2254[geneid] - ClinVar - NCBI

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

Search results

Items: 1 to 100 of 205

<< First< Prev

Page of 3

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146305	GRCh38/hg38 13q11-34(chr13:18445862-114327173)x1	ATP8A2, ATXN8OS +2049 more	Copy number loss	See cases	GPathogenic
Select item 151282	GRCh38/hg38 13q11-34(chr13:18456040-114340285)x3	LOC130009892, LOC130009893 +2050 more	Copy number gain	See cases	GPathogenic
Select item 59851	GRCh38/hg38 13q11-34(chr13:18565048-114327173)x3	LOC130009819, LOC130009820 +2048 more	Copy number gain	See cases	GPathogenic
Select item 59853	GRCh38/hg38 13q11-13.3(chr13:18676442-37656039)x3	LOC130009419, LOC130009420 +567 more	Copy number gain	See cases	GPathogenic
Select item 59855	GRCh38/hg38 13q11-34(chr13:18850545-114327173)x3	ABCC4, ABHD13 +2045 more	Copy number gain	See cases	GPathogenic
Select item 155395	GRCh38/hg38 13q11-34(chr13:18862146-114342258)x3	ABCC4, ABHD13 +2046 more	Copy number gain	See cases	GPathogenic
Select item 153719	GRCh38/hg38 13q11-12.11(chr13:18862146-22489174)x3	CRYL1, EEF1AKMT1 +116 more	Copy number gain	See cases	GPathogenic
Select item 153502	GRCh38/hg38 13q11-13.2(chr13:18862146-33577351)x3	LOC126861730, LOC126861731 +489 more	Copy number gain	See cases	GPathogenic
Select item 59858	GRCh38/hg38 13q12.11-34(chr13:18946182-114304628)x3	LOC130009309, LOC130009310 +2041 more	Copy number gain	See cases	GPathogenic
Select item 59861	GRCh38/hg38 13q12.11-12.3(chr13:18958091-31090460)x3	LOC130009490, LOC130009491 +416 more	Copy number gain	See cases	GPathogenic
Select item 155130	GRCh38/hg38 13q12.11-12.13(chr13:19671934-24985872)x1	ATP12A, C1QTNF9 +181 more	Copy number loss	See cases	GPathogenic
Select item 154857	GRCh38/hg38 13q12.11-34(chr13:19671934-114340331)x3	LOC130009607, LOC130009608 +2029 more	Copy number gain	See cases	GPathogenic
Select item 148827	GRCh38/hg38 13q12.11-14.11(chr13:19671934-40914767)x3	LOC132090185, LOC132090186 +621 more	Copy number gain	See cases	GPathogenic
Select item 150189	GRCh38/hg38 13q12.11-34(chr13:19833130-114327106)x3	ABCC4, ABHD13 +2025 more	Copy number gain	See cases	GPathogenic
Select item 144647	GRCh38/hg38 13q12.11-34(chr13:19833130-114298614)x3	LOC130009383, LOC130009384 +2022 more	Copy number gain	See cases	GPathogenic
Select item 160881	GRCh38/hg38 13q12.11-34(chr13:19837395-114327173)x3	LOC126861859, LOC126861860 +2025 more	Copy number gain	See cases	GPathogenic
Select item 147997	GRCh38/hg38 13q12.11(chr13:19837395-21967789)x1	CRYL1, EEF1AKMT1 +84 more	Copy number loss	See cases	GUncertain significance
Select item 59863	GRCh38/hg38 13q12.11-34(chr13:19837395-114327173)x3	LOC112163664, LOC112163665 +2025 more	Copy number gain	See cases	GPathogenic
Select item 145365	GRCh38/hg38 13q12.11(chr13:19885283-22014498)x1	CRYL1, EEF1AKMT1 +79 more	Copy number loss	See cases	GPathogenic
Select item 57615	GRCh38/hg38 13q12.11(chr13:20026650-21967789)x1	SAP18, SKA3 +75 more	Copy number loss	See cases	GPathogenic
Select item 148030	GRCh38/hg38 13q12.11-12.12(chr13:21164677-22802191)x3	FGF9, LINC00424 +37 more	Copy number gain	See cases	GUncertain significance
Select item 881703	NM_002010.2(FGF9):c.-849G>T	FGF9	Single nucleotide variant	Multiple synostoses syndrome 3	GUncertain significance
Select item 881704	NM_002010.3(FGF9):c.-829C>T	FGF9	Single nucleotide variant (5 prime UTR variant)	Multiple synostoses syndrome 3	GUncertain significance
Select item 311402	NM_002010.3(FGF9):c.-796C>T	FGF9	Single nucleotide variant (5 prime UTR variant)	Multiple synostoses syndrome 3	GUncertain significance
Select item 311403	NM_002010.3(FGF9):c.-777G>T	FGF9	Single nucleotide variant (5 prime UTR variant)	Multiple synostoses syndrome 3	GUncertain significance
Select item 881705	NM_002010.3(FGF9):c.-767G>C	FGF9	Single nucleotide variant (5 prime UTR variant)	Multiple synostoses syndrome 3	GUncertain significance
Select item 311404	NM_002010.3(FGF9):c.-726C>T	FGF9	Single nucleotide variant (5 prime UTR variant)	Multiple synostoses syndrome 3	GBenign
Select item 311405	NM_002010.3(FGF9):c.-712C>T	FGF9	Single nucleotide variant (5 prime UTR variant)	Multiple synostoses syndrome 3	GBenign
Select item 311406	NM_002010.3(FGF9):c.-703C>T	FGF9	Single nucleotide variant (5 prime UTR variant)	Multiple synostoses syndrome 3	GUncertain significance
Select item 311407	NM_002010.3(FGF9):c.-585dup	FGF9	Duplication (5 prime UTR variant)	Symphalangism-brachydactyly syndrome	GUncertain significance
Select item 311408	NM_002010.3(FGF9):c.-452A>T	FGF9	Single nucleotide variant (5 prime UTR variant)	Multiple synostoses syndrome 3	GUncertain significance
Select item 311409	NM_002010.3(FGF9):c.-429G>A	FGF9	Single nucleotide variant (5 prime UTR variant)	Multiple synostoses syndrome 3	GBenign
Select item 311410	NM_002010.3(FGF9):c.-414C>T	FGF9	Single nucleotide variant (5 prime UTR variant)	Multiple synostoses syndrome 3	GBenign
Select item 311411	NM_002010.3(FGF9):c.-335del	FGF9	Deletion (5 prime UTR variant)	Symphalangism-brachydactyly syndrome	GUncertain significance
Select item 311412	NM_002010.3(FGF9):c.-256G>A	FGF9	Single nucleotide variant (5 prime UTR variant)	Multiple synostoses syndrome 3	GUncertain significance
Select item 311413	NM_002010.3(FGF9):c.-171A>G	FGF9	Single nucleotide variant (5 prime UTR variant)	Multiple synostoses syndrome 3 +1 more	GBenign
Select item 311414	NM_002010.3(FGF9):c.-151G>T	FGF9	Single nucleotide variant (5 prime UTR variant)	Multiple synostoses syndrome 3	GUncertain significance
Select item 311416	NM_002010.3(FGF9):c.-118_-117dup	FGF9	Duplication (5 prime UTR variant)	Symphalangism-brachydactyly syndrome	GBenign
Select item 311415	NM_002010.3(FGF9):c.-117dup	FGF9	Duplication (5 prime UTR variant)	Symphalangism-brachydactyly syndrome	GBenign
Select item 311417	NM_002010.3(FGF9):c.-118_-117insC	FGF9	Insertion (5 prime UTR variant)	Symphalangism-brachydactyly syndrome	GLikely benign
Select item 311418	NM_002010.3(FGF9):c.-116dup	FGF9	Duplication (5 prime UTR variant)	Symphalangism-brachydactyly syndrome	GUncertain significance
Select item 311419	NM_002010.3(FGF9):c.-45C>T	FGF9	Single nucleotide variant (5 prime UTR variant)	Multiple synostoses syndrome 3	GUncertain significance
Select item 311420	NM_002010.3(FGF9):c.-37dup	FGF9	Duplication (5 prime UTR variant)	Symphalangism-brachydactyly syndrome	GUncertain significance
Select item 1804963	NM_002010.3(FGF9):c.11T>C (p.Leu4Ser)	FGF9 (L4S)	Single nucleotide variant (missense variant)	Multiple synostoses syndrome 3	GLikely pathogenic
Select item 2966371	NM_002010.3(FGF9):c.33C>T (p.Phe11=)	FGF9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1498349	NM_002010.3(FGF9):c.38T>A (p.Val13Glu)	FGF9 (V13E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 746291	NM_002010.3(FGF9):c.42G>C (p.Gln14His)	FGF9 (Q14H)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2176966	NM_002010.3(FGF9):c.54G>A (p.Pro18=)	FGF9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2768418	NM_002010.3(FGF9):c.58G>C (p.Gly20Arg)	FGF9 (G20R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3514983	NM_002010.3(FGF9):c.76C>T (p.Pro26Ser)	FGF9 (P26S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1473856	NM_002010.3(FGF9):c.77C>G (p.Pro26Arg)	FGF9 (P26R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3094759	NM_002010.3(FGF9):c.88C>T (p.Pro30Ser)	FGF9 (P30S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2959765	NM_002010.3(FGF9):c.90G>A (p.Pro30=)	FGF9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1909555	NM_002010.3(FGF9):c.96_98del (p.Leu33del)	FGF9 (L33del)	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 2702341	NM_002010.3(FGF9):c.104A>G (p.Asp35Gly)	FGF9 (D35G)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1562897	NM_002010.3(FGF9):c.117G>A (p.Gln39=)	FGF9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1538451	NM_002010.3(FGF9):c.159C>T (p.Asp53=)	FGF9	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 444874	NM_002010.3(FGF9):c.184A>G (p.Arg62Gly)	FGF9 (R62G)	Single nucleotide variant (missense variant)	Multiple synostoses syndrome 3	GPathogenic
Select item 2506665	NM_002010.3(FGF9):c.190A>G (p.Arg64Gly)	FGF9 (R64G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2819382	NM_002010.3(FGF9):c.277+5G>A	FGF9	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2958537	NM_002010.3(FGF9):c.277+19C>T	FGF9	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1282675	NM_002010.3(FGF9):c.278-276A>G	FGF9	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1290272	NM_002010.3(FGF9):c.278-28T>C	FGF9	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 311421	NM_002010.3(FGF9):c.278-14C>T	FGF9	Single nucleotide variant (intron variant)	Multiple synostoses syndrome 3 +1 more	GBenign
Select item 1918098	NM_002010.3(FGF9):c.278-13C>T	FGF9	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1570655	NM_002010.3(FGF9):c.279C>A (p.Gly93=)	FGF9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 778450	NM_002010.3(FGF9):c.280A>G (p.Ile94Val)	FGF9 (I94V)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 311422	NM_002010.3(FGF9):c.283C>G (p.Leu95Val)	FGF9 (L95V)	Single nucleotide variant (missense variant)	Multiple synostoses syndrome 3 +1 more	GConflicting classifications of pathogenicity
Select item 8705	NM_002010.3(FGF9):c.296G>A (p.Ser99Asn)	FGF9 (S99N)	Single nucleotide variant (missense variant)	Multiple synostoses syndrome 3	GPathogenic
Select item 1557934	NM_002010.3(FGF9):c.327C>A (p.Gly109=)	FGF9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 311423	NM_002010.3(FGF9):c.327C>T (p.Gly109=)	FGF9	Single nucleotide variant (synonymous variant)	Multiple synostoses syndrome 3 +1 more	GBenign
Select item 2972726	NM_002010.3(FGF9):c.348C>T (p.Leu116=)	FGF9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2314211	NM_002010.3(FGF9):c.356A>G (p.Asn119Ser)	FGF9 (N119S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2123612	NM_002010.3(FGF9):c.363G>A (p.Lys121=)	FGF9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1636680	NM_002010.3(FGF9):c.369G>A (p.Glu123=)	FGF9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1174880	NM_002010.3(FGF9):c.381+17C>T	FGF9	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1268572	NM_002010.3(FGF9):c.381+116T>C	FGF9	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1228229	NM_002010.3(FGF9):c.382-202A>T	FGF9	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1287372	NM_002010.3(FGF9):c.382-136T>C	FGF9	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1225273	NM_002010.3(FGF9):c.382-119T>C	FGF9	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1994456	NM_002010.3(FGF9):c.383A>G (p.Glu128Gly)	FGF9 (E128G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1922628	NM_002010.3(FGF9):c.394C>G (p.Gln132Glu)	FGF9 (Q132E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1908716	NM_002010.3(FGF9):c.399G>A (p.Glu133=)	FGF9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 883651	NM_002010.3(FGF9):c.420C>T (p.Phe140=)	FGF9	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2741785	NM_002010.3(FGF9):c.421G>C (p.Glu141Gln)	FGF9 (E141Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1647881	NM_002010.3(FGF9):c.423A>G (p.Glu141=)	FGF9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2413189	NM_002010.3(FGF9):c.430T>C (p.Trp144Arg)	FGF9 (W144R)	Single nucleotide variant (missense variant)	Multiple synostoses syndrome 3	GLikely pathogenic
Select item 2859823	NM_002010.3(FGF9):c.440C>T (p.Thr147Met)	FGF9 (T147M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2133110	NM_002010.3(FGF9):c.446_447inv (p.Ser149Leu)	FGF9 (S149L)	Inversion (missense variant)	not provided	GUncertain significance
Select item 311424	NM_002010.3(FGF9):c.447A>G (p.Ser149=)	FGF9	Single nucleotide variant (synonymous variant)	Multiple synostoses syndrome 3 +1 more	GBenign
Select item 1373576	NM_002010.3(FGF9):c.465C>T (p.His155=)	FGF9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1642932	NM_002010.3(FGF9):c.468G>A (p.Val156=)	FGF9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2527216	NM_002010.3(FGF9):c.514C>T (p.Pro172Ser)	FGF9 (P172S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2173935	NM_002010.3(FGF9):c.516G>A (p.Pro172=)	FGF9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 311425	NM_002010.3(FGF9):c.516G>T (p.Pro172=)	FGF9	Single nucleotide variant (synonymous variant)	Multiple synostoses syndrome 3 +1 more	GBenign
Select item 2187124	NM_002010.3(FGF9):c.522A>G (p.Glu174=)	FGF9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1927389	NM_002010.3(FGF9):c.528T>C (p.Thr176=)	FGF9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2768461	NM_002010.3(FGF9):c.531G>A (p.Arg177=)	FGF9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1678668	NM_002010.3(FGF9):c.566C>G (p.Pro189Arg)	FGF9 (P189R)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 2904795	NM_002010.3(FGF9):c.583G>A (p.Asp195Asn)	FGF9 (D195N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

<< First< Prev

Page of 3