ClinVar for Gene (Select 126806588) - ClinVar

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Links from Gene

Items: 48

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2510614	NM_175607.3(CNTN4):c.2128G>A (p.Gly710Arg)	CNTN4, LOC126806588 (G382R +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1279497	NM_175607.3(CNTN4):c.2093-90C>T	CNTN4, LOC126806588	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1275201	NM_175607.3(CNTN4):c.2093-165G>A	CNTN4, LOC126806588	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1272534	NM_175607.3(CNTN4):c.2093-6G>C	CNTN4, LOC126806588	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1230031	NM_175607.3(CNTN4):c.2093-108C>T	CNTN4, LOC126806588	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 731751	NM_175607.3(CNTN4):c.2097C>T (p.Pro699=)	CNTN4, LOC126806588	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 155626	GRCh38/hg38 3p26.3-26.2(chr3:20213-3244317)x1	CHL1, CHL1-AS1 +37 more	Copy number loss	See cases	GUncertain significance
Select item 155549	GRCh38/hg38 3p26.3-26.2(chr3:2740571-3165943)x3	CNTN4, CNTN4-AS1 +15 more	Copy number gain	See cases	GUncertain significance
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 154669	GRCh38/hg38 3p26.3-26.1(chr3:52266-4827490)x1	CHL1, CHL1-AS1 +72 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 154346	GRCh38/hg38 3p26.3-26.2(chr3:2709002-3057632)x1	CNTN4, CNTN4-AS1 +7 more	Copy number loss	See cases	GUncertain significance
Select item 154282	GRCh38/hg38 3p26.2(chr3:2847667-3320817)x3	CNTN4, CNTN4-AS1 +17 more	Copy number gain	See cases	GUncertain significance
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 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 150610	GRCh38/hg38 3p26.3-26.2(chr3:32241-3355776)x1	CHL1, CHL1-AS1 +36 more	Copy number loss	See cases	GLikely pathogenic
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 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 146281	GRCh38/hg38 3p26.3-26.1(chr3:52266-5138262)x1	ARL8B, BHLHE40 +102 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 60049	GRCh38/hg38 3p26.3-26.2(chr3:2301168-3219257)x1	CNTN4, CNTN4-AS1 +22 more	Copy number loss	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 57737	GRCh38/hg38 3p26.3-26.1(chr3:63843-4708786)x1	CHL1, CHL1-AS1 +66 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 57693	GRCh38/hg38 3p26.3-26.2(chr3:2577647-3615783)x3	CNTN4, CNTN4-AS1 +22 more	Copy number gain	See cases	GUncertain significance
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: 48