22954[geneid] - ClinVar - NCBI

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

Search results

Items: 1 to 100 of 749

<< First< Prev

Page of 8

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 160862	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC130001537, LOC130001538 +3785 more	Copy number gain	See cases	GPathogenic
Select item 150340	GRCh38/hg38 9p11.2-q34.3(chr9:193412-138159073)x3	LOC130002976, LOC130002977 +3784 more	Copy number gain	See cases	GPathogenic
Select item 150050	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138159073)x3	LOC130001468, LOC130001469 +3785 more	Copy number gain	See cases	GPathogenic
Select item 149828	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124524)x3	DNAJB5, DNAJB5-DT +3785 more	Copy number gain	See cases	GPathogenic
Select item 59875	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138114463)x3	LOC114827838, LOC116186936 +3785 more	Copy number gain	See cases	GPathogenic
Select item 33205	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC124252641, LOC124252642 +3785 more	Copy number gain	See cases	GPathogenic
Select item 153518	GRCh38/hg38 9p24.3-q34.3(chr9:203861-138125937)x3	LOC114022701, LOC114022702 +3785 more	Copy number gain	See cases	GPathogenic
Select item 155409	GRCh38/hg38 9p24.3-q34.3(chr9:203862-138125937)x3	ABCA1, ABCA2 +3785 more	Copy number gain	See cases	GPathogenic
Select item 144309	GRCh38/hg38 9p24.3-q34.3(chr9:204193-138179445)	LOC110120726, LOC110120727 +3785 more	Copy number gain	See cases	GPathogenic
Select item 152171	GRCh38/hg38 9q31.2-33.1(chr9:107530314-117965944)x1	PALM2AKAP2, PAPPA +377 more	Copy number loss	See cases	GPathogenic
Select item 150594	GRCh38/hg38 9q33.1(chr9:116328021-117227757)x1	ASTN2, ASTN2-AS1 +18 more	Copy number loss	See cases	GUncertain significance
Select item 221731	GRCh38/hg38 9q33.1(chr9:116522866-117041655)x1	ASTN2, ASTN2-AS1 +9 more	Copy number loss	Premature ovarian failure	GUncertain significance
Select item 155655	GRCh38/hg38 9q33.1(chr9:116587616-116809939)x1	ASTN2, LOC130002464 +3 more	Copy number loss	See cases	GUncertain significance
Select item 58483	GRCh38/hg38 9q33.1(chr9:116588311-117510401)x3	ASTN2, LOC126860748 +6 more	Copy number gain	See cases	GUncertain significance
Select item 545375	NC_000009.12:g.(?_116634744)_(116742416_?)del	ASTN2, LOC130002464 +3 more	Deletion	Schizophrenia	GLikely pathogenic
Select item 144201	GRCh38/hg38 9q33.1(chr9:116657193-116814307)x1	ASTN2, LOC130002464 +3 more	Copy number loss	See cases	GUncertain significance
Select item 2499667	GRCh38/hg38 9q33.1(chr9:116667613-116806157)	ASTN2, LOC130002464 +3 more	Copy number loss	See cases	GUncertain significance
Select item 545377	NC_000009.12:g.(?_116683530)_(116876208_?)del	ASTN2, LOC130002464 +3 more	Deletion	Schizophrenia	GLikely pathogenic
Select item 545376	NC_000009.12:g.(?_116683530)_(116733612_?)del	LOC130002465, LOC130002466 +3 more	Deletion	Schizophrenia	GLikely pathogenic
Select item 1195170	NM_001365068.1(ASTN2):c.2807-35435C>A	ASTN2, LOC130002464 +1 more	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 912761	NM_012210.4(TRIM32):c.-143C>T	TRIM32, ASTN2	Single nucleotide variant (5 prime UTR variant +1 more)	Bardet-Biedl syndrome 11 +1 more	GUncertain significance
Select item 364712	NM_012210.4(TRIM32):c.-133G>C	ASTN2, TRIM32	Single nucleotide variant (5 prime UTR variant +1 more)	Bardet-Biedl syndrome 11 +2 more	GBenign
Select item 364713	NM_012210.4(TRIM32):c.-124G>A	TRIM32, ASTN2	Single nucleotide variant (5 prime UTR variant +1 more)	Bardet-Biedl syndrome 11 +1 more	GUncertain significance
Select item 364714	NM_012210.4(TRIM32):c.-109T>C	ASTN2, TRIM32	Single nucleotide variant (5 prime UTR variant +1 more)	Bardet-Biedl syndrome 11 +1 more	GUncertain significance
Select item 511757	NM_012210.4(TRIM32):c.-94C>T	ASTN2, LOC130002465 +1 more	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GLikely benign
Select item 1220919	NM_012210.4(TRIM32):c.-82+86C>T	ASTN2, LOC130002465 +1 more	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1188514	NM_012210.4(TRIM32):c.-81-291A>G	ASTN2, TRIM32	Single nucleotide variant (intron variant +1 more)	not provided	GLikely benign
Select item 674433	NM_012210.4(TRIM32):c.-81-98G>A	ASTN2, TRIM32	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 462941	NC_000009.12:g.(?_116697723)_(116699724_?)del	ASTN2, TRIM32	Deletion	Bardet-Biedl syndrome	GPathogenic
Select item 3029594	NM_012210.4(TRIM32):c.-6A>G	ASTN2, TRIM32	Single nucleotide variant (5 prime UTR variant +1 more)	TRIM32-related condition	GLikely benign
Select item 282304	NM_012210.4(TRIM32):c.-5G>A	ASTN2, TRIM32	Single nucleotide variant (5 prime UTR variant +1 more)	TRIM32-related condition +1 more	GConflicting classifications of pathogenicity
Select item 284296	NM_012210.4(TRIM32):c.6T>G (p.Ala2=)	ASTN2, TRIM32	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2150451	NM_012210.4(TRIM32):c.11C>T (p.Ala4Val)	ASTN2, TRIM32 (A4V)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome	GUncertain significance
Select item 1079319	NM_012210.4(TRIM32):c.15A>C (p.Ala5=)	ASTN2, TRIM32	Single nucleotide variant (synonymous variant +1 more)	Bardet-Biedl syndrome	GLikely benign
Select item 2171515	NM_012210.4(TRIM32):c.20C>T (p.Ser7Phe)	ASTN2, TRIM32 (S7F)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome +1 more	GUncertain significance
Select item 2769381	NM_012210.4(TRIM32):c.21T>A (p.Ser7=)	ASTN2, TRIM32	Single nucleotide variant (synonymous variant +1 more)	Bardet-Biedl syndrome	GLikely benign
Select item 288819	NM_012210.4(TRIM32):c.24C>A (p.His8Gln)	TRIM32, ASTN2 (H8Q)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2987058	NM_012210.4(TRIM32):c.27G>T (p.Leu9=)	ASTN2, TRIM32	Single nucleotide variant (synonymous variant +1 more)	Bardet-Biedl syndrome	GLikely benign
Select item 2913518	NM_012210.4(TRIM32):c.27G>A (p.Leu9=)	ASTN2, TRIM32	Single nucleotide variant (synonymous variant +1 more)	Bardet-Biedl syndrome	GLikely benign
Select item 364715	NM_012210.4(TRIM32):c.27G>C (p.Leu9=)	ASTN2, TRIM32	Single nucleotide variant (intron variant +1 more)	Bardet-Biedl syndrome 11 +2 more	GConflicting classifications of pathogenicity
Select item 864083	NM_012210.4(TRIM32):c.32T>C (p.Leu11Pro)	ASTN2, TRIM32 (L11P)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +4 more	GUncertain significance
Select item 1312887	NM_012210.4(TRIM32):c.40C>G (p.Leu14Val)	ASTN2, TRIM32 (L14V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 934355	NM_012210.4(TRIM32):c.40C>T (p.Leu14Phe)	ASTN2, TRIM32 (L14F)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome	GUncertain significance
Select item 2861656	NM_012210.4(TRIM32):c.42C>A (p.Leu14=)	ASTN2, TRIM32	Single nucleotide variant (synonymous variant +1 more)	Bardet-Biedl syndrome	GLikely benign
Select item 653096	NM_012210.4(TRIM32):c.43C>T (p.Arg15Trp)	ASTN2, TRIM32 (R15W)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 597474	NM_012210.4(TRIM32):c.44G>A (p.Arg15Gln)	TRIM32, ASTN2 (R15Q)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome +1 more	GUncertain significance
Select item 947124	NM_012210.4(TRIM32):c.55G>C (p.Glu19Gln)	ASTN2, TRIM32 (E19Q)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome	GUncertain significance
Select item 2133643	NM_012210.4(TRIM32):c.56A>C (p.Glu19Ala)	ASTN2, TRIM32 (E19A)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome	GUncertain significance
Select item 2038031	NM_012210.4(TRIM32):c.57A>G (p.Glu19=)	ASTN2, TRIM32	Single nucleotide variant (synonymous variant +1 more)	Bardet-Biedl syndrome	GLikely benign
Select item 364716	NM_012210.4(TRIM32):c.69C>T (p.Cys23=)	ASTN2, TRIM32	Single nucleotide variant (synonymous variant +1 more)	TRIM32-related condition +3 more	GConflicting classifications of pathogenicity
Select item 1705156	NM_012210.4(TRIM32):c.73G>T (p.Glu25Ter)	ASTN2, TRIM32 (E25*)	Single nucleotide variant (nonsense +1 more)	Autosomal recessive limb-girdle muscular dystrophy	GLikely pathogenic
Select item 1007266	NM_012210.4(TRIM32):c.75G>C (p.Glu25Asp)	ASTN2, TRIM32 (E25D)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome	GUncertain significance
Select item 1447219	NM_012210.4(TRIM32):c.86A>G (p.Glu29Gly)	ASTN2, TRIM32 (E29G)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome	GUncertain significance
Select item 290216	NM_012210.4(TRIM32):c.90G>A (p.Glu30=)	ASTN2, TRIM32	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 851419	NM_012210.4(TRIM32):c.97C>T (p.Arg33Cys)	ASTN2, TRIM32 (R33C)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 284679	NM_012210.4(TRIM32):c.98G>A (p.Arg33His)	ASTN2, TRIM32 (R33H)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome 11 +2 more	GUncertain significance
Select item 1077195	NM_012210.4(TRIM32):c.99T>C (p.Arg33=)	ASTN2, TRIM32	Single nucleotide variant (synonymous variant +1 more)	TRIM32-related condition +1 more	GLikely benign
Select item 2820674	NM_012210.4(TRIM32):c.111G>A (p.Leu37=)	ASTN2, TRIM32	Single nucleotide variant (synonymous variant +1 more)	Bardet-Biedl syndrome	GLikely benign
Select item 1305942	NM_012210.4(TRIM32):c.112C>T (p.His38Tyr)	ASTN2, TRIM32 (H38Y)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1135374	NM_012210.4(TRIM32):c.114C>T (p.His38=)	ASTN2, TRIM32	Single nucleotide variant (synonymous variant +1 more)	Bardet-Biedl syndrome	GLikely benign
Select item 497359	NM_012210.4(TRIM32):c.116_122del (p.Cys39fs)	ASTN2, TRIM32 (C39fs)	Deletion (frameshift variant +1 more)	not provided	GLikely pathogenic
Select item 999875	NM_012210.4(TRIM32):c.119G>C (p.Gly40Ala)	ASTN2, TRIM32 (G40A)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome	GUncertain significance
Select item 448704	NM_012210.4(TRIM32):c.127A>G (p.Ile43Val)	ASTN2, TRIM32 (I43V)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome +5 more	GUncertain significance
Select item 1060191	NM_012210.4(TRIM32):c.133C>T (p.Arg45Cys)	ASTN2, TRIM32 (R45C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +3 more	GUncertain significance
Select item 1363356	NM_012210.4(TRIM32):c.134G>A (p.Arg45His)	ASTN2, TRIM32 (R45H)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome 11 +2 more	GUncertain significance
Select item 1398938	NM_012210.4(TRIM32):c.136C>G (p.Gln46Glu)	ASTN2, TRIM32 (Q46E)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome	GUncertain significance
Select item 2156529	NM_012210.4(TRIM32):c.137A>G (p.Gln46Arg)	ASTN2, TRIM32 (Q46R)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome	GUncertain significance
Select item 2221487	NM_012210.4(TRIM32):c.138G>C (p.Gln46His)	ASTN2, TRIM32 (Q46H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2139942	NM_012210.4(TRIM32):c.141C>T (p.Cys47=)	ASTN2, TRIM32	Single nucleotide variant (synonymous variant +1 more)	Bardet-Biedl syndrome	GLikely benign
Select item 2099498	NM_012210.4(TRIM32):c.147G>A (p.Glu49=)	ASTN2, TRIM32	Single nucleotide variant (synonymous variant +1 more)	Bardet-Biedl syndrome	GLikely benign
Select item 2155937	NM_012210.4(TRIM32):c.149A>C (p.Lys50Thr)	ASTN2, TRIM32 (K50T)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome	GUncertain significance
Select item 1619665	NM_012210.4(TRIM32):c.153A>G (p.Leu51=)	ASTN2, TRIM32	Single nucleotide variant (synonymous variant +1 more)	Bardet-Biedl syndrome +1 more	GLikely benign
Select item 2988750	NM_012210.4(TRIM32):c.154T>C (p.Leu52=)	ASTN2, TRIM32	Single nucleotide variant (intron variant +1 more)	Bardet-Biedl syndrome	GLikely benign
Select item 1641153	NM_012210.4(TRIM32):c.159C>T (p.Ala53=)	ASTN2, TRIM32	Single nucleotide variant (synonymous variant +1 more)	Bardet-Biedl syndrome	GLikely benign
Select item 571462	NM_012210.4(TRIM32):c.164G>T (p.Ser55Ile)	ASTN2, TRIM32 (S55I)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 953428	NM_012210.4(TRIM32):c.176T>C (p.Val59Ala)	ASTN2, TRIM32 (V59A)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome	GUncertain significance
Select item 1501814	NM_012210.4(TRIM32):c.178C>A (p.Arg60Ser)	TRIM32, ASTN2 (R60S)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome	GUncertain significance
Select item 1408726	NM_012210.4(TRIM32):c.179G>T (p.Arg60Leu)	ASTN2, TRIM32 (R60L)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome	GUncertain significance
Select item 1054865	NM_012210.4(TRIM32):c.179G>A (p.Arg60His)	TRIM32, ASTN2 (R60H)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome	GUncertain significance
Select item 2693150	NM_012210.4(TRIM32):c.186C>T (p.Pro62=)	ASTN2, TRIM32	Single nucleotide variant (synonymous variant +1 more)	Bardet-Biedl syndrome	GLikely benign
Select item 2784570	NM_012210.4(TRIM32):c.190del (p.Cys64fs)	ASTN2, TRIM32 (C64fs)	Deletion (frameshift variant +1 more)	Bardet-Biedl syndrome	GPathogenic
Select item 1024915	NM_012210.4(TRIM32):c.188T>C (p.Phe63Ser)	TRIM32, ASTN2 (F63S)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome	GUncertain significance
Select item 437053	NM_012210.4(TRIM32):c.196_205del (p.Lys66fs)	ASTN2, TRIM32 (K66fs)	Deletion (frameshift variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 2811384	NM_012210.4(TRIM32):c.201del (p.Thr68fs)	ASTN2, TRIM32 (T68fs)	Deletion (frameshift variant +1 more)	Bardet-Biedl syndrome	GPathogenic
Select item 282441	NM_012210.4(TRIM32):c.201T>C (p.Ile67=)	ASTN2, TRIM32	Single nucleotide variant (synonymous variant +1 more)	TRIM32-related condition +2 more	GConflicting classifications of pathogenicity
Select item 963499	NM_012210.4(TRIM32):c.206G>A (p.Arg69His)	ASTN2, TRIM32 (R69H)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome +3 more	GUncertain significance
Select item 497898	NM_012210.4(TRIM32):c.207C>T (p.Arg69=)	ASTN2, TRIM32	Single nucleotide variant (synonymous variant +1 more)	not provided	GUncertain significance
Select item 1461873	NM_012210.4(TRIM32):c.212C>T (p.Thr71Ile)	ASTN2, TRIM32 (T71I)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome	GUncertain significance
Select item 1586323	NM_012210.4(TRIM32):c.213C>T (p.Thr71=)	ASTN2, TRIM32	Single nucleotide variant (synonymous variant +1 more)	Bardet-Biedl syndrome	GLikely benign
Select item 1140961	NM_012210.4(TRIM32):c.216C>T (p.Ser72=)	ASTN2, TRIM32	Single nucleotide variant (synonymous variant +1 more)	Bardet-Biedl syndrome 11 +2 more	GLikely benign
Select item 2797323	NM_012210.4(TRIM32):c.217T>C (p.Leu73=)	ASTN2, TRIM32	Single nucleotide variant (synonymous variant +1 more)	Bardet-Biedl syndrome	GLikely benign
Select item 2764711	NM_012210.4(TRIM32):c.222C>T (p.Thr74=)	ASTN2, TRIM32	Single nucleotide variant (synonymous variant +1 more)	Bardet-Biedl syndrome	GLikely benign
Select item 2780044	NM_012210.4(TRIM32):c.232_235del (p.Asp78fs)	ASTN2, TRIM32 (D78fs)	Microsatellite (frameshift variant +1 more)	Bardet-Biedl syndrome	GPathogenic
Select item 834797	NM_012210.4(TRIM32):c.232G>A (p.Asp78Asn)	ASTN2, TRIM32 (D78N)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome	GUncertain significance
Select item 2132190	NM_012210.4(TRIM32):c.236A>T (p.Asn79Ile)	ASTN2, TRIM32 (N79I)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome	GUncertain significance
Select item 860141	NM_012210.4(TRIM32):c.236A>G (p.Asn79Ser)	ASTN2, TRIM32 (N79S)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome	GUncertain significance
Select item 290913	NM_012210.4(TRIM32):c.238C>T (p.Leu80=)	ASTN2, TRIM32	Single nucleotide variant (synonymous variant +1 more)	Bardet-Biedl syndrome +3 more	GConflicting classifications of pathogenicity
Select item 2954868	NM_012210.4(TRIM32):c.240G>C (p.Leu80=)	ASTN2, TRIM32	Single nucleotide variant (intron variant +1 more)	Bardet-Biedl syndrome	GLikely benign
Select item 2900160	NM_012210.4(TRIM32):c.242C>T (p.Thr81Ile)	ASTN2, TRIM32 (T81I)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome	GUncertain significance
Select item 2911041	NM_012210.4(TRIM32):c.243A>G (p.Thr81=)	ASTN2, TRIM32	Single nucleotide variant (synonymous variant +1 more)	Bardet-Biedl syndrome	GLikely benign

<< First< Prev

Page of 8