Related gene-specific medical variations for Gene (Select 23381) - ClinVar

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Links from Gene

Items: 47

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3179657	NM_032323.3(TMEM79):c.842G>A (p.Arg281Gln)	SMG5, TMEM79 (R281Q)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3179656	NM_032323.3(TMEM79):c.840C>G (p.His280Gln)	SMG5, TMEM79 (H280Q)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3179655	NM_032323.3(TMEM79):c.824G>A (p.Arg275Gln)	SMG5, TMEM79 (R275Q)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3179654	NM_032323.3(TMEM79):c.692C>A (p.Thr231Asn)	SMG5, TMEM79 (T231N)	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 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 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 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 3179646	NM_032323.3(TMEM79):c.1094C>T (p.Pro365Leu)	LOC111828496, SMG5 +1 more (P365L)	Single nucleotide variant (5 prime UTR 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 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 2569779	NM_032323.3(TMEM79):c.668C>T (p.Pro223Leu)	SMG5, TMEM79 (P223L)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2559851	NM_032323.3(TMEM79):c.713A>G (p.Tyr238Cys)	SMG5, TMEM79 (Y238C)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2558487	NM_032323.3(TMEM79):c.910T>C (p.Tyr304His)	SMG5, TMEM79 (Y304H)	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 2549996	NM_032323.3(TMEM79):c.844C>G (p.Arg282Gly)	SMG5, TMEM79 (R282G)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2538933	NM_032323.3(TMEM79):c.845G>A (p.Arg282Gln)	SMG5, TMEM79 (R282Q)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 2532759	NM_032323.3(TMEM79):c.707T>C (p.Leu236Pro)	SMG5, TMEM79 (L236P)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2531554	NM_032323.3(TMEM79):c.1045C>G (p.Leu349Val)	LOC111828496, SMG5 +1 more (L349V)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2517997	NM_032323.3(TMEM79):c.823C>T (p.Arg275Trp)	SMG5, TMEM79 (R275W)	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 2509457	NM_032323.3(TMEM79):c.802C>T (p.Arg268Trp)	SMG5, TMEM79 (R268W)	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 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 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 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 2363511	NM_032323.3(TMEM79):c.1078A>G (p.Met360Val)	LOC111828496, SMG5 +1 more (M360V)	Single nucleotide variant (5 prime UTR 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 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 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 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 2305070	NM_032323.3(TMEM79):c.1028G>C (p.Gly343Ala)	LOC111828496, SMG5 +1 more (G343A)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
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 2277297	NM_032323.3(TMEM79):c.970C>T (p.Arg324Trp)	SMG5, TMEM79 (R324W)	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 2258098	NM_032323.3(TMEM79):c.694A>C (p.Met232Leu)	SMG5, TMEM79 (M232L)	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 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 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 2229005	NM_032323.3(TMEM79):c.583C>T (p.Arg195Cys)	SMG5, TMEM79 (R195C)	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 780265	NM_032323.3(TMEM79):c.618C>G (p.Ala206=)	SMG5, TMEM79	Single nucleotide variant (synonymous variant +2 more)	not provided	GBenign
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 741944	NM_032323.3(TMEM79):c.771C>T (p.Tyr257=)	SMG5, TMEM79	Single nucleotide variant (synonymous variant +2 more)	not provided	GBenign
Select item 728139	NM_032323.3(TMEM79):c.996C>T (p.Ala332=)	LOC111828496, SMG5 +1 more	Single nucleotide variant (5 prime UTR 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 714098	NM_032323.3(TMEM79):c.92G>A (p.Arg31Gln)	SMG5, TMEM79 (R31Q)	Single nucleotide variant (missense variant +2 more)	not provided	GBenign

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Links from Gene

Items: 47