18807[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154089	GRCh38/hg38 17p13.3-12(chr17:150732-14764202)x3	ABR, ABR-AS1 +962 more	Copy number gain	See cases	GPathogenic
Select item 153177	GRCh38/hg38 17p13.3-13.2(chr17:150732-5935377)x1	ABR, ABR-AS1 +463 more	Copy number loss	See cases	GPathogenic
Select item 149531	GRCh38/hg38 17p13.3-12(chr17:162016-12343901)x3	LOC130059883, LOC130059884 +922 more	Copy number gain	See cases	GPathogenic
Select item 149158	GRCh38/hg38 17p13.3-13.1(chr17:162016-7697012)x1	TRARG1, TRPV1 +651 more	Copy number loss	See cases	GPathogenic
Select item 144699	GRCh38/hg38 17p13.3-13.1(chr17:162088-6959050)x1	ABR, ABR-AS1 +498 more	Copy number loss	See cases	GPathogenic
Select item 2579287	GRCh38/hg38 17p13.3-12(chr17:165730-11404096)x3	SAT2, SCARF1 +911 more	Copy number gain	Chromosome 17p13.3 duplication syndrome	GPathogenic
Select item 59542	GRCh38/hg38 17p13.3-13.2(chr17:193307-5652222)x1	LOC121848004, LOC121848005 +457 more	Copy number loss	See cases	GPathogenic
Select item 145642	GRCh38/hg38 17p13.3-13.1(chr17:198748-7491129)x3	LOC130059937, LOC130059938 +604 more	Copy number gain	See cases	GPathogenic
Select item 144239	GRCh38/hg38 17p13.3-13.2(chr17:2062380-5258340)x1	CAMKK1, CAMTA2 +303 more	Copy number loss	See cases	GPathogenic
Select item 59563	GRCh38/hg38 17p13.2-13.1(chr17:3601515-7178024)x1	AIPL1, ALOX12 +290 more	Copy number loss	See cases	GPathogenic
Select item 146235	GRCh38/hg38 17p13.2(chr17:4044302-5943772)x1	ALOX15, ANKFY1 +166 more	Copy number loss	See cases	GLikely pathogenic
Select item 150854	GRCh38/hg38 17p13.2(chr17:4092608-5354473)x3	ALOX15, ANKFY1 +141 more	Copy number gain	See cases	GLikely benign
Select item 1679759	Single allele	C17orf107, C17orf114 +68 more	Duplication	7p22.1 microduplication syndrome	GUncertain significance
Select item 153248	GRCh38/hg38 17p13.2(chr17:4915519-5197126)x1	CAMTA2, CAMTA2-AS1 +48 more	Copy number loss	See cases	GLikely pathogenic
Select item 3136935	NM_015099.4(CAMTA2):c.*12C>T	CAMTA2, LOC126862471 (P1230S)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3263096	NM_015099.4(CAMTA2):c.*10C>T	CAMTA2, LOC126862471 (P1229L)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3136934	NM_015099.4(CAMTA2):c.3594G>C (p.Pro1198=)	CAMTA2, LOC126862471 (G1221R)	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 2281097	NM_015099.4(CAMTA2):c.3582G>A (p.Gly1194=)	CAMTA2, LOC126862471 (A1217T)	Single nucleotide variant (synonymous variant +1 more)	not specified	GUncertain significance
Select item 2247091	NM_015099.4(CAMTA2):c.3567C>T (p.Asn1189=)	CAMTA2, LOC126862471 (P1212S)	Single nucleotide variant (synonymous variant +1 more)	not specified	GUncertain significance
Select item 2331054	NM_015099.4(CAMTA2):c.3538C>G (p.Arg1180Gly)	CAMTA2, LOC126862471 (R1179G +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2406294	NM_015099.4(CAMTA2):c.3248G>A (p.Arg1083Gln)	CAMTA2, LOC126862471 (R1083Q +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3234593	NM_015099.4(CAMTA2):c.3243T>C (p.Cys1081=)	CAMTA2, LOC126862471	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2485286	NM_015099.4(CAMTA2):c.3194G>A (p.Arg1065Gln)	CAMTA2, LOC126862471 (R1064Q +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3136932	NM_015099.4(CAMTA2):c.3130G>A (p.Glu1044Lys)	CAMTA2, LOC126862471 (E1044K +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2326367	NM_015099.4(CAMTA2):c.3013C>T (p.Pro1005Ser)	CAMTA2 (P1004S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2231872	NM_015099.4(CAMTA2):c.3007G>A (p.Glu1003Lys)	CAMTA2 (E1005K +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2350151	NM_015099.4(CAMTA2):c.3001C>G (p.Pro1001Ala)	CAMTA2 (P1024A +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3263091	NM_015099.4(CAMTA2):c.2890G>A (p.Glu964Lys)	CAMTA2 (E963K +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2352172	NM_015099.4(CAMTA2):c.2878G>A (p.Val960Met)	CAMTA2 (V959M +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2291670	NM_015099.4(CAMTA2):c.2858G>T (p.Arg953Leu)	CAMTA2 (R952L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2617912	NM_015099.4(CAMTA2):c.2842G>A (p.Glu948Lys)	CAMTA2 (E947K +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2569760	NM_015099.4(CAMTA2):c.2815A>G (p.Met939Val)	CAMTA2 (M941V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2383705	NM_015099.4(CAMTA2):c.2712G>C (p.Lys904Asn)	CAMTA2 (K904N +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2455673	NM_015099.4(CAMTA2):c.2699C>G (p.Ala900Gly)	CAMTA2 (A899G +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2355256	NM_015099.4(CAMTA2):c.2644G>C (p.Gly882Arg)	CAMTA2 (G884R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2359900	NM_015099.4(CAMTA2):c.2633A>G (p.Asp878Gly)	CAMTA2 (D880G +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2487637	NM_015099.4(CAMTA2):c.2615C>T (p.Ser872Phe)	CAMTA2 (S872F +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2485610	NM_015099.4(CAMTA2):c.2554G>T (p.Val852Phe)	CAMTA2 (V852F +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2377267	NM_015099.4(CAMTA2):c.2554G>A (p.Val852Ile)	CAMTA2 (V852I +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2381106	NM_015099.4(CAMTA2):c.2551T>C (p.Ser851Pro)	CAMTA2 (S851P +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3136929	NM_015099.4(CAMTA2):c.2437C>G (p.Gln813Glu)	CAMTA2 (Q813E +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3136928	NM_015099.4(CAMTA2):c.2411G>T (p.Arg804Leu)	CAMTA2 (R806L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2350766	NM_015099.4(CAMTA2):c.2410C>T (p.Arg804Cys)	CAMTA2 (R806C +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2616248	NM_015099.4(CAMTA2):c.2344G>A (p.Ala782Thr)	CAMTA2 (A782T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2494841	NM_015099.4(CAMTA2):c.2330G>C (p.Arg777Pro)	CAMTA2 (R777P +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2362578	NM_015099.4(CAMTA2):c.2330G>A (p.Arg777His)	CAMTA2 (R776H +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3136927	NM_015099.4(CAMTA2):c.2315C>T (p.Ala772Val)	CAMTA2 (A771V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2349203	NM_015099.4(CAMTA2):c.2252A>C (p.Asn751Thr)	CAMTA2 (N751T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 711183	NM_015099.4(CAMTA2):c.2247G>A (p.Pro749=)	CAMTA2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2212645	NM_015099.4(CAMTA2):c.2182G>A (p.Glu728Lys)	CAMTA2 (E751K +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3136926	NM_015099.4(CAMTA2):c.2138G>A (p.Ser713Asn)	CAMTA2 (S712N +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2207778	NM_015099.4(CAMTA2):c.2128C>T (p.Arg710Trp)	CAMTA2 (R710W +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3263094	NM_015099.4(CAMTA2):c.2114A>G (p.His705Arg)	CAMTA2 (H705R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3136925	NM_015099.4(CAMTA2):c.2105G>A (p.Arg702His)	CAMTA2 (R702H +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2252614	NM_015099.4(CAMTA2):c.2081G>A (p.Arg694His)	CAMTA2 (R693H +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2372143	NM_015099.4(CAMTA2):c.2057T>A (p.Val686Asp)	CAMTA2 (V685D +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 722146	NM_015099.4(CAMTA2):c.1983G>A (p.Val661=)	CAMTA2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 391986	NM_015099.4(CAMTA2):c.1765+1G>A	CAMTA2	Single nucleotide variant (splice donor variant)	not provided	GUncertain significance
Select item 3136923	NM_015099.4(CAMTA2):c.1764C>T (p.Pro588=)	CAMTA2	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 2490760	NM_015099.4(CAMTA2):c.1739C>T (p.Pro580Leu)	CAMTA2 (P579L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2606920	NM_015099.4(CAMTA2):c.1738C>G (p.Pro580Ala)	CAMTA2 (P579A +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3136922	NM_015099.4(CAMTA2):c.1714G>A (p.Ala572Thr)	CAMTA2 (A571T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3263093	NM_015099.4(CAMTA2):c.1688A>G (p.His563Arg)	CAMTA2 (H586R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3136921	NM_015099.4(CAMTA2):c.1681G>A (p.Ala561Thr)	CAMTA2 (A584T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2213321	NM_015099.4(CAMTA2):c.1675G>A (p.Glu559Lys)	CAMTA2 (E558K +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3263101	NM_015099.4(CAMTA2):c.1667C>T (p.Pro556Leu)	CAMTA2 (P558L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3263100	NM_015099.4(CAMTA2):c.1560C>G (p.Ser520Arg)	CAMTA2 (S519R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3263098	NM_015099.4(CAMTA2):c.1529T>C (p.Met510Thr)	CAMTA2 (M510T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3136920	NM_015099.4(CAMTA2):c.1478T>C (p.Val493Ala)	CAMTA2 (V516A +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3136919	NM_015099.4(CAMTA2):c.1477G>A (p.Val493Ile)	CAMTA2 (V495I +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3263092	NM_015099.4(CAMTA2):c.1424C>T (p.Pro475Leu)	CAMTA2 (P477L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3136917	NM_015099.4(CAMTA2):c.1393C>T (p.Pro465Ser)	CAMTA2 (P465S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3136916	NM_015099.4(CAMTA2):c.1385T>C (p.Ile462Thr)	CAMTA2 (I461T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3136915	NM_015099.4(CAMTA2):c.1378C>G (p.Pro460Ala)	CAMTA2 (P459A +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3263090	NM_015099.4(CAMTA2):c.1330A>C (p.Ile444Leu)	CAMTA2 (I443L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3263095	NM_015099.4(CAMTA2):c.1204G>A (p.Glu402Lys)	CAMTA2 (E425K +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2487040	NM_015099.4(CAMTA2):c.1175G>T (p.Gly392Val)	CAMTA2 (G394V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2591407	NM_015099.4(CAMTA2):c.1102C>T (p.Pro368Ser)	CAMTA2 (P367S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2291101	NM_015099.4(CAMTA2):c.1087G>A (p.Glu363Lys)	CAMTA2 (E363K +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 773587	NM_015099.4(CAMTA2):c.1029C>T (p.His343=)	CAMTA2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2250980	NM_015099.4(CAMTA2):c.944G>A (p.Arg315Gln)	CAMTA2 (R315Q +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2313793	NM_015099.4(CAMTA2):c.926C>G (p.Pro309Arg)	CAMTA2 (P309R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2213819	NM_015099.4(CAMTA2):c.856G>A (p.Ala286Thr)	CAMTA2 (A286T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3136938	NM_015099.4(CAMTA2):c.854A>G (p.Lys285Arg)	CAMTA2 (K287R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2551732	NM_015099.4(CAMTA2):c.838C>G (p.Pro280Ala)	CAMTA2 (P280A +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2477746	NM_015099.4(CAMTA2):c.838C>T (p.Pro280Ser)	CAMTA2 (P282S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2313792	NM_015099.4(CAMTA2):c.828A>G (p.Ile276Met)	CAMTA2 (I276M +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3136937	NM_015099.4(CAMTA2):c.808C>G (p.Pro270Ala)	CAMTA2 (P269A +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1270598	NM_015099.4(CAMTA2):c.799G>C (p.Ala267Pro)	CAMTA2 (A266P +3 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3234188	NM_015099.4(CAMTA2):c.729C>T (p.Ser243=)	CAMTA2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2388245	NM_015099.4(CAMTA2):c.691G>C (p.Gly231Arg)	CAMTA2 (G233R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3136936	NM_015099.4(CAMTA2):c.532C>T (p.Arg178Trp)	CAMTA2 (R178W +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2606290	NM_015099.4(CAMTA2):c.532C>G (p.Arg178Gly)	CAMTA2 (R177G +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2521960	NM_015099.4(CAMTA2):c.470A>G (p.Lys157Arg)	CAMTA2 (K156R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 777270	NM_015099.4(CAMTA2):c.411+9G>T	CAMTA2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2592131	NM_015099.4(CAMTA2):c.187T>C (p.Cys63Arg)	CAMTA2 (C65R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3136924	NM_015099.4(CAMTA2):c.119G>A (p.Arg40Gln)	CAMTA2 (R40Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3263097	NM_015099.4(CAMTA2):c.95C>G (p.Pro32Arg)	CAMTA2 (P34R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2371950	NM_015099.4(CAMTA2):c.65A>G (p.Lys22Arg)	CAMTA2 (K22R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3263089	NM_015099.4(CAMTA2):c.5A>C (p.Asn2Thr)	CAMTA2 (N25T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance

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