LARP4[gene] - ClinVar

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Items: 43

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	ACAD10, ACADS +4836 more	Copy number gain	See cases	GPathogenic
Select item 153751	GRCh38/hg38 12q13.12-13.13(chr12:50122359-53248460)x1	LOC130007898, LOC130007899 +206 more	Copy number loss	See cases	GPathogenic
Select item 2467407	NM_052879.5(LARP4):c.11T>A (p.Phe4Tyr)	LARP4 (F4Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3117842	NM_052879.5(LARP4):c.12C>A (p.Phe4Leu)	LARP4 (F4L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3117849	NM_052879.5(LARP4):c.242A>G (p.Asn81Ser)	LARP4 (N89S +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2242918	NM_052879.5(LARP4):c.254T>C (p.Ile85Thr)	LARP4 (I15T +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3117850	NM_052879.5(LARP4):c.317T>G (p.Val106Gly)	LARP4 (V105G +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3290132	NM_052879.5(LARP4):c.344C>T (p.Ser115Phe)	LARP4 (S114F +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3290135	NM_052879.5(LARP4):c.408G>C (p.Leu136Phe)	LARP4 (L141F +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2594845	NM_052879.5(LARP4):c.544A>G (p.Met182Val)	LARP4 (M181V +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2456114	NM_052879.5(LARP4):c.544A>T (p.Met182Leu)	LARP4 (M111L +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2536693	NM_052879.5(LARP4):c.575T>C (p.Val192Ala)	LARP4 (V122A +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2283180	NM_052879.5(LARP4):c.696T>G (p.Phe232Leu)	LARP4 (F162L +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2309141	NM_052879.5(LARP4):c.953C>T (p.Ser318Leu)	LARP4 (S300L +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3290131	NM_052879.5(LARP4):c.959A>G (p.Tyr320Cys)	LARP4 (Y302C +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2257952	NM_052879.5(LARP4):c.967G>T (p.Val323Leu)	LARP4 (V322L +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3117851	NM_052879.5(LARP4):c.994A>G (p.Thr332Ala)	LARP4 (T332A +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2221156	NM_052879.5(LARP4):c.997C>T (p.Pro333Ser)	LARP4 (P333S +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3117840	NM_052879.5(LARP4):c.1010C>T (p.Thr337Ile)	LARP4 (T319I +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2477453	NM_052879.5(LARP4):c.1012C>G (p.Pro338Ala)	LARP4 (P268A +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2536885	NM_052879.5(LARP4):c.1061C>T (p.Pro354Leu)	LARP4 (P283L +11 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2255243	NM_052879.5(LARP4):c.1096A>G (p.Met366Val)	LARP4 (M295V +11 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2518669	NM_052879.5(LARP4):c.1110C>A (p.Phe370Leu)	LARP4 (F305L +11 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2532845	NM_052879.5(LARP4):c.1171G>C (p.Gly391Arg)	LARP4 (G319R +11 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2532846	NM_052879.5(LARP4):c.1172G>A (p.Gly391Asp)	LARP4 (G249D +11 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3117841	NM_052879.5(LARP4):c.1234C>T (p.Arg412Trp)	LARP4 (R341W +11 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2229450	NM_052879.5(LARP4):c.1313A>G (p.Asn438Ser)	LARP4 (N296S +11 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3290133	NM_052879.5(LARP4):c.1350A>C (p.Arg450Ser)	LARP4 (R379S +11 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3117843	NM_052879.5(LARP4):c.1415C>T (p.Ala472Val)	LARP4 (A330V +11 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2309797	NM_052879.5(LARP4):c.1604C>T (p.Thr535Ile)	LARP4 (T394I +11 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3290130	NM_052879.5(LARP4):c.1733C>A (p.Thr578Lys)	LARP4 (T568K +13 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3117844	NM_052879.5(LARP4):c.1798A>G (p.Asn600Asp)	LARP4 (N528D +11 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3117845	NM_052879.5(LARP4):c.1800T>A (p.Asn600Lys)	LARP4 (N459K +11 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3117846	NM_052879.5(LARP4):c.1819A>C (p.Thr607Pro)	LARP4 (T535P +11 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2275471	NM_052879.5(LARP4):c.1828G>C (p.Ala610Pro)	LARP4 (A468P +11 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3117847	NM_052879.5(LARP4):c.1918G>A (p.Glu640Lys)	LARP4 (E499K +12 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3117848	NM_052879.5(LARP4):c.1989A>C (p.Lys663Asn)	LARP4 (K591N +12 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3290134	NM_052879.5(LARP4):c.2045A>G (p.Asn682Ser)	LARP4 (N612S +12 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 979965	GRCh37/hg19 12q13.12(chr12:50825076-51087674)x3	DIP2B, LARP4	Copy number gain	not provided	GUncertain significance
Select item 524190	NC_000012.11:g.26370251_54361538inv	BICD1, HDAC7 +212 more	Inversion	not specified	GUncertain significance
Select item 441984	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)	SLC15A5, SLC16A7 +1006 more	Copy number gain	See cases	GPathogenic
Select item 441983	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3	A2M, A2ML1 +1006 more	Copy number gain	See cases	GPathogenic
Select item 268075	GRCh37/hg19 12p13.33-q24.33(chr12:1-133851895)x3	GALNT8, H2AJ +1007 more	Copy number gain	See cases	GPathogenic

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Items: 43