ClinVar for Gene (Select 23363) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3336069	NM_015311.3(OBSL1):c.790A>G (p.Lys264Glu)	OBSL1 (K264E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3326911	NM_001005209.3(TMEM198):c.595C>A (p.Arg199Ser)	OBSL1, TMEM198 (R199S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3302117	NM_015311.3(OBSL1):c.3017G>A (p.Cys1006Tyr)	OBSL1 (C1006Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3302116	NM_015311.3(OBSL1):c.5606A>G (p.Asp1869Gly)	OBSL1 (D1869G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3302115	NM_015311.3(OBSL1):c.2138G>A (p.Ser713Asn)	OBSL1 (S713N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3302114	NM_015311.3(OBSL1):c.817C>T (p.Pro273Ser)	OBSL1 (P273S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3302113	NM_015311.3(OBSL1):c.30C>G (p.Ser10Arg)	OBSL1 (S10R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3302112	NM_015311.3(OBSL1):c.4810G>C (p.Ala1604Pro)	OBSL1 (A1604P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3302111	NM_015311.3(OBSL1):c.967A>C (p.Asn323His)	OBSL1 (N323H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3302110	NM_015311.3(OBSL1):c.5087G>C (p.Gly1696Ala)	OBSL1 (G1696A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3302109	NM_015311.3(OBSL1):c.2185A>G (p.Thr729Ala)	OBSL1 (T729A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3302108	NM_015311.3(OBSL1):c.1261G>A (p.Val421Met)	OBSL1 (V421M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3302107	NM_015311.3(OBSL1):c.2915T>C (p.Ile972Thr)	OBSL1 (I972T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3302106	NM_015311.3(OBSL1):c.5116C>T (p.Arg1706Cys)	OBSL1 (R1706C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3302105	NM_015311.3(OBSL1):c.4759A>G (p.Ile1587Val)	OBSL1 (I1587V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3302104	NM_015311.3(OBSL1):c.664G>A (p.Ala222Thr)	OBSL1 (A222T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3302103	NM_015311.3(OBSL1):c.4400G>A (p.Cys1467Tyr)	OBSL1 (C1467Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3302102	NM_015311.3(OBSL1):c.4561G>A (p.Gly1521Ser)	OBSL1 (G1521S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3302101	NM_015311.3(OBSL1):c.1048G>A (p.Val350Met)	OBSL1 (V350M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3257733	NM_015311.3(OBSL1):c.1838-2_1838-1del	OBSL1	Deletion (splice acceptor variant)	3M syndrome 2	GLikely pathogenic
Select item 3250434	NM_015311.3(OBSL1):c.4813G>A (p.Asp1605Asn)	OBSL1 (D1605N)	Single nucleotide variant (missense variant)	3M syndrome 2	GUncertain significance
Select item 3235026	NM_015311.3(OBSL1):c.4360C>T (p.Arg1454Trp)	OBSL1 (R1454W)	Single nucleotide variant (missense variant)	3M syndrome 2	GUncertain significance
Select item 3235025	NM_015311.3(OBSL1):c.3095G>A (p.Ser1032Asn)	OBSL1 (S1032N)	Single nucleotide variant (missense variant)	3M syndrome 2	GUncertain significance
Select item 3233513	NM_015311.3(OBSL1):c.4587C>A (p.Thr1529=)	OBSL1	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3233392	NM_015311.3(OBSL1):c.629A>G (p.His210Arg)	OBSL1 (H210R)	Single nucleotide variant (missense variant)	3M syndrome 2	GLikely benign
Select item 3203906	NM_015311.3(OBSL1):c.898G>T (p.Gly300Cys)	OBSL1 (G300C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3203904	NM_015311.3(OBSL1):c.5180C>G (p.Ser1727Trp)	OBSL1 (S1727W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3203902	NM_015311.3(OBSL1):c.4655G>C (p.Ser1552Thr)	OBSL1 (S1552T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3203901	NM_015311.3(OBSL1):c.4305C>G (p.Ser1435Arg)	OBSL1 (S1435R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3203900	NM_015311.3(OBSL1):c.4078G>A (p.Val1360Met)	OBSL1 (V1360M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3203899	NM_015311.3(OBSL1):c.3941G>C (p.Arg1314Pro)	OBSL1 (R1314P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3203897	NM_015311.3(OBSL1):c.3677C>T (p.Pro1226Leu)	OBSL1 (P1226L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3203894	NM_015311.3(OBSL1):c.3097G>A (p.Glu1033Lys)	OBSL1 (E1033K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3203891	NM_015311.3(OBSL1):c.1946T>C (p.Leu649Pro)	OBSL1 (L649P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3203889	NM_015311.3(OBSL1):c.1339G>C (p.Val447Leu)	OBSL1 (V447L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3203888	NM_015311.3(OBSL1):c.1223G>C (p.Gly408Ala)	OBSL1 (G408A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3179086	NM_001005209.3(TMEM198):c.925A>G (p.Asn309Asp)	OBSL1, TMEM198 (N309D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3179084	NM_001005209.3(TMEM198):c.532G>A (p.Val178Met)	OBSL1, TMEM198 (V178M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3179083	NM_001005209.3(TMEM198):c.218C>T (p.Ser73Leu)	OBSL1, TMEM198 (S73L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3148939	GRCh37/hg19 2q35-37.3(chr2:216815496-242782258)x3	AAMP, ABCB6 +218 more	Copy number gain	See cases	GPathogenic
Select item 3065682	NM_015311.3(OBSL1):c.4596G>T (p.Arg1532Ser)	OBSL1 (R1532S)	Single nucleotide variant (missense variant)	3M syndrome 2	GUncertain significance
Select item 3063787	NM_015311.3(OBSL1):c.3947A>G (p.Gln1316Arg)	OBSL1 (Q1316R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3061692	NM_015311.3(OBSL1):c.1603C>G (p.Leu535Val)	OBSL1 (L535V)	Single nucleotide variant (missense variant)	OBSL1-related disorder	GUncertain significance
Select item 3049893	NM_015311.3(OBSL1):c.120G>C (p.Pro40=)	OBSL1	Single nucleotide variant (synonymous variant)	OBSL1-related disorder	GLikely benign
Select item 3045134	NM_015311.3(OBSL1):c.2680+6G>A	OBSL1	Single nucleotide variant (intron variant)	OBSL1-related disorder	GLikely benign
Select item 3043951	NM_015311.3(OBSL1):c.4167T>C (p.Asp1389=)	OBSL1	Single nucleotide variant (synonymous variant)	OBSL1-related disorder	GLikely benign
Select item 3042813	NM_015311.3(OBSL1):c.2953+431G>A	OBSL1	Single nucleotide variant (synonymous variant +1 more)	OBSL1-related disorder	GLikely benign
Select item 3040794	NM_015311.3(OBSL1):c.1359A>G (p.Leu453=)	OBSL1	Single nucleotide variant (synonymous variant)	OBSL1-related disorder	GLikely benign
Select item 3033515	NM_015311.3(OBSL1):c.2953+485C>T	OBSL1	Single nucleotide variant (synonymous variant +1 more)	OBSL1-related disorder	GLikely benign
Select item 3022243	NM_015311.3(OBSL1):c.855G>A (p.Pro285=)	OBSL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3017736	NM_015311.3(OBSL1):c.4609+18_4609+33del	OBSL1 (S1543fs)	Deletion (frameshift variant +1 more)	not provided	GLikely benign
Select item 3014920	NM_015311.3(OBSL1):c.2116G>C (p.Ala706Pro)	OBSL1 (A706P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3014765	NM_015311.3(OBSL1):c.2920G>A (p.Asp974Asn)	OBSL1 (D974N)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 3012255	NM_015311.3(OBSL1):c.5309-11C>G	OBSL1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3011812	NM_015311.3(OBSL1):c.5412G>C (p.Glu1804Asp)	OBSL1 (E1804D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3011731	NM_015311.3(OBSL1):c.3090G>A (p.Glu1030=)	OBSL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3009635	NM_015311.3(OBSL1):c.2281T>C (p.Leu761=)	OBSL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3006265	NM_015311.3(OBSL1):c.5223C>G (p.Thr1741=)	OBSL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3001513	NM_015311.3(OBSL1):c.2919C>T (p.Asp973=)	OBSL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2998830	NM_015311.3(OBSL1):c.605C>G (p.Pro202Arg)	OBSL1 (P202R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2997447	NM_015311.3(OBSL1):c.1535-17C>A	OBSL1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2994442	NM_015311.3(OBSL1):c.5308+11C>T	LOC129935660, OBSL1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2994441	NM_015311.3(OBSL1):c.5646C>G (p.Ala1882=)	OBSL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2994440	NM_015311.3(OBSL1):c.1322T>A (p.Leu441Gln)	OBSL1 (L441Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2994439	NM_015311.3(OBSL1):c.2800G>T (p.Asp934Tyr)	OBSL1 (D934Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2993385	NM_015311.3(OBSL1):c.2073C>T (p.Ser691=)	OBSL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2992904	NM_015311.3(OBSL1):c.1716C>T (p.Ala572=)	OBSL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2988305	NM_015311.3(OBSL1):c.4989+15C>G	OBSL1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2987226	NM_015311.3(OBSL1):c.306G>A (p.Leu102=)	OBSL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2985660	NM_015311.3(OBSL1):c.5453A>C (p.Lys1818Thr)	OBSL1 (K1818T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2985366	NM_015311.3(OBSL1):c.1743T>C (p.Cys581=)	OBSL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2983644	NM_015311.3(OBSL1):c.4602C>T (p.Ser1534=)	OBSL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2981815	NM_015311.3(OBSL1):c.3831G>A (p.Thr1277=)	OBSL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2979809	NM_015311.3(OBSL1):c.2382G>A (p.Ser794=)	OBSL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2977114	NM_015311.3(OBSL1):c.3775A>G (p.Thr1259Ala)	OBSL1 (T1259A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2976734	NM_015311.3(OBSL1):c.433G>A (p.Val145Met)	OBSL1 (V145M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2975736	NM_015311.3(OBSL1):c.2724G>A (p.Val908=)	OBSL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2974168	NM_015311.3(OBSL1):c.3228C>T (p.Ala1076=)	OBSL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2973287	NM_015311.3(OBSL1):c.4143T>C (p.Cys1381=)	OBSL1	Single nucleotide variant (synonymous variant)	OBSL1-related disorder +1 more	GLikely benign
Select item 2972535	NM_015311.3(OBSL1):c.4042C>T (p.Arg1348Cys)	OBSL1 (R1348C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2971748	NM_015311.3(OBSL1):c.426G>C (p.Gly142=)	OBSL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2970609	NM_015311.3(OBSL1):c.1837+20C>T	OBSL1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2970055	NM_015311.3(OBSL1):c.3351C>T (p.Asp1117=)	OBSL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2967977	NM_015311.3(OBSL1):c.4517G>A (p.Arg1506His)	OBSL1 (R1506H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2967584	NM_015311.3(OBSL1):c.396G>C (p.Thr132=)	OBSL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2967094	NM_015311.3(OBSL1):c.4830C>T (p.Ser1610=)	OBSL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2966811	NM_015311.3(OBSL1):c.1230C>G (p.Tyr410Ter)	OBSL1 (Y410*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2966420	NM_015311.3(OBSL1):c.5325G>C (p.Leu1775=)	OBSL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2965873	NM_015311.3(OBSL1):c.4877-5C>T	OBSL1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2959752	NM_015311.3(OBSL1):c.1538T>C (p.Val513Ala)	OBSL1 (V513A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2959751	NM_015311.3(OBSL1):c.4421G>A (p.Arg1474Gln)	OBSL1 (R1474Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2958852	NM_015311.3(OBSL1):c.5199C>T (p.Gly1733=)	OBSL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2956881	NM_015311.3(OBSL1):c.5082C>T (p.Asp1694=)	OBSL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2956556	NM_015311.3(OBSL1):c.1698C>T (p.Cys566=)	OBSL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2954867	NM_015311.3(OBSL1):c.1283-11C>T	OBSL1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2954866	NM_015311.3(OBSL1):c.2098C>A (p.Pro700Thr)	OBSL1 (P700T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2920178	NM_015311.3(OBSL1):c.5641C>G (p.Gln1881Glu)	OBSL1 (Q1881E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2918613	NM_015311.3(OBSL1):c.1752C>A (p.Ser584=)	OBSL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2914502	NM_015311.3(OBSL1):c.5247G>T (p.Gly1749=)	OBSL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2908642	NM_015311.3(OBSL1):c.3096C>T (p.Ser1032=)	OBSL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign

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