ClinVar for Gene (Select 64122) - ClinVar

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Links from Gene

Items: 71

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3243134	NC_000017.10:g.(?_79477716)_(80901020_?)dup	ACTG1, ALYREF +52 more	Duplication	not provided	GUncertain significance
Select item 3242977	NC_000017.10:g.(?_80039865)_(80901020_?)dup	CCDC57, CD7 +18 more	Duplication	Epileptic encephalopathy	GUncertain significance
Select item 3095967	NM_022158.4(FN3K):c.854A>C (p.Tyr285Ser)	FN3K (Y285S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3095965	NM_022158.4(FN3K):c.761G>C (p.Gly254Ala)	FN3K (G254A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3095964	NM_022158.4(FN3K):c.727G>A (p.Glu243Lys)	FN3K (E243K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3095963	NM_022158.4(FN3K):c.239C>T (p.Pro80Leu)	FN3K (P80L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2684860	GRCh37/hg19 17q25.3(chr17:80678790-80943685)x3	B3GNTL1, FN3K +3 more	Copy number gain	not provided	GUncertain significance
Select item 2671602	Single allele	ASPSCR1, B3GNTL1 +28 more	Duplication	not provided	GUncertain significance
Select item 2617553	NM_022158.4(FN3K):c.506C>T (p.Ala169Val)	FN3K (A169V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2600387	NM_022158.4(FN3K):c.823C>G (p.Gln275Glu)	FN3K (Q275E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2593999	NM_022158.4(FN3K):c.905G>C (p.Gly302Ala)	FN3K (G302A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2571007	GRCh37/hg19 17q25.3(chr17:80656331-81009672)x3	B3GNTL1, FN3K +4 more	Copy number gain	not provided	GUncertain significance
Select item 2535729	NM_022158.4(FN3K):c.433T>C (p.Phe145Leu)	FN3K (F145L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2513984	NM_022158.4(FN3K):c.358A>G (p.Lys120Glu)	FN3K (K120E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2499662	GRCh38/hg38 17q25.3(chr17:82004063-83087346)	ASPSCR1, B3GNTL1 +130 more	Copy number loss	Anomalous pulmonary venous return	GUncertain significance
Select item 2445210	Single allele	FOXK2, GCGR +51 more	Deletion	See cases	GPathogenic
Select item 2424500	NC_000017.10:g.(?_79477716)_(80900339_?)dup	MAFG, MCRIP1 +52 more	Duplication	not provided	GUncertain significance
Select item 2423509	NC_000017.10:g.(?_80332201)_(80758892_?)dup	CYBC1, FN3K +10 more	Duplication	not provided	GUncertain significance
Select item 2411066	NM_022158.4(FN3K):c.826C>G (p.Arg276Gly)	FN3K (R276G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2405487	NM_022158.4(FN3K):c.508C>T (p.Arg170Trp)	FN3K (R170W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2402608	NM_022158.4(FN3K):c.524C>T (p.Ala175Val)	FN3K (A175V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2380852	NM_022158.4(FN3K):c.454G>A (p.Gly152Ser)	FN3K (G152S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2365568	NM_022158.4(FN3K):c.400G>T (p.Gly134Cys)	FN3K (G134C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2362583	NM_022158.4(FN3K):c.792C>A (p.His264Gln)	FN3K (H264Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2339672	NM_022158.4(FN3K):c.38C>T (p.Thr13Ile)	FN3K (T13I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2334712	NM_022158.4(FN3K):c.7C>G (p.Gln3Glu)	FN3K (Q3E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2274108	NM_022158.4(FN3K):c.794G>A (p.Arg265Gln)	FN3K (R265Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2237119	NM_022158.4(FN3K):c.847T>C (p.Phe283Leu)	FN3K (F283L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2225077	NM_022158.4(FN3K):c.245G>A (p.Gly82Asp)	FN3K (G82D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2216146	NM_022158.4(FN3K):c.770G>A (p.Arg257Lys)	FN3K (R257K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1808572	GRCh37/hg19 17q25.3(chr17:80585033-81041938)x3	B3GNTL1, FN3K +6 more	Copy number gain	not provided	GUncertain significance
Select item 1707631	GRCh37/hg19 17q25.3(chr17:80509676-81162701)x3	B3GNTL1, FN3K +7 more	Copy number gain	Isolated anorectal malformation	GLikely pathogenic
Select item 1701331	GRCh37/hg19 17q25.1-25.3(chr17:73481509-81043199)x3	AFMID, LRRC45 +146 more	Copy number gain	not provided	GPathogenic
Select item 1526589	GRCh37/hg19 17q25.3(chr17:79976464-81041938)	B3GNTL1, CCDC57 +27 more	Copy number loss	not specified	GUncertain significance
Select item 1341991	GRCh37/hg19 17q25.3(chr17:80583397-81044553)x1	B3GNTL1, FN3K +6 more	Copy number loss	not provided	GLikely pathogenic
Select item 1340721	GRCh37/hg19 17q25.3(chr17:80555363-81041938)x1	B3GNTL1, FN3K +7 more	Copy number loss	not provided	GUncertain significance
Select item 1340494	GRCh37/hg19 17q25.3(chr17:80396464-80698039)x3	CYBC1, FN3K +6 more	Copy number gain	not provided	GUncertain significance
Select item 1098564	GRCh38/hg38 17q25.3(chr17:82586979-83257441)x1	B3GNTL1, FN3KRP +40 more	Copy number loss	See cases	GUncertain significance
Select item 988934	GRCh37/hg19 17q25.3(chr17:80544251-81152210)x1	B3GNTL1, FN3K +7 more	Copy number loss	not provided	GUncertain significance
Select item 689209	GRCh37/hg19 17q24.1-25.3(chr17:62778720-81041938)x3	AANAT, AATK +226 more	Copy number gain	not provided	GPathogenic
Select item 688507	GRCh37/hg19 17q25.3(chr17:80488965-81041938)x1	B3GNTL1, FN3K +7 more	Copy number loss	not provided	GUncertain significance
Select item 687727	GRCh37/hg19 17q25.3(chr17:78608912-81041938)x3	AATK, ACTG1 +65 more	Copy number gain	not provided	GPathogenic
Select item 564480	GRCh37/hg19 17q25.3(chr17:80555321-81041938)x1	B3GNTL1, FN3K +7 more	Copy number loss	not provided	GUncertain significance
Select item 564479	GRCh37/hg19 17q25.3(chr17:80489175-81041938)x1	ZNF750, TBCD +7 more	Copy number loss	not provided	GUncertain significance
Select item 564476	GRCh37/hg19 17q25.3(chr17:76552611-81041938)x3	AATK, ACTG1 +88 more	Copy number gain	not provided	GLikely pathogenic
Select item 564463	GRCh37/hg19 17q24.1-25.3(chr17:63689671-81041938)x3	AANAT, AATK +222 more	Copy number gain	not provided	GPathogenic
Select item 443559	GRCh37/hg19 17q25.3(chr17:80623111-80840332)x1	FN3K, FN3KRP +3 more	Copy number loss	See cases	GUncertain significance
Select item 443488	GRCh37/hg19 17q24.2-25.3(chr17:67002415-81041938)x3	AANAT, AATK +202 more	Copy number gain	See cases	GPathogenic
Select item 443446	GRCh37/hg19 17q25.1-25.3(chr17:73951701-81041938)x3	AANAT, AATK +128 more	Copy number gain	See cases	GPathogenic
Select item 442988	GRCh37/hg19 17q25.3(chr17:80558676-81041938)x1	B3GNTL1, FN3K +7 more	Copy number loss	See cases	GUncertain significance
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
Select item 395646	GRCh37/hg19 17q21.31-25.3(chr17:42580684-81085615)x3	AANAT, AATK +458 more	Copy number gain	See cases	GPathogenic
Select item 155275	GRCh38/hg38 17q24.3-25.3(chr17:69916435-83102552)x3	AANAT, AATK +1013 more	Copy number gain	See cases	GPathogenic
Select item 154076	GRCh38/hg38 17q25.3(chr17:82597445-83084062)x1	B3GNTL1, FN3K +35 more	Copy number loss	See cases	GUncertain significance
Select item 153720	GRCh38/hg38 17q25.3(chr17:81401966-83084062)x1	ACTG1, ALYREF +226 more	Copy number loss	See cases	GLikely pathogenic
Select item 153662	GRCh38/hg38 17q25.3(chr17:82597488-83084062)x1	B3GNTL1, FN3K +35 more	Copy number loss	See cases	GUncertain significance
Select item 153487	GRCh38/hg38 17q25.3(chr17:82326074-82856150)x3	LOC130062057, LOC130062058 +54 more	Copy number gain	See cases	GUncertain significance
Select item 151145	GRCh38/hg38 17q25.3(chr17:82531299-83084062)x1	B3GNTL1, FN3K +40 more	Copy number loss	See cases	GUncertain significance
Select item 149717	GRCh38/hg38 17q25.3(chr17:81008196-83102584)x3	AATK, ACTG1 +262 more	Copy number gain	See cases	GPathogenic
Select item 149274	GRCh38/hg38 17q25.3(chr17:82625521-83056395)x1	B3GNTL1, FN3K +31 more	Copy number loss	See cases	GUncertain significance
Select item 148397	GRCh38/hg38 17q25.3(chr17:82625521-83102552)x1	B3GNTL1, FN3K +32 more	Copy number loss	See cases	GUncertain significance
Select item 148281	GRCh38/hg38 17q25.3(chr17:82072338-83102552)x1	LOC130062052, LOC130062053 +112 more	Copy number loss	See cases	GLikely pathogenic
Select item 146404	GRCh38/hg38 17q25.3(chr17:82452776-83102552)x3	B3GNTL1, FN3K +48 more	Copy number gain	See cases	GUncertain significance
Select item 58714	GRCh38/hg38 17q25.3(chr17:78918650-83021095)x3	AATK, ACTG1 +385 more	Copy number gain	See cases	GPathogenic
Select item 58703	GRCh38/hg38 17q24.3-25.3(chr17:69209079-83086677)x3	MIR636, MIR6516 +1033 more	Copy number gain	See cases	GPathogenic
Select item 58301	GRCh38/hg38 17q25.3(chr17:82588128-83061939)x1	B3GNTL1, FN3K +36 more	Copy number loss	See cases	GUncertain significance
Select item 58300	GRCh38/hg38 17q25.3(chr17:82523093-83072065)x1	B3GNTL1, FN3K +39 more	Copy number loss	See cases	GUncertain significance
Select item 57460	GRCh38/hg38 17q25.3(chr17:82549058-83086677)x1	B3GNTL1, FN3K +39 more	Copy number loss	See cases	GUncertain significance
Select item 57263	GRCh38/hg38 17q25.3(chr17:78901959-83086677)x3	AATK, ACTG1 +387 more	Copy number gain	See cases	GPathogenic
Select item 57076	GRCh38/hg38 17q25.3(chr17:78092236-83086677)x3	AATK, ACTG1 +513 more	Copy number gain	See cases	GPathogenic

ClinVar

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Links from Gene

Items: 71