NPIPA6[gene] - ClinVar

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Items: 94

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144327	GRCh38/hg38 16p13.3-11.2(chr16:4644892-29170820)x3	ABAT, ABCC1 +852 more	Copy number gain	See cases	GPathogenic
Select item 57619	GRCh38/hg38 16p13.12-12.3(chr16:14609647-18765817)x3	ABCC1, ABCC6 +101 more	Copy number gain	See cases	GUncertain significance
Select item 57620	GRCh38/hg38 16p13.12-13.11(chr16:14639096-16431491)x3	ABCC1, ABCC6 +58 more	Copy number gain	See cases	GUncertain significance
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 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 2498201	Single allele	ABCC1, ABCC6 +57 more	Deletion	16p13.11 recurrent microdeletion syndrome	GLikely pathogenic
Select item 152077	GRCh38/hg38 16p13.12-13.11(chr16:14686278-16431491)x3	ABCC1, ABCC6 +57 more	Copy number gain	See cases	GUncertain significance
Select item 145996	GRCh38/hg38 16p13.11(chr16:14716125-16383721)x1	ABCC1, ABCC6 +56 more	Copy number loss	See cases	GPathogenic
Select item 57625	GRCh38/hg38 16p13.11(chr16:14717194-16508540)x3	ABCC1, ABCC6 +56 more	Copy number gain	See cases	GUncertain significance
Select item 57624	GRCh38/hg38 16p13.11(chr16:14717194-16450842)x3	ABCC1, ABCC6 +56 more	Copy number gain	See cases	GUncertain significance
Select item 545185	NC_000016.10:g.(?_14757009)_(16763184_?)del	ABCC1, ABCC6 +55 more	Deletion	Autism	GPathogenic
Select item 153315	GRCh38/hg38 16p13.11(chr16:14772426-16440033)x3	ABCC1, ABCC6 +54 more	Copy number gain	See cases	GUncertain significance
Select item 545186	NC_000016.10:g.(?_14780667)_(16415941_?)del	ABCC1, ABCC6 +54 more	Deletion	Schizophrenia	GPathogenic
Select item 155253	GRCh38/hg38 16p13.11(chr16:14783830-16431491)x3	ABCC1, ABCC6 +54 more	Copy number gain	See cases	GUncertain significance
Select item 155076	GRCh38/hg38 16p13.11-12.3(chr16:14783830-18536926)x3	ABCC1, ABCC6 +95 more	Copy number gain	See cases	GUncertain significance
Select item 152703	GRCh38/hg38 16p13.11(chr16:14783830-16431491)x4	ABCC1, ABCC6 +54 more	Copy number gain	See cases	GUncertain significance
Select item 152128	GRCh38/hg38 16p13.11(chr16:14783830-16450901)x3	ABCC1, ABCC6 +54 more	Copy number gain	See cases	GUncertain significance
Select item 149202	GRCh38/hg38 16p13.11-12.3(chr16:14783830-18768479)x3	MIR3670-1, MIR3670-2 +96 more	Copy number gain	See cases	GUncertain significance
Select item 148559	GRCh38/hg38 16p13.11-12.3(chr16:14783830-16753905)x3	ABCC1, ABCC6 +54 more	Copy number gain	See cases	GUncertain significance
Select item 148469	GRCh38/hg38 16p13.11-12.3(chr16:14783830-18680735)x3	ABCC1, ABCC6 +96 more	Copy number gain	See cases	GUncertain significance
Select item 148355	GRCh38/hg38 16p13.11(chr16:14783830-16467294)x3	ABCC1, ABCC6 +54 more	Copy number gain	See cases	GUncertain significance
Select item 148334	GRCh38/hg38 16p13.11-12.3(chr16:14783830-16741305)x3	MIR1972-1, MIR3179-1 +54 more	Copy number gain	See cases	GUncertain significance
Select item 155541	GRCh38/hg38 16p13.11(chr16:14794724-16404227)x3	ABCC1, ABCC6 +54 more	Copy number gain	See cases	GUncertain significance
Select item 153650	GRCh38/hg38 16p13.11(chr16:14799023-16440033)x3	ABCC1, ABCC6 +54 more	Copy number gain	See cases	GUncertain significance
Select item 153612	GRCh38/hg38 16p13.11(chr16:14799175-16450562)x3	ABCC1, ABCC6 +54 more	Copy number gain	See cases	GUncertain significance
Select item 152188	GRCh38/hg38 16p13.11(chr16:14799872-16440033)x3	ABCC1, ABCC6 +54 more	Copy number gain	See cases	GUncertain significance
Select item 154289	GRCh38/hg38 16p13.11(chr16:14803768-16400926)x1	ABCC1, ABCC6 +54 more	Copy number loss	See cases	GPathogenic
Select item 155029	GRCh38/hg38 16p13.11(chr16:14803931-16414182)x1	ABCC1, ABCC6 +54 more	Copy number loss	See cases	GPathogenic
Select item 153547	GRCh38/hg38 16p13.11(chr16:14805819-16420254)x1	ABCC1, ABCC6 +54 more	Copy number loss	See cases	GPathogenic
Select item 154272	GRCh38/hg38 16p13.11(chr16:14806274-16440033)x3	ABCC1, ABCC6 +54 more	Copy number gain	See cases	GUncertain significance
Select item 152383	GRCh38/hg38 16p13.11(chr16:14806311-16439385)x3	ABCC1, ABCC6 +54 more	Copy number gain	See cases	GUncertain significance
Select item 153841	GRCh38/hg38 16p13.11(chr16:14806325-16450161)x3	NOMO1, NOMO3 +54 more	Copy number gain	See cases	GUncertain significance
Select item 148975	GRCh38/hg38 16p13.11(chr16:14816259-16431491)x1	ABCC1, ABCC6 +54 more	Copy number loss	See cases	GPathogenic
Select item 2499651	GRCh38/hg38 16p13.11(chr16:14816348-16678513)	ABCC1, ABCC6 +54 more	Copy number gain	Anomalous pulmonary venous return	GUncertain significance
Select item 160930	GRCh38/hg38 16p13.11(chr16:14816348-16431491)x1	ABCC1, ABCC6 +54 more	Copy number loss	See cases	GPathogenic
Select item 160804	GRCh38/hg38 16p13.11(chr16:14816348-16431491)x3	ABCC1, ABCC6 +54 more	Copy number gain	See cases	GUncertain significance
Select item 154498	GRCh38/hg38 16p13.11(chr16:14816348-16678513)x3	ABCC1, ABCC6 +54 more	Copy number gain	See cases	GUncertain significance
Select item 146212	GRCh38/hg38 16p13.11(chr16:14816348-16580464)x3	ABCC1, ABCC6 +54 more	Copy number gain	See cases	GConflicting classifications of pathogenicity
Select item 57294	GRCh38/hg38 16p13.11-12.3(chr16:14816348-18658403)x1	ABCC1, ABCC6 +96 more	Copy number loss	See cases	GPathogenic
Select item 57168	GRCh38/hg38 16p13.11-12.3(chr16:14816348-18047194)x1	ABCC1, ABCC6 +85 more	Copy number loss	See cases	GPathogenic
Select item 32821	GRCh38/hg38 16p13.11(chr16:14816348-16431491)x3	ABCC1, ABCC6 +54 more	Copy number gain	See cases	GUncertain significance
Select item 32196	GRCh38/hg38 16p13.11(chr16:14816348-16633564)x3	ABCC1, ABCC6 +54 more	Copy number gain	See cases	GUncertain significance
Select item 154784	GRCh38/hg38 16p13.11(chr16:14816356-16431517)x1	ABCC1, ABCC6 +54 more	Copy number loss	See cases	GPathogenic
Select item 154755	GRCh38/hg38 16p13.11(chr16:14816356-16648337)x1	ABCC1, ABCC6 +54 more	Copy number loss	See cases	GPathogenic
Select item 58704	GRCh38/hg38 16p13.11-12.3(chr16:14823949-18055828)x1	ABCC1, ABCC6 +85 more	Copy number loss	See cases	GPathogenic
Select item 150622	GRCh38/hg38 16p13.11-12.3(chr16:14832186-16741305)x3	ABCC1, ABCC6 +54 more	Copy number gain	See cases	GUncertain significance
Select item 58085	GRCh38/hg38 16p13.11-12.1(chr16:14954894-28306843)x3	LOC125146428, LOC125146429 +400 more	Copy number gain	See cases	GPathogenic
Select item 545187	Single allele	ABCC1, ABCC6 +43 more	Duplication	Schizophrenia	GPathogenic
Select item 545188	Single allele	ABCC1, ABCC6 +43 more	Duplication	Schizophrenia	GPathogenic
Select item 153858	GRCh38/hg38 16p13.11(chr16:15034128-16427245)x3	ABCC1, ABCC6 +43 more	Copy number gain	See cases	GUncertain significance
Select item 57661	GRCh38/hg38 16p13.11-12.3(chr16:15050263-18212997)x3	ABCC1, ABCC6 +74 more	Copy number gain	See cases	GUncertain significance
Select item 147644	GRCh38/hg38 16p13.11-12.3(chr16:15060830-18535437)x3	ABCC1, ABCC6 +83 more	Copy number gain	See cases	GPathogenic
Select item 59270	GRCh38/hg38 16p13.11-12.3(chr16:15060830-18212997)x3	ABCC1, ABCC6 +73 more	Copy number gain	See cases	GUncertain significance
Select item 545189	Single allele	ABCC1, ABCC6 +83 more	Duplication	Schizophrenia	GPathogenic
Select item 151962	GRCh38/hg38 16p13.11-12.3(chr16:15128213-18577521)x3	ABCC1, ABCC6 +80 more	Copy number gain	See cases	GUncertain significance
Select item 57368	GRCh38/hg38 16p13.11-12.3(chr16:15140576-18658403)x1	ABCC1, ABCC6 +79 more	Copy number loss	See cases	GPathogenic
Select item 3024387	GRCh38/hg38 16p13.11-12.3(chr16:15184811-18708191)	MIR484, MIR6506 +77 more	Copy number loss	Autism spectrum disorder	GPathogenic
Select item 150157	GRCh38/hg38 16p13.11-12.3(chr16:15184811-18535419)x3	ABCC1, ABCC6 +76 more	Copy number gain	See cases	GUncertain significance
Select item 151990	GRCh38/hg38 16p13.11-12.3(chr16:15186140-18068310)x3	ABCC1, ABCC6 +66 more	Copy number gain	See cases	GUncertain significance
Select item 149549	GRCh38/hg38 16p13.11-12.3(chr16:15186140-18768479)x3	ABCC1, ABCC6 +77 more	Copy number gain	See cases	GUncertain significance
Select item 148632	GRCh38/hg38 16p13.11-12.3(chr16:15186140-18783183)x3	ABCC1, ABCC6 +78 more	Copy number gain	See cases	GUncertain significance
Select item 33873	GRCh38/hg38 16p13.11-12.3(chr16:15186140-18658403)x3	ABCC1, ABCC6 +77 more	Copy number gain	See cases	GUncertain significance
Select item 33471	GRCh38/hg38 16p13.11-12.3(chr16:15186140-18620659)x3	ABCC1, ABCC6 +77 more	Copy number gain	See cases	GUncertain significance
Select item 148941	GRCh38/hg38 16p13.11-12.3(chr16:15194583-18236409)x3	ABCC1, ABCC6 +66 more	Copy number gain	See cases	GLikely pathogenic
Select item 148514	GRCh38/hg38 16p13.11-12.3(chr16:15194583-18726698)x3	ABCC1, ABCC6 +77 more	Copy number gain	See cases	GUncertain significance
Select item 148417	GRCh38/hg38 16p13.11-12.3(chr16:15194583-18170423)x3	ABCC6, BMERB1 +66 more	Copy number gain	See cases	GUncertain significance
Select item 148261	GRCh38/hg38 16p13.11-12.3(chr16:15194583-18214016)x3	LOC130058568, LOC130058569 +66 more	Copy number gain	See cases	GUncertain significance
Select item 153938	GRCh38/hg38 16p13.11-12.3(chr16:15218552-18148856)x3	ABCC1, ABCC6 +66 more	Copy number gain	See cases	GUncertain significance
Select item 155098	GRCh38/hg38 16p13.11-12.3(chr16:15222856-18148856)x3	ABCC1, ABCC6 +66 more	Copy number gain	See cases	GUncertain significance
Select item 155349	GRCh38/hg38 16p13.11-12.3(chr16:15223052-18148856)x3	ABCC1, ABCC6 +66 more	Copy number gain	See cases	GUncertain significance
Select item 148377	GRCh38/hg38 16p13.11-12.3(chr16:15261472-18768479)x3	ABCC1, ABCC6 +77 more	Copy number gain	See cases	GUncertain significance
Select item 545190	Single allele	LOC130058577, LOC130058579 +66 more	Duplication	Schizophrenia	GPathogenic
Select item 59273	GRCh38/hg38 16p13.11-12.3(chr16:15299037-18267893)x3	ABCC1, ABCC6 +66 more	Copy number gain	See cases	GUncertain significance
Select item 160987	GRCh38/hg38 16p13.11-12.3(chr16:15310595-18212997)x3	ABCC1, ABCC6 +66 more	Copy number gain	See cases	GUncertain significance
Select item 146180	GRCh38/hg38 16p13.11-12.3(chr16:15310595-18212997)x1	ABCC1, ABCC6 +66 more	Copy number loss	See cases	GPathogenic
Select item 59274	GRCh38/hg38 16p13.11-12.3(chr16:15310595-18620659)x3	MIR3180-3, MIR3670-2 +77 more	Copy number gain	See cases	GUncertain significance
Select item 34854	GRCh38/hg38 16p13.11-12.3(chr16:15310595-18212997)x3	ABCC1, ABCC6 +66 more	Copy number gain	See cases	GUncertain significance
Select item 153194	GRCh38/hg38 16p13.11-12.3(chr16:15325296-18078611)x3	ABCC1, ABCC6 +66 more	Copy number gain	See cases	GUncertain significance
Select item 545192	NC_000016.10:g.(?_15328439)_(16443962_?)del	LOC121847972, LOC121847973 +35 more	Deletion	Schizophrenia	GPathogenic
Select item 149151	GRCh38/hg38 16p13.11(chr16:15345033-16431491)x3	ABCC1, ABCC6 +35 more	Copy number gain	See cases	GUncertain significance
Select item 153954	GRCh38/hg38 16p13.11(chr16:15356432-16364551)x3	ABCC1, ABCC6 +33 more	Copy number gain	See cases	GUncertain significance
Select item 153476	GRCh38/hg38 16p13.11(chr16:15382367-16450562)x3	ABCC1, ABCC6 +34 more	Copy number gain	See cases	GUncertain significance
Select item 151153	GRCh38/hg38 16p13.11(chr16:15388063-16450562)x3	ABCC1, ABCC6 +34 more	Copy number gain	See cases	GUncertain significance
Select item 155137	GRCh38/hg38 16p13.11-12.3(chr16:15398450-18272881)x1	ABCC1, ABCC6 +65 more	Copy number loss	See cases	GPathogenic/Likely pathogenic
Select item 150853	GRCh38/hg38 16p13.11-12.3(chr16:15398450-18068310)x1	ABCC1, ABCC6 +65 more	Copy number loss	See cases	GPathogenic
Select item 149110	GRCh38/hg38 16p13.11-12.3(chr16:15398450-18212997)x1	ABCC1, ABCC6 +65 more	Copy number loss	See cases	GLikely pathogenic
Select item 59277	GRCh38/hg38 16p13.11-12.3(chr16:15398460-18047194)x3	ABCC1, ABCC6 +65 more	Copy number gain	See cases	GUncertain significance
Select item 58731	GRCh38/hg38 16p13.11-12.3(chr16:15434653-18055828)x1	ABCC1, ABCC6 +64 more	Copy number loss	See cases	GPathogenic
Select item 58730	GRCh38/hg38 16p13.11-12.3(chr16:15434653-18055828)x3	ABCC1, ABCC6 +64 more	Copy number gain	See cases	GUncertain significance
Select item 149876	GRCh38/hg38 16p13.11-12.3(chr16:15457205-18212984)x1	ABCC1, ABCC6 +64 more	Copy number loss	See cases	GPathogenic
Select item 161075	GRCh38/hg38 16p13.11-12.3(chr16:15457445-18047194)x3	LOC126862300, LOC126862301 +64 more	Copy number gain	See cases	GUncertain significance
Select item 154462	GRCh38/hg38 16p13.11-12.3(chr16:15457445-18047194)x1	ABCC1, ABCC6 +64 more	Copy number loss	See cases	GPathogenic
Select item 147339	GRCh38/hg38 16p13.11(chr16:15457445-16633564)x3	ABCC1, ABCC6 +33 more	Copy number gain	See cases	GUncertain significance
Select item 57438	GRCh38/hg38 16p13.11-12.3(chr16:15457445-18658403)x3	ABCC1, ABCC6 +75 more	Copy number gain	See cases	GUncertain significance

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Items: 94