ClinVar for Gene (Select 126806594) - ClinVar

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Links from Gene

Items: 37

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155639	GRCh38/hg38 3p26.3-25.3(chr3:688897-11051142)x1	ARL8B, ARPC4 +274 more	Copy number loss	See cases	GPathogenic
Select item 155258	GRCh38/hg38 3p26.3-25.3(chr3:32241-10323124)x1	MTMR14, OGG1 +263 more	Copy number loss	See cases	GPathogenic
Select item 155106	GRCh38/hg38 3p26.3-25.3(chr3:32241-10631310)x1	LOC129936144, LOC129936145 +271 more	Copy number loss	See cases	GPathogenic
Select item 154452	GRCh38/hg38 3p26.3-26.1(chr3:52266-5966084)x3	ARL8B, BHLHE40 +126 more	Copy number gain	See cases	GPathogenic
Select item 154441	GRCh38/hg38 3p26.1(chr3:4952791-5689195)x3	ARL8B, BHLHE40 +43 more	Copy number gain	See cases	GLikely benign
Select item 154175	GRCh38/hg38 3p26.3-25.3(chr3:20213-9362037)x1	ARL8B, BHLHE40 +172 more	Copy number loss	See cases	GPathogenic
Select item 153453	GRCh38/hg38 3p26.2-26.1(chr3:3383802-6623172)x3	ARL8B, BHLHE40 +92 more	Copy number gain	See cases	GUncertain significance
Select item 153415	GRCh38/hg38 3p26.3-22.1(chr3:53308-41381521)x3	LOC129936377, LOC129936378 +1111 more	Copy number gain	See cases	GPathogenic
Select item 153284	GRCh38/hg38 3p26.3-25.3(chr3:20213-11221602)x1	ARL8B, ARPC4 +286 more	Copy number loss	See cases	GPathogenic
Select item 153151	GRCh38/hg38 3p26.2-26.1(chr3:2891585-5911622)x1	ARL8B, BHLHE40 +107 more	Copy number loss	See cases	GPathogenic
Select item 152808	GRCh38/hg38 3p26.3-25.3(chr3:32241-8165256)x3	LOC126806585, LOC126806586 +139 more	Copy number gain	See cases	GLikely pathogenic
Select item 152256	GRCh38/hg38 3p26.3-25.3(chr3:32241-9066287)x1	ARL8B, BHLHE40 +162 more	Copy number loss	See cases	GPathogenic
Select item 151534	GRCh38/hg38 3p26.3-25.3(chr3:32241-9574994)x1	LOC129936120, LOC129936121 +184 more	Copy number loss	See cases	GPathogenic
Select item 150707	GRCh38/hg38 3p26.1(chr3:5480212-6021456)x3	LOC121009636, LOC126806594 +2 more	Copy number gain	See cases	GLikely benign
Select item 150393	GRCh38/hg38 3p26.3-25.3(chr3:32241-9469506)x1	LOC100130207, LOC101927394 +181 more	Copy number loss	See cases	GPathogenic
Select item 150281	GRCh38/hg38 3p26.3-25.3(chr3:52747-8370373)x1	ARL8B, BHLHE40 +141 more	Copy number loss	See cases	GPathogenic
Select item 150031	GRCh38/hg38 3p26.3-25.1(chr3:32241-13613818)x3	ARL8B, ARPC4 +406 more	Copy number gain	See cases	GPathogenic
Select item 149555	GRCh38/hg38 3p26.3-26.1(chr3:32241-6065999)x1	ARL8B, BHLHE40 +126 more	Copy number loss	See cases	GPathogenic
Select item 149331	GRCh38/hg38 3p26.3-25.3(chr3:32241-11379835)x1	ARL8B, ARPC4 +291 more	Copy number loss	See cases	GPathogenic
Select item 149236	GRCh38/hg38 3p26.3-26.1(chr3:32241-7056717)x1	ARL8B, BHLHE40 +134 more	Copy number loss	See cases	GPathogenic
Select item 149085	GRCh38/hg38 3p26.3-25.2(chr3:32241-12681483)x1	LOC112935932, LOC112935963 +331 more	Copy number loss	See cases	GPathogenic
Select item 148942	GRCh38/hg38 3p26.3-24.1(chr3:32241-30064208)x3	ANKRD28, ARL8B +799 more	Copy number gain	See cases	GPathogenic
Select item 148876	GRCh38/hg38 3p26.3-24.3(chr3:32241-20334387)x3	LOC129936094, LOC129936095 +647 more	Copy number gain	See cases	GPathogenic
Select item 148215	GRCh38/hg38 3p26.1(chr3:4803434-6476213)x3	ARL8B, BHLHE40 +54 more	Copy number gain	See cases	GUncertain significance
Select item 148015	GRCh38/hg38 3p26.3-25.3(chr3:52266-9450310)x1	ARL8B, BHLHE40 +181 more	Copy number loss	See cases	GPathogenic
Select item 147496	GRCh38/hg38 3p26.3-26.1(chr3:52266-6277604)x1	ARL8B, BHLHE40 +126 more	Copy number loss	See cases	GPathogenic
Select item 147406	GRCh38/hg38 3p26.2-26.1(chr3:2920886-5861108)x1	LOC129936104, LOC129936105 +107 more	Copy number loss	See cases	GPathogenic
Select item 144853	GRCh38/hg38 3p26.3-26.1(chr3:32241-5791120)x1	ARL8B, BHLHE40 +126 more	Copy number loss	See cases	GPathogenic
Select item 144430	GRCh38/hg38 3p26.1(chr3:5480153-6021420)x3	LOC121009636, LOC126806594 +2 more	Copy number gain	See cases	GUncertain significance
Select item 57977	GRCh38/hg38 3p26.3-24.3(chr3:63843-19510600)x3	LOC110120630, LOC111429626 +608 more	Copy number gain	See cases	GPathogenic
Select item 57738	GRCh38/hg38 3p26.3-25.3(chr3:63843-8258109)x1	ARL8B, BHLHE40 +140 more	Copy number loss	See cases	GPathogenic
Select item 57736	GRCh38/hg38 3p26.3-25.3(chr3:63843-9507969)x1	ARL8B, BHLHE40 +184 more	Copy number loss	See cases	GPathogenic
Select item 57735	GRCh38/hg38 3p26.3-26.1(chr3:63843-6977502)x1	ARL8B, BHLHE40 +134 more	Copy number loss	See cases	GPathogenic
Select item 57734	GRCh38/hg38 3p26.3-25.3(chr3:52266-8582037)x1	ARL8B, BHLHE40 +144 more	Copy number loss	See cases	GPathogenic
Select item 57708	GRCh38/hg38 3p26.3-25.3(chr3:52266-11089569)x1	ARL8B, ARPC4 +281 more	Copy number loss	See cases	GPathogenic
Select item 57397	GRCh38/hg38 3p26.3-22.2(chr3:52266-37148076)x3	ANKRD28, ARL8B +962 more	Copy number gain	See cases	GPathogenic
Select item 57172	GRCh38/hg38 3p26.3-26.1(chr3:1984526-6852981)x1	ARL8B, BHLHE40 +120 more	Copy number loss	See cases	GPathogenic

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Links from Gene

Items: 37