ClinVar for Gene (Select 285313) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3358796	NM_178822.5(IGSF10):c.4154C>G (p.Ser1385Ter)	IGSF10 (S1385*)	Single nucleotide variant (nonsense)	IGSF10-related disorder	GLikely benign
Select item 3347766	NM_178822.5(IGSF10):c.6539A>G (p.Asn2180Ser)	IGSF10 (N159S +1 more)	Single nucleotide variant (missense variant)	IGSF10-related disorder	GUncertain significance
Select item 3285632	NM_178822.5(IGSF10):c.125A>C (p.His42Pro)	IGSF10 (H42P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3285631	NM_178822.5(IGSF10):c.6175G>A (p.Asp2059Asn)	IGSF10 (D38N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3285630	NM_178822.5(IGSF10):c.6368A>G (p.Asn2123Ser)	IGSF10 (N2123S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3285629	NM_178822.5(IGSF10):c.4177T>C (p.Phe1393Leu)	IGSF10 (F1393L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3285628	NM_178822.5(IGSF10):c.6274A>G (p.Arg2092Gly)	IGSF10 (R2092G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3285627	NM_178822.5(IGSF10):c.5146C>G (p.Gln1716Glu)	IGSF10 (Q1716E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3285626	NM_178822.5(IGSF10):c.4375C>T (p.His1459Tyr)	IGSF10 (H1459Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3285625	NM_178822.5(IGSF10):c.3719C>T (p.Pro1240Leu)	IGSF10 (P1240L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3285624	NM_178822.5(IGSF10):c.89C>T (p.Pro30Leu)	IGSF10 (P30L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3285623	NM_178822.5(IGSF10):c.3490C>T (p.Arg1164Cys)	IGSF10 (R1164C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3285622	NM_178822.5(IGSF10):c.3865C>T (p.Leu1289Phe)	IGSF10 (L1289F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3285621	NM_178822.5(IGSF10):c.2452G>T (p.Ala818Ser)	IGSF10 (A818S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3285620	NM_178822.5(IGSF10):c.5810G>A (p.Arg1937Gln)	IGSF10 (R1937Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3285619	NM_178822.5(IGSF10):c.5513T>C (p.Ile1838Thr)	IGSF10 (I1838T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3285618	NM_178822.5(IGSF10):c.5524C>T (p.Pro1842Ser)	IGSF10 (P1842S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3285617	NM_178822.5(IGSF10):c.3661A>G (p.Asn1221Asp)	IGSF10 (N1221D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3285616	NM_178822.5(IGSF10):c.5407G>A (p.Gly1803Arg)	IGSF10 (G1803R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3285614	NM_178822.5(IGSF10):c.4720C>A (p.Gln1574Lys)	IGSF10 (Q1574K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3285613	NM_178822.5(IGSF10):c.7346C>T (p.Ser2449Phe)	IGSF10 (S2449F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3285612	NM_178822.5(IGSF10):c.6566G>A (p.Arg2189Lys)	IGSF10 (R2189K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3285611	NM_178822.5(IGSF10):c.6335C>T (p.Ala2112Val)	IGSF10 (A2112V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3285610	NM_178822.5(IGSF10):c.4138A>G (p.Thr1380Ala)	IGSF10 (T1380A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3285609	NM_178822.5(IGSF10):c.3533C>T (p.Thr1178Ile)	IGSF10 (T1178I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3124895	NM_001393769.1(MED12L):c.6495C>G (p.Asn2165Lys)	IGSF10, MED12L (N2130K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3108832	NM_178822.5(IGSF10):c.7303C>A (p.Leu2435Ile)	IGSF10 (L2435I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3108831	NM_178822.5(IGSF10):c.7300A>G (p.Ile2434Val)	IGSF10 (I2434V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3108830	NM_178822.5(IGSF10):c.7169T>C (p.Ile2390Thr)	IGSF10 (I369T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3108829	NM_178822.5(IGSF10):c.6997A>G (p.Met2333Val)	IGSF10 (M2333V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3108828	NM_178822.5(IGSF10):c.6938G>C (p.Cys2313Ser)	IGSF10 (C292S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3108827	NM_178822.5(IGSF10):c.6931T>G (p.Phe2311Val)	IGSF10 (F290V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3108826	NM_178822.5(IGSF10):c.6880A>C (p.Lys2294Gln)	IGSF10 (K273Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3108825	NM_178822.5(IGSF10):c.6879T>G (p.His2293Gln)	IGSF10 (H2293Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3108822	NM_178822.5(IGSF10):c.6650A>G (p.Asn2217Ser)	IGSF10 (N196S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3108821	NM_178822.5(IGSF10):c.6560T>C (p.Ile2187Thr)	IGSF10 (I2187T +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3108820	NM_178822.5(IGSF10):c.6398A>C (p.His2133Pro)	IGSF10 (H112P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3108819	NM_178822.5(IGSF10):c.624G>A (p.Met208Ile)	IGSF10 (M208I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3108818	NM_178822.5(IGSF10):c.613G>A (p.Val205Ile)	IGSF10 (V205I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3108817	NM_178822.5(IGSF10):c.54C>G (p.Ile18Met)	IGSF10 (I18M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3108816	NM_178822.5(IGSF10):c.5497G>A (p.Val1833Ile)	IGSF10 (V1833I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3108815	NM_178822.5(IGSF10):c.5443C>G (p.Arg1815Gly)	IGSF10 (R1815G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3108814	NM_178822.5(IGSF10):c.5251C>A (p.Arg1751Ser)	IGSF10 (R1751S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3108813	NM_178822.5(IGSF10):c.5130C>G (p.Ile1710Met)	IGSF10 (I1710M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3108812	NM_178822.5(IGSF10):c.5117G>C (p.Gly1706Ala)	IGSF10 (G1706A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3108811	NM_178822.5(IGSF10):c.5096G>A (p.Arg1699Lys)	IGSF10 (R1699K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3108810	NM_178822.5(IGSF10):c.4946G>C (p.Arg1649Thr)	IGSF10 (R1649T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3108809	NM_178822.5(IGSF10):c.4640T>C (p.Leu1547Ser)	IGSF10 (L1547S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3108808	NM_178822.5(IGSF10):c.4129C>T (p.Pro1377Ser)	IGSF10 (P1377S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3108807	NM_178822.5(IGSF10):c.4064G>C (p.Arg1355Thr)	IGSF10 (R1355T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3108806	NM_178822.5(IGSF10):c.3976C>T (p.Pro1326Ser)	IGSF10 (P1326S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3108805	NM_178822.5(IGSF10):c.3737A>C (p.Lys1246Thr)	IGSF10 (K1246T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3108804	NM_178822.5(IGSF10):c.3718C>T (p.Pro1240Ser)	IGSF10 (P1240S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3108803	NM_178822.5(IGSF10):c.3715T>G (p.Ser1239Ala)	IGSF10 (S1239A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3108802	NM_178822.5(IGSF10):c.3350C>T (p.Pro1117Leu)	IGSF10 (P1117L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3108801	NM_178822.5(IGSF10):c.3340G>C (p.Glu1114Gln)	IGSF10 (E1114Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3108800	NM_178822.5(IGSF10):c.3236T>C (p.Leu1079Ser)	IGSF10 (L1079S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3108799	NM_178822.5(IGSF10):c.2935A>C (p.Thr979Pro)	IGSF10 (T979P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3108798	NM_178822.5(IGSF10):c.2633T>A (p.Met878Lys)	IGSF10 (M878K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3108797	NM_178822.5(IGSF10):c.2478A>C (p.Arg826Ser)	IGSF10 (R826S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3108796	NM_178822.5(IGSF10):c.2206C>T (p.Arg736Cys)	IGSF10 (R736C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3108795	NM_178822.5(IGSF10):c.2186G>A (p.Arg729His)	IGSF10 (R729H)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3108794	NM_178822.5(IGSF10):c.2047G>A (p.Glu683Lys)	IGSF10 (E683K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3108793	NM_178822.5(IGSF10):c.193G>A (p.Gly65Arg)	IGSF10 (G65R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3108792	NM_178822.5(IGSF10):c.1840G>A (p.Val614Met)	IGSF10 (V614M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3108791	NM_178822.5(IGSF10):c.1628G>C (p.Ser543Thr)	IGSF10 (S543T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3108790	NM_178822.5(IGSF10):c.1268G>T (p.Arg423Ile)	IGSF10 (R423I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3108789	NM_178822.5(IGSF10):c.1061T>C (p.Leu354Pro)	IGSF10 (L354P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3057380	NM_178822.5(IGSF10):c.2275C>T (p.Leu759=)	IGSF10	Single nucleotide variant (synonymous variant)	IGSF10-related disorder	GLikely benign
Select item 3052683	NM_178822.5(IGSF10):c.2607C>T (p.Ala869=)	IGSF10	Single nucleotide variant (synonymous variant)	IGSF10-related disorder	GLikely benign
Select item 3050007	NM_178822.5(IGSF10):c.6215G>A (p.Trp2072Ter)	IGSF10 (W2072* +1 more)	Single nucleotide variant (nonsense)	IGSF10-related disorder	GUncertain significance
Select item 3048725	NM_178822.5(IGSF10):c.3537G>A (p.Ser1179=)	IGSF10	Single nucleotide variant (synonymous variant)	IGSF10-related disorder	GLikely benign
Select item 3045893	NM_178822.5(IGSF10):c.6245A>G (p.Asn2082Ser)	IGSF10 (N2082S +1 more)	Single nucleotide variant (missense variant)	IGSF10-related disorder	GLikely benign
Select item 3045294	NM_178822.5(IGSF10):c.6405A>C (p.Thr2135=)	IGSF10	Single nucleotide variant (synonymous variant)	IGSF10-related disorder	GLikely benign
Select item 3044914	NM_178822.5(IGSF10):c.2180A>G (p.Gln727Arg)	IGSF10 (Q727R)	Single nucleotide variant (missense variant)	IGSF10-related disorder	GLikely benign
Select item 3043628	NM_178822.5(IGSF10):c.1671T>C (p.Asp557=)	IGSF10	Single nucleotide variant (synonymous variant)	IGSF10-related disorder	GLikely benign
Select item 3040631	NM_178822.5(IGSF10):c.3051C>A (p.Gly1017=)	IGSF10	Single nucleotide variant (synonymous variant)	IGSF10-related disorder	GLikely benign
Select item 3035993	NM_178822.5(IGSF10):c.6457A>G (p.Ile2153Val)	IGSF10 (I132V +1 more)	Single nucleotide variant (missense variant)	IGSF10-related disorder	GLikely benign
Select item 3022054	NM_178822.5(IGSF10):c.804G>A (p.Pro268=)	IGSF10	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3012107	NM_178822.5(IGSF10):c.5775G>A (p.Ser1925=)	IGSF10	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3003487	NM_178822.5(IGSF10):c.1385G>A (p.Arg462Lys)	IGSF10 (R462K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3002734	NM_178822.5(IGSF10):c.765T>C (p.Cys255=)	IGSF10	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3002249	NM_178822.5(IGSF10):c.7314A>G (p.Ala2438=)	IGSF10	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2995809	NM_178822.5(IGSF10):c.165C>G (p.Ile55Met)	IGSF10 (I55M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2984673	NM_178822.5(IGSF10):c.1024C>T (p.Pro342Ser)	IGSF10 (P342S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2981909	NM_178822.5(IGSF10):c.3248G>C (p.Ser1083Thr)	IGSF10 (S1083T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2981566	NM_178822.5(IGSF10):c.7152_7153del (p.Ser2385fs)	IGSF10 (S364fs +1 more)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 2978744	NM_178822.5(IGSF10):c.1328C>T (p.Thr443Ile)	IGSF10 (T443I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2965285	NM_178822.5(IGSF10):c.325-17T>C	IGSF10	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2964491	NM_178822.5(IGSF10):c.1021T>A (p.Ser341Thr)	IGSF10 (S341T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2961478	NM_178822.5(IGSF10):c.94C>T (p.Arg32Cys)	IGSF10 (R32C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2959338	NM_178822.5(IGSF10):c.3677G>A (p.Ser1226Asn)	IGSF10 (S1226N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2918545	NM_178822.5(IGSF10):c.1930C>T (p.Arg644Cys)	IGSF10 (R644C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2917716	NM_178822.5(IGSF10):c.5996dup (p.Ser2000fs)	IGSF10 (S2000fs)	Duplication (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2912482	NM_178822.5(IGSF10):c.2400C>T (p.Leu800=)	IGSF10	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2907799	NM_178822.5(IGSF10):c.1212T>C (p.Tyr404=)	IGSF10	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2907703	NM_178822.5(IGSF10):c.2673C>T (p.Ser891=)	IGSF10	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2907349	NM_178822.5(IGSF10):c.1297del (p.Gln433fs)	IGSF10 (Q433fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 2896315	NM_178822.5(IGSF10):c.1477G>A (p.Val493Ile)	IGSF10 (V493I)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 2895264	NM_178822.5(IGSF10):c.7109T>C (p.Ile2370Thr)	IGSF10 (I349T +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance

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