GNL1[gene] - ClinVar

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Items: 36

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155430	GRCh38/hg38 6p25.3-12.3(chr6:156974-46789291)x3	ILRUN-AS1, IP6K3 +2582 more	Copy number gain	See cases	GPathogenic
Select item 150044	GRCh38/hg38 6p25.2-21.33(chr6:3224310-30657190)x3	ABCF1, ABT1 +1340 more	Copy number gain	See cases	GPathogenic
Select item 2548910	NM_005275.5(GNL1):c.1818G>T (p.Glu606Asp)	GNL1 (E606D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3100627	NM_005275.5(GNL1):c.1772C>G (p.Ser591Cys)	GNL1 (S591C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2210138	NM_005275.5(GNL1):c.1654G>A (p.Glu552Lys)	GNL1 (E552K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2487013	NM_005275.5(GNL1):c.1624T>G (p.Leu542Val)	GNL1 (L542V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2538737	NM_005275.5(GNL1):c.1561C>G (p.Pro521Ala)	GNL1 (P521A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2407495	NM_005275.5(GNL1):c.1537C>T (p.Arg513Cys)	GNL1 (R513C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2389434	NM_005275.5(GNL1):c.1520G>A (p.Arg507Gln)	GNL1 (R507Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3281787	NM_005275.5(GNL1):c.1432A>G (p.Ile478Val)	GNL1 (I478V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2612801	NM_005275.5(GNL1):c.1413C>A (p.His471Gln)	GNL1 (H471Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3100626	NM_005275.5(GNL1):c.1357G>A (p.Val453Met)	GNL1 (V453M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2474149	NM_005275.5(GNL1):c.1309A>C (p.Ile437Leu)	GNL1 (I437L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2532194	NM_005275.5(GNL1):c.1237C>G (p.Pro413Ala)	GNL1 (P413A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2550864	NM_005275.5(GNL1):c.1135G>A (p.Gly379Arg)	GNL1 (G379R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3281791	NM_005275.5(GNL1):c.1064G>T (p.Arg355Leu)	GNL1 (R355L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3281789	NM_005275.5(GNL1):c.1064G>A (p.Arg355His)	GNL1 (R355H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2408786	NM_005275.5(GNL1):c.938G>A (p.Arg313Gln)	GNL1 (R313Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2234591	NM_005275.5(GNL1):c.857G>C (p.Gly286Ala)	GNL1 (G286A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2392559	NM_005275.5(GNL1):c.847C>T (p.Arg283Trp)	GNL1 (R283W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3281790	NM_005275.5(GNL1):c.842G>T (p.Trp281Leu)	GNL1 (W281L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3281788	NM_005275.5(GNL1):c.830G>T (p.Arg277Leu)	GNL1 (R277L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3281786	NM_005275.5(GNL1):c.754G>A (p.Val252Ile)	GNL1 (V252I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2589649	NM_005275.5(GNL1):c.728A>G (p.His243Arg)	GNL1 (H243R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3100629	NM_005275.5(GNL1):c.466C>T (p.Leu156Phe)	GNL1 (L156F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2404560	NM_005275.5(GNL1):c.448C>T (p.Arg150Trp)	GNL1 (R150W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2207652	NM_005275.5(GNL1):c.367C>A (p.Pro123Thr)	GNL1 (P123T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2456691	NM_005275.5(GNL1):c.284G>A (p.Arg95Lys)	GNL1 (R95K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2213876	NM_005275.5(GNL1):c.221G>C (p.Arg74Pro)	GNL1 (R74P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3100628	NM_005275.5(GNL1):c.217C>G (p.Pro73Ala)	GNL1 (P73A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3100625	NM_005275.5(GNL1):c.110G>A (p.Arg37His)	GNL1 (R37H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2474661	NM_005275.5(GNL1):c.61G>C (p.Glu21Gln)	GNL1 (E21Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 974733	NC_000006.11:g.28005012_31683185del	ABCF1, ABHD16A +106 more	Deletion	Megacolon	GLikely pathogenic
Select item 625706	GRCh37/hg19 6p22.1-q14.1(chr6:29455465-81447367)	ERVH-3, ETV7 +427 more	Copy number gain	not provided	GPathogenic
Select item 443497	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)	AARS2, ABCC10 +1028 more	Copy number gain	See cases	GPathogenic
Select item 443496	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3	RING1, RIOK1 +1028 more	Copy number gain	See cases	GPathogenic

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Items: 36