ClinVar for Gene (Select 4047) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3148842	GRCh37/hg19 21q22.3(chr21:45726806-48093361)x1	POFUT2, PRMT2 +44 more	Copy number loss	not provided	GUncertain significance
Select item 3121365	NM_002340.6(LSS):c.847G>A (p.Asp283Asn)	LSS (D283N +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3121364	NM_002340.6(LSS):c.751G>A (p.Ala251Thr)	LSS (A251T +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3121363	NM_002340.6(LSS):c.686T>A (p.Leu229His)	LSS (L229H +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3121362	NM_002340.6(LSS):c.340G>A (p.Val114Met)	LSS (V34M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3121361	NM_002340.6(LSS):c.2171C>G (p.Pro724Arg)	LSS (P644R +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3121360	NM_002340.6(LSS):c.2066A>C (p.Gln689Pro)	LSS (Q689P +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3121359	NM_002340.6(LSS):c.1793G>A (p.Cys598Tyr)	LSS (C598Y +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3121358	NM_002340.6(LSS):c.1700G>T (p.Cys567Phe)	LSS (C487F +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3121357	NM_002340.6(LSS):c.1609G>A (p.Val537Met)	LSS (V457M +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3121356	NM_002340.6(LSS):c.1565-2del	LSS	Deletion (splice acceptor variant)	Inborn genetic diseases	GLikely pathogenic
Select item 3121354	NM_002340.6(LSS):c.1111A>T (p.Met371Leu)	LSS (M291L +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3067293	NM_002340.6(LSS):c.789C>G (p.Leu263=)	LSS	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3065729	NM_002340.6(LSS):c.1317+1G>T	LSS	Single nucleotide variant (splice donor variant)	Cataract 44	GLikely pathogenic
Select item 3062431	GRCh37/hg19 21q11.2-22.3(chr21:15023401-48097372)x3	ABCG1, ADAMTS1 +216 more	Copy number gain	not specified	GPathogenic
Select item 3062430	GRCh37/hg19 21q22.3(chr21:44577746-48097372)x1	KRTAP10-7, KRTAP10-8 +58 more	Copy number loss	not specified	GPathogenic
Select item 3062429	GRCh37/hg19 21q22.11-22.3(chr21:34092685-48097372)x3	CBR1, CBR3 +139 more	Copy number gain	not specified	GPathogenic
Select item 3062428	GRCh37/hg19 21q22.12-22.3(chr21:35872675-48097372)x1	KCNJ15, KCNJ6 +118 more	Copy number loss	not specified	GPathogenic
Select item 3062427	GRCh37/hg19 21q22.3(chr21:45102309-48097372)x1	DNMT3L, SLX9 +55 more	Copy number loss	not specified	GPathogenic
Select item 3062426	GRCh37/hg19 21q22.3(chr21:43369956-48097372)x1	DNMT3L, PRMT2 +75 more	Copy number loss	not specified	GPathogenic
Select item 3062423	GRCh37/hg19 21q21.3-22.3(chr21:26929299-48097372)x3	COL6A1, COL6A2 +201 more	Copy number gain	not specified	GPathogenic
Select item 3062421	GRCh37/hg19 21q22.3(chr21:43603041-48097372)x1	COL18A1, S100B +72 more	Copy number loss	not specified	GPathogenic
Select item 3062420	GRCh37/hg19 21q21.3-22.3(chr21:30685776-48097372)x3	CBS, ITGB2 +186 more	Copy number gain	not specified	GPathogenic
Select item 3054304	NM_002340.6(LSS):c.-10T>A	LOC130066869, LSS	Single nucleotide variant (5 prime UTR variant)	LSS-related condition	GLikely benign
Select item 3039002	NM_002340.6(LSS):c.1740C>T (p.Ser580=)	LSS	Single nucleotide variant (synonymous variant)	LSS-related condition	GLikely benign
Select item 3033449	NM_002340.6(LSS):c.1988+9G>A	LSS	Single nucleotide variant (intron variant)	LSS-related condition	GLikely benign
Select item 3031482	NM_002340.6(LSS):c.1983C>T (p.Ala661=)	LSS	Single nucleotide variant (synonymous variant)	LSS-related condition	GLikely benign
Select item 3027178	NM_002340.6(LSS):c.1683G>T (p.Thr561=)	LSS	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3026504	NM_002340.6(LSS):c.1758C>T (p.Thr586=)	LSS	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3019961	NM_002340.6(LSS):c.181-15del	LSS	Deletion (intron variant)	not provided	GBenign
Select item 3012396	NM_002340.6(LSS):c.1012-7C>T	LSS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3000234	NM_002340.6(LSS):c.893-14C>G	LSS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2997596	NM_002340.6(LSS):c.303A>G (p.Pro101=)	LSS	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2995795	NM_002340.6(LSS):c.1109+15G>A	LSS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2972956	NM_002340.6(LSS):c.1810C>T (p.Arg604Ter)	LSS (R524* +2 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2972134	NM_002340.6(LSS):c.138C>T (p.Arg46=)	LSS	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2971077	NM_002340.6(LSS):c.647+12G>C	LSS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2965240	NM_002340.6(LSS):c.1012-13G>A	LSS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2963394	NM_002340.6(LSS):c.1988+17C>T	LSS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2959994	NM_002340.6(LSS):c.15-11G>T	LSS	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2904834	NM_002340.6(LSS):c.2148C>T (p.Leu716=)	LSS	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2894049	NM_002340.6(LSS):c.2022C>T (p.Val674=)	LSS	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2873805	NM_002340.6(LSS):c.284C>T (p.Thr95Met)	LSS (T95M +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2873127	NM_002340.6(LSS):c.380T>C (p.Ile127Thr)	LSS (I127T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2861309	NM_002340.6(LSS):c.3G>C (p.Met1Ile)	LOC130066869, LSS (M1I)	Single nucleotide variant (missense variant +2 more)	not provided	GPathogenic
Select item 2861308	NM_002340.6(LSS):c.626A>T (p.Asn209Ile)	LSS (N209I +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 2834841	NM_002340.6(LSS):c.74G>T (p.Trp25Leu)	LOC130066868, LSS (W25L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2806515	NM_002340.6(LSS):c.1428G>A (p.Glu476=)	LSS	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2789208	NM_002340.6(LSS):c.504T>C (p.Pro168=)	LSS	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2722269	NM_002340.6(LSS):c.732C>T (p.Tyr244=)	LSS	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2721060	NM_002340.6(LSS):c.927C>G (p.Ala309=)	LSS	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 2713031	NM_002340.6(LSS):c.2067+7C>T	LSS	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2712995	NM_002340.6(LSS):c.641A>C (p.Glu214Ala)	LSS (E214A +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2695655	NM_002340.6(LSS):c.1990C>T (p.His664Tyr)	LSS (H584Y +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2692477	NM_002340.6(LSS):c.1153C>A (p.Gln385Lys)	LSS (Q305K +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2685664	GRCh37/hg19 21q22.2-22.3(chr21:40681179-48097372)x1	ABCG1, ADARB1 +92 more	Copy number loss	not provided	GPathogenic
Select item 2684917	GRCh37/hg19 21q22.3(chr21:43687354-48097372)x3	ABCG1, ADARB1 +72 more	Copy number gain	not provided	GLikely pathogenic
Select item 2684914	GRCh37/hg19 21q22.11-22.3(chr21:33015681-48097372)x3	ABCG1, ADARB1 +148 more	Copy number gain	not provided	GPathogenic
Select item 2652817	NM_002340.6(LSS):c.36C>G (p.Gly12=)	LOC130066868, LSS	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2652816	NM_002340.6(LSS):c.351C>T (p.Ile117=)	LSS	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2652815	NM_002340.6(LSS):c.978C>T (p.Asp326=)	LSS	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2652814	NM_002340.6(LSS):c.1053C>T (p.Asp351=)	LSS	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2652813	NM_002340.6(LSS):c.1356C>T (p.Ile452=)	LSS	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2652812	NM_002340.6(LSS):c.1455T>C (p.Asp485=)	LSS	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2652811	NM_002340.6(LSS):c.1671-29A>G	LSS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2619602	NM_002340.6(LSS):c.55G>A (p.Ala19Thr)	LOC130066868, LSS (A19T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2617229	NM_002340.6(LSS):c.1168G>A (p.Ala390Thr)	LSS (A310T +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2616857	NM_002340.6(LSS):c.1415C>T (p.Pro472Leu)	LSS (P392L +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2614686	NM_002340.6(LSS):c.739C>T (p.Arg247Trp)	LSS (R247W +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2593050	NM_002340.6(LSS):c.217G>A (p.Ala73Thr)	LSS (A73T)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2561902	NM_002340.6(LSS):c.2044C>T (p.Leu682Phe)	LSS (L602F +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2546654	NM_002340.6(LSS):c.263A>T (p.Gln88Leu)	LSS (Q8L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2542524	NM_002340.6(LSS):c.31G>C (p.Gly11Arg)	LSS (G11R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2536580	NM_002340.6(LSS):c.620G>T (p.Gly207Val)	LSS (G196V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2523900	NM_002340.6(LSS):c.1490A>G (p.Asp497Gly)	LSS (D417G +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2506958	NM_002340.6(LSS):c.831G>C (p.Arg277Ser)	LSS (R197S +2 more)	Single nucleotide variant (missense variant)	Hypotrichosis 14	GUncertain significance
Select item 2506673	NM_002340.6(LSS):c.1196C>T (p.Ala399Val)	LSS (A319V +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2500990	NM_002340.6(LSS):c.1016C>T (p.Ser339Leu)	LSS (S259L +2 more)	Single nucleotide variant (missense variant)	Alopecia-intellectual disability syndrome 4	GPathogenic
Select item 2500989	NM_002340.6(LSS):c.1522G>C (p.Gly508Arg)	LSS (G428R +2 more)	Single nucleotide variant (missense variant)	Alopecia-intellectual disability syndrome 4	GPathogenic
Select item 2487992	NM_002340.6(LSS):c.149G>T (p.Gly50Val)	LSS (G50V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2422361	NC_000021.8:g.(?_43160998)_(47754702_?)del	ABCG1, ADARB1 +74 more	Deletion	Progressive myoclonic epilepsy +1 more	GConflicting classifications of pathogenicity
Select item 2409470	NM_002340.6(LSS):c.838G>A (p.Val280Met)	LSS (V269M +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2395593	NM_002340.6(LSS):c.1637A>G (p.Lys546Arg)	LSS (K466R +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2385894	NM_002340.6(LSS):c.1060G>A (p.Ala354Thr)	LSS (A343T +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2381297	NM_002340.6(LSS):c.386G>A (p.Arg129Gln)	LSS (R49Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2379364	NM_002340.6(LSS):c.908A>T (p.Tyr303Phe)	LSS (Y223F +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2361445	NM_002340.6(LSS):c.740G>A (p.Arg247Gln)	LSS (R236Q +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2352802	NM_002340.6(LSS):c.2051A>G (p.Asn684Ser)	LSS (N604S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2347605	NM_002340.6(LSS):c.1822G>A (p.Ala608Thr)	LSS (A528T +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2335116	NM_002340.6(LSS):c.950A>G (p.Gln317Arg)	LSS (Q237R +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2334719	NM_002340.6(LSS):c.158C>T (p.Ala53Val)	LSS (A53V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2333081	NM_002340.6(LSS):c.1467+6G>A	LSS	Single nucleotide variant (intron variant)	Inborn genetic diseases	GUncertain significance
Select item 2332906	NM_002340.6(LSS):c.416G>A (p.Gly139Asp)	LSS (G139D +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2329793	NM_002340.6(LSS):c.736G>A (p.Val246Ile)	LSS (V246I +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2327030	NM_002340.6(LSS):c.2193C>A (p.His731Gln)	LSS (H651Q +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2318118	NM_002340.6(LSS):c.405G>T (p.Gln135His)	LSS (Q135H +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2295895	NM_002340.6(LSS):c.1003A>G (p.Ile335Val)	LSS (I255V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2283351	NM_002340.6(LSS):c.15-5C>G	LSS	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2273660	NM_002340.6(LSS):c.1383G>C (p.Leu461Phe)	LSS (L381F +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2266096	NM_002340.6(LSS):c.1434C>G (p.Ile478Met)	LSS (I398M +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

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