NOMO1[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155643	GRCh38/hg38 16p13.3-13.11(chr16:666662-15743104)x3	ABAT, ABCA3 +926 more	Copy number gain	See cases	GPathogenic
Select item 144327	GRCh38/hg38 16p13.3-11.2(chr16:4644892-29170820)x3	ABAT, ABCC1 +852 more	Copy number gain	See cases	GPathogenic
Select item 148522	GRCh38/hg38 16p13.13-13.11(chr16:11952467-15186199)x1	BFAR, CPPED1 +113 more	Copy number loss	See cases	GLikely pathogenic
Select item 58701	GRCh38/hg38 16p13.13-13.11(chr16:11967831-15162888)x1	BFAR, CPPED1 +110 more	Copy number loss	See cases	GPathogenic
Select item 57619	GRCh38/hg38 16p13.12-12.3(chr16:14609647-18765817)x3	ABCC1, ABCC6 +101 more	Copy number gain	See cases	GUncertain significance
Select item 57620	GRCh38/hg38 16p13.12-13.11(chr16:14639096-16431491)x3	ABCC1, ABCC6 +58 more	Copy number gain	See cases	GUncertain significance
Select item 57622	GRCh38/hg38 16p13.12-13.11(chr16:14668382-16100721)x3	ABCC1, BFAR +45 more	Copy number gain	See cases	GUncertain significance
Select item 3235906	GRCh38/hg38 16p13.12-13.11(chr16:15032610-16203929)	ABCC1, ABCC6 +57 more	Copy number gain	16p13.11 microduplication syndrome	GLikely pathogenic
Select item 3235935	GRCh38/hg38 16p13.12-12.3(chr16:15034129-16187150)	ABCC1, ABCC6 +58 more	Copy number gain	16p13.11 microduplication syndrome	GLikely pathogenic
Select item 2500752	NC_000016.10:g.14683149_16205174dup	ABCC1, ABCC6 +46 more	Duplication	not specified	GUncertain significance
Select item 2498201	Single allele	ABCC1, ABCC6 +57 more	Deletion	16p13.11 recurrent microdeletion syndrome	GLikely pathogenic
Select item 152077	GRCh38/hg38 16p13.12-13.11(chr16:14686278-16431491)x3	ABCC1, ABCC6 +57 more	Copy number gain	See cases	GUncertain significance
Select item 145996	GRCh38/hg38 16p13.11(chr16:14716125-16383721)x1	ABCC1, ABCC6 +56 more	Copy number loss	See cases	GPathogenic
Select item 57625	GRCh38/hg38 16p13.11(chr16:14717194-16508540)x3	ABCC1, ABCC6 +56 more	Copy number gain	See cases	GUncertain significance
Select item 57624	GRCh38/hg38 16p13.11(chr16:14717194-16450842)x3	ABCC1, ABCC6 +56 more	Copy number gain	See cases	GUncertain significance
Select item 545185	NC_000016.10:g.(?_14757009)_(16763184_?)del	ABCC1, ABCC6 +55 more	Deletion	Autism	GPathogenic
Select item 153315	GRCh38/hg38 16p13.11(chr16:14772426-16440033)x3	ABCC1, ABCC6 +54 more	Copy number gain	See cases	GUncertain significance
Select item 153386	GRCh38/hg38 16p13.11(chr16:14772427-16298053)x1	ABCC1, ABCC6 +45 more	Copy number loss	See cases	GPathogenic
Select item 545186	NC_000016.10:g.(?_14780667)_(16415941_?)del	ABCC1, ABCC6 +54 more	Deletion	Schizophrenia	GPathogenic
Select item 155253	GRCh38/hg38 16p13.11(chr16:14783830-16431491)x3	ABCC1, ABCC6 +54 more	Copy number gain	See cases	GUncertain significance
Select item 155076	GRCh38/hg38 16p13.11-12.3(chr16:14783830-18536926)x3	ABCC1, ABCC6 +95 more	Copy number gain	See cases	GUncertain significance
Select item 152703	GRCh38/hg38 16p13.11(chr16:14783830-16431491)x4	ABCC1, ABCC6 +54 more	Copy number gain	See cases	GUncertain significance
Select item 152128	GRCh38/hg38 16p13.11(chr16:14783830-16450901)x3	ABCC1, ABCC6 +54 more	Copy number gain	See cases	GUncertain significance
Select item 149520	GRCh38/hg38 16p13.11(chr16:14783830-16198378)x1	ABCC1, ABCC6 +43 more	Copy number loss	See cases	GPathogenic
Select item 149202	GRCh38/hg38 16p13.11-12.3(chr16:14783830-18768479)x3	MIR3670-1, MIR3670-2 +96 more	Copy number gain	See cases	GUncertain significance
Select item 149045	GRCh38/hg38 16p13.11(chr16:14783830-16234088)x1	ABCC1, ABCC6 +44 more	Copy number loss	See cases	GPathogenic
Select item 148735	GRCh38/hg38 16p13.11(chr16:14783830-16268850)x3	ABCC1, ABCC6 +44 more	Copy number gain	See cases	GUncertain significance
Select item 148559	GRCh38/hg38 16p13.11-12.3(chr16:14783830-16753905)x3	ABCC1, ABCC6 +54 more	Copy number gain	See cases	GUncertain significance
Select item 148469	GRCh38/hg38 16p13.11-12.3(chr16:14783830-18680735)x3	ABCC1, ABCC6 +96 more	Copy number gain	See cases	GUncertain significance
Select item 148355	GRCh38/hg38 16p13.11(chr16:14783830-16467294)x3	ABCC1, ABCC6 +54 more	Copy number gain	See cases	GUncertain significance
Select item 148334	GRCh38/hg38 16p13.11-12.3(chr16:14783830-16741305)x3	MIR1972-1, MIR3179-1 +54 more	Copy number gain	See cases	GUncertain significance
Select item 155541	GRCh38/hg38 16p13.11(chr16:14794724-16404227)x3	ABCC1, ABCC6 +54 more	Copy number gain	See cases	GUncertain significance
Select item 153650	GRCh38/hg38 16p13.11(chr16:14799023-16440033)x3	ABCC1, ABCC6 +54 more	Copy number gain	See cases	GUncertain significance
Select item 153612	GRCh38/hg38 16p13.11(chr16:14799175-16450562)x3	ABCC1, ABCC6 +54 more	Copy number gain	See cases	GUncertain significance
Select item 152188	GRCh38/hg38 16p13.11(chr16:14799872-16440033)x3	ABCC1, ABCC6 +54 more	Copy number gain	See cases	GUncertain significance
Select item 153310	GRCh38/hg38 16p13.11(chr16:14802528-16236815)x1	ABCC1, ABCC6 +44 more	Copy number loss	See cases	GPathogenic
Select item 154289	GRCh38/hg38 16p13.11(chr16:14803768-16400926)x1	ABCC1, ABCC6 +54 more	Copy number loss	See cases	GPathogenic
Select item 155029	GRCh38/hg38 16p13.11(chr16:14803931-16414182)x1	ABCC1, ABCC6 +54 more	Copy number loss	See cases	GPathogenic
Select item 154161	GRCh38/hg38 16p13.11(chr16:14803931-16199448)x3	ABCC1, ABCC6 +43 more	Copy number gain	See cases	GUncertain significance
Select item 153547	GRCh38/hg38 16p13.11(chr16:14805819-16420254)x1	ABCC1, ABCC6 +54 more	Copy number loss	See cases	GPathogenic
Select item 154272	GRCh38/hg38 16p13.11(chr16:14806274-16440033)x3	ABCC1, ABCC6 +54 more	Copy number gain	See cases	GUncertain significance
Select item 152383	GRCh38/hg38 16p13.11(chr16:14806311-16439385)x3	ABCC1, ABCC6 +54 more	Copy number gain	See cases	GUncertain significance
Select item 153841	GRCh38/hg38 16p13.11(chr16:14806325-16450161)x3	NOMO1, NOMO3 +54 more	Copy number gain	See cases	GUncertain significance
Select item 148975	GRCh38/hg38 16p13.11(chr16:14816259-16431491)x1	ABCC1, ABCC6 +54 more	Copy number loss	See cases	GPathogenic
Select item 2499651	GRCh38/hg38 16p13.11(chr16:14816348-16678513)	ABCC1, ABCC6 +54 more	Copy number gain	Anomalous pulmonary venous return	GUncertain significance
Select item 160930	GRCh38/hg38 16p13.11(chr16:14816348-16431491)x1	ABCC1, ABCC6 +54 more	Copy number loss	See cases	GPathogenic
Select item 160807	GRCh38/hg38 16p13.11(chr16:14816348-16100721)x1	ABCC1, BMERB1 +41 more	Copy number loss	See cases	GPathogenic
Select item 160804	GRCh38/hg38 16p13.11(chr16:14816348-16431491)x3	ABCC1, ABCC6 +54 more	Copy number gain	See cases	GUncertain significance
Select item 154498	GRCh38/hg38 16p13.11(chr16:14816348-16678513)x3	ABCC1, ABCC6 +54 more	Copy number gain	See cases	GUncertain significance
Select item 146212	GRCh38/hg38 16p13.11(chr16:14816348-16580464)x3	ABCC1, ABCC6 +54 more	Copy number gain	See cases	GConflicting classifications of pathogenicity
Select item 57655	GRCh38/hg38 16p13.11(chr16:14816348-16148900)x3	ABCC1, BMERB1 +41 more	Copy number gain	See cases	GUncertain significance
Select item 57537	GRCh38/hg38 16p13.11(chr16:14816348-15055158)x1	LOC100288162, LOC112340377 +11 more	Copy number loss	See cases	GUncertain significance
Select item 57294	GRCh38/hg38 16p13.11-12.3(chr16:14816348-18658403)x1	ABCC1, ABCC6 +96 more	Copy number loss	See cases	GPathogenic
Select item 57168	GRCh38/hg38 16p13.11-12.3(chr16:14816348-18047194)x1	ABCC1, ABCC6 +85 more	Copy number loss	See cases	GPathogenic
Select item 32961	GRCh38/hg38 16p13.11(chr16:14816348-16100721)x3	ABCC1, BMERB1 +41 more	Copy number gain	See cases	GUncertain significance
Select item 32821	GRCh38/hg38 16p13.11(chr16:14816348-16431491)x3	ABCC1, ABCC6 +54 more	Copy number gain	See cases	GUncertain significance
Select item 32353	GRCh38/hg38 16p13.11(chr16:14816348-16100721)x1	ABCC1, BMERB1 +41 more	Copy number loss	See cases	GPathogenic
Select item 32196	GRCh38/hg38 16p13.11(chr16:14816348-16633564)x3	ABCC1, ABCC6 +54 more	Copy number gain	See cases	GUncertain significance
Select item 154784	GRCh38/hg38 16p13.11(chr16:14816356-16431517)x1	ABCC1, ABCC6 +54 more	Copy number loss	See cases	GPathogenic
Select item 154755	GRCh38/hg38 16p13.11(chr16:14816356-16648337)x1	ABCC1, ABCC6 +54 more	Copy number loss	See cases	GPathogenic
Select item 150761	GRCh38/hg38 16p13.11(chr16:14816356-15140605)x1	LOC100288162, LOC100505915 +16 more	Copy number loss	See cases	GLikely benign
Select item 58704	GRCh38/hg38 16p13.11-12.3(chr16:14823949-18055828)x1	ABCC1, ABCC6 +85 more	Copy number loss	See cases	GPathogenic
Select item 57657	GRCh38/hg38 16p13.11(chr16:14823949-16281234)x3	ABCC1, ABCC6 +45 more	Copy number gain	See cases	GUncertain significance
Select item 150622	GRCh38/hg38 16p13.11-12.3(chr16:14832186-16741305)x3	ABCC1, ABCC6 +54 more	Copy number gain	See cases	GUncertain significance
Select item 2358951	NM_014287.4(NOMO1):c.8T>G (p.Val3Gly)	NOMO1 (V3G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2346540	NM_014287.4(NOMO1):c.14A>G (p.Gln5Arg)	NOMO1 (Q5R)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2252316	NM_014287.4(NOMO1):c.178A>G (p.Thr60Ala)	NOMO1 (T60A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2287448	NM_014287.4(NOMO1):c.220A>G (p.Asn74Asp)	NOMO1 (N74D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2646241	NM_014287.4(NOMO1):c.302-3C>T	NOMO1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2279923	NM_014287.4(NOMO1):c.444G>C (p.Gln148His)	NOMO1 (Q148H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2568434	NM_014287.4(NOMO1):c.469G>A (p.Glu157Lys)	NOMO1 (E157K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 57658	GRCh38/hg38 16p13.11(chr16:14850703-16211879)x3	ABCC1, ABCC6 +43 more	Copy number gain	See cases	GUncertain significance
Select item 2469803	NM_014287.4(NOMO1):c.610T>C (p.Ser204Pro)	NOMO1 (S204P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3300319	NM_014287.4(NOMO1):c.616G>A (p.Ala206Thr)	NOMO1 (A206T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2373684	NM_014287.4(NOMO1):c.631C>T (p.Pro211Ser)	NOMO1 (P211S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3300316	NM_014287.4(NOMO1):c.674G>A (p.Ser225Asn)	NOMO1 (S225N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3201162	NM_014287.4(NOMO1):c.812C>T (p.Thr271Met)	NOMO1 (T271M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2341319	NM_014287.4(NOMO1):c.833C>T (p.Ser278Leu)	NOMO1 (S278L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2537459	NM_014287.4(NOMO1):c.898A>T (p.Ile300Phe)	NOMO1 (I300F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2204365	NM_014287.4(NOMO1):c.961G>A (p.Glu321Lys)	NOMO1 (E321K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2290830	NM_014287.4(NOMO1):c.962A>G (p.Glu321Gly)	NOMO1 (E321G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2387093	NM_014287.4(NOMO1):c.967G>A (p.Val323Met)	NOMO1 (V323M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2412219	NM_014287.4(NOMO1):c.991G>A (p.Val331Ile)	NOMO1 (V331I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 710343	NM_014287.4(NOMO1):c.1011C>T (p.Asn337=)	NOMO1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2213919	NM_014287.4(NOMO1):c.1131C>G (p.Ile377Met)	NOMO1 (I377M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3300321	NM_014287.4(NOMO1):c.1136C>T (p.Ala379Val)	NOMO1 (A379V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2341217	NM_014287.4(NOMO1):c.1163C>T (p.Thr388Met)	NOMO1 (T388M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2314835	NM_014287.4(NOMO1):c.1225A>G (p.Ser409Gly)	NOMO1 (S409G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3201142	NM_014287.4(NOMO1):c.1281T>A (p.Asn427Lys)	NOMO1 (N427K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3300326	NM_014287.4(NOMO1):c.1348C>T (p.His450Tyr)	NOMO1 (H450Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2593733	NM_014287.4(NOMO1):c.1390G>C (p.Val464Leu)	NOMO1 (V464L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2344753	NM_014287.4(NOMO1):c.1433C>T (p.Thr478Met)	NOMO1 (T478M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2204316	NM_014287.4(NOMO1):c.1445A>G (p.Gln482Arg)	NOMO1 (Q482R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3201143	NM_014287.4(NOMO1):c.1477A>T (p.Met493Leu)	NOMO1 (M493L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2212029	NM_014287.4(NOMO1):c.1477A>G (p.Met493Val)	NOMO1 (M493V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3300322	NM_014287.4(NOMO1):c.1478T>A (p.Met493Lys)	NOMO1 (M493K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3300328	NM_014287.4(NOMO1):c.1547G>C (p.Gly516Ala)	NOMO1 (G516A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2222067	NM_014287.4(NOMO1):c.1579C>T (p.Arg527Cys)	NOMO1 (R527C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2517757	NM_014287.4(NOMO1):c.1612G>A (p.Gly538Ser)	NOMO1 (G538S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2516796	NM_014287.4(NOMO1):c.1757G>C (p.Arg586Thr)	NOMO1 (R586T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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