51649[geneid] - ClinVar

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Items: 77

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 148363	GRCh38/hg38 17q23.1-25.1(chr17:36449220-75053130)x3	AARSD1, AATF +2032 more	Copy number gain	See cases	GPathogenic
Select item 57282	GRCh38/hg38 17q21.33-24.2(chr17:36449220-68170214)x3	LOC126862582, LOC126862583 +1753 more	Copy number gain	See cases	GPathogenic
Select item 146083	GRCh38/hg38 17q22(chr17:56683505-58084939)x1	AKAP1, AKAP1-DT +83 more	Copy number loss	See cases	GPathogenic
Select item 59591	GRCh38/hg38 17q22(chr17:56958745-58171125)x1	AKAP1, AKAP1-DT +76 more	Copy number loss	See cases	GPathogenic
Select item 151500	GRCh38/hg38 17q22-23.1(chr17:57418806-59735464)x1	C17orf47, CCDC182 +168 more	Copy number loss	See cases	GPathogenic
Select item 3239385	NM_016070.4(MRPS23):c.549G>A (p.Gln183=)	MRPS23	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3030896	NM_016070.4(MRPS23):c.540T>C (p.Pro180=)	MRPS23	Single nucleotide variant (synonymous variant)	MRPS23-related disorder	GLikely benign
Select item 2170237	NM_016070.4(MRPS23):c.539_540delinsGG (p.Pro180Arg)	MRPS23 (P180R)	Indel (missense variant)	not provided	GUncertain significance
Select item 2354361	NM_016070.4(MRPS23):c.539C>G (p.Pro180Arg)	MRPS23 (P180R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3209083	NM_016070.4(MRPS23):c.499A>G (p.Thr167Ala)	MRPS23 (T167A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2547862	NM_016070.4(MRPS23):c.486G>T (p.Leu162Phe)	MRPS23 (L162F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2721950	NM_016070.4(MRPS23):c.480T>C (p.Thr160=)	MRPS23	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3015744	NM_016070.4(MRPS23):c.453C>T (p.Ser151=)	MRPS23	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2204045	NM_016070.4(MRPS23):c.445C>T (p.Arg149Trp)	MRPS23 (R149W)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3296093	NM_016070.4(MRPS23):c.439G>A (p.Val147Ile)	MRPS23 (V147I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2917984	NM_016070.4(MRPS23):c.438C>T (p.His146=)	MRPS23	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1501180	NM_016070.4(MRPS23):c.438C>G (p.His146Gln)	MRPS23 (H146Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 778718	NM_016070.4(MRPS23):c.426C>T (p.His142=)	MRPS23	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 1967604	NM_016070.4(MRPS23):c.421-8C>A	MRPS23	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2052525	NM_016070.4(MRPS23):c.420+20A>G	MRPS23	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2804871	NM_016070.4(MRPS23):c.420+11_420+14del	MRPS23	Deletion (intron variant)	not provided	GLikely benign
Select item 3209080	NM_016070.4(MRPS23):c.416G>A (p.Arg139Lys)	MRPS23 (R139K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1380770	NM_016070.4(MRPS23):c.412G>A (p.Ala138Thr)	MRPS23 (A138T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1529603	NM_016070.4(MRPS23):c.408C>T (p.Gly136=)	MRPS23	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2172470	NM_016070.4(MRPS23):c.400C>T (p.Arg134Ter)	MRPS23 (R134*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2476946	NM_016070.4(MRPS23):c.368A>G (p.Lys123Arg)	MRPS23 (K123R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3209074	NM_016070.4(MRPS23):c.345G>T (p.Glu115Asp)	MRPS23 (E115D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2963075	NM_016070.4(MRPS23):c.337G>T (p.Asp113Tyr)	MRPS23 (D113Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3035966	NM_016070.4(MRPS23):c.315G>A (p.Glu105=)	MRPS23	Single nucleotide variant (synonymous variant)	MRPS23-related disorder	GLikely benign
Select item 1479427	NM_016070.4(MRPS23):c.292C>T (p.Arg98Trp)	MRPS23 (R98W)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1613404	NM_016070.4(MRPS23):c.285C>T (p.Thr95=)	MRPS23	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3352127	NM_016070.4(MRPS23):c.241G>A (p.Gly81Ser)	MRPS23 (G81S)	Single nucleotide variant (missense variant)	MRPS23-related disorder	GLikely benign
Select item 2555474	NM_016070.4(MRPS23):c.218A>G (p.Lys73Arg)	MRPS23 (K73R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1559406	NM_016070.4(MRPS23):c.215+14C>T	MRPS23	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1568719	NM_016070.4(MRPS23):c.215+12G>C	MRPS23	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2965929	NM_016070.4(MRPS23):c.207G>T (p.Arg69=)	MRPS23	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2469149	NM_016070.4(MRPS23):c.205C>T (p.Arg69Trp)	MRPS23 (R69W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3296095	NM_016070.4(MRPS23):c.184G>A (p.Asp62Asn)	MRPS23 (D62N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1553580	NM_016070.4(MRPS23):c.176C>A (p.Pro59His)	MRPS23 (P59H)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2745247	NM_016070.4(MRPS23):c.166G>A (p.Ala56Thr)	MRPS23 (A56T)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2017907	NM_016070.4(MRPS23):c.156A>G (p.Arg52=)	MRPS23	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2012993	NM_016070.4(MRPS23):c.139C>G (p.Gln47Glu)	MRPS23 (Q47E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2150697	NM_016070.4(MRPS23):c.132C>G (p.Pro44=)	MRPS23	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1356580	NM_016070.4(MRPS23):c.125G>A (p.Arg42Lys)	MRPS23 (R42K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 985200	NM_016070.4(MRPS23):c.119C>T (p.Pro40Leu)	MRPS23 (P40L)	Single nucleotide variant (missense variant)	Combined oxidative phosphorylation deficiency 46 +2 more	GConflicting classifications of pathogenicity
Select item 973976	NM_016070.4(MRPS23):c.119C>G (p.Pro40Arg)	MRPS23 (P40R)	Single nucleotide variant (missense variant)	Combined oxidative phosphorylation deficiency 46	GPathogenic
Select item 3053497	NM_016070.4(MRPS23):c.111C>T (p.Ala37=)	MRPS23	Single nucleotide variant (synonymous variant)	MRPS23-related disorder	GLikely benign
Select item 1632663	NM_016070.4(MRPS23):c.63G>T (p.Arg21=)	MRPS23	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2309551	NM_016070.4(MRPS23):c.61C>G (p.Arg21Gly)	MRPS23 (R21G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1596101	NM_016070.4(MRPS23):c.51G>A (p.Arg17=)	MRPS23	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2790664	NM_016070.4(MRPS23):c.45-19G>A	MRPS23	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2978884	NM_016070.4(MRPS23):c.44+20G>A	MRPS23	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2119718	NM_016070.4(MRPS23):c.44+14G>C	MRPS23	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1348587	NM_016070.4(MRPS23):c.41C>T (p.Ser14Phe)	MRPS23 (S14F)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2169133	NM_016070.4(MRPS23):c.37T>A (p.Phe13Ile)	MRPS23 (F13I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1589915	NM_016070.4(MRPS23):c.36C>T (p.Ile12=)	MRPS23	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3209069	NM_016070.4(MRPS23):c.33C>A (p.Ser11Arg)	MRPS23 (S11R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1521643	NM_016070.4(MRPS23):c.16C>T (p.Leu6=)	MRPS23	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1917337	NM_016070.4(MRPS23):c.6A>G (p.Ala2=)	MRPS23	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1900553	NM_016070.4(MRPS23):c.6A>C (p.Ala2=)	MRPS23	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3243161	NC_000017.10:g.(?_54671585)_(55927371_?)del	AKAP1, C17orf67 +7 more	Deletion	not provided	GPathogenic
Select item 3242218	Single allele	KIF18B, LPO +196 more	Deletion	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
Select item 3242217	GRCh37/hg19 17q12-22(chr17:41196270-41277589)	SLC4A1, DCAKD +422 more	Copy number loss	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
Select item 2429783	NC_000017.10:g.(?_55806534)_(56540597_?)del	CUEDC1, DYNLL2 +14 more	Deletion	Neurodevelopmental delay +1 more	GPathogenic
Select item 2429780	NC_000017.10:g.(?_55442363)_(56309063_?)del	CUEDC1, DYNLL2 +9 more	Deletion	Neurodevelopmental delay +1 more	GPathogenic
Select item 2426264	NC_000017.10:g.(?_55917144)_(55918641_?)dup	MRPS23	Duplication	not provided	GUncertain significance
Select item 2426263	NC_000017.10:g.(?_55926581)_(55927371_?)del	MRPS23	Deletion	not provided	GUncertain significance
Select item 1710927	GRCh37/hg19 17q22(chr17:55043662-56728123)x1	LPO, MKS1 +21 more	Copy number loss	See cases	GPathogenic
Select item 1412084	NC_000017.10:g.(?_54671585)_(59938900_?)dup	AKAP1, APPBP2 +54 more	Duplication	Meckel-Gruber syndrome +1 more	GUncertain significance
Select item 1412017	NC_000017.10:g.(?_55926581)_(55927371_?)dup	MRPS23	Duplication	not provided	GUncertain significance
Select item 1328440	GRCh37/hg19 17q22(chr17:55840956-56090386)x1	CUEDC1, MRPS23 +2 more	Copy number loss	not provided	GUncertain significance
Select item 441816	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3	ALOX12, ALOX12B +1143 more	Copy number gain	See cases	GPathogenic
Select item 441815	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)	SPEM2, TBCD +1143 more	Copy number gain	See cases	GPathogenic
Select item 395646	GRCh37/hg19 17q21.31-25.3(chr17:42580684-81085615)x3	AANAT, AATK +458 more	Copy number gain	See cases	GPathogenic
Select item 394267	GRCh37/hg19 17q22(chr17:52189051-57477162)x3	AKAP1, ANKFN1 +42 more	Copy number gain	See cases	GPathogenic
Select item 394158	GRCh37/hg19 17q21.33-23.2(chr17:49076980-58740945)x3	AKAP1, ANKFN1 +65 more	Copy number gain	See cases	GPathogenic
Select item 253345	GRCh37/hg19 17q22(chr17:55916829-56770618)x1	MKS1, DYNLL2 +19 more	Copy number loss	See cases	GLikely pathogenic

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Items: 77