26244[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154258	GRCh38/hg38 3q11.1-24(chr3:93800620-145695381)x3	PDIA5, PHLDB2 +1344 more	Copy number gain	See cases	GPathogenic
Select item 155192	GRCh38/hg38 3q11.1-13.11(chr3:93819623-103888749)x3	LOC112935964, LOC112935965 +171 more	Copy number gain	See cases	GLikely pathogenic
Select item 145994	GRCh38/hg38 3q11.1-13.31(chr3:93819623-116887056)x1	ABHD10, ABI3BP +431 more	Copy number loss	See cases	GPathogenic
Select item 57803	GRCh38/hg38 3q11.1-21.1(chr3:93886671-123216683)x1	TRAT1, TRMT10C +638 more	Copy number loss	See cases	GPathogenic
Select item 2579175	GRCh38/hg38 3q11.1-21.2(chr3:93979547-124774010)x1	CCDC54-AS1, LOC123002328 +682 more	Copy number loss	Chromosome 3q13.31 deletion syndrome	GPathogenic
Select item 149128	GRCh38/hg38 3q11.2-13.31(chr3:97795369-115663349)x1	ABHD10, ABI3BP +398 more	Copy number loss	See cases	GPathogenic
Select item 145303	GRCh38/hg38 3q12.3(chr3:101596165-102374145)x3	CEP97, LOC101929411 +30 more	Copy number gain	See cases	GLikely benign
Select item 152904	GRCh38/hg38 3q12.3(chr3:101626311-101744959)x3	CEP97, LOC126806751 +9 more	Copy number gain	See cases	GUncertain significance
Select item 2152743	NM_024548.4(CEP97):c.14G>T (p.Arg5Leu)	CEP97, LOC129937160 (R5L)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2199941	NM_024548.4(CEP97):c.28T>C (p.Leu10=)	CEP97, LOC129937160	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2860438	NM_024548.4(CEP97):c.43+7C>T	CEP97, LOC129937160	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2099672	NM_024548.4(CEP97):c.43+7C>G	CEP97, LOC129937160	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1938388	NM_024548.4(CEP97):c.43+17C>T	CEP97, LOC129937160	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1988268	NM_024548.4(CEP97):c.44-13G>A	CEP97	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3143110	NM_024548.4(CEP97):c.55A>C (p.Asn19His)	CEP97 (N19H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2894741	NM_024548.4(CEP97):c.75A>G (p.Leu25=)	CEP97	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2074713	NM_024548.4(CEP97):c.88C>A (p.Pro30Thr)	CEP97 (P30T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3016467	NM_024548.4(CEP97):c.105del (p.Ala36fs)	CEP97 (A36fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 2061223	NM_024548.4(CEP97):c.117C>G (p.His39Gln)	CEP97 (H39Q)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 777375	NM_024548.4(CEP97):c.176G>A (p.Arg59Gln)	CEP97 (R59Q)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1967450	NM_024548.4(CEP97):c.186+3A>T	CEP97	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2976868	NM_024548.4(CEP97):c.187-20_187-19insTTT	CEP97	Insertion (intron variant)	not provided	GLikely benign
Select item 1575560	NM_024548.4(CEP97):c.187-17_187-16del	CEP97	Microsatellite (intron variant)	not provided	GBenign
Select item 2963049	NM_024548.4(CEP97):c.187-5T>C	CEP97	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2985842	NM_024548.4(CEP97):c.187-2A>T	CEP97	Single nucleotide variant (splice acceptor variant)	not provided	GUncertain significance
Select item 2104637	NM_024548.4(CEP97):c.187T>C (p.Leu63=)	CEP97	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 3143107	NM_024548.4(CEP97):c.205C>T (p.Arg69Trp)	CEP97 (R69W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2191528	NM_024548.4(CEP97):c.214C>T (p.Arg72Trp)	CEP97 (R72W)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2886424	NM_024548.4(CEP97):c.230C>T (p.Ala77Val)	CEP97 (A77V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1906256	NM_024548.4(CEP97):c.239C>T (p.Thr80Met)	CEP97 (T80M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2956099	NM_024548.4(CEP97):c.240G>A (p.Thr80=)	CEP97	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2891387	NM_024548.4(CEP97):c.249T>C (p.Arg83=)	CEP97	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2726246	NM_024548.4(CEP97):c.263C>T (p.Pro88Leu)	CEP97 (P88L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2147697	NM_024548.4(CEP97):c.265C>T (p.His89Tyr)	CEP97 (H89Y)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2236157	NM_024548.4(CEP97):c.277G>A (p.Gly93Ser)	CEP97 (G93S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2995112	NM_024548.4(CEP97):c.307C>T (p.His103Tyr)	CEP97 (H103Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1661096	NM_024548.4(CEP97):c.310C>T (p.Leu104=)	CEP97	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2256745	NM_024548.4(CEP97):c.368G>A (p.Cys123Tyr)	CEP97 (C123Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3266298	NM_024548.4(CEP97):c.380A>G (p.Gln127Arg)	CEP97 (Q127R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2913474	NM_024548.4(CEP97):c.387C>T (p.Leu129=)	CEP97	Single nucleotide variant (intron variant +1 more)	not provided	GLikely benign
Select item 2416910	NM_024548.4(CEP97):c.447+4_447+7del	CEP97	Microsatellite (splice donor variant)	not provided	GUncertain significance
Select item 2001276	NM_024548.4(CEP97):c.447+9G>T	CEP97	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2974604	NM_024548.4(CEP97):c.447+14_447+17del	CEP97	Deletion (intron variant)	not provided	GLikely benign
Select item 2835688	NM_024548.4(CEP97):c.447+12T>C	CEP97	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2998007	NM_024548.4(CEP97):c.471C>T (p.Ile157=)	CEP97	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2155199	NM_024548.4(CEP97):c.481C>T (p.Leu161Phe)	CEP97 (L127F +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2804727	NM_024548.4(CEP97):c.511A>G (p.Ser171Gly)	CEP97 (S171G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1947470	NM_024548.4(CEP97):c.520A>G (p.Ile174Val)	CEP97 (I140V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2975466	NM_024548.4(CEP97):c.525T>G (p.Leu175=)	CEP97	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1942218	NM_024548.4(CEP97):c.530T>A (p.Leu177Ter)	CEP97 (L143* +1 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 1908189	NM_024548.4(CEP97):c.532G>A (p.Ala178Thr)	CEP97 (A144T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2194865	NM_024548.4(CEP97):c.534A>C (p.Ala178=)	CEP97	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2031808	NM_024548.4(CEP97):c.550G>A (p.Asp184Asn)	CEP97 (D184N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1919274	NM_024548.4(CEP97):c.561+13G>T	CEP97	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2488343	NM_024548.4(CEP97):c.602C>T (p.Ser201Leu)	CEP97 (S167L +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2073133	NM_024548.4(CEP97):c.603G>A (p.Ser201=)	CEP97	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1540072	NM_024548.4(CEP97):c.603G>C (p.Ser201=)	CEP97	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1956508	NM_024548.4(CEP97):c.641T>C (p.Ile214Thr)	CEP97 (I180T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2986482	NM_024548.4(CEP97):c.656A>G (p.Tyr219Cys)	CEP97 (Y219C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2915913	NM_024548.4(CEP97):c.660G>A (p.Arg220=)	CEP97	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3021459	NM_024548.4(CEP97):c.663G>A (p.Pro221=)	CEP97	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2167285	NM_024548.4(CEP97):c.663G>T (p.Pro221=)	CEP97	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2046500	NM_024548.4(CEP97):c.669C>T (p.Ile223=)	CEP97	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2084415	NM_024548.4(CEP97):c.690C>G (p.Leu230=)	CEP97	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2049909	NM_024548.4(CEP97):c.713T>C (p.Ile238Thr)	CEP97 (I204T +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2186851	NM_024548.4(CEP97):c.728+7_728+8del	CEP97	Deletion (intron variant)	not provided	GLikely benign
Select item 2019803	NM_024548.4(CEP97):c.728+17T>C	CEP97	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1906281	NM_024548.4(CEP97):c.729-11C>A	CEP97	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1945726	NM_024548.4(CEP97):c.775C>T (p.Arg259Trp)	CEP97 (R225W +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2994886	NM_024548.4(CEP97):c.776G>A (p.Arg259Gln)	CEP97 (R225Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2742021	NM_024548.4(CEP97):c.777G>A (p.Arg259=)	CEP97	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2136641	NM_024548.4(CEP97):c.780T>A (p.Pro260=)	CEP97	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2978496	NM_024548.4(CEP97):c.787C>A (p.His263Asn)	CEP97 (H229N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2122072	NM_024548.4(CEP97):c.799G>T (p.Val267Phe)	CEP97 (V233F +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2879142	NM_024548.4(CEP97):c.809T>C (p.Leu270Pro)	CEP97 (L270P +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2198693	NM_024548.4(CEP97):c.811G>A (p.Ala271Thr)	CEP97 (A237T +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2964627	NM_024548.4(CEP97):c.829A>T (p.Thr277Ser)	CEP97 (T243S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2183207	NM_024548.4(CEP97):c.839T>C (p.Leu280Pro)	CEP97 (L246P +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1601501	NM_024548.4(CEP97):c.840A>T (p.Leu280=)	CEP97	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 2707382	NM_024548.4(CEP97):c.853G>A (p.Ala285Thr)	CEP97 (A251T +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2173877	NM_024548.4(CEP97):c.884G>A (p.Ser295Asn)	CEP97 (S261N +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2861317	NM_024548.4(CEP97):c.893+7C>G	CEP97	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2782443	NM_024548.4(CEP97):c.893+7C>T	CEP97	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2767637	NM_024548.4(CEP97):c.894-17G>A	CEP97	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1977317	NM_024548.4(CEP97):c.898C>T (p.His300Tyr)	CEP97 (H266Y +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1976801	NM_024548.4(CEP97):c.909G>A (p.Gln303=)	CEP97	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2965916	NM_024548.4(CEP97):c.915G>A (p.Met305Ile)	CEP97 (M271I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2310034	NM_024548.4(CEP97):c.924C>A (p.Ser308Arg)	CEP97 (S274R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3012450	NM_024548.4(CEP97):c.937T>C (p.Leu313=)	CEP97	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1621546	NM_024548.4(CEP97):c.955G>C (p.Val319Leu)	CEP97 (V319L)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2190179	NM_024548.4(CEP97):c.964A>G (p.Arg322Gly)	CEP97 (R288G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2065306	NM_024548.4(CEP97):c.1006T>C (p.Cys336Arg)	CEP97 (C302R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2287653	NM_024548.4(CEP97):c.1010A>C (p.Gln337Pro)	CEP97 (Q337P +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2956196	NM_024548.4(CEP97):c.1028-13T>C	CEP97	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2071650	NM_024548.4(CEP97):c.1031C>T (p.Pro344Leu)	CEP97 (P310L +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2236406	NM_024548.4(CEP97):c.1033G>A (p.Val345Ile)	CEP97 (V345I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2895714	NM_024548.4(CEP97):c.1066A>T (p.Ser356Cys)	CEP97 (S356C +1 more)	Single nucleotide variant (intron variant +1 more)	not provided	GUncertain significance
Select item 1937052	NM_024548.4(CEP97):c.1073A>C (p.Asp358Ala)	CEP97 (D358A +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2895715	NM_024548.4(CEP97):c.1079A>G (p.Gln360Arg)	CEP97 (Q360R +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2969738	NM_024548.4(CEP97):c.1088C>T (p.Ala363Val)	CEP97 (A363V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance

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