51218[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155306	GRCh38/hg38 14q11.2-32.33(chr14:20043514-106877229)x3	LOC125048431, LOC125048432 +3280 more	Copy number gain	See cases	GPathogenic
Select item 146230	GRCh38/hg38 14q11.2-32.33(chr14:20151149-106855263)x3	FSCB, FUT8 +3275 more	Copy number gain	See cases	GPathogenic
Select item 144518	GRCh38/hg38 14q24.3-32.33(chr14:73655772-106879298)x3	ABCD4, ACYP1 +1421 more	Copy number gain	See cases	GPathogenic
Select item 149176	GRCh38/hg38 14q24.3-32.33(chr14:77222795-106879298)x3	ADCK1, ADSS1 +1202 more	Copy number gain	See cases	GPathogenic
Select item 58526	GRCh38/hg38 14q31.3-32.33(chr14:86094030-106832642)x3	LOC130056672, LOC130056673 +1071 more	Copy number gain	See cases	GPathogenic
Select item 58527	GRCh38/hg38 14q32.12-32.33(chr14:91455861-106832642)x3	ADSS1, AHNAK2 +880 more	Copy number gain	See cases	GPathogenic
Select item 146638	GRCh38/hg38 14q32.12-32.33(chr14:92540983-104863658)x3	ADSS1, AK7 +662 more	Copy number gain	See cases	GPathogenic
Select item 146793	GRCh38/hg38 14q32.13-32.33(chr14:95524407-106879501)x1	ADSS1, AHNAK2 +754 more	Copy number loss	See cases	GPathogenic
Select item 673746	NM_016417.2(GLRX5):c.-277T>A	GLRX5, SNHG10	Single nucleotide variant (non-coding transcript variant)	not provided	GLikely benign
Select item 1250550	NR_001459.2(SNHG10):n.39C>T	GLRX5, SNHG10	Single nucleotide variant (non-coding transcript variant)	not provided	GBenign
Select item 1175454	NC_000014.9:g.95534887A>C	GLRX5	Single nucleotide variant	not provided	GLikely benign
Select item 379973	NM_016417.2(GLRX5):c.-44A>C	GLRX5	Single nucleotide variant	not specified	GBenign
Select item 381201	NM_016417.3(GLRX5):c.-17C>A	GLRX5	Single nucleotide variant (5 prime UTR variant)	not specified	GBenign
Select item 389476	NM_016417.3(GLRX5):c.-16C>T	GLRX5	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 390407	NM_016417.3(GLRX5):c.-9C>T	GLRX5	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 2662649	NM_016417.3(GLRX5):c.-6G>A	GLRX5	Single nucleotide variant (5 prime UTR variant)	GLRX5-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 2909843	NM_016417.3(GLRX5):c.9G>T (p.Gly3=)	GLRX5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1600774	NM_016417.3(GLRX5):c.14T>C (p.Leu5Pro)	GLRX5 (L5P)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1564544	NM_016417.3(GLRX5):c.15C>T (p.Leu5=)	GLRX5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2015086	NM_016417.3(GLRX5):c.16_17delinsCT (p.Gly6Leu)	GLRX5 (G6L)	Indel (missense variant)	not provided	GUncertain significance
Select item 1473408	NM_016417.3(GLRX5):c.20G>A (p.Arg7Gln)	GLRX5 (R7Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3100342	NM_016417.3(GLRX5):c.23C>G (p.Ala8Gly)	GLRX5 (A8G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1925333	NM_016417.3(GLRX5):c.25G>A (p.Ala9Thr)	GLRX5 (A9T)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1360535	NM_016417.3(GLRX5):c.32C>T (p.Ala11Val)	GLRX5 (A11V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2194437	NM_016417.3(GLRX5):c.41G>T (p.Arg14Leu)	GLRX5 (R14L)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1926798	NM_016417.3(GLRX5):c.59G>A (p.Gly20Asp)	GLRX5 (G20D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2011483	NM_016417.3(GLRX5):c.60C>T (p.Gly20=)	GLRX5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2082795	NM_016417.3(GLRX5):c.63C>T (p.Gly21=)	GLRX5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1936597	NM_016417.3(GLRX5):c.66T>C (p.Gly22=)	GLRX5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2555736	NM_016417.3(GLRX5):c.68G>A (p.Gly23Asp)	GLRX5 (G23D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1938938	NM_016417.3(GLRX5):c.72T>C (p.Leu24=)	GLRX5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2089882	NM_016417.3(GLRX5):c.79C>A (p.Pro27Thr)	GLRX5 (P27T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 224513	NM_016417.3(GLRX5):c.86_93dup (p.Ala32fs)	GLRX5 (A32fs)	Duplication (frameshift variant)	Spasticity-ataxia-gait anomalies syndrome	GPathogenic
Select item 392388	NM_016417.3(GLRX5):c.81G>C (p.Pro27=)	GLRX5	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 2101179	NM_016417.3(GLRX5):c.82G>C (p.Gly28Arg)	GLRX5 (G28R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2976754	NM_016417.3(GLRX5):c.84C>T (p.Gly28=)	GLRX5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1618764	NM_016417.3(GLRX5):c.84C>G (p.Gly28=)	GLRX5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2160844	NM_016417.3(GLRX5):c.88C>T (p.Arg30Trp)	GLRX5 (R30W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2644498	NM_016417.3(GLRX5):c.96G>A (p.Ala32=)	GLRX5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1969783	NM_016417.3(GLRX5):c.101C>T (p.Ser34Leu)	GLRX5 (S34L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2891835	NM_016417.3(GLRX5):c.108G>T (p.Ala36=)	GLRX5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1386562	NM_016417.3(GLRX5):c.109GGC[5] (p.Gly40dup)	GLRX5	Microsatellite (inframe_insertion)	not provided	GUncertain significance
Select item 1805825	NM_016417.3(GLRX5):c.115G>A (p.Gly39Ser)	GLRX5 (G39S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 156435	NM_016417.3(GLRX5):c.129G>C (p.Glu43Asp)	GLRX5 (E43D)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 2017235	NM_016417.3(GLRX5):c.141G>T (p.Ala47=)	GLRX5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2033584	NM_016417.3(GLRX5):c.142C>T (p.Leu48=)	GLRX5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2606420	NM_016417.3(GLRX5):c.145G>A (p.Val49Met)	GLRX5 (V49M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 224512	NM_016417.3(GLRX5):c.148AAG[1] (p.Lys51del)	GLRX5 (K51del)	Microsatellite (inframe_deletion)	Spasticity-ataxia-gait anomalies syndrome	GPathogenic
Select item 1038865	NM_016417.3(GLRX5):c.154G>A (p.Asp52Asn)	GLRX5 (D52N)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2117576	NM_016417.3(GLRX5):c.178G>A (p.Gly60Arg)	GLRX5 (G60R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3100341	NM_016417.3(GLRX5):c.185C>G (p.Pro62Arg)	GLRX5 (P62R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 715916	NM_016417.3(GLRX5):c.185C>T (p.Pro62Leu)	GLRX5 (P62L)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2901369	NM_016417.3(GLRX5):c.187G>A (p.Glu63Lys)	GLRX5 (E63K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2955987	NM_016417.3(GLRX5):c.195C>T (p.Pro65=)	GLRX5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1252035	NM_016417.3(GLRX5):c.197A>C (p.Gln66Pro)	GLRX5 (Q66P)	Single nucleotide variant (missense variant)	Spasticity-ataxia-gait anomalies syndrome	GPathogenic
Select item 382968	NM_016417.3(GLRX5):c.198G>A (p.Gln66=)	GLRX5	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 915891	NM_016417.3(GLRX5):c.200G>A (p.Cys67Tyr)	GLRX5 (C67Y)	Single nucleotide variant (missense variant)	Sideroblastic anemia 3	GPathogenic
Select item 2258966	NM_016417.3(GLRX5):c.202G>A (p.Gly68Ser)	GLRX5 (G68S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 382277	NM_016417.3(GLRX5):c.204C>T (p.Gly68=)	GLRX5	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign/Likely benign
Select item 1970061	NM_016417.3(GLRX5):c.207C>T (p.Phe69=)	GLRX5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2997646	NM_016417.3(GLRX5):c.216C>G (p.Ala72=)	GLRX5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1667088	NM_016417.3(GLRX5):c.216C>T (p.Ala72=)	GLRX5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2906372	NM_016417.3(GLRX5):c.219G>A (p.Val73=)	GLRX5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2604452	NM_016417.3(GLRX5):c.223C>G (p.Gln75Glu)	GLRX5 (Q75E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2715157	NM_016417.3(GLRX5):c.228C>T (p.Ile76=)	GLRX5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 382969	NM_016417.3(GLRX5):c.240C>T (p.His80=)	GLRX5	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign
Select item 2513149	NM_016417.3(GLRX5):c.242G>A (p.Gly81Asp)	GLRX5 (G81D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2313079	NM_016417.3(GLRX5):c.251A>G (p.Asp84Gly)	GLRX5 (D84G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2419024	NM_016417.3(GLRX5):c.259G>T (p.Ala87Ser)	GLRX5 (A87S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1606	NM_016417.3(GLRX5):c.294A>G (p.Gln98=)	GLRX5	Single nucleotide variant (synonymous variant)	Sideroblastic anemia 3	GPathogenic
Select item 1638497	NM_016417.3(GLRX5):c.295+13T>G	GLRX5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1659413	NM_016417.3(GLRX5):c.295+17G>A	GLRX5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1990332	NM_016417.3(GLRX5):c.295+18G>A	GLRX5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 672600	NM_016417.3(GLRX5):c.295+230C>T	GLRX5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 684015	NM_016417.3(GLRX5):c.295+311A>G	GLRX5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1252671	NM_016417.3(GLRX5):c.296-271_296-270dup	GLRX5	Duplication (intron variant)	not provided	GBenign
Select item 1227874	NM_016417.3(GLRX5):c.296-270dup	GLRX5	Duplication (intron variant)	not provided	GBenign
Select item 1186508	NM_016417.3(GLRX5):c.296-272_296-270dup	GLRX5	Duplication (intron variant)	not provided	GLikely benign
Select item 1326504	NM_016417.3(GLRX5):c.296-81A>G	GLRX5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 756197	NM_016417.3(GLRX5):c.296-5C>T	GLRX5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 224510	NM_016417.3(GLRX5):c.301A>C (p.Lys101Gln)	GLRX5 (K101Q)	Single nucleotide variant (missense variant)	Sideroblastic anemia 3	GPathogenic
Select item 681589	NM_016417.3(GLRX5):c.306C>T (p.Asp102=)	GLRX5	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 1029602	NM_016417.3(GLRX5):c.314A>G (p.Asn105Ser)	GLRX5 (N105S)	Single nucleotide variant (missense variant)	Sideroblastic anemia 3 +1 more	GUncertain significance
Select item 1970897	NM_016417.3(GLRX5):c.315C>T (p.Asn105=)	GLRX5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1029603	NM_016417.3(GLRX5):c.322A>G (p.Thr108Ala)	GLRX5 (T108A)	Single nucleotide variant (missense variant)	Sideroblastic anemia 3	GUncertain significance
Select item 1932061	NM_016417.3(GLRX5):c.329C>T (p.Pro110Leu)	GLRX5 (P110L)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 795096	NM_016417.3(GLRX5):c.330G>A (p.Pro110=)	GLRX5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1509937	NM_016417.3(GLRX5):c.340C>T (p.Leu114Phe)	GLRX5 (L114F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2175274	NM_016417.3(GLRX5):c.344A>G (p.Asn115Ser)	GLRX5 (N115S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2085075	NM_016417.3(GLRX5):c.348C>T (p.Gly116=)	GLRX5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2052785	NM_016417.3(GLRX5):c.381G>C (p.Gln127His)	GLRX5 (Q127H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3100343	NM_016417.3(GLRX5):c.382A>G (p.Met128Val)	GLRX5 (M128V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 915892	NM_016417.3(GLRX5):c.383T>A (p.Met128Lys)	GLRX5 (M128K)	Single nucleotide variant (missense variant)	Sideroblastic anemia 3	GPathogenic
Select item 1383534	NM_016417.3(GLRX5):c.395G>A (p.Gly132Glu)	GLRX5 (G132E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 739676	NM_016417.3(GLRX5):c.405G>C (p.Val135=)	GLRX5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2432168	NM_016417.3(GLRX5):c.425G>A (p.Gly142Glu)	GLRX5 (G142E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2970692	NM_016417.3(GLRX5):c.429C>A (p.Ile143=)	GLRX5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 380169	NM_016417.3(GLRX5):c.435C>T (p.Ser145=)	GLRX5	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 379974	NM_016417.3(GLRX5):c.436G>A (p.Ala146Thr)	GLRX5 (A146T)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign
Select item 224511	NM_016417.3(GLRX5):c.443T>C (p.Leu148Ser)	GLRX5 (L148S)	Single nucleotide variant (missense variant)	Sideroblastic anemia 3	GPathogenic

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