MYRIP[gene] - ClinVar

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

Search results

Items: 76

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 153415	GRCh38/hg38 3p26.3-22.1(chr3:53308-41381521)x3	ACAA1, ACVR2B +1111 more	Copy number gain	See cases	GPathogenic
Select item 145586	GRCh38/hg38 3p22.3-22.1(chr3:33728406-40662451)x3	ACAA1, ACVR2B +176 more	Copy number gain	See cases	GPathogenic
Select item 2478591	NM_015460.4(MYRIP):c.69A>T (p.Gln23His)	MYRIP (Q23H)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2531994	NM_015460.4(MYRIP):c.86G>A (p.Arg29His)	MYRIP (R29H)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2322095	NM_015460.4(MYRIP):c.140G>C (p.Gly47Ala)	MYRIP (G47A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2518168	NM_015460.4(MYRIP):c.184C>A (p.His62Asn)	MYRIP (S18R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2372694	NM_015460.4(MYRIP):c.214A>G (p.Thr72Ala)	MYRIP (T72A)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3169783	NM_015460.4(MYRIP):c.235C>T (p.Arg79Cys)	MYRIP (R79C)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2392419	NM_015460.4(MYRIP):c.292C>T (p.His98Tyr)	MYRIP (H98Y)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2459858	NM_015460.4(MYRIP):c.316G>A (p.Val106Ile)	MYRIP (V106I)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2398539	NM_015460.4(MYRIP):c.329C>T (p.Ala110Val)	MYRIP (R67* +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 771852	NM_015460.4(MYRIP):c.330G>A (p.Ala110=)	MYRIP (R67Q)	Single nucleotide variant (synonymous variant +2 more)	not provided	GBenign
Select item 2548550	NM_015460.4(MYRIP):c.368A>G (p.Asn123Ser)	MYRIP (N123S)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2237738	NM_015460.4(MYRIP):c.382C>T (p.Arg128Cys)	MYRIP (R128C)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 3169814	NM_015460.4(MYRIP):c.392G>T (p.Arg131Leu)	MYRIP (R131L)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 3169818	NM_015460.4(MYRIP):c.409G>A (p.Val137Ile)	MYRIP (V137I)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2608677	NM_015460.4(MYRIP):c.422T>G (p.Leu141Arg)	MYRIP (L141R)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2214091	NM_015460.4(MYRIP):c.460G>C (p.Asp154His)	MYRIP (D154H)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 3169829	NM_015460.4(MYRIP):c.551G>A (p.Gly184Glu)	MYRIP (G95E +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3169831	NM_015460.4(MYRIP):c.631G>A (p.Ala211Thr)	MYRIP (A24T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3298173	NM_015460.4(MYRIP):c.664G>T (p.Ala222Ser)	MYRIP (A133S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3169834	NM_015460.4(MYRIP):c.682C>A (p.His228Asn)	MYRIP (H41N +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 786875	NM_015460.4(MYRIP):c.729+4G>A	MYRIP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3169836	NM_015460.4(MYRIP):c.833C>T (p.Ser278Leu)	MYRIP (S278L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2459769	NM_015460.4(MYRIP):c.862G>A (p.Ala288Thr)	MYRIP (A199T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2323305	NM_015460.4(MYRIP):c.920C>G (p.Thr307Ser)	EIF1B-AS1, MYRIP (T218S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3169842	NM_015460.4(MYRIP):c.964C>G (p.Gln322Glu)	EIF1B-AS1, MYRIP (Q233E +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3169843	NM_015460.4(MYRIP):c.969C>A (p.His323Gln)	EIF1B-AS1, MYRIP (H234Q +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 791475	NM_015460.4(MYRIP):c.971C>T (p.Pro324Leu)	MYRIP, EIF1B-AS1 (P137L +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign/Likely benign
Select item 3298170	NM_015460.4(MYRIP):c.1054G>A (p.Asp352Asn)	EIF1B-AS1, MYRIP (D263N +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2349669	NM_015460.4(MYRIP):c.1123G>A (p.Gly375Arg)	EIF1B-AS1, MYRIP (G286R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3169682	NM_015460.4(MYRIP):c.1127C>T (p.Thr376Met)	EIF1B-AS1, MYRIP (T189M +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 779870	NM_015460.4(MYRIP):c.1128G>A (p.Thr376=)	EIF1B-AS1, MYRIP	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 3169687	NM_015460.4(MYRIP):c.1162T>A (p.Ser388Thr)	EIF1B-AS1, MYRIP (S388T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2363524	NM_015460.4(MYRIP):c.1186G>A (p.Asp396Asn)	EIF1B-AS1, MYRIP (D209N +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3298175	NM_015460.4(MYRIP):c.1234C>T (p.Pro412Ser)	EIF1B-AS1, MYRIP (P225S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2267092	NM_015460.4(MYRIP):c.1234C>A (p.Pro412Thr)	EIF1B-AS1, MYRIP (P412T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2491142	NM_015460.4(MYRIP):c.1304C>G (p.Pro435Arg)	EIF1B-AS1, MYRIP (P248R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2458463	NM_015460.4(MYRIP):c.1399G>A (p.Gly467Arg)	EIF1B-AS1, MYRIP (G280R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2514409	NM_015460.4(MYRIP):c.1463T>C (p.Met488Thr)	EIF1B-AS1, MYRIP (M301T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3169709	NM_015460.4(MYRIP):c.1465C>T (p.Arg489Cys)	EIF1B-AS1, MYRIP (R400C +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3298171	NM_015460.4(MYRIP):c.1506G>T (p.Leu502Phe)	EIF1B-AS1, MYRIP (L315F +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3298177	NM_015460.4(MYRIP):c.1507G>A (p.Ala503Thr)	EIF1B-AS1, MYRIP (A316T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2281623	NM_015460.4(MYRIP):c.1520C>A (p.Thr507Asn)	EIF1B-AS1, MYRIP (T507N +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2469911	NM_015460.4(MYRIP):c.1523C>T (p.Ser508Leu)	EIF1B-AS1, MYRIP (S321L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2346700	NM_015460.4(MYRIP):c.1525G>A (p.Asp509Asn)	EIF1B-AS1, MYRIP (D420N +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3298174	NM_015460.4(MYRIP):c.1546G>T (p.Ala516Ser)	EIF1B-AS1, MYRIP (A329S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2333128	NM_015460.4(MYRIP):c.1567C>T (p.Arg523Trp)	EIF1B-AS1, MYRIP (R434W +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3169726	NM_015460.4(MYRIP):c.1592G>A (p.Arg531Gln)	EIF1B-AS1, MYRIP (R344Q +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2233922	NM_015460.4(MYRIP):c.1613G>A (p.Ser538Asn)	EIF1B-AS1, MYRIP (S351N +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2365195	NM_015460.4(MYRIP):c.1635C>A (p.Ser545Arg)	EIF1B-AS1, MYRIP (S456R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2206054	NM_015460.4(MYRIP):c.1670C>T (p.Ser557Leu)	EIF1B-AS1, MYRIP (S370L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2462097	NM_015460.4(MYRIP):c.1697G>A (p.Ser566Asn)	EIF1B-AS1, MYRIP (S477N +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2390913	NM_015460.4(MYRIP):c.1709G>A (p.Arg570Gln)	EIF1B-AS1, MYRIP (R383Q +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3169744	NM_015460.4(MYRIP):c.1804G>A (p.Gly602Arg)	EIF1B-AS1, MYRIP (G513R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2228799	NM_015460.4(MYRIP):c.1871A>G (p.Asp624Gly)	EIF1B-AS1, MYRIP (D535G +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2609190	NM_015460.4(MYRIP):c.1909T>C (p.Phe637Leu)	EIF1B-AS1, MYRIP (F637L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3169754	NM_015460.4(MYRIP):c.2002G>A (p.Glu668Lys)	MYRIP, EIF1B-AS1 (E481K +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3169760	NM_015460.4(MYRIP):c.2048G>A (p.Arg683His)	EIF1B-AS1, MYRIP (R496H +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2208457	NM_015460.4(MYRIP):c.2228C>T (p.Thr743Met)	EIF1B-AS1, MYRIP (T678M +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 735116	NM_015460.4(MYRIP):c.2229G>A (p.Thr743=)	EIF1B-AS1, MYRIP	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign/Likely benign
Select item 3169769	NM_015460.4(MYRIP):c.2282G>A (p.Arg761Gln)	EIF1B-AS1, MYRIP (R672Q +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2333239	NM_015460.4(MYRIP):c.2300T>C (p.Ile767Thr)	EIF1B-AS1, MYRIP (I580T +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2523639	NM_015460.4(MYRIP):c.2329C>T (p.Arg777Cys)	EIF1B-AS1, MYRIP (R590C +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3298169	NM_015460.4(MYRIP):c.2413G>A (p.Ala805Thr)	EIF1B-AS1, MYRIP (A618T +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3298172	NM_015460.4(MYRIP):c.2416C>G (p.Pro806Ala)	EIF1B-AS1, MYRIP (P806A +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3169788	NM_015460.4(MYRIP):c.2446T>A (p.Ser816Thr)	EIF1B-AS1, MYRIP (S727T +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2345557	NM_015460.4(MYRIP):c.2459C>T (p.Thr820Ile)	EIF1B-AS1, MYRIP (T633I +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2300117	NM_015460.4(MYRIP):c.2465A>C (p.Lys822Thr)	EIF1B-AS1, MYRIP (K757T +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2385594	NM_015460.4(MYRIP):c.2488C>T (p.Leu830Phe)	EIF1B-AS1, MYRIP (L741F +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2344000	NM_015460.4(MYRIP):c.2576A>G (p.Tyr859Cys)	EIF1B-AS1, MYRIP (Y672C +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1455527	NC_000003.11:g.(?_16710965)_(41275270_?)del	ACAA1, ACVR2B +93 more	Deletion	not provided	GPathogenic
Select item 562760	GRCh37/hg19 3p24.3-21.31(chr3:16923595-45249923)x2,3	ABHD5, ACAA1 +135 more	Copy number gain	not provided	GPathogenic
Select item 442401	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3	HHLA2, HIGD1A +1054 more	Copy number gain	See cases	GPathogenic
Select item 442400	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)	A4GNT, AADAC +1054 more	Copy number gain	See cases	GPathogenic
Select item 253356	GRCh37/hg19 3p22.2-21.31(chr3:37028313-49929220)x3	ABHD5, ACAA1 +177 more	Copy number gain	See cases	GLikely pathogenic

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: 76