NME5[gene] - ClinVar

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Items: 31

	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 149858	GRCh38/hg38 5q23.3-33.2(chr5:129847794-153353546)x3	LOC129994992, LOC129994993 +1157 more	Copy number gain	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 58361	GRCh38/hg38 5q31.1-31.2(chr5:133401565-138437038)x1	BRD8, C5orf15 +230 more	Copy number loss	See cases	GPathogenic
Select item 144268	GRCh38/hg38 5q31.1-31.3(chr5:135297294-140106003)x3	BRD8, CDC23 +236 more	Copy number gain	See cases	GPathogenic
Select item 145330	GRCh38/hg38 5q31.2-31.3(chr5:137836682-140696361)x3	ECSCR, EGR1 +224 more	Copy number gain	See cases	GPathogenic
Select item 3064704	NM_003551.3(NME5):c.574del (p.Leu192fs)	NME5 (L192fs)	Deletion (frameshift variant)	Ciliary dyskinesia, primary, 48, without situs inversus	GUncertain significance
Select item 1705857	NM_003551.3(NME5):c.572G>A (p.Trp191Ter)	NME5 (W191*)	Single nucleotide variant (nonsense)	Ciliary dyskinesia, primary, 48, without situs inversus	GLikely pathogenic
Select item 3200805	NM_003551.3(NME5):c.571T>C (p.Trp191Arg)	NME5 (W191R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1705858	NM_003551.3(NME5):c.415del (p.Ile139fs)	NME5 (I139fs)	Deletion (frameshift variant)	Ciliary dyskinesia, primary, 48, without situs inversus	GPathogenic
Select item 2620162	NM_003551.3(NME5):c.401C>T (p.Ala134Val)	NME5 (A134V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2348632	NM_003551.3(NME5):c.309A>C (p.Leu103Phe)	NME5 (L103F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2362903	NM_003551.3(NME5):c.260A>G (p.His87Arg)	NME5 (H87R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3200803	NM_003551.3(NME5):c.148A>C (p.Ser50Arg)	NME5 (S50R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2376919	NM_003551.3(NME5):c.145C>T (p.Leu49Phe)	NME5 (L49F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3200802	NM_003551.3(NME5):c.142C>T (p.Arg48Cys)	NME5 (R48C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2347941	NM_003551.3(NME5):c.103C>A (p.Leu35Ile)	NME5 (L35I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3246511	NC_000005.9:g.(?_137206341)_(137523102_?)dup	BRD8, FAM13B +5 more	Duplication	not provided	GUncertain significance
Select item 3062839	GRCh37/hg19 5q31.2(chr5:137364109-137524867)x1	BRD8, CDC23 +4 more	Copy number loss	not specified	GUncertain significance
Select item 2427648	NC_000005.9:g.(?_136957787)_(138861289_?)del	BRD8, CDC23 +29 more	Deletion	STING-associated vasculopathy with onset in infancy	GUncertain significance
Select item 2425421	NC_000005.9:g.(?_136957787)_(140078137_?)dup	ANKHD1, ANKHD1-EIF4EBP3 +53 more	Duplication	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome	GUncertain significance
Select item 1527198	GRCh37/hg19 5q31.1-31.2(chr5:132031902-137623639)	AFF4, BRD8 +53 more	Copy number loss	not specified	GPathogenic
Select item 1047869	GRCh37/hg19 5q31.2(chr5:136409875-137739167)	BRD8, CDC23 +13 more	Copy number loss	Neurodevelopmental delay +1 more	GPathogenic
Select item 1020265	NC_000005.9:g.(?_136633338)_(140998481_?)dup	PCDHA8, PCDHA9 +116 more	Duplication	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome	GUncertain significance
Select item 635930	Single allele	C5orf24, C5orf34 +600 more	Deletion	Neurodevelopmental disorder	GUncertain significance
Select item 457359	NC_000005.9:g.(?_86400000)_(154000000_?)del	AFAP1L1, AFF4 +385 more	Deletion	Familial adenomatous polyposis 1 +1 more	GPathogenic
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: 31