ClinVar for Gene (Select 100288332) - ClinVar - NCBI

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

Links from Gene

Items: 1 to 100 of 263

<< First< Prev

Page of 3

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3242339	GRCh37/hg19 16p13.11(chr16:15124948-16290785)x1	ABCC1, ABCC6 +10 more	Copy number loss	not provided	GPathogenic
Select item 3242310	GRCh37/hg19 16p13.12-13.11(chr16:14800000-16400000)x3	ABCC1, ABCC6 +15 more	Copy number gain	not provided	GPathogenic
Select item 3235935	GRCh38/hg38 16p13.12-12.3(chr16:15034129-16187150)	ABCC1, ABCC6 +58 more	Copy number gain	16p13.11 microduplication syndrome	GLikely pathogenic
Select item 3235906	GRCh38/hg38 16p13.12-13.11(chr16:15032610-16203929)	ABCC1, ABCC6 +57 more	Copy number gain	16p13.11 microduplication syndrome	GLikely pathogenic
Select item 3063442	GRCh37/hg19 16p13.11(chr16:14892713-16544419)x3	ABCC1, ABCC6 +13 more	Copy number gain	not specified	GPathogenic
Select item 3063441	GRCh37/hg19 16p13.11(chr16:14866283-16544419)x3	ABCC1, ABCC6 +13 more	Copy number gain	not specified	GPathogenic
Select item 3063418	GRCh37/hg19 16p13.11(chr16:14892880-16494783)x3	ABCC1, ABCC6 +13 more	Copy number gain	not specified	GPathogenic
Select item 3063408	GRCh37/hg19 16p13.11(chr16:14906734-16516109)x3	ABCC1, ABCC6 +13 more	Copy number gain	not specified	GPathogenic
Select item 3062590	GRCh37/hg19 16p13.11(chr16:15126890-16289059)x3	ABCC1, ABCC6 +10 more	Copy number gain	not specified	GLikely pathogenic, low penetrance
Select item 3024599	GRCh37/hg19 16p13.11-12.3(chr16:15458733-18188719)x1	ABCC1, ABCC6 +9 more	Copy number loss	not provided	GPathogenic
Select item 3024597	GRCh37/hg19 16p13.11(chr16:14927578-16481355)x1	ABCC1, ABCC6 +13 more	Copy number loss	not provided	GPathogenic
Select item 3024596	GRCh37/hg19 16p13.11(chr16:14858860-16367932)x3	ABCC1, ABCC6 +14 more	Copy number gain	not provided	GLikely pathogenic
Select item 3024387	GRCh38/hg38 16p13.11-12.3(chr16:15184811-18708191)	LOC102723692, LOC111365165 +77 more	Copy number loss	Autism spectrum disorder	GPathogenic
Select item 2685561	GRCh37/hg19 16p13.11(chr16:15450290-16458408)x1	ABCC1, ABCC6 +8 more	Copy number loss	not provided	GPathogenic
Select item 2685560	GRCh37/hg19 16p13.11(chr16:15358446-16494783)x1	ABCC1, ABCC6 +8 more	Copy number loss	not provided	GPathogenic
Select item 2685559	GRCh37/hg19 16p13.11(chr16:15324776-16294705)x1	ABCC1, ABCC6 +7 more	Copy number loss	not provided	GPathogenic
Select item 2684791	GRCh37/hg19 16p13.11-12.3(chr16:15058821-16837613)x3	ABCC1, ABCC6 +11 more	Copy number gain	not provided	GLikely pathogenic
Select item 2684790	GRCh37/hg19 16p13.11(chr16:15054346-16309165)x3	ABCC1, ABCC6 +10 more	Copy number gain	not provided	GLikely pathogenic
Select item 2672673	GRCh37/hg19 16p13.11(chr16:15460510-16443142)x3	ABCC1, ABCC6 +8 more	Copy number gain	not provided	GLikely pathogenic
Select item 2647150	GRCh37/hg19 16p13.11(chr16:14927709-16364041)x1	ABCC1, ABCC6 +13 more	Copy number loss	not provided	GPathogenic
Select item 2646249	NM_001277325.2(NPIPA5):c.219G>A (p.Pro73=)	NPIPA5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2580341	GRCh37/hg19 16p13.11(chr16:14853752-16666672)x1	ABCC1, ABCC6 +14 more	Copy number loss	16p13.11 microdeletion syndrome	GPathogenic
Select item 2580319	GRCh37/hg19 16p13.11(chr16:15125542-16388672)x3	ABCC1, ABCC6 +11 more	Copy number gain	16p13.11 microduplication syndrome	GPathogenic
Select item 2570961	GRCh37/hg19 16p13.11(chr16:14819740-16364041)x3	ABCC1, ABCC6 +15 more	Copy number gain	not provided	GLikely pathogenic
Select item 2500752	NC_000016.10:g.14683149_16205174dup	ABCC1, ABCC6 +46 more	Duplication	not specified	GUncertain significance
Select item 2499651	GRCh38/hg38 16p13.11(chr16:14816348-16678513)	MIR3180-4, MIR6770-2 +54 more	Copy number gain	Anomalous pulmonary venous return	GUncertain significance
Select item 2498201	Single allele	ABCC1, ABCC6 +57 more	Deletion	16p13.11 recurrent microdeletion syndrome	GLikely pathogenic
Select item 1879351	GRCh37/hg19 16p13.11(chr16:14927709-16484731)x3	ABCC1, ABCC6 +13 more	Copy number gain	not provided	GLikely pathogenic
Select item 1808623	GRCh37/hg19 16p13.12-13.11(chr16:14780544-16330627)x1	ABCC1, ABCC6 +16 more	Copy number loss	not provided	GPathogenic
Select item 1808599	GRCh37/hg19 16p13.12-12.3(chr16:14365745-17052798)x3	ABCC1, ABCC6 +20 more	Copy number gain	not provided	GLikely pathogenic
Select item 1808394	GRCh37/hg19 16p13.11(chr16:14925995-16309165)x3	ABCC1, ABCC6 +12 more	Copy number gain	not provided	GLikely pathogenic
Select item 1807809	GRCh37/hg19 16p13.11(chr16:15449697-16391045)x1	ABCC1, ABCC6 +8 more	Copy number loss	not provided	GPathogenic
Select item 1807793	GRCh37/hg19 16p13.3-11.2(chr16:4380767-30445350)x3	ABAT, ABCC1 +226 more	Copy number gain	not provided	GPathogenic
Select item 1807737	GRCh37/hg19 16p13.11(chr16:15423704-16327961)x3	ABCC1, ABCC6 +8 more	Copy number gain	not provided	GLikely pathogenic
Select item 1807725	GRCh37/hg19 16p13.11-12.3(chr16:15316939-18770833)x3	ABCC1, ABCC6 +10 more	Copy number gain	not provided	GLikely pathogenic
Select item 1711420	GRCh37/hg19 16p13.11-12.3(chr16:15458733-18520588)x3	MARF1, MPV17L +10 more	Copy number gain	not provided	GLikely pathogenic
Select item 1711419	GRCh37/hg19 16p13.11-12.3(chr16:15457516-17564653)x3	ABCC1, ABCC6 +9 more	Copy number gain	not provided	GLikely pathogenic
Select item 1708186	GRCh37/hg19 16p13.11(chr16:15416716-16529801)x3	BMERB1, ABCC1 +8 more	Copy number gain	See cases	GUncertain significance
Select item 1707420	GRCh37/hg19 16p13.11-12.3(chr16:15416917-18770833)x3	ABCC1, ABCC6 +10 more	Copy number gain	See cases	GUncertain significance
Select item 1703615	GRCh37/hg19 16p13.11(chr16:14892880-16533890)	ABCC1, ABCC6 +13 more	Copy number gain	16p13.11 microduplication syndrome	GLikely pathogenic
Select item 1703614	GRCh37/hg19 16p13.11(chr16:14892880-16544222)	ABCC1, ABCC6 +13 more	Copy number gain	16p13.11 microduplication syndrome	GLikely pathogenic
Select item 1703613	GRCh37/hg19 16p13.11(chr16:14897372-16513267)	ABCC1, ABCC6 +13 more	Copy number loss	Seizure	GPathogenic
Select item 1703612	GRCh37/hg19 16p13.11(chr16:14897625-16494783)	ABCC1, ABCC6 +13 more	Copy number loss	16p13.11 microdeletion syndrome	GPathogenic
Select item 1703611	GRCh37/hg19 16p13.11(chr16:14899676-16516109)	ABCC1, ABCC6 +13 more	Copy number loss	Hydrocephalus	GPathogenic
Select item 1703607	GRCh37/hg19 16p13.11-12.3(chr16:15316618-18191725)	ABCC1, ABCC6 +9 more	Copy number gain	Cardiomyopathy	GLikely pathogenic
Select item 1703606	GRCh37/hg19 16p13.11(chr16:14927857-16537664)	CEP20, MARF1 +13 more	Copy number gain	Autism	GLikely pathogenic
Select item 1703604	GRCh37/hg19 16p13.11-12.3(chr16:15316618-18770833)	ABCC1, ABCC6 +10 more	Copy number gain	Autism	GLikely pathogenic
Select item 1684553	GRCh37/hg19 16p13.11(chr16:14886858-16328857)x3	ABCC1, ABCC6 +13 more	Copy number gain	See cases	GLikely pathogenic
Select item 1340567	GRCh37/hg19 16p13.11(chr16:15375912-16390970)x1	ABCC1, ABCC6 +8 more	Copy number loss	not provided	GPathogenic
Select item 1339967	GRCh37/hg19 16p13.11(chr16:15418575-16494783)x1	ABCC1, ABCC6 +8 more	Copy number loss	not provided	GPathogenic
Select item 1328114	GRCh37/hg19 16p13.11(chr16:15124581-16290348)x3	ABCC1, ABCC6 +10 more	Copy number gain	not provided	GLikely pathogenic
Select item 1180507	GRCh37/hg19 16p13.11(chr16:14887031-16308753)x3	BMERB1, CEP20 +12 more	Copy number gain	not provided	GPathogenic
Select item 1180506	GRCh37/hg19 16p13.11(chr16:15124782-16291779)x1	ABCC1, ABCC6 +10 more	Copy number loss	not provided	GPathogenic
Select item 997965	GRCh37/hg19 16p13.11(chr16:15126890-16293190)x3	ABCC1, ABCC6 +10 more	Copy number gain	Intellectual disability	GPathogenic
Select item 997820	Single allele	ABCC1, ABCC6 +13 more	Deletion	Epilepsy	GPathogenic
Select item 997074	GRCh37/hg19 16p13.11(chr16:15048751-16292235)	ABCC1, ABCC6 +10 more	Copy number loss	Abnormality of the head	GPathogenic
Select item 992654	GRCh37/hg19 16p13.11(chr16:14968855-16251122)x1	ABCC1, ABCC6 +12 more	Copy number loss	not provided	Grisk factor
Select item 983281	GRCh37/hg19 16p13.3-11.2(chr16:2959279-30190593)x3	ABAT, ABCC1 +252 more	Copy number gain	See cases	GPathogenic
Select item 980082	GRCh37/hg19 16p13.11-12.3(chr16:15375911-18198455)x1	ABCC1, ABCC6 +9 more	Copy number loss	not provided	GPathogenic
Select item 980080	GRCh37/hg19 16p13.11-12.3(chr16:15316618-18164698)x3	MARF1, MPV17L +9 more	Copy number gain	not provided	GLikely pathogenic
Select item 980079	GRCh37/hg19 16p13.11-12.3(chr16:15193982-18770833)x3	ABCC1, ABCC6 +10 more	Copy number gain	not provided	GLikely pathogenic
Select item 980077	GRCh37/hg19 16p13.11(chr16:14929038-16309046)x3	ABCC1, ABCC6 +12 more	Copy number gain	not provided	GLikely pathogenic
Select item 980076	GRCh37/hg19 16p13.11(chr16:15058820-16328840)x3	ABCC1, ABCC6 +11 more	Copy number gain	not provided	GLikely pathogenic
Select item 980075	GRCh37/hg19 16p13.11(chr16:15127985-16527476)x3	ABCC1, ABCC6 +11 more	Copy number gain	not provided	GLikely pathogenic
Select item 980074	GRCh37/hg19 16p13.11(chr16:15417030-16544419)x3	ABCC1, ABCC6 +8 more	Copy number gain	not provided	GLikely pathogenic
Select item 973048	GRCh37/hg19 16p13.11(chr16:15154115-16276115)	ABCC1, ABCC6 +8 more	Copy number loss	Rubinstein-Taybi syndrome due to 16p13.3 microdeletion	Gnot provided
Select item 929344	GRCh37/hg19 16p13.11(chr16:14975292-16291099)x3	CEP20, MARF1 +12 more	Copy number gain	See cases	GLikely pathogenic
Select item 815803	GRCh37/hg19 16p13.11-12.3(chr16:15416364-18231275)x1	ABCC1, ABCC6 +9 more	Copy number loss	not provided	GPathogenic
Select item 815800	GRCh37/hg19 16p13.11(chr16:14900182-16529801)x3	BMERB1, CEP20 +13 more	Copy number gain	not provided	GLikely pathogenic
Select item 815799	GRCh37/hg19 16p13.11-12.3(chr16:14900168-16869135)x3	BMERB1, CEP20 +13 more	Copy number gain	not provided	GLikely pathogenic
Select item 815798	GRCh37/hg19 16p13.11-12.3(chr16:14900072-16837613)x3	ABCC1, ABCC6 +13 more	Copy number gain	not provided	GLikely pathogenic
Select item 815797	GRCh37/hg19 16p13.11(chr16:14897625-16514111)x1	NOMO3, NPIPA1 +13 more	Copy number loss	not provided	GPathogenic
Select item 815796	GRCh37/hg19 16p13.11(chr16:14893566-16330627)x1	ABCC1, ABCC6 +13 more	Copy number loss	not provided	GPathogenic
Select item 815795	GRCh37/hg19 16p13.12-13.11(chr16:14780543-16391045)x1	ABCC1, ABCC6 +16 more	Copy number loss	not provided	GPathogenic
Select item 815794	GRCh37/hg19 16p13.12-13.11(chr16:14770672-16458408)x1	ABCC1, ABCC6 +16 more	Copy number loss	not provided	GPathogenic
Select item 815793	GRCh37/hg19 16p13.12-13.11(chr16:14770672-16388343)x1	ABCC1, ABCC6 +16 more	Copy number loss	not provided	GPathogenic
Select item 813717	GRCh37/hg19 16p13.3-11.2(chr16:5805001-34230001)	ABAT, ABCC1 +250 more	Copy number gain	Microcephaly	GPathogenic
Select item 808171	GRCh37/hg19 16p13.11(chr16:14932264-16484731)x3	BMERB1, NPIPA5 +13 more	Copy number gain	not provided	GUncertain significance
Select item 808170	GRCh37/hg19 16p13.11(chr16:14927709-16367932)x3	ABCC1, ABCC6 +13 more	Copy number gain	not provided	GUncertain significance
Select item 684459	Single allele	ABCC6, ABCC1 +8 more	Deletion	Rubinstein-Taybi syndrome due to 16p13.3 microdeletion	Gnot provided
Select item 625835	GRCh37/hg19 16p13.11(chr16:15425965-16199736)	ABCC1, BMERB1 +6 more	Copy number loss	not provided	GPathogenic
Select item 625816	GRCh37/hg19 16p13.11(chr16:15126709-16292235)	ABCC1, ABCC6 +10 more	Copy number gain	not provided	GPathogenic
Select item 625755	GRCh37/hg19 16p13.11(chr16:15126709-16292235)	ABCC1, ABCC6 +10 more	Copy number gain	not provided	GPathogenic
Select item 625687	GRCh37/hg19 16p13.11(chr16:15125627-16291983)	ABCC1, ABCC6 +10 more	Copy number loss	not provided	GPathogenic
Select item 625660	GRCh37/hg19 16p13.11(chr16:15034210-16199736)	ABCC1, BMERB1 +10 more	Copy number gain	not provided	GPathogenic
Select item 625598	GRCh37/hg19 16p13.11(chr16:15168667-16291983)	ABCC1, ABCC6 +8 more	Copy number gain	not provided	GPathogenic
Select item 625597	GRCh37/hg19 16p13.11(chr16:15129970-16284116)	ABCC1, ABCC6 +10 more	Copy number gain	not provided	GPathogenic
Select item 625571	GRCh37/hg19 16p13.11(chr16:15395312-16210889)	ABCC1, BMERB1 +6 more	Copy number loss	not provided	GPathogenic
Select item 625570	GRCh37/hg19 16p13.11(chr16:15126709-16292235)	BMERB1, ABCC1 +10 more	Copy number gain	not provided	GPathogenic
Select item 625569	GRCh37/hg19 16p13.11(chr16:15125627-16286750)	ABCC1, ABCC6 +10 more	Copy number gain	not provided	GPathogenic
Select item 625568	GRCh37/hg19 16p13.11(chr16:14975292-16289532)	ABCC1, ABCC6 +12 more	Copy number gain	not provided	GPathogenic
Select item 625566	GRCh37/hg19 16p13.11(chr16:14975292-16301530)	ABCC1, ABCC6 +12 more	Copy number gain	not provided	GPathogenic
Select item 625565	GRCh37/hg19 16p13.12-13.11(chr16:14766480-16286694)	ABCC1, ABCC6 +15 more	Copy number gain	not provided	GPathogenic
Select item 564288	GRCh37/hg19 16p13.11(chr16:15449696-16330627)x1	ABCC1, ABCC6 +8 more	Copy number loss	not provided	GPathogenic
Select item 564287	GRCh37/hg19 16p13.11(chr16:15419480-16494783)x1	ABCC1, ABCC6 +8 more	Copy number loss	not provided	GPathogenic
Select item 564286	GRCh37/hg19 16p13.11(chr16:15351247-16458408)x1	ABCC1, ABCC6 +8 more	Copy number loss	not provided	GPathogenic
Select item 564285	GRCh37/hg19 16p13.11-12.3(chr16:15318664-18778064)x1	ABCC1, ABCC6 +10 more	Copy number loss	not provided	GPathogenic
Select item 564284	GRCh37/hg19 16p13.11-12.3(chr16:15316618-18185466)x3	ABCC1, ABCC6 +9 more	Copy number gain	not provided	GLikely pathogenic
Select item 564283	GRCh37/hg19 16p13.11-12.3(chr16:15316618-18181971)x1	ABCC1, ABCC6 +9 more	Copy number loss	not provided	GPathogenic
Select item 564282	GRCh37/hg19 16p13.11(chr16:14899676-16391045)x1	ABCC1, ABCC6 +13 more	Copy number loss	not provided	GPathogenic

<< First< Prev

Page of 3