NOTUM[gene] - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 65

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 155275	GRCh38/hg38 17q24.3-25.3(chr17:69916435-83102552)x3	AANAT, AATK +1013 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
Select item 57263	GRCh38/hg38 17q25.3(chr17:78901959-83086677)x3	AATK, ACTG1 +387 more	Copy number gain	See cases	GPathogenic
Select item 58714	GRCh38/hg38 17q25.3(chr17:78918650-83021095)x3	AATK, ACTG1 +385 more	Copy number gain	See cases	GPathogenic
Select item 149717	GRCh38/hg38 17q25.3(chr17:81008196-83102584)x3	AATK, ACTG1 +262 more	Copy number gain	See cases	GPathogenic
Select item 153720	GRCh38/hg38 17q25.3(chr17:81401966-83084062)x1	ACTG1, ALYREF +226 more	Copy number loss	See cases	GLikely pathogenic
Select item 154540	GRCh38/hg38 17q25.3(chr17:81859688-82017612)x1	ALYREF, ANAPC11 +40 more	Copy number loss	See cases	GBenign
Select item 60175	GRCh38/hg38 17q25.3(chr17:81885863-82358856)x3	LOC130062008, LOC130062009 +95 more	Copy number gain	See cases	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 3201418	NM_178493.6(NOTUM):c.1394A>G (p.Gln465Arg)	NOTUM (Q465R)	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 2258312	NM_178493.6(NOTUM):c.1375C>A (p.Gln459Lys)	NOTUM (Q459K)	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 811047	NM_178493.6(NOTUM):c.1279A>G (p.Thr427Ala)	NOTUM (T427A)	Single nucleotide variant (missense variant)	not provided	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 2540090	NM_178493.6(NOTUM):c.1225C>G (p.Arg409Gly)	NOTUM (R409G)	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 2595074	NM_178493.6(NOTUM):c.1132G>T (p.Val378Leu)	NOTUM (V378L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2512768	NM_178493.6(NOTUM):c.1115G>A (p.Arg372His)	NOTUM (R372H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 3300520	NM_178493.6(NOTUM):c.1021G>A (p.Glu341Lys)	NOTUM (E341K)	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 2345810	NM_178493.6(NOTUM):c.980C>T (p.Thr327Ile)	NOTUM (T327I)	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 2353557	NM_178493.6(NOTUM):c.901G>A (p.Val301Met)	NOTUM (V301M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2648476	NM_178493.6(NOTUM):c.891C>T (p.Tyr297=)	NOTUM	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 714076	NM_178493.6(NOTUM):c.855C>T (p.Cys285=)	NOTUM	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 747602	NM_178493.6(NOTUM):c.824G>A (p.Arg275His)	NOTUM (R275H)	Single nucleotide variant (missense variant)	not provided	GBenign
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 2208128	NM_178493.6(NOTUM):c.535T>C (p.Phe179Leu)	NOTUM (F179L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3300521	NM_178493.6(NOTUM):c.451G>A (p.Asp151Asn)	NOTUM (D151N)	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 2269116	NM_178493.6(NOTUM):c.410A>G (p.Asp137Gly)	NOTUM (D137G)	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 2533183	NM_178493.6(NOTUM):c.309C>G (p.Asp103Glu)	NOTUM (D103E)	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 2323987	NM_178493.6(NOTUM):c.149A>C (p.Glu50Ala)	NOTUM (E50A)	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 3201417	NM_178493.6(NOTUM):c.109C>T (p.Pro37Ser)	NOTUM (P37S)	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 2395163	NM_178493.6(NOTUM):c.103C>T (p.Pro35Ser)	NOTUM (P35S)	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 2520315	NM_178493.6(NOTUM):c.95A>G (p.Gln32Arg)	NOTUM (Q32R)	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 3243134	NC_000017.10:g.(?_79477716)_(80901020_?)dup	ACTG1, ALYREF +52 more	Duplication	not provided	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 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	ACTG1, ALYREF +52 more	Duplication	not provided	GUncertain significance
Select item 1701331	GRCh37/hg19 17q25.1-25.3(chr17:73481509-81043199)x3	EVPL, EXOC7 +146 more	Copy number gain	not provided	GPathogenic
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	ALOX12, ALOX12B +1143 more	Copy number gain	See cases	GPathogenic
Select item 441815	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)	SPEM2, TBCD +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

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 65