NOTUM[gene] and "single gene"[properties] - ClinVar

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Items: 40

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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

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Items: 40