9698[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2664871	GRCh38/hg38 1p36.33-35.1(chr1:99125-34026935)x3	A2ML1-AS2, A3GALT2 +2151 more	Copy number gain	Trisomy 12p	GPathogenic
Select item 149963	GRCh38/hg38 1p36.11-34.2(chr1:24381206-41401517)x3	LINC02811, LITATS1 +1147 more	Copy number gain	See cases	GPathogenic
Select item 58058	GRCh38/hg38 1p36.11-35.2(chr1:26963045-32279045)x3	ADGRB2, AHDC1 +348 more	Copy number gain	See cases	GPathogenic
Select item 146124	GRCh38/hg38 1p35.3-35.1(chr1:28424867-33122854)x1	LOC129929998, LOC129929999 +293 more	Copy number loss	See cases	GPathogenic
Select item 145598	GRCh38/hg38 1p35.3-35.2(chr1:29015141-30983083)x3	EPB41, LAPTM5 +73 more	Copy number gain	See cases	GUncertain significance
Select item 154396	GRCh38/hg38 1p35.3-35.2(chr1:29274476-31126076)x1	LAPTM5, LINC01648 +64 more	Copy number loss	See cases	GPathogenic
Select item 59931	GRCh38/hg38 1p35.2-35.1(chr1:30766758-33359428)x1	A3GALT2, ADGRB2 +214 more	Copy number loss	See cases	GPathogenic
Select item 154651	GRCh38/hg38 1p35.2(chr1:30811959-31402772)x1	FABP3, LINC01778 +28 more	Copy number loss	See cases	GUncertain significance
Select item 154853	GRCh38/hg38 1p35.2(chr1:30864842-32021241)x3	ADGRB2, COL16A1 +78 more	Copy number gain	See cases	GUncertain significance
Select item 1306756	NM_001020658.2(PUM1):c.3550C>A (p.Pro1184Thr)	PUM1 (P1182T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2579492	NM_001020658.2(PUM1):c.3548C>T (p.Pro1183Leu)	PUM1 (P1181L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1698298	NM_001020658.2(PUM1):c.3469A>G (p.Thr1157Ala)	PUM1 (T1155A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 617918	NM_001020658.2(PUM1):c.3439C>T (p.Arg1147Trp)	PUM1 (R1145W +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with motor abnormalities, seizures, and facial dysmorphism +3 more	GPathogenic/Likely pathogenic
Select item 2574463	NM_001020658.2(PUM1):c.3422T>C (p.Ile1141Thr)	PUM1 (I1139T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 617929	NM_001020658.2(PUM1):c.3415C>T (p.Arg1139Trp)	PUM1 (R1137W +1 more)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia 47	GLikely pathogenic
Select item 2901483	NM_001020658.2(PUM1):c.3365A>T (p.Tyr1122Phe)	PUM1 (Y1120F +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3252350	NM_001020658.2(PUM1):c.3349A>T (p.Met1117Leu)	PUM1 (M1115L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3252923	NM_001020658.2(PUM1):c.3343T>C (p.Tyr1115His)	PUM1 (Y1113H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2446189	NM_001020658.2(PUM1):c.3325G>A (p.Gly1109Ser)	PUM1 (G1107S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2631382	NM_001020658.2(PUM1):c.3301G>A (p.Asp1101Asn)	PUM1 (D1099N +1 more)	Single nucleotide variant (missense variant)	PUM1-related disorder	GUncertain significance
Select item 2638593	NM_001020658.2(PUM1):c.3291T>C (p.Ala1097=)	PUM1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1695577	NM_001020658.2(PUM1):c.3286C>T (p.Arg1096Cys)	PUM1 (R1094C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 984641	NM_001020658.2(PUM1):c.3283G>A (p.Glu1095Lys)	PUM1 (E1093K +1 more)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia 47	GUncertain significance
Select item 3054980	NM_001020658.2(PUM1):c.3282G>A (p.Thr1094=)	PUM1	Single nucleotide variant (synonymous variant)	PUM1-related disorder	GLikely benign
Select item 2253655	NM_001020658.2(PUM1):c.3277C>T (p.Arg1093Cys)	PUM1 (R1093C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1064828	NM_001020658.2(PUM1):c.3267_3270del (p.His1090fs)	PUM1 (H1088fs +1 more)	Deletion (frameshift variant)	not provided +1 more	GUncertain significance
Select item 1232135	NM_001020658.2(PUM1):c.3243-46_3243-45del	PUM1	Deletion (intron variant)	Spinocerebellar ataxia 47 +1 more	GBenign
Select item 1237249	NM_001020658.2(PUM1):c.3242+26A>G	PUM1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3052957	NM_001020658.2(PUM1):c.3220T>C (p.Leu1074=)	PUM1	Single nucleotide variant (synonymous variant)	PUM1-related disorder	GLikely benign
Select item 3366161	NM_001020658.2(PUM1):c.3209A>G (p.Asn1070Ser)	PUM1 (N1068S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2483934	NM_001020658.2(PUM1):c.3167G>A (p.Arg1056His)	PUM1 (R1056H +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1310316	NM_001020658.2(PUM1):c.3121-7C>G	PUM1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 3053274	NM_001020658.2(PUM1):c.3120+8A>T	PUM1	Single nucleotide variant (intron variant)	PUM1-related disorder	GBenign
Select item 3053019	NM_001020658.2(PUM1):c.3120+7G>T	PUM1	Single nucleotide variant (intron variant)	PUM1-related disorder	GBenign
Select item 2661920	NM_001020658.2(PUM1):c.3106G>A (p.Glu1036Lys)	PUM1 (E1034K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 617924	NM_001020658.2(PUM1):c.3103A>T (p.Thr1035Ser)	PUM1 (T1033S +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely pathogenic
Select item 1690434	NM_001020658.2(PUM1):c.3101A>G (p.His1034Arg)	PUM1 (H1032R +1 more)	Single nucleotide variant (missense variant)	See cases	GUncertain significance
Select item 1031839	NM_001020658.2(PUM1):c.3028C>T (p.Arg1010Ter)	PUM1 (R1010* +1 more)	Single nucleotide variant (nonsense)	Spinocerebellar ataxia 47	GPathogenic
Select item 1274134	NM_001020658.2(PUM1):c.2995-112TA[18]	PUM1	Microsatellite (intron variant)	not provided	GBenign
Select item 1262198	NM_001020658.2(PUM1):c.2995-112TA[16]	PUM1	Microsatellite (intron variant)	not provided	GBenign
Select item 1258650	NM_001020658.2(PUM1):c.2995-70del	PUM1	Deletion (intron variant)	not provided	GBenign
Select item 1264905	NM_001020658.2(PUM1):c.2995-86_2995-72del	PUM1	Deletion (intron variant)	not provided	GBenign
Select item 1237450	NM_001020658.2(PUM1):c.2995-84_2995-72del	PUM1	Deletion (intron variant)	not provided	GBenign
Select item 1242113	NM_001020658.2(PUM1):c.2994+74G>A	PUM1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3377980	NM_001020658.2(PUM1):c.2993A>G (p.Gln998Arg)	PUM1 (Q996R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2638594	NM_001020658.2(PUM1):c.2976C>T (p.Ile992=)	PUM1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3149785	NM_001020658.2(PUM1):c.2975T>C (p.Ile992Thr)	PUM1 (I990T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3068915	NM_001020658.2(PUM1):c.2881G>C (p.Gly961Arg)	PUM1 (G959R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1675357	NM_001020658.2(PUM1):c.2865G>A (p.Met955Ile)	PUM1 (M953I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1291380	NM_001020658.2(PUM1):c.2857-211_2857-209del	PUM1	Deletion (intron variant)	not provided	GBenign
Select item 1246435	NM_001020658.2(PUM1):c.2856+175G>A	PUM1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2342728	NM_001020658.2(PUM1):c.2854A>G (p.Ile952Val)	PUM1 (I952V)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GLikely benign
Select item 2578297	NM_001020658.2(PUM1):c.2813T>C (p.Ile938Thr)	PUM1 (I938T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3365457	NM_001020658.2(PUM1):c.2792A>G (p.Gln931Arg)	PUM1 (Q931R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 788765	NM_001020658.2(PUM1):c.2727C>T (p.Gly909=)	PUM1	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 2638595	NM_001020658.2(PUM1):c.2722-8A>T	PUM1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1238402	NM_001020658.2(PUM1):c.2721+192C>T	LOC126805680, PUM1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2632420	NM_001020658.2(PUM1):c.2700C>G (p.Tyr900Ter)	LOC126805680, PUM1 (Y900*)	Single nucleotide variant (nonsense)	PUM1-related disorder	GUncertain significance
Select item 2663728	NM_001020658.2(PUM1):c.2669A>G (p.Tyr890Cys)	LOC126805680, PUM1 (Y890C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3025349	NM_001020658.2(PUM1):c.2648A>G (p.Asn883Ser)	LOC126805680, PUM1 (N883S)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2499190	NM_001020658.2(PUM1):c.2637G>T (p.Gln879His)	LOC126805680, PUM1 (Q879H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1708665	NM_001020658.2(PUM1):c.2636A>G (p.Gln879Arg)	LOC126805680, PUM1 (Q879R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2636542	NM_001020658.2(PUM1):c.2615G>T (p.Arg872Leu)	LOC126805680, PUM1 (R872L)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2582754	NM_001020658.2(PUM1):c.2592-5T>G	LOC126805680, PUM1	Single nucleotide variant (intron variant)	Spinocerebellar ataxia 47	GUncertain significance
Select item 1012176	NM_001020658.2(PUM1):c.2559A>G (p.Ile853Met)	PUM1 (I853M)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia 47	GUncertain significance
Select item 1311353	NM_001020658.2(PUM1):c.2540G>A (p.Arg847Gln)	PUM1 (R847Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2517460	NM_001020658.2(PUM1):c.2528A>G (p.Asn843Ser)	PUM1 (N843S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2634844	NM_001020658.2(PUM1):c.2519G>A (p.Arg840Gln)	PUM1 (R840Q)	Single nucleotide variant (missense variant)	PUM1-related disorder	GUncertain significance
Select item 916512	NM_001020658.2(PUM1):c.2518C>T (p.Arg840Trp)	PUM1 (R840W)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 3149783	NM_001020658.2(PUM1):c.2500G>T (p.Glu834Ter)	PUM1 (E834*)	Single nucleotide variant (nonsense)	Inborn genetic diseases	GPathogenic
Select item 1343285	NM_001020658.2(PUM1):c.2420C>T (p.Pro807Leu)	PUM1 (P807L)	Single nucleotide variant (missense variant)	Spinocerebellar ataxia 47	GUncertain significance
Select item 973000	NM_001020658.2(PUM1):c.2405C>T (p.Ser802Phe)	PUM1 (S802F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2267435	NM_001020658.2(PUM1):c.2402C>T (p.Ala801Val)	PUM1 (A801V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3342459	NM_001020658.2(PUM1):c.2401G>T (p.Ala801Ser)	PUM1 (A801S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2335213	NM_001020658.2(PUM1):c.2401G>A (p.Ala801Thr)	PUM1 (A801T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1012521	NM_001020658.2(PUM1):c.2352C>G (p.Tyr784Ter)	PUM1 (Y784*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 3064713	NM_001020658.2(PUM1):c.2342G>A (p.Ser781Asn)	PUM1 (S781N)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with motor abnormalities, seizures, and facial dysmorphism	GUncertain significance
Select item 1288095	NM_001020658.2(PUM1):c.2337T>C (p.Asn779=)	PUM1	Single nucleotide variant (synonymous variant)	Spinocerebellar ataxia 47 +1 more	GBenign
Select item 2306251	NM_001020658.2(PUM1):c.2333C>A (p.Thr778Lys)	PUM1 (T778K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3044415	NM_001020658.2(PUM1):c.2323+10A>G	PUM1	Single nucleotide variant (intron variant)	PUM1-related disorder	GLikely benign
Select item 1311880	NM_001020658.2(PUM1):c.2269C>T (p.Gln757Ter)	PUM1 (Q757*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2301741	NM_001020658.2(PUM1):c.2258C>T (p.Pro753Leu)	PUM1 (P753L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 932498	NM_001020658.2(PUM1):c.2180T>C (p.Ile727Thr)	PUM1 (I727T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1197423	NM_001020658.2(PUM1):c.2126C>T (p.Ser709Phe)	PUM1 (S709F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2347117	NM_001020658.2(PUM1):c.2087T>C (p.Val696Ala)	PUM1 (V696A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3368813	NM_001020658.2(PUM1):c.2051C>A (p.Thr684Asn)	PUM1 (T684N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1308262	NM_001020658.2(PUM1):c.2044G>A (p.Gly682Ser)	PUM1 (G682S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1879082	NM_001020658.2(PUM1):c.2043C>T (p.Leu681=)	PUM1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3371147	NM_001020658.2(PUM1):c.2038T>A (p.Ser680Thr)	PUM1 (S680T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2214341	NM_001020658.2(PUM1):c.2033G>A (p.Ser678Asn)	PUM1 (S678N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3253296	NM_001020658.2(PUM1):c.2026G>A (p.Gly676Arg)	PUM1 (G676R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1698225	NM_001020658.2(PUM1):c.2003C>T (p.Pro668Leu)	PUM1 (P668L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1708722	NM_001020658.2(PUM1):c.1974C>G (p.Ser658Arg)	PUM1 (S658R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1710470	NM_001020658.2(PUM1):c.1972A>C (p.Ser658Arg)	PUM1 (S658R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3343724	NM_001020658.2(PUM1):c.1959C>G (p.Ser653Arg)	PUM1 (S653R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2541553	NM_001020658.2(PUM1):c.1958G>A (p.Ser653Asn)	PUM1 (S653N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2638596	NM_001020658.2(PUM1):c.1938C>T (p.Tyr646=)	PUM1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 977328	NM_001020658.2(PUM1):c.1927A>G (p.Ser643Gly)	PUM1 (S643G)	Single nucleotide variant (missense variant)	Seizure	GUncertain significance
Select item 2505832	NM_001020658.2(PUM1):c.1921G>A (p.Ala641Thr)	PUM1 (A641T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2475871	NM_001020658.2(PUM1):c.1918C>G (p.Leu640Val)	PUM1 (L640V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

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