21356[HGNC] - ClinVar

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Items: 47

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154960	GRCh38/hg38 17q11.2(chr17:28947825-32490020)x1	ABHD15, ADAP2 +202 more	Copy number loss	See cases	GPathogenic
Select item 2351335	NM_032854.4(CORO6):c.1412C>A (p.Thr471Lys)	CORO6 (T429K +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2386369	NM_032854.4(CORO6):c.1408G>C (p.Gly470Arg)	CORO6 (G429R +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2229512	NM_032854.4(CORO6):c.1387A>G (p.Met463Val)	CORO6 (M388V +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3076410	NM_032854.4(CORO6):c.1348G>C (p.Val450Leu)	CORO6 (V450L +5 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 221307	NM_032854.4(CORO6):c.1348G>A (p.Val450Met)	CORO6 (V450M +5 more)	Single nucleotide variant (missense variant +1 more)	Breast ductal adenocarcinoma	GUncertain significance
Select item 2539459	NM_032854.4(CORO6):c.1346G>A (p.Arg449Gln)	CORO6 (R214Q +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2461599	NM_032854.4(CORO6):c.1262G>A (p.Arg421His)	CORO6 (R346H +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2222292	NM_032854.4(CORO6):c.1241G>A (p.Arg414His)	CORO6 (R373H +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2598864	NM_032854.4(CORO6):c.1180G>C (p.Gly394Arg)	CORO6 (G319R +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2541434	NM_032854.4(CORO6):c.1178A>G (p.Asp393Gly)	CORO6 (D159G +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2226123	NM_032854.4(CORO6):c.1175G>T (p.Arg392Met)	CORO6 (R317M +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2348627	NM_032854.4(CORO6):c.1106C>G (p.Pro369Arg)	CORO6 (P135R +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3076408	NM_032854.4(CORO6):c.1100C>G (p.Pro367Arg)	CORO6 (P133R +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2528155	NM_032854.4(CORO6):c.1028A>G (p.Lys343Arg)	CORO6 (K303R +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2392254	NM_032854.4(CORO6):c.1024A>G (p.Arg342Gly)	CORO6 (R301G +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2489618	NM_032854.4(CORO6):c.901C>T (p.Pro301Ser)	CORO6 (P226S +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3076417	NM_032854.4(CORO6):c.837C>G (p.Ser279Arg)	CORO6 (S279R +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2330624	NM_032854.4(CORO6):c.832T>G (p.Ser278Ala)	CORO6 (S238A +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2378680	NM_032854.4(CORO6):c.773T>C (p.Val258Ala)	CORO6 (V218A +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2411293	NM_032854.4(CORO6):c.751C>T (p.Pro251Ser)	CORO6 (P210S +1 more)	Single nucleotide variant (5 prime UTR variant +3 more)	not specified	GUncertain significance
Select item 2299531	NM_032854.4(CORO6):c.722T>A (p.Met241Lys)	CORO6 (M200K +1 more)	Single nucleotide variant (5 prime UTR variant +3 more)	not specified	GUncertain significance
Select item 3076415	NM_032854.4(CORO6):c.671G>C (p.Arg224Pro)	CORO6 (R183P +1 more)	Single nucleotide variant (5 prime UTR variant +3 more)	not specified	GUncertain significance
Select item 3076414	NM_032854.4(CORO6):c.664C>G (p.Pro222Ala)	CORO6 (P181A +1 more)	Single nucleotide variant (5 prime UTR variant +3 more)	not specified	GUncertain significance
Select item 3076413	NM_032854.4(CORO6):c.632C>T (p.Ala211Val)	CORO6 (A170V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2531573	NM_032854.4(CORO6):c.599G>T (p.Arg200Leu)	CORO6 (R159L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2308686	NM_032854.4(CORO6):c.409C>T (p.Leu137Phe)	CORO6 (L96F +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2379241	NM_032854.4(CORO6):c.377C>T (p.Thr126Ile)	CORO6 (T126I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2399507	NM_032854.4(CORO6):c.353G>A (p.Arg118His)	CORO6 (R118H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2320571	NM_032854.4(CORO6):c.347C>G (p.Pro116Arg)	CORO6 (P116R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3076412	NM_032854.4(CORO6):c.319A>C (p.Met107Leu)	CORO6 (M107L)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2354221	NM_032854.4(CORO6):c.316A>T (p.Ile106Phe)	CORO6 (I106F)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2257137	NM_032854.4(CORO6):c.203G>A (p.Gly68Glu)	CORO6 (G68E)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2551831	NM_032854.4(CORO6):c.170G>T (p.Gly57Val)	CORO6 (G57V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3076411	NM_032854.4(CORO6):c.166G>A (p.Gly56Arg)	CORO6 (G56R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3076409	NM_032854.4(CORO6):c.124G>A (p.Val42Ile)	CORO6 (V42I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3076416	NM_032854.4(CORO6):c.7A>G (p.Arg3Gly)	CORO6 (R3G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2427184	NC_000017.10:g.(?_26684694)_(29701173_?)dup	ABHD15, ADAP2 +54 more	Duplication	not provided	GUncertain significance
Select item 2422714	NC_000017.10:g.(?_27573882)_(29576157_?)del	ABHD15, ADAP2 +21 more	Deletion	Neurofibromatosis, type 1	GPathogenic
Select item 1526572	GRCh37/hg19 17p11.2-q11.2(chr17:21690653-28281232)	ABHD15, ALDOC +49 more	Copy number gain	not specified	GPathogenic
Select item 980157	GRCh37/hg19 17q11.2(chr17:27573641-28206747)x3	TAOK1, SSH2 +7 more	Copy number gain	not provided	GUncertain significance
Select item 815920	GRCh37/hg19 17q11.1-11.2(chr17:25274363-28450707)x3	ABHD15, ALDOC +49 more	Copy number gain	not provided	GPathogenic
Select item 686144	GRCh37/hg19 17p11.2-q21.2(chr17:21690653-38772647)x3	AATF, ABHD15 +201 more	Copy number gain	not provided	GPathogenic
Select item 624545	GRCh37/hg19 17q11.1-11.2(chr17:25403446-31685464)x3	ABHD15, ADAP2 +80 more	Copy number gain	not provided	GLikely pathogenic
Select item 523166	GRCh37/hg19 17q11.1-11.2(chr17:25248166-30645676)x1	LYRM9, MIR144 +72 more	Copy number loss	Mitogen-activated protein kinase kinase inhibitor response	Gdrug response
Select item 441816	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3	EFTUD2, EIF1 +1143 more	Copy number gain	See cases	GPathogenic
Select item 441815	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)	KRT15, KRT16 +1143 more	Copy number gain	See cases	GPathogenic

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Items: 47