Related gene-specific medical variations for Gene (Select 100873975) - ClinVar

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Links from Gene

Items: 49

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 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 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 3043952	NM_175607.3(CNTN4):c.2715C>T (p.Pro905=)	CNTN4, CNTN4-AS1	Single nucleotide variant (synonymous variant)	CNTN4-related condition	GLikely benign
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 2653443	NM_175607.3(CNTN4):c.2787T>C (p.Asn929=)	CNTN4, CNTN4-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 condition	GUncertain significance
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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 1287127	NM_175607.3(CNTN4):c.2512-218A>T	CNTN4, CNTN4-AS1	Single nucleotide variant (intron variant)	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 1286508	NM_175607.3(CNTN4):c.*137G>C	CNTN4, CNTN4-AS1	Single nucleotide variant (3 prime UTR 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 1281257	NM_175607.3(CNTN4):c.2512-221T>G	CNTN4, CNTN4-AS1	Single nucleotide variant (intron variant)	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 1276669	NM_175607.3(CNTN4):c.2398+181G>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 1262848	NM_175607.3(CNTN4):c.2398+48T>A	CNTN4, CNTN4-AS1	Single nucleotide variant (intron variant +1 more)	not provided	GBenign
Select item 1252819	NM_175607.3(CNTN4):c.2980+300dup	CNTN4, CNTN4-AS1	Duplication (intron variant)	not provided	GBenign
Select item 1244560	NM_175607.3(CNTN4):c.2698+157C>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)	CNTN4-related condition +1 more	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 1221661	NM_175607.3(CNTN4):c.2398+4T>C	CNTN4, CNTN4-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 more	GBenign
Select item 1182930	NM_175607.3(CNTN4):c.2812-87G>A	CNTN4, CNTN4-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1177914	NM_175607.3(CNTN4):c.2511+41A>G	CNTN4, CNTN4-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
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 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 749326	NM_175607.3(CNTN4):c.2919G>A (p.Lys973=)	CNTN4, CNTN4-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 735464	NM_175607.3(CNTN4):c.2868A>G (p.Thr956=)	CNTN4, CNTN4-AS1	Single nucleotide variant (synonymous variant)	CNTN4-related condition +1 more	GBenign/Likely benign
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 +1 more	GLikely benign
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 729492	NM_175607.3(CNTN4):c.2577G>A (p.Gln859=)	CNTN4, CNTN4-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign

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Links from Gene

Items: 49