256764[geneid] - ClinVar - NCBI

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

Search results

Items: 1 to 100 of 364

<< First< Prev

Page of 4

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 57881	GRCh38/hg38 15q21.2-22.2(chr15:50864913-59646577)x1	ADAM10, ALDH1A2 +287 more	Copy number loss	See cases	GPathogenic
Select item 147481	GRCh38/hg38 15q21.2-21.3(chr15:51276690-57088386)x1	ARPP19, ATOSA +176 more	Copy number loss	See cases	GPathogenic
Select item 17824	NC_000015.10:g.(51338597_?)_(?_57376504)inv	LOC105370829, LOC108281154 +179 more	Inversion	Aromatase excess syndrome	GPathogenic
Select item 316484	NM_182758.4(WDR72):c.*3936G>A	WDR72	Single nucleotide variant (3 prime UTR variant +1 more)	Amelogenesis Imperfecta, Recessive +1 more	GLikely benign
Select item 316485	NM_182758.4(WDR72):c.*3852T>G	WDR72	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GUncertain significance
Select item 886397	NM_182758.4(WDR72):c.*3810T>A	WDR72	Single nucleotide variant (3 prime UTR variant +1 more)	Amelogenesis imperfecta hypomaturation type 2A3	GUncertain significance
Select item 316486	NM_182758.4(WDR72):c.*3742G>C	WDR72	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GLikely benign
Select item 316487	NM_182758.4(WDR72):c.*3734A>G	WDR72	Single nucleotide variant (3 prime UTR variant +1 more)	Amelogenesis imperfecta hypomaturation type 2A3	GLikely benign
Select item 887397	NM_182758.4(WDR72):c.*3691G>T	WDR72	Single nucleotide variant (3 prime UTR variant +1 more)	Amelogenesis imperfecta hypomaturation type 2A3	GUncertain significance
Select item 316488	NM_182758.4(WDR72):c.*3689A>G	WDR72	Single nucleotide variant (3 prime UTR variant +1 more)	Amelogenesis imperfecta hypomaturation type 2A3	GLikely benign
Select item 316489	NM_182758.4(WDR72):c.*3650A>G	WDR72	Single nucleotide variant (3 prime UTR variant +1 more)	Amelogenesis imperfecta hypomaturation type 2A3	GUncertain significance
Select item 887398	NM_182758.4(WDR72):c.*3627C>T	WDR72	Single nucleotide variant (3 prime UTR variant +1 more)	Amelogenesis imperfecta hypomaturation type 2A3	GUncertain significance
Select item 316490	NM_182758.4(WDR72):c.*3594A>C	WDR72	Single nucleotide variant (3 prime UTR variant +1 more)	Amelogenesis imperfecta hypomaturation type 2A3	GUncertain significance
Select item 887399	NM_182758.4(WDR72):c.*3592A>G	WDR72	Single nucleotide variant (3 prime UTR variant +1 more)	Amelogenesis imperfecta hypomaturation type 2A3	GLikely benign
Select item 316491	NM_182758.4(WDR72):c.*3575T>C	WDR72	Single nucleotide variant (3 prime UTR variant +1 more)	Amelogenesis imperfecta hypomaturation type 2A3	GLikely benign
Select item 316492	NM_182758.4(WDR72):c.*3514G>T	WDR72	Single nucleotide variant (3 prime UTR variant +1 more)	Amelogenesis imperfecta hypomaturation type 2A3	GUncertain significance
Select item 316493	NM_182758.4(WDR72):c.*3511A>G	WDR72	Single nucleotide variant (3 prime UTR variant +1 more)	Amelogenesis imperfecta hypomaturation type 2A3	GUncertain significance
Select item 316494	NM_182758.4(WDR72):c.*3470C>T	WDR72	Single nucleotide variant (3 prime UTR variant +1 more)	Amelogenesis imperfecta hypomaturation type 2A3	GUncertain significance
Select item 887583	NM_182758.4(WDR72):c.*3459C>T	WDR72	Single nucleotide variant (3 prime UTR variant +1 more)	Amelogenesis imperfecta hypomaturation type 2A3	GUncertain significance
Select item 316495	NM_182758.4(WDR72):c.*3433G>A	WDR72	Single nucleotide variant (3 prime UTR variant +1 more)	Amelogenesis imperfecta hypomaturation type 2A3	GLikely benign
Select item 316496	NM_182758.4(WDR72):c.*3423A>C	WDR72	Single nucleotide variant (3 prime UTR variant +1 more)	Amelogenesis imperfecta hypomaturation type 2A3	GBenign
Select item 887584	NM_182758.4(WDR72):c.*3334A>G	WDR72	Single nucleotide variant (3 prime UTR variant +1 more)	Amelogenesis imperfecta hypomaturation type 2A3	GUncertain significance
Select item 887585	NM_182758.4(WDR72):c.*3325G>A	WDR72	Single nucleotide variant (3 prime UTR variant +1 more)	Amelogenesis imperfecta hypomaturation type 2A3	GLikely benign
Select item 884439	NM_182758.4(WDR72):c.*3225T>G	WDR72	Single nucleotide variant (3 prime UTR variant +1 more)	Amelogenesis imperfecta hypomaturation type 2A3	GBenign
Select item 316497	NM_182758.4(WDR72):c.*3164T>C	WDR72	Single nucleotide variant (3 prime UTR variant +1 more)	Amelogenesis Imperfecta, Recessive	GLikely benign
Select item 884440	NM_182758.4(WDR72):c.*3128G>A	WDR72	Single nucleotide variant (3 prime UTR variant +1 more)	Amelogenesis imperfecta hypomaturation type 2A3	GUncertain significance
Select item 316498	NM_182758.4(WDR72):c.*3126T>C	WDR72	Single nucleotide variant (3 prime UTR variant +1 more)	Amelogenesis imperfecta hypomaturation type 2A3	GUncertain significance
Select item 316499	NM_182758.4(WDR72):c.*3114A>G	WDR72	Single nucleotide variant (3 prime UTR variant +1 more)	Amelogenesis Imperfecta, Recessive +1 more	GLikely benign
Select item 884441	NM_182758.4(WDR72):c.*3016G>A	WDR72	Single nucleotide variant (3 prime UTR variant +1 more)	Amelogenesis imperfecta hypomaturation type 2A3	GUncertain significance
Select item 316500	NM_182758.4(WDR72):c.*2955A>G	WDR72	Single nucleotide variant (3 prime UTR variant +1 more)	Amelogenesis imperfecta hypomaturation type 2A3	GUncertain significance
Select item 885368	NM_182758.4(WDR72):c.*2947A>T	WDR72	Single nucleotide variant (3 prime UTR variant +1 more)	Amelogenesis imperfecta hypomaturation type 2A3	GLikely benign
Select item 316501	NM_182758.4(WDR72):c.*2919T>G	WDR72	Single nucleotide variant (3 prime UTR variant +1 more)	Amelogenesis imperfecta hypomaturation type 2A3	GUncertain significance
Select item 316502	NM_182758.4(WDR72):c.*2849G>T	WDR72	Single nucleotide variant (3 prime UTR variant +1 more)	Amelogenesis Imperfecta, Recessive	GUncertain significance
Select item 316503	NM_182758.4(WDR72):c.*2808G>T	WDR72	Single nucleotide variant (3 prime UTR variant +1 more)	Amelogenesis Imperfecta, Recessive +1 more	GBenign
Select item 316504	NM_182758.4(WDR72):c.*2785G>A	WDR72	Single nucleotide variant (3 prime UTR variant +1 more)	Amelogenesis imperfecta hypomaturation type 2A3	GUncertain significance
Select item 887464	NM_182758.4(WDR72):c.*2766G>C	WDR72	Single nucleotide variant (3 prime UTR variant +1 more)	Amelogenesis imperfecta hypomaturation type 2A3	GUncertain significance
Select item 316505	NM_182758.4(WDR72):c.2739_2742dup	WDR72	Duplication (3 prime UTR variant +1 more)	Amelogenesis Imperfecta, Recessive	GUncertain significance
Select item 316509	NM_182758.4(WDR72):c.*2675AT[12]	WDR72	Microsatellite (3 prime UTR variant +1 more)	Amelogenesis Imperfecta, Recessive	GUncertain significance
Select item 316508	NM_182758.4(WDR72):c.*2675AT[11]	WDR72	Microsatellite (3 prime UTR variant +1 more)	Amelogenesis Imperfecta, Recessive +1 more	GUncertain significance
Select item 316507	NM_182758.4(WDR72):c.*2675AT[10]	WDR72	Microsatellite (3 prime UTR variant +1 more)	Amelogenesis Imperfecta, Recessive	GUncertain significance
Select item 316506	NM_182758.4(WDR72):c.*2675AT[9]	WDR72	Microsatellite (3 prime UTR variant +1 more)	Amelogenesis Imperfecta, Recessive +1 more	GUncertain significance
Select item 316510	NM_182758.4(WDR72):c.2676_2677insGT	WDR72	Insertion (3 prime UTR variant +1 more)	Amelogenesis Imperfecta, Recessive	GUncertain significance
Select item 316512	NM_182758.4(WDR72):c.2674_2675insGTATAT	WDR72	Microsatellite (3 prime UTR variant +1 more)	Amelogenesis Imperfecta, Recessive	GUncertain significance
Select item 316511	NM_182758.4(WDR72):c.*2675A>G	WDR72	Single nucleotide variant (3 prime UTR variant +1 more)	Amelogenesis Imperfecta, Recessive +1 more	GLikely benign
Select item 316513	NM_182758.4(WDR72):c.*2673G>A	WDR72	Single nucleotide variant (3 prime UTR variant +1 more)	Amelogenesis Imperfecta, Recessive	GUncertain significance
Select item 887465	NM_182758.4(WDR72):c.*2671G>C	WDR72	Single nucleotide variant (3 prime UTR variant +1 more)	Amelogenesis imperfecta hypomaturation type 2A3	GUncertain significance
Select item 316514	NM_182758.4(WDR72):c.*2667A>G	WDR72	Single nucleotide variant (3 prime UTR variant +1 more)	Amelogenesis Imperfecta, Recessive	GUncertain significance
Select item 316517	NM_182758.4(WDR72):c.2657_2658insTACACATATATATGTGTGTATATATATACACACATATATATA	WDR72	Microsatellite (non-coding transcript variant +1 more)	Amelogenesis Imperfecta, Recessive	GUncertain significance
Select item 316515	NM_182758.4(WDR72):c.*2650TA[5]	WDR72	Microsatellite (3 prime UTR variant +1 more)	not provided +1 more	GUncertain significance
Select item 887647	NM_182758.4(WDR72):c.*2650T>C	WDR72	Single nucleotide variant (3 prime UTR variant +1 more)	Amelogenesis imperfecta hypomaturation type 2A3	GUncertain significance
Select item 887648	NM_182758.4(WDR72):c.*2648C>T	WDR72	Single nucleotide variant (3 prime UTR variant +1 more)	Amelogenesis imperfecta hypomaturation type 2A3	GUncertain significance
Select item 316516	NM_182758.4(WDR72):c.*2644C>T	WDR72	Single nucleotide variant (3 prime UTR variant +1 more)	Amelogenesis Imperfecta, Recessive	GUncertain significance
Select item 887649	NM_182758.4(WDR72):c.*2642T>C	WDR72	Single nucleotide variant (3 prime UTR variant +1 more)	Amelogenesis imperfecta hypomaturation type 2A3	GUncertain significance
Select item 316518	NM_182758.4(WDR72):c.*2633G>A	WDR72	Single nucleotide variant (3 prime UTR variant +1 more)	Amelogenesis Imperfecta, Recessive	GUncertain significance
Select item 316519	NM_182758.4(WDR72):c.*2622T>C	WDR72	Single nucleotide variant (3 prime UTR variant +1 more)	Amelogenesis Imperfecta, Recessive	GUncertain significance
Select item 884499	NM_182758.4(WDR72):c.*2620C>T	WDR72	Single nucleotide variant (3 prime UTR variant +1 more)	Amelogenesis imperfecta hypomaturation type 2A3	GUncertain significance
Select item 316520	NM_182758.4(WDR72):c.*2616C>T	WDR72	Single nucleotide variant (3 prime UTR variant +1 more)	Amelogenesis Imperfecta, Recessive	GUncertain significance
Select item 316526	NM_182758.4(WDR72):c.2613_2614insCACACATA	WDR72	Insertion (3 prime UTR variant +1 more)	Amelogenesis Imperfecta, Recessive	GUncertain significance
Select item 316525	NM_182758.4(WDR72):c.*2593GT[15]	WDR72	Microsatellite (3 prime UTR variant +1 more)	Amelogenesis Imperfecta, Recessive	GUncertain significance
Select item 316524	NM_182758.4(WDR72):c.*2593GT[14]	WDR72	Microsatellite (3 prime UTR variant +1 more)	not provided +1 more	GUncertain significance
Select item 316523	NM_182758.4(WDR72):c.*2593GT[13]	WDR72	Microsatellite (3 prime UTR variant +1 more)	not provided +1 more	GUncertain significance
Select item 316522	NM_182758.4(WDR72):c.*2593GT[12]	WDR72	Microsatellite (3 prime UTR variant +1 more)	not provided +1 more	GUncertain significance
Select item 316521	NM_182758.4(WDR72):c.*2593GT[11]	WDR72	Microsatellite (3 prime UTR variant +1 more)	Amelogenesis Imperfecta, Recessive	GUncertain significance
Select item 316527	NM_182758.4(WDR72):c.2611_2612insCACACA	WDR72	Insertion (3 prime UTR variant +1 more)	Amelogenesis Imperfecta, Recessive	GUncertain significance
Select item 316528	NM_182758.4(WDR72):c.2608_2609insATAT	WDR72	Insertion (3 prime UTR variant +1 more)	Amelogenesis Imperfecta, Recessive	GUncertain significance
Select item 316535	NM_182758.4(WDR72):c.2592_2593insTTGTGTGTGT	WDR72	Microsatellite (3 prime UTR variant +1 more)	Amelogenesis Imperfecta, Recessive	GUncertain significance
Select item 316534	NM_182758.4(WDR72):c.2592_2593insTTGTGTGT	WDR72	Microsatellite (3 prime UTR variant +1 more)	not provided +1 more	GUncertain significance
Select item 316533	NM_182758.4(WDR72):c.2592_2593insTTGTGT	WDR72	Microsatellite (3 prime UTR variant +1 more)	Amelogenesis Imperfecta, Recessive	GBenign
Select item 316532	NM_182758.4(WDR72):c.*2592T[5]GT[1]	WDR72	Insertion (3 prime UTR variant +1 more)	Amelogenesis Imperfecta, Recessive	GUncertain significance
Select item 316531	NM_182758.4(WDR72):c.2592_2593insTTGT	WDR72	Insertion (3 prime UTR variant +1 more)	Amelogenesis Imperfecta, Recessive	GUncertain significance
Select item 316530	NM_182758.4(WDR72):c.2591_2592dup	WDR72	Duplication (3 prime UTR variant +1 more)	Amelogenesis Imperfecta, Recessive	GUncertain significance
Select item 316529	NM_182758.4(WDR72):c.*2593G>T	WDR72	Single nucleotide variant (3 prime UTR variant +1 more)	Amelogenesis imperfecta hypomaturation type 2A3	GUncertain significance
Select item 885434	NM_182758.4(WDR72):c.*2587G>C	WDR72	Single nucleotide variant (3 prime UTR variant +1 more)	Amelogenesis imperfecta hypomaturation type 2A3	GUncertain significance
Select item 885435	NM_182758.4(WDR72):c.*2521A>G	WDR72	Single nucleotide variant (3 prime UTR variant +1 more)	Amelogenesis imperfecta hypomaturation type 2A3	GUncertain significance
Select item 316536	NM_182758.4(WDR72):c.*2504T>G	WDR72	Single nucleotide variant (3 prime UTR variant +1 more)	Amelogenesis imperfecta hypomaturation type 2A3	GUncertain significance
Select item 316537	NM_182758.4(WDR72):c.*2497G>A	WDR72	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GBenign
Select item 886457	NM_182758.4(WDR72):c.*2470A>G	WDR72	Single nucleotide variant (3 prime UTR variant +1 more)	Amelogenesis imperfecta hypomaturation type 2A3	GUncertain significance
Select item 886458	NM_182758.4(WDR72):c.*2390C>A	WDR72	Single nucleotide variant (3 prime UTR variant +1 more)	Amelogenesis imperfecta hypomaturation type 2A3	GUncertain significance
Select item 886459	NM_182758.4(WDR72):c.*2378T>A	WDR72	Single nucleotide variant (3 prime UTR variant +1 more)	Amelogenesis imperfecta hypomaturation type 2A3	GUncertain significance
Select item 316538	NM_182758.4(WDR72):c.*2360C>T	WDR72	Single nucleotide variant (3 prime UTR variant +1 more)	Amelogenesis imperfecta hypomaturation type 2A3	GUncertain significance
Select item 316539	NM_182758.4(WDR72):c.*2356C>T	WDR72	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GLikely benign
Select item 886460	NM_182758.4(WDR72):c.*2215G>A	WDR72	Single nucleotide variant (3 prime UTR variant +1 more)	Amelogenesis imperfecta hypomaturation type 2A3	GUncertain significance
Select item 886461	NM_182758.4(WDR72):c.*2209C>T	WDR72	Single nucleotide variant (3 prime UTR variant +1 more)	Amelogenesis imperfecta hypomaturation type 2A3	GUncertain significance
Select item 887705	NM_182758.4(WDR72):c.*2137T>G	WDR72	Single nucleotide variant (3 prime UTR variant +1 more)	Amelogenesis imperfecta hypomaturation type 2A3	GUncertain significance
Select item 887706	NM_182758.4(WDR72):c.*2081C>T	WDR72	Single nucleotide variant (3 prime UTR variant +1 more)	Amelogenesis imperfecta hypomaturation type 2A3	GBenign
Select item 316540	NM_182758.4(WDR72):c.*2050C>A	WDR72	Single nucleotide variant (3 prime UTR variant +1 more)	Amelogenesis imperfecta hypomaturation type 2A3	GUncertain significance
Select item 887707	NM_182758.4(WDR72):c.*2003G>C	WDR72	Single nucleotide variant (3 prime UTR variant +1 more)	Amelogenesis imperfecta hypomaturation type 2A3	GUncertain significance
Select item 316541	NM_182758.4(WDR72):c.*1940A>T	WDR72	Single nucleotide variant (3 prime UTR variant +1 more)	Amelogenesis Imperfecta, Recessive	GUncertain significance
Select item 316542	NM_182758.4(WDR72):c.*1936A>G	WDR72	Single nucleotide variant (3 prime UTR variant +1 more)	Amelogenesis imperfecta hypomaturation type 2A3	GUncertain significance
Select item 316543	NM_182758.4(WDR72):c.*1932T>G	WDR72	Single nucleotide variant (3 prime UTR variant +1 more)	Amelogenesis Imperfecta, Recessive +1 more	GBenign
Select item 316544	NM_182758.4(WDR72):c.*1898G>A	WDR72	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GBenign
Select item 884561	NM_182758.4(WDR72):c.*1896T>A	WDR72	Single nucleotide variant (3 prime UTR variant +1 more)	Amelogenesis imperfecta hypomaturation type 2A3	GUncertain significance
Select item 885495	NM_182758.4(WDR72):c.*1866A>G	WDR72	Single nucleotide variant (3 prime UTR variant +1 more)	Amelogenesis imperfecta hypomaturation type 2A3	GUncertain significance
Select item 885496	NM_182758.4(WDR72):c.*1859A>G	WDR72	Single nucleotide variant (3 prime UTR variant +1 more)	Amelogenesis imperfecta hypomaturation type 2A3	GUncertain significance
Select item 885497	NM_182758.4(WDR72):c.*1853A>G	WDR72	Single nucleotide variant (3 prime UTR variant +1 more)	Amelogenesis imperfecta hypomaturation type 2A3	GUncertain significance
Select item 316545	NM_182758.4(WDR72):c.*1764T>G	WDR72	Single nucleotide variant (3 prime UTR variant +1 more)	Amelogenesis imperfecta hypomaturation type 2A3	GUncertain significance
Select item 316546	NM_182758.4(WDR72):c.*1739G>A	WDR72	Single nucleotide variant (3 prime UTR variant +1 more)	Amelogenesis Imperfecta, Recessive +1 more	GBenign
Select item 316547	NM_182758.4(WDR72):c.*1734T>C	WDR72	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GLikely benign
Select item 316548	NM_182758.4(WDR72):c.*1664G>T	WDR72	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GLikely benign
Select item 886518	NM_182758.4(WDR72):c.*1620C>T	WDR72	Single nucleotide variant (3 prime UTR variant +1 more)	Amelogenesis imperfecta hypomaturation type 2A3	GUncertain significance

<< First< Prev

Page of 4