LARP1[gene] - ClinVar

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Items: 51

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59672	GRCh38/hg38 5q21.3-33.2(chr5:106619588-156124387)x1	ABLIM3, ACSL6 +1672 more	Copy number loss	See cases	GPathogenic
Select item 57483	GRCh38/hg38 5q23.3-33.2(chr5:130860928-155321811)x3	ABLIM3, ACSL6 +1218 more	Copy number gain	See cases	GPathogenic
Select item 58118	GRCh38/hg38 5q32-35.3(chr5:149714592-181272151)x3	ADAM19, ADAMTS2 +1166 more	Copy number gain	See cases	GPathogenic
Select item 149231	GRCh38/hg38 5q33.1-34(chr5:152443869-166104392)x1	ADAM19, ADRA1B +294 more	Copy number loss	See cases	GPathogenic
Select item 58390	GRCh38/hg38 5q33.1-34(chr5:152761187-167248053)x1	ADAM19, ADRA1B +279 more	Copy number loss	See cases	GPathogenic
Select item 3117813	NM_015315.6(LARP1):c.122T>G (p.Leu41Trp)	LARP1 (L41W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2611080	NM_033551.3(LARP1):c.476C>G (p.Pro159Arg)	LARP1 (P159R +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2611081	NM_033551.3(LARP1):c.689A>T (p.Glu230Val)	LARP1 (E230V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3117819	NM_033551.3(LARP1):c.761C>T (p.Pro254Leu)	LARP1 (P254L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3117820	NM_033551.3(LARP1):c.811C>T (p.Arg271Cys)	LARP1 (R271C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2330391	NM_033551.3(LARP1):c.866A>G (p.Lys289Arg)	LARP1 (K289R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 736377	NM_033551.3(LARP1):c.895G>A (p.Val299Met)	LARP1 (V222M +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2393615	NM_033551.3(LARP1):c.901C>A (p.Pro301Thr)	LARP1 (P301T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2655975	NM_033551.3(LARP1):c.921A>G (p.Gln307=)	LARP1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2537622	NM_033551.3(LARP1):c.968C>T (p.Ser323Leu)	LARP1 (S246L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2592926	NM_033551.3(LARP1):c.979A>T (p.Ser327Cys)	LARP1 (S122C +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2589454	NM_033551.3(LARP1):c.1010T>C (p.Phe337Ser)	LARP1 (F132S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2376738	NM_033551.3(LARP1):c.1018C>T (p.Arg340Cys)	LARP1 (R340C +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2398818	NM_033551.3(LARP1):c.1127C>T (p.Thr376Met)	LARP1 (T104M +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2302536	NM_033551.3(LARP1):c.1195G>T (p.Asp399Tyr)	LARP1 (D127Y +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2521540	NM_033551.3(LARP1):c.1462A>G (p.Ile488Val)	LARP1 (I250V +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3117814	NM_033551.3(LARP1):c.1570G>T (p.Ala524Ser)	LARP1 (A252S +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3117815	NM_033551.3(LARP1):c.1571C>T (p.Ala524Val)	LARP1 (A252V +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2605896	NM_033551.3(LARP1):c.1571C>A (p.Ala524Glu)	LARP1 (A447E +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2335115	NM_033551.3(LARP1):c.1898A>G (p.Tyr633Cys)	LARP1 (Y530C +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2607928	NM_033551.3(LARP1):c.1955A>G (p.Tyr652Cys)	LARP1 (Y380C +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2480584	NM_033551.3(LARP1):c.1978G>C (p.Asp660His)	LARP1 (D557H +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2556281	NM_033551.3(LARP1):c.2124C>A (p.Asn708Lys)	LARP1 (N605K +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2512494	NM_033551.3(LARP1):c.2272C>T (p.Pro758Ser)	LARP1 (P553S +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2486941	NM_033551.3(LARP1):c.2641A>C (p.Lys881Gln)	LARP1 (K676Q +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 791447	NM_033551.3(LARP1):c.2847T>C (p.Tyr949=)	LARP1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2324993	NM_033551.3(LARP1):c.2852T>C (p.Leu951Ser)	LARP1 (L713S +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2307009	NM_033551.3(LARP1):c.2911T>C (p.Phe971Leu)	LARP1 (F766L +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2269855	NM_033551.3(LARP1):c.3001A>C (p.Lys1001Gln)	LARP1 (K1001Q +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2481386	NM_033551.3(LARP1):c.3100G>A (p.Gly1034Ser)	LARP1 (G1034S +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2467119	NM_033551.3(LARP1):c.3176C>A (p.Ser1059Tyr)	LARP1 (S821Y +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3117817	NM_033551.3(LARP1):c.3194T>A (p.Met1065Lys)	LARP1 (M1065K +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2232698	NM_033551.3(LARP1):c.3195G>T (p.Met1065Ile)	LARP1 (M988I +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2482197	NM_033551.3(LARP1):c.3206C>A (p.Pro1069His)	LARP1 (P1069H +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3117818	NM_033551.3(LARP1):c.3212C>T (p.Thr1071Ile)	LARP1 (T1071I +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2672282	NM_033551.3(LARP1):c.3278C>T (p.Thr1093Ile)	LARP1 (T1016I +6 more)	Single nucleotide variant (missense variant)	not specified	GBenign
Select item 1808662	GRCh37/hg19 5q33.1-35.2(chr5:150535183-172906793)x3	ADAM19, ADRA1B +98 more	Copy number gain	not provided	GPathogenic
Select item 1703528	GRCh37/hg19 5q32-35.3(chr5:149010383-180719789)	ADAM19, ADAMTS2 +222 more	Copy number gain	Hunter-McAlpine craniosynostosis	GPathogenic
Select item 980747	GRCh37/hg19 5q33.2(chr5:153933226-154184148)x3	LARP1	Copy number gain	not provided	GUncertain significance
Select item 814754	GRCh37/hg19 5q33.2(chr5:154117774-154339494)x1	FAXDC2, CNOT8 +3 more	Copy number loss	not provided	GUncertain significance
Select item 686948	GRCh37/hg19 5q33.2-33.3(chr5:153785664-156189369)x1	CNOT8, FAXDC2 +8 more	Copy number loss	not provided	GUncertain significance
Select item 442431	GRCh37/hg19 5p15.1-q35.2(chr5:17628741-176575720)x1	DHFR, DHX29 +738 more	Copy number loss	See cases	GPathogenic
Select item 441920	GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)	ABLIM3, ACOT12 +870 more	Copy number gain	See cases	GPathogenic
Select item 441919	GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)x3	ABLIM3, ACOT12 +870 more	Copy number gain	See cases	GPathogenic
Select item 425542	GRCh37/hg19 5q15-35.3(chr5:94844077-178830410)x3	ARL10, ARL14EPL +511 more	Copy number gain	not provided	GLikely benign
Select item 394550	GRCh37/hg19 5q21.3-35.3(chr5:106716357-180687338)x3	HRH2, HSD17B4 +520 more	Copy number gain	See cases	GPathogenic

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Items: 51