ClinVar for Gene (Select 123803) - ClinVar - NCBI

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

Links from Gene

Items: 1 to 100 of 208

<< First< Prev

Page of 3

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2685558	GRCh37/hg19 16p13.11(chr16:15054175-15319389)x1	NTAN1, PDXDC1 +1 more	Copy number loss	not provided	GUncertain significance
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 2647150	GRCh37/hg19 16p13.11(chr16:14927709-16364041)x1	ABCC1, ABCC6 +13 more	Copy number loss	not provided	GPathogenic
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 2555854	NM_173474.4(NTAN1):c.232G>A (p.Val78Met)	NTAN1, PDXDC1 (V78M)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2528177	NM_173474.4(NTAN1):c.811A>G (p.Thr271Ala)	NTAN1, PDXDC1 (T166A +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
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 2403516	NM_173474.4(NTAN1):c.767C>T (p.Ser256Leu)	NTAN1, PDXDC1 (S256L +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2378209	NM_173474.4(NTAN1):c.326T>C (p.Ile109Thr)	NTAN1, PDXDC1 (I4T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2366762	NM_173474.4(NTAN1):c.677G>A (p.Arg226His)	NTAN1, PDXDC1 (R121H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2353728	NM_173474.4(NTAN1):c.659C>T (p.Ala220Val)	NTAN1, PDXDC1 (A220V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2331349	NM_173474.4(NTAN1):c.905G>C (p.Trp302Ser)	NTAN1, PDXDC1 (W197S +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2288325	NM_173474.4(NTAN1):c.638C>G (p.Pro213Arg)	NTAN1, PDXDC1 (P108R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2260312	NM_173474.4(NTAN1):c.498C>G (p.Asp166Glu)	NTAN1, PDXDC1 (D61E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
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 1807793	GRCh37/hg19 16p13.3-11.2(chr16:4380767-30445350)x3	ABAT, ABCC1 +226 more	Copy number gain	not provided	GPathogenic
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 1703606	GRCh37/hg19 16p13.11(chr16:14927857-16537664)	ABCC1, ABCC6 +13 more	Copy number gain	Autism	GLikely pathogenic
Select item 1690355	NM_173474.4(NTAN1):c.150G>T (p.Gln50His)	NTAN1, PDXDC1 (Q50H)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1684553	GRCh37/hg19 16p13.11(chr16:14886858-16328857)x3	ABCC1, ABCC6 +13 more	Copy number gain	See cases	GLikely pathogenic
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	CEP20, MARF1 +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 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 929344	GRCh37/hg19 16p13.11(chr16:14975292-16291099)x3	CEP20, MARF1 +12 more	Copy number gain	See cases	GLikely pathogenic
Select item 815802	GRCh37/hg19 16p13.11(chr16:14927857-15375547)x3	NOMO1, NPIPA1 +3 more	Copy number gain	not provided	GLikely pathogenic
Select item 815801	GRCh37/hg19 16p13.11(chr16:14910423-15182587)x1	NOMO1, NPIPA1 +3 more	Copy number loss	not provided	GUncertain significance
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	MARF1, BMERB1 +13 more	Copy number gain	not provided	GUncertain significance
Select item 808170	GRCh37/hg19 16p13.11(chr16:14927709-16367932)x3	NOMO3, NPIPA1 +13 more	Copy number gain	not provided	GUncertain significance
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 625597	GRCh37/hg19 16p13.11(chr16:15129970-16284116)	ABCC1, ABCC6 +10 more	Copy number gain	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 564282	GRCh37/hg19 16p13.11(chr16:14899676-16391045)x1	ABCC1, ABCC6 +13 more	Copy number loss	not provided	GPathogenic
Select item 564281	GRCh37/hg19 16p13.11(chr16:14897625-16458408)x1	ABCC1, ABCC6 +13 more	Copy number loss	not provided	GPathogenic
Select item 564280	GRCh37/hg19 16p13.11(chr16:14892880-16521406)x1	ABCC1, ABCC6 +13 more	Copy number loss	not provided	GPathogenic
Select item 564279	GRCh37/hg19 16p13.12-13.11(chr16:14780641-16498084)x1	ABCC1, ABCC6 +16 more	Copy number loss	not provided	GPathogenic
Select item 564278	GRCh37/hg19 16p13.12-12.3(chr16:14780543-16855348)x1	ABCC1, ABCC6 +16 more	Copy number loss	not provided	GPathogenic
Select item 545188	Single allele	ABCC1, ABCC6 +43 more	Duplication	Schizophrenia	GPathogenic
Select item 545187	Single allele	ABCC1, ABCC6 +43 more	Duplication	Schizophrenia	GPathogenic
Select item 545186	NC_000016.10:g.(?_14780667)_(16415941_?)del	MIR3180-1, MIR3180-2 +54 more	Deletion	Schizophrenia	GPathogenic
Select item 545185	NC_000016.10:g.(?_14757009)_(16763184_?)del	ABCC1, ABCC6 +55 more	Deletion	Autism	GPathogenic
Select item 503580	GRCh37/hg19 16p13.11(chr16:14968859-16291983)x3	ABCC1, ABCC6 +12 more	Copy number gain	See cases	GLikely pathogenic
Select item 443984	GRCh37/hg19 16p13.11(chr16:14866284-16391910)x3	ABCC1, ABCC6 +13 more	Copy number gain	See cases	GUncertain significance
Select item 443866	GRCh37/hg19 16p13.11(chr16:14893032-16533107)x3	ABCC1, ABCC6 +13 more	Copy number gain	See cases	GUncertain significance
Select item 443756	GRCh37/hg19 16p13.11(chr16:14866283-16516109)x3	ABCC1, ABCC6 +13 more	Copy number gain	See cases	GUncertain significance
Select item 443654	GRCh37/hg19 16p13.11(chr16:15049968-16391910)x1	ABCC1, ABCC6 +11 more	Copy number loss	See cases	GPathogenic
Select item 443653	GRCh37/hg19 16p13.11(chr16:14888582-16391910)x3	ABCC1, ABCC6 +13 more	Copy number gain	See cases	GUncertain significance

<< First< Prev

Page of 3