4(MEOX1):c.250C>T (p.Gln84Ter)	MEOX1 (Q84*)	Single nucleotide variant (5 prime UTR variant +1 more)	Klippel-Feil syndrome 2, autosomal recessive	GPathogenic
Select item 2512290	NM_004527.4(MEOX1):c.191C>G (p.Ala64Gly)	MEOX1 (A64G)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1436267	NM_004527.4(MEOX1):c.190G>A (p.Ala64Thr)	MEOX1 (A64T)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 725045	NM_004527.4(MEOX1):c.189A>G (p.Ser63=)	MEOX1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 3125304	NM_004527.4(MEOX1):c.184T>C (p.Phe62Leu)	MEOX1 (F62L)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1622200	NM_004527.4(MEOX1):c.174G>A (p.Ala58=)	MEOX1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 3029888	NM_004527.4(MEOX1):c.165G>A (p.Ala55=)	MEOX1	Single nucleotide variant (5 prime UTR variant +1 more)	MEOX1-related disorder	GLikely benign
Select item 2540791	NM_004527.4(MEOX1):c.163G>A (p.Ala55Thr)	MEOX1 (A55T)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 498557	NM_004527.4(MEOX1):c.126G>A (p.Pro42=)	MEOX1	Single nucleotide variant (synonymous variant +1 more)	not provided	GConflicting classifications of pathogenicity
Select item 2175067	NM_004527.4(MEOX1):c.116C>T (p.Pro39Leu)	MEOX1 (P39L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 39507	NM_004527.4(MEOX1):c.94del (p.Ala32fs)	MEOX1 (A32fs)	Deletion (frameshift variant +1 more)	Klippel-Feil syndrome 2, autosomal recessive	GLikely pathogenic
Select item 754857	NM_004527.4(MEOX1):c.90T>C (p.Asn30=)	MEOX1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign

<< First< Prev

Page of 2