83394[geneid] - ClinVar - NCBI

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

Search results

Items: 1 to 100 of 907

<< First< Prev

Page of 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154089	GRCh38/hg38 17p13.3-12(chr17:150732-14764202)x3	LOC130060143, LOC130060144 +963 more	Copy number gain	See cases	GPathogenic
Select item 149531	GRCh38/hg38 17p13.3-12(chr17:162016-12343901)x3	MIR6883, MIR744 +923 more	Copy number gain	See cases	GPathogenic
Select item 149158	GRCh38/hg38 17p13.3-13.1(chr17:162016-7697012)x1	ABR, ABR-AS1 +652 more	Copy number loss	See cases	GPathogenic
Select item 144699	GRCh38/hg38 17p13.3-13.1(chr17:162088-6959050)x1	LOC130059866, LOC130059867 +499 more	Copy number loss	See cases	GPathogenic
Select item 2579287	GRCh38/hg38 17p13.3-12(chr17:165730-11404096)x3	LOC130060077, LOC130060078 +911 more	Copy number gain	Chromosome 17p13.3 duplication syndrome	GPathogenic
Select item 145642	GRCh38/hg38 17p13.3-13.1(chr17:198748-7491129)x3	YWHAE, ZBTB4 +605 more	Copy number gain	See cases	GPathogenic
Select item 59563	GRCh38/hg38 17p13.2-13.1(chr17:3601515-7178024)x1	LOC130060037, LOC130060038 +291 more	Copy number loss	See cases	GPathogenic
Select item 145484	GRCh38/hg38 17p13.2-12(chr17:5732953-12095349)x3	LOC126862500, LOC126862501 +461 more	Copy number gain	See cases	GPathogenic
Select item 57356	GRCh38/hg38 17p13.2-13.1(chr17:5732977-8038822)x1	ACADVL, ACAP1 +229 more	Copy number loss	See cases	GPathogenic
Select item 149166	GRCh38/hg38 17p13.2-13.1(chr17:6361393-7750863)x3	ACADVL, ACAP1 +182 more	Copy number gain	See cases	GLikely pathogenic
Select item 324652	NM_019013.3(PIMREG):c.*944G>A	PIMREG, PITPNM3	Single nucleotide variant (3 prime UTR variant)	Cone-rod dystrophy 5	GUncertain significance
Select item 324653	NM_019013.3(PIMREG):c.*1113C>T	PIMREG, PITPNM3	Single nucleotide variant (3 prime UTR variant)	Cone-rod dystrophy 5	GBenign
Select item 890891	NM_031220.4(PITPNM3):c.*3762C>T	PITPNM3	Single nucleotide variant (3 prime UTR variant)	Cone-rod dystrophy 5	GUncertain significance
Select item 890892	NM_031220.4(PITPNM3):c.*3734G>A	PITPNM3	Single nucleotide variant (3 prime UTR variant)	Cone-rod dystrophy 5	GBenign
Select item 890893	NM_031220.4(PITPNM3):c.*3723G>A	PITPNM3	Single nucleotide variant (3 prime UTR variant)	Cone-rod dystrophy 5	GBenign
Select item 324654	NM_031220.4(PITPNM3):c.*3708G>A	PITPNM3	Single nucleotide variant (3 prime UTR variant)	Cone-rod dystrophy 5	GBenign
Select item 324655	NM_031220.4(PITPNM3):c.*3707G>A	PITPNM3	Single nucleotide variant (3 prime UTR variant)	Cone-rod dystrophy 5	GUncertain significance
Select item 324656	NM_031220.4(PITPNM3):c.*3706G>C	PITPNM3	Single nucleotide variant (3 prime UTR variant)	Cone-rod dystrophy 5	GUncertain significance
Select item 324657	NM_031220.4(PITPNM3):c.*3693A>G	PITPNM3	Single nucleotide variant (3 prime UTR variant)	Cone-rod dystrophy 5	GBenign
Select item 890894	NM_031220.4(PITPNM3):c.*3685A>C	PITPNM3	Single nucleotide variant (3 prime UTR variant)	Cone-rod dystrophy 5	GBenign
Select item 324658	NM_031220.4(PITPNM3):c.*3561G>A	PITPNM3	Single nucleotide variant (3 prime UTR variant)	Cone-rod dystrophy 5	GBenign
Select item 324659	NM_031220.4(PITPNM3):c.*3555del	PITPNM3	Deletion (3 prime UTR variant)	Cone-Rod Dystrophy, Dominant	GBenign
Select item 324660	NM_031220.4(PITPNM3):c.*3541C>T	PITPNM3	Single nucleotide variant (3 prime UTR variant)	Cone-rod dystrophy 5	GBenign
Select item 324661	NM_031220.4(PITPNM3):c.*3509C>T	PITPNM3	Single nucleotide variant (3 prime UTR variant)	Cone-rod dystrophy 5	GBenign
Select item 324662	NM_031220.4(PITPNM3):c.*3464dup	PITPNM3	Duplication (3 prime UTR variant)	Cone-Rod Dystrophy, Dominant	GUncertain significance
Select item 324664	NM_031220.4(PITPNM3):c.3463_3464insCG	PITPNM3	Insertion (3 prime UTR variant)	Cone-Rod Dystrophy, Dominant	GUncertain significance
Select item 324663	NM_031220.4(PITPNM3):c.*3464del	PITPNM3	Deletion (3 prime UTR variant)	Cone-Rod Dystrophy, Dominant	GUncertain significance
Select item 324665	NM_031220.4(PITPNM3):c.*3462G>C	PITPNM3	Single nucleotide variant (3 prime UTR variant)	Cone-rod dystrophy 5	GUncertain significance
Select item 892127	NM_031220.4(PITPNM3):c.*3458G>T	PITPNM3	Single nucleotide variant (3 prime UTR variant)	Cone-rod dystrophy 5	GUncertain significance
Select item 324666	NM_031220.4(PITPNM3):c.3456_3457insT	PITPNM3	Insertion (3 prime UTR variant)	Cone-Rod Dystrophy, Dominant	GUncertain significance
Select item 324667	NM_031220.4(PITPNM3):c.3455_3456insT	PITPNM3	Insertion (3 prime UTR variant)	Cone-Rod Dystrophy, Dominant	GUncertain significance
Select item 2647309	NM_031220.4(PITPNM3):c.*3454G>C	PITPNM3	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 324669	NM_031220.4(PITPNM3):c.3453_3454insA	PITPNM3	Insertion (3 prime UTR variant)	Cone-Rod Dystrophy, Dominant	GUncertain significance
Select item 324668	NM_031220.4(PITPNM3):c.3453_3454insC	PITPNM3	Insertion (3 prime UTR variant)	Cone-Rod Dystrophy, Dominant	GUncertain significance
Select item 892128	NM_031220.4(PITPNM3):c.*3453G>T	PITPNM3	Single nucleotide variant (3 prime UTR variant)	Cone-rod dystrophy 5	GUncertain significance
Select item 324670	NM_031220.4(PITPNM3):c.3452_3453del	PITPNM3	Deletion (3 prime UTR variant)	Cone-Rod Dystrophy, Dominant	GUncertain significance
Select item 324674	NM_031220.4(PITPNM3):c.*3452C>G	PITPNM3	Single nucleotide variant (3 prime UTR variant)	Cone-rod dystrophy 5	GUncertain significance
Select item 324673	NM_031220.4(PITPNM3):c.3446_3452delinsTGGCGGGGG	PITPNM3	Indel (3 prime UTR variant)	Cone-Rod Dystrophy, Dominant	GUncertain significance
Select item 324672	NM_031220.4(PITPNM3):c.*3452del	PITPNM3	Deletion (3 prime UTR variant)	Cone-Rod Dystrophy, Dominant	GUncertain significance
Select item 892129	NM_031220.4(PITPNM3):c.*3451G>A	PITPNM3	Single nucleotide variant (3 prime UTR variant)	Cone-rod dystrophy 5	GUncertain significance
Select item 888684	NM_031220.4(PITPNM3):c.*3449G>A	PITPNM3	Single nucleotide variant (3 prime UTR variant)	Cone-rod dystrophy 5	GUncertain significance
Select item 888683	NM_031220.4(PITPNM3):c.*3449G>C	PITPNM3	Single nucleotide variant (3 prime UTR variant)	Cone-rod dystrophy 5	GUncertain significance
Select item 324675	NM_031220.4(PITPNM3):c.3448_3449insCGG	PITPNM3	Insertion (3 prime UTR variant)	Cone-Rod Dystrophy, Dominant	GUncertain significance
Select item 888685	NM_031220.4(PITPNM3):c.*3448C>G	PITPNM3	Single nucleotide variant (3 prime UTR variant)	Cone-rod dystrophy 5	GUncertain significance
Select item 324676	NM_031220.4(PITPNM3):c.*3447dup	PITPNM3	Duplication (3 prime UTR variant)	Cone-Rod Dystrophy, Dominant	GUncertain significance
Select item 888686	NM_031220.4(PITPNM3):c.*3446G>T	PITPNM3	Single nucleotide variant (3 prime UTR variant)	Cone-rod dystrophy 5	GUncertain significance
Select item 324671	NM_031220.4(PITPNM3):c.3445_3446insT	PITPNM3	Insertion (3 prime UTR variant)	Cone-Rod Dystrophy, Dominant	GUncertain significance
Select item 324677	NM_031220.4(PITPNM3):c.*3390C>T	PITPNM3	Single nucleotide variant (3 prime UTR variant)	Cone-rod dystrophy 5	GBenign
Select item 888687	NM_031220.4(PITPNM3):c.*3371C>G	PITPNM3	Single nucleotide variant (3 prime UTR variant)	Cone-rod dystrophy 5	GUncertain significance
Select item 324678	NM_031220.4(PITPNM3):c.*3371C>T	PITPNM3	Single nucleotide variant (3 prime UTR variant)	Cone-rod dystrophy 5	GUncertain significance
Select item 324679	NM_031220.4(PITPNM3):c.*3342C>T	PITPNM3	Single nucleotide variant (3 prime UTR variant)	Cone-rod dystrophy 5	GUncertain significance
Select item 890395	NM_031220.4(PITPNM3):c.*3327G>C	PITPNM3	Single nucleotide variant (3 prime UTR variant)	Cone-rod dystrophy 5	GUncertain significance
Select item 324681	NM_031220.4(PITPNM3):c.*3253G>C	PITPNM3	Single nucleotide variant (3 prime UTR variant)	Cone-rod dystrophy 5	GBenign
Select item 324683	NM_031220.4(PITPNM3):c.*3239C>T	PITPNM3	Single nucleotide variant (3 prime UTR variant)	Cone-rod dystrophy 5	GBenign
Select item 892188	NM_031220.4(PITPNM3):c.*3162A>T	PITPNM3	Single nucleotide variant (3 prime UTR variant)	Cone-rod dystrophy 5	GUncertain significance
Select item 324685	NM_031220.4(PITPNM3):c.*3132T>A	PITPNM3	Single nucleotide variant (3 prime UTR variant)	Cone-rod dystrophy 5	GLikely benign
Select item 892189	NM_031220.4(PITPNM3):c.*3106T>C	PITPNM3	Single nucleotide variant (3 prime UTR variant)	Cone-rod dystrophy 5	GUncertain significance
Select item 324686	NM_031220.4(PITPNM3):c.*2981G>A	PITPNM3	Single nucleotide variant (3 prime UTR variant)	Cone-rod dystrophy 5	GBenign
Select item 888752	NM_031220.4(PITPNM3):c.*2971G>A	PITPNM3	Single nucleotide variant (3 prime UTR variant)	Cone-rod dystrophy 5	GUncertain significance
Select item 324687	NM_031220.4(PITPNM3):c.*2957G>A	PITPNM3	Single nucleotide variant (3 prime UTR variant)	Cone-rod dystrophy 5	GUncertain significance
Select item 890459	NM_031220.4(PITPNM3):c.*2845A>G	PITPNM3	Single nucleotide variant (3 prime UTR variant)	Cone-rod dystrophy 5	GUncertain significance
Select item 890460	NM_031220.4(PITPNM3):c.*2830G>C	PITPNM3	Single nucleotide variant (3 prime UTR variant)	Cone-rod dystrophy 5	GBenign
Select item 890461	NM_031220.4(PITPNM3):c.*2762G>C	PITPNM3	Single nucleotide variant (3 prime UTR variant)	Cone-rod dystrophy 5	GUncertain significance
Select item 324695	NM_031220.4(PITPNM3):c.*2701C>T	PITPNM3	Single nucleotide variant (3 prime UTR variant)	Cone-rod dystrophy 5	GUncertain significance
Select item 891021	NM_031220.4(PITPNM3):c.*2482C>A	PITPNM3	Single nucleotide variant (3 prime UTR variant)	Cone-rod dystrophy 5	GUncertain significance
Select item 324696	NM_031220.4(PITPNM3):c.*2381AG[5]	PITPNM3	Microsatellite (3 prime UTR variant)	Cone-Rod Dystrophy, Dominant +1 more	GBenign/Likely benign
Select item 891022	NM_031220.4(PITPNM3):c.*2390G>A	PITPNM3	Single nucleotide variant (3 prime UTR variant)	Cone-rod dystrophy 5	GUncertain significance
Select item 324697	NM_031220.4(PITPNM3):c.*2363AG[7]	PITPNM3	Microsatellite (3 prime UTR variant)	Cone-Rod Dystrophy, Dominant	GUncertain significance
Select item 324698	NM_031220.4(PITPNM3):c.*2345AG[6]	PITPNM3	Microsatellite (3 prime UTR variant)	Cone-Rod Dystrophy, Dominant	GUncertain significance
Select item 324699	NM_031220.4(PITPNM3):c.2336_2337del	PITPNM3	Deletion (3 prime UTR variant)	Cone-Rod Dystrophy, Dominant	GBenign
Select item 324700	NM_031220.4(PITPNM3):c.*2336A>G	PITPNM3	Single nucleotide variant (3 prime UTR variant)	Cone-rod dystrophy 5	GBenign
Select item 2647310	NM_031220.4(PITPNM3):c.*2316GA[6]	PITPNM3	Microsatellite (3 prime UTR variant)	not provided	GBenign
Select item 324703	NM_031220.4(PITPNM3):c.*2316GA[7]	PITPNM3	Microsatellite (3 prime UTR variant)	Cone-Rod Dystrophy, Dominant	GUncertain significance
Select item 324702	NM_031220.4(PITPNM3):c.*2316GA[8]	PITPNM3	Microsatellite (3 prime UTR variant)	Cone-Rod Dystrophy, Dominant	GUncertain significance
Select item 324701	NM_031220.4(PITPNM3):c.*2316GA[9]	PITPNM3	Microsatellite (3 prime UTR variant)	Cone-Rod Dystrophy, Dominant	GUncertain significance
Select item 891023	NM_031220.4(PITPNM3):c.*2334G>A	PITPNM3	Single nucleotide variant (3 prime UTR variant)	Cone-rod dystrophy 5	GUncertain significance
Select item 324704	NM_031220.4(PITPNM3):c.2305_2308del	PITPNM3	Deletion (3 prime UTR variant)	Cone-Rod Dystrophy, Dominant	GUncertain significance
Select item 324705	NM_031220.4(PITPNM3):c.*2306delinsAAGGAAGACAGAGAG	PITPNM3	Indel (3 prime UTR variant)	Cone-Rod Dystrophy, Dominant	GUncertain significance
Select item 324706	NM_031220.4(PITPNM3):c.*2302A>C	PITPNM3	Single nucleotide variant (3 prime UTR variant)	Cone-rod dystrophy 5	GUncertain significance
Select item 2647311	NM_031220.4(PITPNM3):c.*2281AG[4]	PITPNM3	Microsatellite (3 prime UTR variant)	not provided	GBenign
Select item 324707	NM_031220.4(PITPNM3):c.*2289A>G	PITPNM3	Single nucleotide variant (3 prime UTR variant)	Cone-rod dystrophy 5	GUncertain significance
Select item 324708	NM_031220.4(PITPNM3):c.*2196AG[10]	PITPNM3	Microsatellite (3 prime UTR variant)	Cone-Rod Dystrophy, Dominant	GUncertain significance
Select item 324709	NM_031220.4(PITPNM3):c.*2196AG[7]	PITPNM3	Microsatellite (3 prime UTR variant)	Cone-Rod Dystrophy, Dominant	GUncertain significance
Select item 891024	NM_031220.4(PITPNM3):c.*2207G>A	PITPNM3	Single nucleotide variant (3 prime UTR variant)	Cone-rod dystrophy 5	GUncertain significance
Select item 324710	NM_031220.4(PITPNM3):c.*2203G>A	PITPNM3	Single nucleotide variant (3 prime UTR variant)	Cone-rod dystrophy 5	GBenign
Select item 324711	NM_031220.4(PITPNM3):c.*2199G>A	PITPNM3	Single nucleotide variant (3 prime UTR variant)	Cone-rod dystrophy 5	GUncertain significance
Select item 324712	NM_031220.4(PITPNM3):c.2183_2184del	PITPNM3	Deletion (3 prime UTR variant)	Cone-Rod Dystrophy, Dominant	GUncertain significance
Select item 892248	NM_031220.4(PITPNM3):c.*2160C>T	PITPNM3	Single nucleotide variant (3 prime UTR variant)	Cone-rod dystrophy 5	GUncertain significance
Select item 324713	NM_031220.4(PITPNM3):c.*2088A>G	PITPNM3	Single nucleotide variant (3 prime UTR variant)	Cone-rod dystrophy 5	GBenign
Select item 324714	NM_031220.4(PITPNM3):c.*2061C>T	PITPNM3	Single nucleotide variant (3 prime UTR variant)	Cone-rod dystrophy 5	GBenign
Select item 324715	NM_031220.4(PITPNM3):c.*2037del	PITPNM3	Deletion (3 prime UTR variant)	Cone-Rod Dystrophy, Dominant	GLikely benign
Select item 324716	NM_031220.4(PITPNM3):c.2024_2025del	PITPNM3	Deletion (3 prime UTR variant)	Cone-Rod Dystrophy, Dominant	GUncertain significance
Select item 324717	NM_031220.4(PITPNM3):c.*1909G>C	PITPNM3	Single nucleotide variant (3 prime UTR variant)	Cone-rod dystrophy 5	GBenign
Select item 324718	NM_031220.4(PITPNM3):c.*1840C>T	PITPNM3	Single nucleotide variant (3 prime UTR variant)	Cone-rod dystrophy 5	GBenign
Select item 324719	NM_031220.4(PITPNM3):c.*1733C>A	PITPNM3	Single nucleotide variant (3 prime UTR variant)	Cone-rod dystrophy 5	GUncertain significance
Select item 324720	NM_031220.4(PITPNM3):c.*1673G>A	PITPNM3	Single nucleotide variant (3 prime UTR variant)	Cone-rod dystrophy 5	GUncertain significance
Select item 324721	NM_031220.4(PITPNM3):c.*1656G>A	PITPNM3	Single nucleotide variant (3 prime UTR variant)	Cone-rod dystrophy 5	GUncertain significance
Select item 888837	NM_031220.4(PITPNM3):c.*1646G>A	PITPNM3	Single nucleotide variant (3 prime UTR variant)	Cone-rod dystrophy 5	GUncertain significance
Select item 888838	NM_031220.4(PITPNM3):c.*1637G>A	PITPNM3	Single nucleotide variant (3 prime UTR variant)	Cone-rod dystrophy 5	GUncertain significance
Select item 324722	NM_031220.4(PITPNM3):c.*1617A>G	PITPNM3	Single nucleotide variant (3 prime UTR variant)	Cone-rod dystrophy 5	GBenign

<< First< Prev

Page of 10