ClinVar for MedGen (Select 767353) - ClinVar

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Items: 37

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3220922	NM_016648.4(LARP7):c.1025_1030dup (p.Asp343_Thr344insLysAsp)	LARP7, MIR302CHG	Duplication (inframe_insertion)	Microcephalic primordial dwarfism, Alazami type	GUncertain significance
Select item 3220921	NM_016648.4(LARP7):c.1024_1025insGGATAA (p.Glu341_Lys342insArgIle)	LARP7, MIR302CHG	Insertion (inframe_insertion)	Microcephalic primordial dwarfism, Alazami type	GUncertain significance
Select item 3065915	NM_016648.4(LARP7):c.731del (p.Ser244fs)	LARP7, MIR302CHG (S165fs +2 more)	Deletion (frameshift variant)	Microcephalic primordial dwarfism, Alazami type	GLikely pathogenic
Select item 3065096	NM_016648.4(LARP7):c.414_415del (p.His138fs)	LARP7, MIR302CHG (H138fs +1 more)	Microsatellite (non-coding transcript variant +1 more)	Microcephalic primordial dwarfism, Alazami type	GUncertain significance
Select item 2689363	NM_016648.4(LARP7):c.1427C>T (p.Ala476Val)	LARP7 (A397V +4 more)	Single nucleotide variant (missense variant)	Microcephalic primordial dwarfism, Alazami type	GUncertain significance
Select item 2505310	NM_016648.4(LARP7):c.223_229del (p.Val75fs)	LARP7 (V75fs)	Deletion (frameshift variant +1 more)	Microcephalic primordial dwarfism, Alazami type	GLikely pathogenic
Select item 2433410	NM_016648.4(LARP7):c.388-40G>A	LARP7, MIR302CHG	Single nucleotide variant (non-coding transcript variant +1 more)	Microcephalic primordial dwarfism, Alazami type	GUncertain significance
Select item 1801475	NM_016648.4(LARP7):c.225_226del (p.Ser76fs)	LARP7 (S76fs)	Microsatellite (frameshift variant +1 more)	Microcephalic primordial dwarfism, Alazami type	GPathogenic
Select item 1708490	NM_016648.4(LARP7):c.931_950del (p.Lys311fs)	MIR302CHG, LARP7 (K232fs +2 more)	Deletion (frameshift variant)	Microcephalic primordial dwarfism, Alazami type	GPathogenic
Select item 1526263	NM_016648.4(LARP7):c.690_699delinsTCCAAGCCAATAGACAATATCCAAGCC (p.Lys230_Asn233delinsAsnProSerGlnTer)	LARP7, MIR302CHG	Indel (nonsense)	not provided	GPathogenic
Select item 1342838	NM_016648.4(LARP7):c.691_694del (p.Glu231fs)	LARP7, MIR302CHG (E152fs +2 more)	Deletion (frameshift variant)	Microcephalic primordial dwarfism, Alazami type	GLikely pathogenic
Select item 1325791	NM_016648.4(LARP7):c.1045_1051dup (p.Ser351Ter)	LARP7, MIR302CHG (S272* +4 more)	Duplication (nonsense)	Microcephalic primordial dwarfism, Alazami type	GPathogenic
Select item 1324657	NM_016648.4(LARP7):c.422_429del (p.Ile141fs)	LARP7, MIR302CHG (I141fs +1 more)	Deletion (non-coding transcript variant +1 more)	Microcephalic primordial dwarfism, Alazami type	GLikely pathogenic
Select item 1324655	NM_016648.4(LARP7):c.887_888insTCTC (p.Lys296fs)	LARP7, MIR302CHG (K217fs +2 more)	Insertion (non-coding transcript variant +1 more)	Microcephalic primordial dwarfism, Alazami type	GLikely pathogenic
Select item 1323231	NM_016648.4(LARP7):c.119dup (p.Gln41fs)	LARP7 (Q41fs)	Duplication (frameshift variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1323230	NM_016648.4(LARP7):c.297_303+2del	LARP7	Deletion (splice donor variant)	Microcephalic primordial dwarfism, Alazami type	GConflicting classifications of pathogenicity
Select item 1308667	NM_016648.4(LARP7):c.789dup (p.Glu264Ter)	LARP7, MIR302CHG (E185* +2 more)	Duplication (nonsense)	Microcephalic primordial dwarfism, Alazami type	GPathogenic
Select item 1308663	NM_016648.4(LARP7):c.64_65del (p.Glu22fs)	LARP7 (E22fs)	Deletion (frameshift variant +1 more)	Microcephalic primordial dwarfism, Alazami type +1 more	GPathogenic
Select item 1030574	NM_016648.4(LARP7):c.1417-15T>G	LARP7	Single nucleotide variant (intron variant)	Microcephalic primordial dwarfism, Alazami type	GUncertain significance
Select item 804445	NM_016648.4(LARP7):c.1529_1541del (p.Tyr510fs)	LARP7 (Y510fs +4 more)	Deletion (frameshift variant)	Microcephalic primordial dwarfism, Alazami type	GLikely pathogenic
Select item 802084	NM_016648.4(LARP7):c.679C>T (p.Arg227Ter)	LARP7, MIR302CHG (R148* +2 more)	Single nucleotide variant (nonsense)	Microcephalic primordial dwarfism, Alazami type	GPathogenic
Select item 666362	NM_016648.4(LARP7):c.1091_1094del (p.Lys364fs)	LARP7, MIR302CHG (K363fs +4 more)	Deletion (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 666361	NM_016648.4(LARP7):c.203-12_231del	LARP7	Deletion (splice acceptor variant)	Microcephalic primordial dwarfism, Alazami type	GLikely pathogenic
Select item 592141	NM_016648.4(LARP7):c.427del (p.Arg143fs)	LARP7, MIR302CHG (R143fs +1 more)	Deletion (non-coding transcript variant +1 more)	Microcephalic primordial dwarfism, Alazami type	GLikely pathogenic
Select item 559636	NM_001904.4(CTNNB1):c.1420C>T (p.Arg474Ter)	CTNNB1, LOC126806659 (R474* +1 more)	Single nucleotide variant (nonsense)	Microcephalic primordial dwarfism, Alazami type +11 more	GPathogenic
Select item 523643	NM_016648.4(LARP7):c.503_504dup (p.Ala169fs)	LARP7, MIR302CHG (A169fs +1 more)	Duplication (non-coding transcript variant +1 more)	Microcephalic primordial dwarfism, Alazami type	GPathogenic
Select item 522764	NM_016648.4(LARP7):c.552+31A>G	LARP7, MIR302CHG	Single nucleotide variant (intron variant)	Microcephalic primordial dwarfism, Alazami type	GUncertain significance
Select item 504211	NM_016648.4(LARP7):c.834dup (p.Arg279fs)	LARP7, MIR302CHG (R279fs +2 more)	Duplication (frameshift variant)	Microcephalic primordial dwarfism, Alazami type +1 more	GPathogenic
Select item 402189	NM_016648.4(LARP7):c.832A>T (p.Lys278Ter)	LARP7, MIR302CHG (K278* +2 more)	Single nucleotide variant (nonsense)	Abnormal brain morphology +1 more	GLikely pathogenic
Select item 377284	NM_016648.4(LARP7):c.552+1G>T	LARP7, MIR302CHG	Single nucleotide variant (non-coding transcript variant +1 more)	Microcephalic primordial dwarfism, Alazami type +1 more	GConflicting classifications of pathogenicity
Select item 374900	NM_016648.3(LARP7):c.651_655del	LARP7, MIR302CHG	Microsatellite	not provided	GPathogenic
Select item 374899	NM_016648.4(LARP7):c.213_214dup (p.Ser72fs)	LARP7 (S72fs)	Microsatellite (frameshift variant +1 more)	Microcephalic primordial dwarfism, Alazami type	GPathogenic
Select item 218568	NM_016648.4(LARP7):c.320C>T (p.Thr107Ile)	LARP7 (T107I +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 211371	NM_016648.4(LARP7):c.802_1142+267del	MIR367, LARP7 +2 more	Deletion (splice acceptor variant +1 more)	Microcephalic primordial dwarfism, Alazami type	GPathogenic
Select item 129479	NM_016648.4(LARP7):c.651G>C (p.Glu217Asp)	LARP7, MIR302CHG (E217D +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 41475	NM_016648.4(LARP7):c.828_829insN (p.Lys277fs)	LARP7, MIR302CHG (K198fs +1 more)	Insertion (frameshift variant)	Microcephalic primordial dwarfism, Alazami type	GPathogenic
Select item 39615	NM_016648.4(LARP7):c.1024_1030dup (p.Thr344fs)	LARP7, MIR302CHG (T344fs +4 more)	Duplication (frameshift variant)	Microcephalic primordial dwarfism, Alazami type	GPathogenic

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Items: 37