11427[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59410	GRCh38/hg38 16p13.3(chr16:23141-1712523)x1	ANTKMT, ARHGDIG +194 more	Copy number loss	See cases	GPathogenic
Select item 59409	GRCh38/hg38 16p13.3(chr16:23141-1773349)x1	ANTKMT, ARHGDIG +210 more	Copy number loss	See cases	GPathogenic
Select item 58594	GRCh38/hg38 16p13.3-13.13(chr16:23141-11296695)x3	ABAT, ABCA3 +822 more	Copy number gain	See cases	GPathogenic
Select item 58595	GRCh38/hg38 16p13.3(chr16:29941-2560460)x3	ABCA3, AMDHD2 +356 more	Copy number gain	See cases	GPathogenic
Select item 150284	GRCh38/hg38 16p13.3-13.12(chr16:43732-13326806)x3	EEF2KMT, ELOB +917 more	Copy number gain	See cases	GPathogenic
Select item 148760	GRCh38/hg38 16p13.3(chr16:46722-1867327)x1	ANTKMT, ARHGDIG +224 more	Copy number loss	See cases	GPathogenic
Select item 148917	GRCh38/hg38 16p13.3(chr16:46766-882211)x1	NHLRC4, NME4 +119 more	Copy number loss	See cases	GPathogenic
Select item 147509	GRCh38/hg38 16p13.3(chr16:46766-4247185)x3	LOC125146383, LOC125146384 +556 more	Copy number gain	See cases	GPathogenic
Select item 145576	GRCh38/hg38 16p13.3(chr16:46766-1544014)x1	ANTKMT, ARHGDIG +179 more	Copy number loss	See cases	GPathogenic
Select item 144298	GRCh38/hg38 16p13.3-13.13(chr16:46766-11525516)x3	ABAT, ABCA3 +843 more	Copy number gain	See cases	GPathogenic
Select item 59411	GRCh38/hg38 16p13.3(chr16:46766-1997582)x1	ANTKMT, ARHGDIG +253 more	Copy number loss	See cases	GPathogenic
Select item 58597	GRCh38/hg38 16p13.3(chr16:46766-3214623)x3	ARHGDIG, ATP6V0C +482 more	Copy number gain	See cases	GPathogenic
Select item 152879	GRCh38/hg38 16p13.3(chr16:59980-1221651)x1	ANTKMT, ARHGDIG +130 more	Copy number loss	See cases	GPathogenic
Select item 59425	GRCh38/hg38 16p13.3(chr16:105429-1499893)x1	ANTKMT, ARHGDIG +164 more	Copy number loss	See cases	GPathogenic
Select item 150513	GRCh38/hg38 16p13.3(chr16:412341-925326)x3	ANTKMT, CAPN15 +76 more	Copy number gain	See cases	GUncertain significance
Select item 151645	GRCh38/hg38 16p13.3(chr16:534395-722554)x3	ANTKMT, CAPN15 +47 more	Copy number gain	See cases	GBenign
Select item 145938	GRCh38/hg38 16p13.3(chr16:551385-722554)x3	ANTKMT, CAPN15 +45 more	Copy number gain	See cases	GLikely benign
Select item 151633	GRCh38/hg38 16p13.3(chr16:636673-786508)x3	ANTKMT, CCDC78 +40 more	Copy number gain	See cases	GBenign
Select item 145245	GRCh38/hg38 16p13.3(chr16:636673-722554)x1	ANTKMT, FBXL16 +26 more	Copy number loss	See cases	GBenign
Select item 145243	GRCh38/hg38 16p13.3(chr16:636673-722554)x3	LOC130058119, LOC130058120 +26 more	Copy number gain	See cases	GBenign
Select item 152593	GRCh38/hg38 16p13.3(chr16:650260-722554)x1	ANTKMT, FBXL16 +18 more	Copy number loss	See cases	GBenign
Select item 155643	GRCh38/hg38 16p13.3-13.11(chr16:666662-15743104)x3	ABAT, ABCA3 +926 more	Copy number gain	See cases	GPathogenic
Select item 1242568	NC_000016.10:g.679825A>G	STUB1	Single nucleotide variant	not provided	GBenign
Select item 1231549	NC_000016.10:g.679831C>T	STUB1	Single nucleotide variant	not provided	GBenign
Select item 1526326	NC_000016.10:g.679958_680054del	LOC130058120, STUB1	Deletion	not provided	GBenign
Select item 1281841	NC_000016.10:g.679981_680045del	LOC130058120, STUB1	Deletion	not provided	GBenign
Select item 1246971	NC_000016.10:g.680074G>A	STUB1	Single nucleotide variant	not provided	GBenign
Select item 1231278	NC_000016.10:g.680226G>C	STUB1	Single nucleotide variant	not provided	GBenign
Select item 1723009	NM_005861.4(STUB1):c.-96C>T	LOC130058121, STUB1	Single nucleotide variant (5 prime UTR variant)	not provided	GLikely benign
Select item 1913883	NM_005861.4(STUB1):c.15G>A (p.Glu5=)	STUB1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2534652	NM_005861.4(STUB1):c.25G>A (p.Gly9Ser)	STUB1 (G9S)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1930042	NM_005861.4(STUB1):c.31G>A (p.Ala11Thr)	STUB1 (A11T)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 3339948	NM_005861.4(STUB1):c.42C>A (p.Gly14=)	STUB1	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GLikely benign
Select item 3339947	NM_005861.4(STUB1):c.42C>T (p.Gly14=)	STUB1	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GLikely benign
Select item 1715960	NM_005861.4(STUB1):c.43G>T (p.Ala15Ser)	STUB1 (A15S)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1879317	NM_005861.4(STUB1):c.44C>T (p.Ala15Val)	STUB1 (A15V)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2573790	NM_005861.4(STUB1):c.52G>A (p.Gly18Arg)	STUB1 (G18R)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2012538	NM_005861.4(STUB1):c.57C>T (p.Ser19=)	STUB1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 3030006	NM_005861.4(STUB1):c.60C>T (p.Pro20=)	STUB1	Single nucleotide variant (5 prime UTR variant +1 more)	STUB1-related disorder	GLikely benign
Select item 2900636	NM_005861.4(STUB1):c.60C>G (p.Pro20=)	STUB1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2133136	NM_005861.4(STUB1):c.60C>A (p.Pro20=)	STUB1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 986942	NM_005861.4(STUB1):c.65del (p.Lys22fs)	STUB1 (K22fs)	Deletion (5 prime UTR variant +1 more)	not provided	GPathogenic
Select item 2645844	NM_005861.4(STUB1):c.76G>A (p.Ala26Thr)	STUB1 (A26T)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 997699	NM_005861.4(STUB1):c.97G>A (p.Gly33Ser)	STUB1 (G33S)	Single nucleotide variant (5 prime UTR variant +1 more)	Spinocerebellar ataxia 48	GPathogenic
Select item 807330	NM_005861.4(STUB1):c.101A>G (p.Asn34Ser)	STUB1 (N34S)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1809905	NM_005861.4(STUB1):c.104G>C (p.Arg35Pro)	STUB1 (R35P)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1297589	NM_005861.4(STUB1):c.107T>C (p.Leu36Pro)	STUB1 (L36P)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 3340853	NM_005861.4(STUB1):c.111C>G (p.Phe37Leu)	STUB1 (F37L)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1306660	NM_005861.4(STUB1):c.116G>A (p.Gly39Asp)	STUB1 (G39D)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1333421	NM_005861.4(STUB1):c.134C>A (p.Ala45Glu)	STUB1 (A45E)	Single nucleotide variant (5 prime UTR variant +1 more)	Spinocerebellar ataxia 48	GUncertain significance
Select item 1722413	NM_005861.4(STUB1):c.143G>A (p.Cys48Tyr)	STUB1 (C48Y)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GUncertain significance
Select item 3251344	NM_005861.4(STUB1):c.144C>T (p.Cys48=)	STUB1	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GLikely benign
Select item 2832226	NM_005861.4(STUB1):c.145T>G (p.Tyr49Asp)	STUB1 (Y49D)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1697978	NM_005861.4(STUB1):c.146A>G (p.Tyr49Cys)	STUB1 (Y49C)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GConflicting classifications of pathogenicity
Select item 1333940	NM_005861.4(STUB1):c.154G>A (p.Ala52Thr)	STUB1 (A52T)	Single nucleotide variant (5 prime UTR variant +1 more)	Spinocerebellar ataxia 48	GUncertain significance
Select item 1295562	NM_005861.4(STUB1):c.159+146C>T	STUB1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1705003	NM_005861.4(STUB1):c.159+195G>C	STUB1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1293135	NM_005861.4(STUB1):c.160-197A>T	STUB1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1897117	NM_005861.4(STUB1):c.160-16C>G	STUB1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2861256	NM_005861.4(STUB1):c.160-5C>G	STUB1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2172448	NM_005861.4(STUB1):c.160-4C>T	STUB1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2584742	NM_005861.4(STUB1):c.168C>G (p.Asn56Lys)	STUB1 (N56K)	Single nucleotide variant (5 prime UTR variant +1 more)	Autosomal recessive spinocerebellar ataxia 16	GPathogenic
Select item 1027454	NM_005861.4(STUB1):c.170C>T (p.Pro57Leu)	STUB1 (P57L)	Single nucleotide variant (5 prime UTR variant +1 more)	Spinocerebellar ataxia 48	GLikely pathogenic
Select item 1298642	NM_005861.4(STUB1):c.182T>C (p.Val61Ala)	STUB1 (V61A)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 3171709	NM_005861.4(STUB1):c.193A>G (p.Asn65Asp)	STUB1 (N65D)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 162097	NM_005861.4(STUB1):c.194A>G (p.Asn65Ser)	STUB1 (N65S)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GLikely pathogenic
Select item 1334808	NM_005861.4(STUB1):c.195C>G (p.Asn65Lys)	STUB1 (N65K)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 1027426	NM_005861.4(STUB1):c.199G>A (p.Ala67Thr)	STUB1 (A67T)	Single nucleotide variant (5 prime UTR variant +1 more)	Spinocerebellar ataxia 48	GPathogenic
Select item 2503107	NM_005861.4(STUB1):c.207C>G (p.Cys69Trp)	STUB1 (C69W)	Single nucleotide variant (5 prime UTR variant +1 more)	Autosomal recessive spinocerebellar ataxia 16	GLikely pathogenic
Select item 127149	NM_005861.4(STUB1):c.235G>A (p.Ala79Thr)	STUB1 (A79T +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive spinocerebellar ataxia 16	GPathogenic
Select item 127150	NM_005861.4(STUB1):c.236C>A (p.Ala79Asp)	STUB1 (A79D +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive spinocerebellar ataxia 16	GPathogenic
Select item 2866323	NM_005861.4(STUB1):c.243C>T (p.Ala81=)	STUB1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2722604	NM_005861.4(STUB1):c.298C>T (p.Leu100=)	STUB1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2645845	NM_005861.4(STUB1):c.303G>T (p.Gly101=)	STUB1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 791553	NM_005861.4(STUB1):c.326G>A (p.Ser109Asn)	STUB1 (S37N +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign/Likely benign
Select item 3171710	NM_005861.4(STUB1):c.346A>C (p.Asn116His)	STUB1 (N44H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1175878	NM_005861.4(STUB1):c.346A>G (p.Asn116Asp)	WDR24, STUB1 +2 more (N116D +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive spinocerebellar ataxia 16 +1 more	GUncertain significance
Select item 2144294	NM_005861.4(STUB1):c.347A>G (p.Asn116Ser)	STUB1 (N116S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3022609	NM_005861.4(STUB1):c.359-20G>A	STUB1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1911330	NM_005861.4(STUB1):c.359-20G>C	STUB1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 127147	NM_005861.4(STUB1):c.367C>G (p.Leu123Val)	STUB1 (L123V +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive spinocerebellar ataxia 16	GPathogenic/Likely pathogenic
Select item 3067686	NM_005861.4(STUB1):c.384_387dup (p.Asn130fs)	STUB1 (N130fs +1 more)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 2842367	NM_005861.4(STUB1):c.382C>T (p.Arg128Trp)	STUB1 (R128W +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2013971	NM_005861.4(STUB1):c.384G>C (p.Arg128=)	STUB1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 127144	NM_005861.4(STUB1):c.389A>T (p.Asn130Ile)	STUB1 (N130I +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive spinocerebellar ataxia 16	GPathogenic
Select item 1687361	NM_005861.4(STUB1):c.391T>C (p.Phe131Leu)	STUB1 (F131L +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive spinocerebellar ataxia 16	GUncertain significance
Select item 1943947	NM_005861.4(STUB1):c.393C>T (p.Phe131=)	STUB1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1714472	NM_005861.4(STUB1):c.395G>A (p.Gly132Glu)	STUB1 (G132E +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2064931	NM_005861.4(STUB1):c.402C>T (p.Asp134=)	STUB1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2962135	NM_005861.4(STUB1):c.425C>T (p.Ala142Val)	STUB1 (A70V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1217982	NM_005861.4(STUB1):c.427AAG[2] (p.Lys145del)	STUB1 (K145del +1 more)	Microsatellite (inframe_deletion)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 212325	NM_005861.4(STUB1):c.433A>C (p.Lys145Gln)	STUB1 (K145Q +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 2044735	NM_005861.4(STUB1):c.438C>T (p.Arg146=)	STUB1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1701267	NM_005861.4(STUB1):c.440G>A (p.Trp147Ter)	STUB1 (W147* +1 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 127145	NM_005861.4(STUB1):c.441G>T (p.Trp147Cys)	STUB1 (W147C +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive spinocerebellar ataxia 16	GPathogenic
Select item 2585530	NM_005861.4(STUB1):c.460C>T (p.Arg154Cys)	STUB1 (R82C +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive spinocerebellar ataxia 16	GUncertain significance
Select item 2851771	NM_005861.4(STUB1):c.468C>T (p.His156=)	STUB1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1687153	NM_005861.4(STUB1):c.469C>T (p.Gln157Ter)	STUB1 (Q157* +1 more)	Single nucleotide variant (nonsense)	Autosomal recessive spinocerebellar ataxia 16	GLikely pathogenic
Select item 3067400	NM_005861.4(STUB1):c.477C>T (p.Ser159=)	STUB1	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 127143	NM_005861.4(STUB1):c.493C>T (p.Leu165Phe)	STUB1 (L165F +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive spinocerebellar ataxia 16	GPathogenic

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