LOC129390771[gene] - ClinVar

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Search results

Items: 51

	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 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 155076	GRCh38/hg38 16p13.11-12.3(chr16:14783830-18536926)x3	ABCC1, ABCC6 +95 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 148469	GRCh38/hg38 16p13.11-12.3(chr16:14783830-18680735)x3	ABCC1, ABCC6 +96 more	Copy number gain	See cases	GUncertain significance
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 58704	GRCh38/hg38 16p13.11-12.3(chr16:14823949-18055828)x1	ABCC1, ABCC6 +85 more	Copy number loss	See cases	GPathogenic
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 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 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 57438	GRCh38/hg38 16p13.11-12.3(chr16:15457445-18658403)x3	ABCC1, ABCC6 +75 more	Copy number gain	See cases	GUncertain significance
Select item 58733	GRCh38/hg38 16p13.11-12.3(chr16:16450841-18203371)x1	LOC126862301, LOC102723692 +29 more	Copy number loss	See cases	GPathogenic
Select item 148258	GRCh38/hg38 16p13.11-12.3(chr16:16541781-18768479)x3	LOC102723692, LOC111365165 +40 more	Copy number gain	See cases	GUncertain significance
Select item 149137	GRCh38/hg38 16p12.3(chr16:16753846-18768479)x3	LOC102723692, LOC111365165 +40 more	Copy number gain	See cases	GUncertain significance

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Items: 51