ClinVar for Gene (Select 147111) - ClinVar

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Links from Gene

Items: 63

	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 3201421	NM_178493.6(NOTUM):c.878G>A (p.Arg293His)	NOTUM (R293H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3201420	NM_178493.6(NOTUM):c.774G>C (p.Gln258His)	NOTUM (Q258H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3201419	NM_178493.6(NOTUM):c.590A>G (p.Lys197Arg)	NOTUM (K197R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3201418	NM_178493.6(NOTUM):c.1394A>G (p.Gln465Arg)	NOTUM (Q465R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3201417	NM_178493.6(NOTUM):c.109C>T (p.Pro37Ser)	NOTUM (P37S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2685609	GRCh37/hg19 17q25.3(chr17:79128754-80092824)x1	AATK, ACTG1 +41 more	Copy number loss	not provided	GLikely pathogenic
Select item 2648476	NM_178493.6(NOTUM):c.891C>T (p.Tyr297=)	NOTUM	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2621602	NM_178493.6(NOTUM):c.1121C>T (p.Thr374Ile)	NOTUM (T374I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2595074	NM_178493.6(NOTUM):c.1132G>T (p.Val378Leu)	NOTUM (V378L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2594942	NM_178493.6(NOTUM):c.985C>T (p.Arg329Cys)	NOTUM (R329C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2548402	NM_178493.6(NOTUM):c.364C>T (p.Leu122Phe)	NOTUM (L122F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2540090	NM_178493.6(NOTUM):c.1225C>G (p.Arg409Gly)	NOTUM (R409G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2533183	NM_178493.6(NOTUM):c.309C>G (p.Asp103Glu)	NOTUM (D103E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2521838	NM_178493.6(NOTUM):c.1387G>A (p.Val463Met)	NOTUM (V463M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2520315	NM_178493.6(NOTUM):c.95A>G (p.Gln32Arg)	NOTUM (Q32R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2512768	NM_178493.6(NOTUM):c.1115G>A (p.Arg372His)	NOTUM (R372H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2485865	NM_178493.6(NOTUM):c.104C>G (p.Pro35Arg)	NOTUM (P35R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2445210	Single allele	FOXK2, GCGR +51 more	Deletion	See cases	GPathogenic
Select item 2425655	NC_000017.10:g.(?_79891090)_(80333370_?)del	ASPSCR1, CCDC57 +17 more	Deletion	not provided	GPathogenic
Select item 2424500	NC_000017.10:g.(?_79477716)_(80900339_?)dup	MAFG, MCRIP1 +52 more	Duplication	not provided	GUncertain significance
Select item 2395163	NM_178493.6(NOTUM):c.103C>T (p.Pro35Ser)	NOTUM (P35S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2386315	NM_178493.6(NOTUM):c.914G>A (p.Arg305His)	NOTUM (R305H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2372519	NM_178493.6(NOTUM):c.1328C>T (p.Pro443Leu)	NOTUM (P443L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2357755	NM_178493.6(NOTUM):c.1280C>T (p.Thr427Ile)	NOTUM (T427I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2353557	NM_178493.6(NOTUM):c.901G>A (p.Val301Met)	NOTUM (V301M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2345810	NM_178493.6(NOTUM):c.980C>T (p.Thr327Ile)	NOTUM (T327I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2345262	NM_178493.6(NOTUM):c.11G>A (p.Gly4Glu)	NOTUM (G4E)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2337038	NM_178493.6(NOTUM):c.1108G>A (p.Glu370Lys)	NOTUM (E370K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2325802	NM_178493.6(NOTUM):c.1226G>T (p.Arg409Leu)	NOTUM (R409L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2323987	NM_178493.6(NOTUM):c.149A>C (p.Glu50Ala)	NOTUM (E50A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2314269	NM_178493.6(NOTUM):c.1167T>G (p.His389Gln)	NOTUM (H389Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2312954	NM_178493.6(NOTUM):c.98C>T (p.Pro33Leu)	NOTUM (P33L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2269116	NM_178493.6(NOTUM):c.410A>G (p.Asp137Gly)	NOTUM (D137G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2258312	NM_178493.6(NOTUM):c.1375C>A (p.Gln459Lys)	NOTUM (Q459K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2254874	NM_178493.6(NOTUM):c.449G>A (p.Arg150Gln)	NOTUM (R150Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2250147	NM_178493.6(NOTUM):c.110C>G (p.Pro37Arg)	NOTUM (P37R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2245027	NM_178493.6(NOTUM):c.236C>T (p.Pro79Leu)	NOTUM (P79L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2225691	NM_178493.6(NOTUM):c.1408A>T (p.Met470Leu)	NOTUM (M470L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2208128	NM_178493.6(NOTUM):c.535T>C (p.Phe179Leu)	NOTUM (F179L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1701331	GRCh37/hg19 17q25.1-25.3(chr17:73481509-81043199)x3	CDK3, PRCD +146 more	Copy number gain	not provided	GPathogenic
Select item 811047	NM_178493.6(NOTUM):c.1279A>G (p.Thr427Ala)	NOTUM (T427A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 747602	NM_178493.6(NOTUM):c.824G>A (p.Arg275His)	NOTUM (R275H)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 714076	NM_178493.6(NOTUM):c.855C>T (p.Cys285=)	NOTUM	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
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 687727	GRCh37/hg19 17q25.3(chr17:78608912-81041938)x3	AATK, ACTG1 +65 more	Copy number gain	not provided	GPathogenic
Select item 687520	GRCh37/hg19 17q25.3(chr17:79663313-80197463)x3	ALYREF, ANAPC11 +26 more	Copy number gain	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 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 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 154540	GRCh38/hg38 17q25.3(chr17:81859688-82017612)x1	ALYREF, ANAPC11 +40 more	Copy number loss	See cases	GBenign
Select item 153720	GRCh38/hg38 17q25.3(chr17:81401966-83084062)x1	ACTG1, ALYREF +226 more	Copy number loss	See cases	GLikely pathogenic
Select item 149717	GRCh38/hg38 17q25.3(chr17:81008196-83102584)x3	AATK, ACTG1 +262 more	Copy number gain	See cases	GPathogenic
Select item 60175	GRCh38/hg38 17q25.3(chr17:81885863-82358856)x3	LOC130062008, LOC130062009 +95 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 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

Result Filters

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Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

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Links from Gene

Items: 63