CNTN4-AS1[gene] - ClinVar

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Items: 94

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 154175	GRCh38/hg38 3p26.3-25.3(chr3:20213-9362037)x1	ARL8B, BHLHE40 +172 more	Copy number loss	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 155258	GRCh38/hg38 3p26.3-25.3(chr3:32241-10323124)x1	ARL8B, ARPC4 +263 more	Copy number loss	See cases	GPathogenic
Select item 155106	GRCh38/hg38 3p26.3-25.3(chr3:32241-10631310)x1	ARL8B, ARPC4 +271 more	Copy number loss	See cases	GPathogenic
Select item 152808	GRCh38/hg38 3p26.3-25.3(chr3:32241-8165256)x3	ARL8B, BHLHE40 +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	ARL8B, BHLHE40 +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	ARL8B, BHLHE40 +181 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	LOC129936092, LOC129936093 +134 more	Copy number loss	See cases	GPathogenic
Select item 149085	GRCh38/hg38 3p26.3-25.2(chr3:32241-12681483)x1	ARL8B, ARPC4 +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	LOC129936198, LOC129936199 +647 more	Copy number gain	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 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 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 146281	GRCh38/hg38 3p26.3-26.1(chr3:52266-5138262)x1	ARL8B, BHLHE40 +102 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	LOC129936421, LOC129936422 +962 more	Copy number gain	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 153415	GRCh38/hg38 3p26.3-22.1(chr3:53308-41381521)x3	ACAA1, ACVR2B +1111 more	Copy number gain	See cases	GPathogenic
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 155639	GRCh38/hg38 3p26.3-25.3(chr3:688897-11051142)x1	ARL8B, ARPC4 +274 more	Copy number loss	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
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 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 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 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 154282	GRCh38/hg38 3p26.2(chr3:2847667-3320817)x3	CNTN4, CNTN4-AS1 +17 more	Copy number gain	See cases	GUncertain significance
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 147406	GRCh38/hg38 3p26.2-26.1(chr3:2920886-5861108)x1	ARL8B, BHLHE40 +107 more	Copy number loss	See cases	GPathogenic
Select item 1288342	NM_175607.3(CNTN4):c.2164-205A>G	CNTN4, CNTN4-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 1278521	NM_175607.3(CNTN4):c.2164-177C>T	CNTN4, CNTN4-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 1286695	NM_175607.3(CNTN4):c.2193A>T (p.Arg731=)	CNTN4, CNTN4-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 790523	NM_175607.3(CNTN4):c.2205T>C (p.Tyr735=)	CNTN4, CNTN4-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 1288044	NM_175607.3(CNTN4):c.2268T>C (p.Asp756=)	CNTN4, CNTN4-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 3146761	NM_175607.3(CNTN4):c.2269G>A (p.Ala757Thr)	CNTN4, CNTN4-AS1 (A429T +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 1023974	NM_175607.3(CNTN4):c.2295G>C (p.Glu765Asp)	CNTN4, CNTN4-AS1 (E436D +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2529789	NM_175607.3(CNTN4):c.2326A>G (p.Lys776Glu)	CNTN4, CNTN4-AS1 (K448E +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 1221661	NM_175607.3(CNTN4):c.2398+4T>C	CNTN4, CNTN4-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 1262848	NM_175607.3(CNTN4):c.2398+48T>A	CNTN4, CNTN4-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 1288739	NM_175607.3(CNTN4):c.2398+70G>T	CNTN4, CNTN4-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 1276669	NM_175607.3(CNTN4):c.2398+181G>A	CNTN4, CNTN4-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 734423	NM_175607.3(CNTN4):c.2450A>T (p.Asp817Val)	CNTN4, CNTN4-AS1 (D488V +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2396175	NM_175607.3(CNTN4):c.2479G>A (p.Glu827Lys)	CNTN4, CNTN4-AS1 (E498K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1177914	NM_175607.3(CNTN4):c.2511+41A>G	CNTN4, CNTN4-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1283437	NM_175607.3(CNTN4):c.2511+165T>C	CNTN4, CNTN4-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1222103	NM_175607.3(CNTN4):c.2511+173C>T	CNTN4, CNTN4-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1281257	NM_175607.3(CNTN4):c.2512-221T>G	CNTN4, CNTN4-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1287127	NM_175607.3(CNTN4):c.2512-218A>T	CNTN4, CNTN4-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1242402	NM_175607.3(CNTN4):c.2512-8C>T	CNTN4, CNTN4-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 2632847	NM_175607.3(CNTN4):c.2525G>C (p.Arg842Thr)	CNTN4, CNTN4-AS1 (R513T +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	CNTN4-related disorder	GUncertain significance
Select item 2474488	NM_175607.3(CNTN4):c.2538A>C (p.Lys846Asn)	CNTN4, CNTN4-AS1 (K517N +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 729492	NM_175607.3(CNTN4):c.2577G>A (p.Gln859=)	CNTN4, CNTN4-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2588195	NM_175607.3(CNTN4):c.2594C>T (p.Thr865Met)	CNTN4, CNTN4-AS1 (T536M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2343692	NM_175607.3(CNTN4):c.2598C>G (p.Asn866Lys)	CNTN4, CNTN4-AS1 (N538K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2258686	NM_175607.3(CNTN4):c.2626G>A (p.Ala876Thr)	CNTN4, CNTN4-AS1 (A547T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2688805	NM_175607.3(CNTN4):c.2698+1G>A	CNTN4, CNTN4-AS1	Single nucleotide variant (splice donor variant)	not provided	GUncertain significance
Select item 1244560	NM_175607.3(CNTN4):c.2698+157C>T	CNTN4, CNTN4-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3043952	NM_175607.3(CNTN4):c.2715C>T (p.Pro905=)	CNTN4, CNTN4-AS1	Single nucleotide variant (synonymous variant)	CNTN4-related disorder	GLikely benign
Select item 3146764	NM_175607.3(CNTN4):c.2716G>A (p.Gly906Arg)	CNTN4, CNTN4-AS1 (G577R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2297616	NM_175607.3(CNTN4):c.2726T>C (p.Ile909Thr)	CNTN4, CNTN4-AS1 (I580T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2483981	NM_175607.3(CNTN4):c.2737T>G (p.Ser913Ala)	CNTN4, CNTN4-AS1 (S585A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2551641	NM_175607.3(CNTN4):c.2770G>A (p.Val924Met)	CNTN4, CNTN4-AS1 (V595M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2653443	NM_175607.3(CNTN4):c.2787T>C (p.Asn929=)	CNTN4, CNTN4-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3146765	NM_175607.3(CNTN4):c.2798T>G (p.Val933Gly)	CNTN4, CNTN4-AS1 (V604G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 145953	GRCh38/hg38 3p26.2(chr3:3048683-3077797)x3	CNTN4, CNTN4-AS1 +1 more	Copy number gain	See cases	GLikely benign
Select item 1182930	NM_175607.3(CNTN4):c.2812-87G>A	CNTN4, CNTN4-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1265754	NM_175607.3(CNTN4):c.2812-50G>C	CNTN4, CNTN4-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2485833	NM_175607.3(CNTN4):c.2819A>T (p.Tyr940Phe)	CNTN4, CNTN4-AS1 (Y612F +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 735464	NM_175607.3(CNTN4):c.2868A>G (p.Thr956=)	CNTN4, CNTN4-AS1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 740074	NM_175607.3(CNTN4):c.2892C>T (p.Phe964=)	CNTN4, CNTN4-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2600857	NM_175607.3(CNTN4):c.2893G>A (p.Asp965Asn)	CNTN4, CNTN4-AS1 (D965N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2368244	NM_175607.3(CNTN4):c.2905A>G (p.Ile969Val)	CNTN4, CNTN4-AS1 (I969V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 749326	NM_175607.3(CNTN4):c.2919G>A (p.Lys973=)	CNTN4, CNTN4-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2209384	NM_175607.3(CNTN4):c.2948G>A (p.Ser983Asn)	CNTN4, CNTN4-AS1 (S655N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3268296	NM_175607.3(CNTN4):c.2959A>G (p.Ile987Val)	CNTN4, CNTN4-AS1 (I987V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1252819	NM_175607.3(CNTN4):c.2980+300dup	CNTN4, CNTN4-AS1	Duplication (intron variant)	not provided	GBenign
Select item 731344	NM_175607.3(CNTN4):c.2981-8C>T	CNTN4, CNTN4-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3146766	NM_175607.3(CNTN4):c.3004G>A (p.Ala1002Thr)	CNTN4, CNTN4-AS1 (A673T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3146767	NM_175607.3(CNTN4):c.3040A>G (p.Ser1014Gly)	CNTN4, CNTN4-AS1 (S1014G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1286508	NM_175607.3(CNTN4):c.*137G>C	CNTN4, CNTN4-AS1	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 153379	GRCh38/hg38 3p26.2(chr3:3060140-3263298)x1	CNTN4-AS1, CRBN +9 more	Copy number loss	See cases	GUncertain significance

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Items: 94