SMG5[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155448	GRCh38/hg38 1q21.2-25.2(chr1:149854269-180267197)x3	LOC129931453, LOC129931454 +1585 more	Copy number gain	See cases	GPathogenic
Select item 151159	GRCh38/hg38 1q21.3-23.1(chr1:154566501-157624084)x3	ADAM15, ADAM15-EFNA4 +297 more	Copy number gain	See cases	GPathogenic
Select item 149955	GRCh38/hg38 1q22(chr1:155834419-156434205)x3	ARHGEF2, ARHGEF2-AS2 +90 more	Copy number gain	See cases	GUncertain significance
Select item 2472856	NM_015327.3(SMG5):c.2974C>G (p.Leu992Val)	SMG5 (L946V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2316897	NM_015327.3(SMG5):c.2957G>T (p.Gly986Val)	SMG5 (G933V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2322188	NM_015327.3(SMG5):c.2948T>C (p.Val983Ala)	SMG5 (V983A +3 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2539290	NM_015327.3(SMG5):c.2897C>T (p.Pro966Leu)	SMG5 (P900L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2538125	NM_015327.3(SMG5):c.2869C>G (p.Leu957Val)	SMG5 (L911V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2612764	NM_015327.3(SMG5):c.2861A>C (p.Gln954Pro)	SMG5 (Q888P +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3166490	NM_015327.3(SMG5):c.2833C>T (p.Leu945Phe)	SMG5 (L879F +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2322718	NM_015327.3(SMG5):c.2798A>C (p.His933Pro)	SMG5 (H867P +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3166489	NM_015327.3(SMG5):c.2786G>A (p.Ser929Asn)	SMG5 (S876N +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3166488	NM_015327.3(SMG5):c.2768A>G (p.Gln923Arg)	SMG5 (Q870R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2476155	NM_015327.3(SMG5):c.2666T>C (p.Ile889Thr)	SMG5 (I823T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2253192	NM_015327.3(SMG5):c.2528G>A (p.Ser843Asn)	SMG5 (S843N +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 149564	GRCh38/hg38 1q22-23.1(chr1:156256495-156681863)x1	BCAN, BCAN-AS1 +47 more	Copy number loss	See cases	GLikely pathogenic
Select item 3320925	NM_015327.3(SMG5):c.2368G>A (p.Val790Ile)	SMG5 (V724I +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3166487	NM_015327.3(SMG5):c.2360A>G (p.Asn787Ser)	SMG5 (N721S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2329658	NM_015327.3(SMG5):c.2333G>A (p.Arg778His)	SMG5 (R732H +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2522820	NM_015327.3(SMG5):c.2308C>T (p.Arg770Cys)	SMG5 (R704C +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3166486	NM_015327.3(SMG5):c.2275T>G (p.Leu759Val)	SMG5 (L713V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3320927	NM_015327.3(SMG5):c.2173A>G (p.Ser725Gly)	SMG5 (S679G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3166485	NM_015327.3(SMG5):c.2008G>A (p.Asp670Asn)	SMG5 (D670N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3166484	NM_015327.3(SMG5):c.1997G>A (p.Arg666Gln)	SMG5 (R620Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2408734	NM_015327.3(SMG5):c.1996C>T (p.Arg666Trp)	SMG5 (R620W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2601097	NM_015327.3(SMG5):c.1901G>A (p.Arg634His)	SMG5 (R568H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2281065	NM_015327.3(SMG5):c.1886G>T (p.Ser629Ile)	SMG5 (S583I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2325885	NM_015327.3(SMG5):c.1844C>T (p.Pro615Leu)	SMG5 (P615L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2477389	NM_015327.3(SMG5):c.1834G>A (p.Val612Ile)	SMG5 (V546I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2209870	NM_015327.3(SMG5):c.1802C>T (p.Ser601Leu)	SMG5 (S601L +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3166482	NM_015327.3(SMG5):c.1792C>T (p.Pro598Ser)	SMG5 (P552S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3320923	NM_015327.3(SMG5):c.1757C>T (p.Thr586Ile)	SMG5 (T540I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2596576	NM_015327.3(SMG5):c.1720A>T (p.Met574Leu)	SMG5 (M528L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2559561	NM_015327.3(SMG5):c.1697A>G (p.Asn566Ser)	SMG5 (N500S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2385582	NM_015327.3(SMG5):c.1654C>T (p.Leu552Phe)	SMG5 (L486F +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 774158	NM_015327.3(SMG5):c.1627C>T (p.Arg543Trp)	SMG5 (R477W +2 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3166481	NM_015327.3(SMG5):c.1621C>T (p.Pro541Ser)	SMG5 (P475S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2393086	NM_015327.3(SMG5):c.1591G>A (p.Glu531Lys)	SMG5 (E465K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2209682	NM_015327.3(SMG5):c.1570G>A (p.Asp524Asn)	SMG5 (D458N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3320922	NM_015327.3(SMG5):c.1545A>C (p.Glu515Asp)	SMG5 (E469D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2314578	NM_015327.3(SMG5):c.1477T>C (p.Ser493Pro)	SMG5 (S447P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2609566	NM_015327.3(SMG5):c.1384C>T (p.Arg462Cys)	SMG5 (R396C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2603534	NM_015327.3(SMG5):c.1378C>T (p.Arg460Cys)	SMG5 (R460C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3166478	NM_015327.3(SMG5):c.1316C>T (p.Pro439Leu)	SMG5 (P439L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3166477	NM_015327.3(SMG5):c.1256A>G (p.Asp419Gly)	SMG5 (D373G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2331477	NM_015327.3(SMG5):c.1247A>G (p.Asp416Gly)	SMG5 (D350G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2250971	NM_015327.3(SMG5):c.1222A>G (p.Asn408Asp)	SMG5 (N342D +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3166475	NM_015327.3(SMG5):c.1216G>A (p.Gly406Ser)	SMG5 (G406S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2246776	NM_015327.3(SMG5):c.1142T>C (p.Ile381Thr)	SMG5 (I381T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2293397	NM_015327.3(SMG5):c.1114G>A (p.Ala372Thr)	SMG5 (A372T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3320926	NM_015327.3(SMG5):c.1087C>T (p.Leu363Phe)	SMG5 (L363F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3166474	NM_015327.3(SMG5):c.1085G>A (p.Cys362Tyr)	SMG5 (C362Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2362482	NM_015327.3(SMG5):c.1078A>G (p.Ile360Val)	SMG5 (I294V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3166473	NM_015327.3(SMG5):c.1072A>G (p.Met358Val)	SMG5 (M358V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2232471	NM_015327.3(SMG5):c.1070A>G (p.Gln357Arg)	SMG5 (Q357R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3166472	NM_015327.3(SMG5):c.1007C>A (p.Ala336Asp)	SMG5 (A336D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3166471	NM_015327.3(SMG5):c.1001G>C (p.Ser334Thr)	SMG5 (S334T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2617519	NM_015327.3(SMG5):c.986C>T (p.Ser329Phe)	SMG5 (S263F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2305003	NM_015327.3(SMG5):c.932C>T (p.Ser311Leu)	SMG5 (S311L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2469519	NM_015327.3(SMG5):c.913G>A (p.Val305Met)	SMG5 (V305M +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3320931	NM_015327.3(SMG5):c.876G>A (p.Met292Ile)	SMG5 (M292I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3320929	NM_015327.3(SMG5):c.815G>A (p.Arg272Gln)	SMG5 (R272Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3320924	NM_015327.3(SMG5):c.719A>G (p.Gln240Arg)	SMG5 (Q174R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 746668	NM_015327.3(SMG5):c.714-5T>C	SMG5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3320928	NM_015327.3(SMG5):c.396C>A (p.His132Gln)	SMG5 (H66Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2393413	NM_015327.3(SMG5):c.311G>A (p.Arg104Gln)	SMG5 (R38Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2406925	NM_015327.3(SMG5):c.256G>A (p.Val86Ile)	SMG5 (V20I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3166483	NM_015327.3(SMG5):c.190G>A (p.Val64Ile)	SMG5 (V64I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3166479	NM_015327.3(SMG5):c.148C>T (p.Pro50Ser)	SMG5 (P50S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3166492	NM_015327.3(SMG5):c.98G>A (p.Arg33Gln)	SMG5 (R33Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2339338	NM_015327.3(SMG5):c.59C>T (p.Thr20Ile)	LOC129931615, SMG5 (T20I)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2240620	NM_015327.3(SMG5):c.17C>T (p.Pro6Leu)	LOC129931615, SMG5 (P6L)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2263617	NM_015327.3(SMG5):c.11G>T (p.Gly4Val)	LOC129931615, SMG5 (G4V)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2308147	NM_032323.3(TMEM79):c.53C>T (p.Pro18Leu)	SMG5, TMEM79 (P18L)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 3179652	NM_032323.3(TMEM79):c.61A>G (p.Ser21Gly)	SMG5, TMEM79 (S21G)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3179653	NM_032323.3(TMEM79):c.68C>T (p.Pro23Leu)	SMG5, TMEM79 (P23L)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 714098	NM_032323.3(TMEM79):c.92G>A (p.Arg31Gln)	TMEM79, SMG5 (R31Q)	Single nucleotide variant (missense variant +2 more)	not provided	GBenign
Select item 2345720	NM_032323.3(TMEM79):c.212G>T (p.Ser71Ile)	SMG5, TMEM79 (S71I)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3179648	NM_032323.3(TMEM79):c.218C>T (p.Ala73Val)	SMG5, TMEM79 (A73V)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2251559	NM_032323.3(TMEM79):c.260C>T (p.Pro87Leu)	SMG5, TMEM79 (P87L)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2383839	NM_032323.3(TMEM79):c.268G>C (p.Asp90His)	SMG5, TMEM79 (D90H)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2205970	NM_032323.3(TMEM79):c.374C>T (p.Ala125Val)	SMG5, TMEM79 (A125V)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2554362	NM_032323.3(TMEM79):c.399C>G (p.Asp133Glu)	SMG5, TMEM79 (D133E)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2346573	NM_032323.3(TMEM79):c.401T>G (p.Leu134Arg)	SMG5, TMEM79 (L134R)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 746669	NM_032323.3(TMEM79):c.442C>T (p.Arg148Cys)	SMG5, TMEM79 (R148C)	Single nucleotide variant (missense variant +2 more)	not provided	GLikely benign
Select item 728138	NM_032323.3(TMEM79):c.453A>G (p.Ala151=)	SMG5, TMEM79	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 3327182	NM_032323.3(TMEM79):c.463G>A (p.Glu155Lys)	SMG5, TMEM79 (E155K)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2235902	NM_032323.3(TMEM79):c.481C>T (p.Pro161Ser)	SMG5, TMEM79 (P161S)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2589629	NM_032323.3(TMEM79):c.521G>T (p.Trp174Leu)	SMG5, TMEM79 (W174L)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2400729	NM_032323.3(TMEM79):c.535G>A (p.Val179Met)	SMG5, TMEM79 (V179M)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2613785	NM_032323.3(TMEM79):c.554C>A (p.Ser185Tyr)	SMG5, TMEM79 (S185Y)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2390511	NM_032323.3(TMEM79):c.568G>A (p.Gly190Arg)	SMG5, TMEM79 (G190R)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3327180	NM_032323.3(TMEM79):c.572G>C (p.Ser191Thr)	SMG5, TMEM79 (S191T)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2229005	NM_032323.3(TMEM79):c.583C>T (p.Arg195Cys)	TMEM79, SMG5 (R195C)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3179651	NM_032323.3(TMEM79):c.584G>A (p.Arg195His)	SMG5, TMEM79 (R195H)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2475475	NM_032323.3(TMEM79):c.614G>A (p.Gly205Glu)	SMG5, TMEM79 (G205E)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 780265	NM_032323.3(TMEM79):c.618C>G (p.Ala206=)	SMG5, TMEM79	Single nucleotide variant (synonymous variant +2 more)	not provided	GBenign
Select item 2281959	NM_032323.3(TMEM79):c.627T>G (p.Ile209Met)	SMG5, TMEM79 (I209M)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2512553	NM_032323.3(TMEM79):c.658G>A (p.Ala220Thr)	SMG5, TMEM79 (A220T)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2569779	NM_032323.3(TMEM79):c.668C>T (p.Pro223Leu)	SMG5, TMEM79 (P223L)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance

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