104[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 160886	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670405)x3	LCA5L, LINC00111 +1159 more	Copy number gain	See cases	GPathogenic
Select item 155309	GRCh38/hg38 21q11.2-22.3(chr21:7749532-46677460)x3	LOC126653353, LOC126653354 +1160 more	Copy number gain	See cases	GPathogenic
Select item 155093	GRCh38/hg38 21q11.2-22.3(chr21:7749532-46677460)	KRTAP8-1, LCA5L +1160 more	Copy number gain	See cases	GPathogenic
Select item 155053	GRCh38/hg38 21q11.2-22.3(chr21:7749532-46677460)x3	RNA5-8SN1, RNA5-8SN2 +1160 more	Copy number gain	See cases	GPathogenic
Select item 153438	GRCh38/hg38 21q21.3-22.3(chr21:7749532-46677460)x3	LOC130066804, LOC130066805 +1160 more	Copy number gain	See cases	GUncertain significance
Select item 152839	GRCh38/hg38 21q11.2-22.3(chr21:7749532-46698247)x3	AATBC, ABCG1 +1160 more	Copy number gain	See cases	GPathogenic
Select item 151388	GRCh38/hg38 21q11.2-22.3(chr21:7749532-46670346)x3	SCAF4, SETD4 +1159 more	Copy number gain	See cases	GPathogenic
Select item 149418	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46671060)x3	LOC126653353, LOC126653354 +1159 more	Copy number gain	See cases	GPathogenic
Select item 149160	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46671060)x3	LOC129388418, LOC129391214 +1160 more	Copy number gain	See cases	GPathogenic
Select item 148262	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46671060)x3	AATBC, ABCG1 +1160 more	Copy number gain	See cases	GPathogenic
Select item 148180	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46671060)x3	AATBC, ABCG1 +1159 more	Copy number gain	See cases	GPathogenic
Select item 146125	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46660999)x3	AATBC, ABCG1 +1157 more	Copy number gain	See cases	GPathogenic
Select item 145984	GRCh38/hg38 21q22.11-22.3(chr21:7749532-46670346)x3	AATBC, ABCG1 +1159 more	Copy number gain	See cases	GPathogenic
Select item 145474	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670440)x3	LINC00515, LINC00649 +1159 more	Copy number gain	See cases	GPathogenic
Select item 145468	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46664250)x3	LOC130066731, LOC130066732 +1159 more	Copy number gain	See cases	GPathogenic
Select item 145332	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46653084)x3	AATBC, ABCG1 +1157 more	Copy number gain	See cases	GPathogenic
Select item 145107	GRCh38/hg38 21q11.2-22.3(chr21:7749532-46649831)x3	ETS2-AS1, EVA1C +1157 more	Copy number gain	See cases	GPathogenic
Select item 144677	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670440)x3	LOC130066726, LOC130066727 +1159 more	Copy number gain	See cases	GPathogenic
Select item 59247	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670405)x3	AATBC, ABCG1 +1159 more	Copy number gain	See cases	GPathogenic
Select item 59246	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670405)x3	SLC5A3, SLX9 +1159 more	Copy number gain	See cases	GPathogenic
Select item 59245	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46661140)x3	LINC01425, LINC01426 +1157 more	Copy number gain	See cases	GPathogenic
Select item 59224	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46623792)x3	LOC130066861, LOC130066862 +1155 more	Copy number gain	See cases	GPathogenic
Select item 59223	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46623792)x3	LOC130066468, LOC130066469 +1155 more	Copy number gain	See cases	GPathogenic
Select item 59222	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46653090)x3	AATBC, ABCG1 +1157 more	Copy number gain	See cases	GPathogenic
Select item 59221	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46623792)x3	AATBC, ABCG1 +1155 more	Copy number gain	See cases	GPathogenic
Select item 32099	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670405)x3	LOC112694754, LOC114004360 +1159 more	Copy number gain	See cases	GPathogenic
Select item 154360	GRCh38/hg38 21p11.2-q22.3(chr21:7817158-46670440)x1	LOC130066795, LOC130066796 +1156 more	Copy number loss	See cases	GPathogenic
Select item 147667	GRCh38/hg38 21q22.12-22.3(chr21:34789953-46636538)x1	LINC01424, LINC01436 +643 more	Copy number loss	See cases	GPathogenic
Select item 149106	GRCh38/hg38 21q22.12-22.3(chr21:36066991-46671060)x3	AATBC, ABCG1 +598 more	Copy number gain	See cases	GPathogenic
Select item 145644	GRCh38/hg38 21q22.12-22.3(chr21:36206067-46670405)x3	LOC130066759, LOC130066760 +586 more	Copy number gain	See cases	GPathogenic
Select item 146921	GRCh38/hg38 21q22.13-22.3(chr21:36519173-46670405)x3	AATBC, ABCG1 +568 more	Copy number gain	See cases	GPathogenic
Select item 149036	GRCh38/hg38 21q22.13-22.3(chr21:37669628-46671060)x1	AATBC, ABCG1 +516 more	Copy number loss	See cases	GPathogenic
Select item 154214	GRCh38/hg38 21q22.2-22.3(chr21:38816399-46677460)x1	AATBC, ABCG1 +482 more	Copy number loss	See cases	GPathogenic
Select item 150275	GRCh38/hg38 21q22.2-22.3(chr21:40296025-46670440)x1	AATBC, ABCG1 +429 more	Copy number loss	See cases	GPathogenic
Select item 57337	GRCh38/hg38 21q22.3(chr21:41285201-46670405)x1	BNAT1, C21orf58 +416 more	Copy number loss	See cases	GPathogenic
Select item 148266	GRCh38/hg38 21q22.3(chr21:41733640-46671060)x1	AATBC, ABCG1 +376 more	Copy number loss	See cases	GPathogenic
Select item 155268	GRCh38/hg38 21q22.3(chr21:42129699-46671060)x1	LOC130066735, LOC130066736 +340 more	Copy number loss	See cases	GPathogenic
Select item 57115	GRCh38/hg38 21q22.3(chr21:42232926-46670405)x1	LOC130066806, LOC130066807 +334 more	Copy number loss	See cases	GPathogenic
Select item 154533	GRCh38/hg38 21q22.3(chr21:42913213-46670405)x1	AATBC, ADARB1 +276 more	Copy number loss	See cases	GPathogenic
Select item 144193	GRCh38/hg38 21q22.3(chr21:43071168-46670405)x1	AATBC, ADARB1 +268 more	Copy number loss	See cases	GPathogenic
Select item 545245	Single allele	KRTAP10-12, KRTAP10-2 +245 more	Duplication	Autism	GLikely pathogenic
Select item 154064	GRCh38/hg38 21q22.3(chr21:44516679-45409275)x1	ADARB1, BNAT1 +69 more	Copy number loss	See cases	GUncertain significance
Select item 150020	GRCh38/hg38 21q22.3(chr21:44576109-45204790)x3	LOC125418085, LOC126653399 +50 more	Copy number gain	See cases	GUncertain significance
Select item 59035	GRCh38/hg38 21q22.3(chr21:45084236-45991858)x3	ADARB1, BNAT1 +46 more	Copy number gain	See cases	GUncertain significance
Select item 59046	GRCh38/hg38 21q22.3(chr21:45110477-46648012)x1	ADARB1, BNAT1 +89 more	Copy number loss	See cases	GPathogenic
Select item 2652783	NM_001112.4(ADARB1):c.-48+6170C>G	ADARB1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 59068	GRCh38/hg38 21q22.3(chr21:45138321-46670405)x1	ADARB1, BNAT1 +89 more	Copy number loss	See cases	GPathogenic
Select item 150671	GRCh38/hg38 21q22.3(chr21:45165766-45411930)x3	ADARB1, BNAT1 +12 more	Copy number gain	See cases	GLikely benign
Select item 2463880	NM_001112.4(ADARB1):c.59G>A (p.Arg20His)	ADARB1 (R20H +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3268735	NM_001112.4(ADARB1):c.134G>A (p.Gly45Asp)	ADARB1 (G45D +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1803325	NM_001112.4(ADARB1):c.139G>C (p.Gly47Arg)	ADARB1 (G47R +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2438868	NM_001112.4(ADARB1):c.196C>T (p.Arg66Cys)	ADARB1 (R115C +1 more)	Single nucleotide variant (missense variant +1 more)	Neurodevelopmental disorder with hypotonia, microcephaly, and seizures	GUncertain significance
Select item 2290512	NM_001112.4(ADARB1):c.233T>G (p.Leu78Arg)	ADARB1 (L78R +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 786691	NM_001112.4(ADARB1):c.309C>T (p.Pro103=)	ADARB1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 870451	NM_001112.4(ADARB1):c.379A>G (p.Lys127Glu)	ADARB1 (K127E +1 more)	Single nucleotide variant (missense variant +1 more)	Neurodevelopmental disorder with hypotonia, microcephaly, and seizures	GPathogenic
Select item 2431514	NM_001112.4(ADARB1):c.409_411del (p.Lys137del)	ADARB1 (K137del +1 more)	Deletion (inframe_deletion +2 more)	Neurodevelopmental disorder with hypotonia, microcephaly, and seizures	GUncertain significance
Select item 1675873	NM_001112.4(ADARB1):c.456C>T (p.His152=)	ADARB1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 707858	NM_001112.4(ADARB1):c.486C>T (p.Asn162=)	ADARB1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2388723	NM_001112.4(ADARB1):c.488C>G (p.Thr163Arg)	ADARB1 (T163R +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2592165	NM_001112.4(ADARB1):c.524C>T (p.Thr175Met)	ADARB1 (T175M +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3080274	NM_001112.4(ADARB1):c.610G>T (p.Gly204Trp)	ADARB1 (G253W +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2438867	NM_001112.4(ADARB1):c.713T>C (p.Met238Thr)	ADARB1 (M238T +1 more)	Single nucleotide variant (missense variant +1 more)	Neurodevelopmental disorder with hypotonia, microcephaly, and seizures	GUncertain significance
Select item 2652784	NM_001112.4(ADARB1):c.723C>T (p.Asn241=)	ADARB1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3268741	NM_001112.4(ADARB1):c.724G>A (p.Glu242Lys)	ADARB1 (E242K +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2505263	NM_001112.4(ADARB1):c.730C>G (p.Arg244Gly)	ADARB1 (R244G +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3268752	NM_001112.4(ADARB1):c.731G>A (p.Arg244His)	ADARB1 (R293H +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2652785	NM_001112.4(ADARB1):c.759C>T (p.Ser253=)	ADARB1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2496227	NM_001112.4(ADARB1):c.766G>A (p.Gly256Arg)	ADARB1 (G305R +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3341324	NM_001112.4(ADARB1):c.827G>T (p.Gly276Val)	ADARB1 (G276V +1 more)	Single nucleotide variant (missense variant +1 more)	Neurodevelopmental disorder with hypotonia, microcephaly, and seizures	GUncertain significance
Select item 2549651	NM_001112.4(ADARB1):c.830C>T (p.Ser277Leu)	ADARB1 (S277L +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2652786	NM_001112.4(ADARB1):c.843G>A (p.Lys281=)	ADARB1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2278963	NM_001112.4(ADARB1):c.985C>T (p.Arg329Cys)	ADARB1 (R329C +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2652787	NM_001112.4(ADARB1):c.1074A>G (p.Thr358=)	ADARB1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2220990	NM_001112.4(ADARB1):c.1079-5_1079-4dup	ADARB1	Duplication (intron variant)	Inborn genetic diseases	GUncertain significance
Select item 3060780	NM_001112.4(ADARB1):c.1079-4del	ADARB1	Deletion (intron variant)	ADARB1-related disorder	GLikely benign
Select item 870449	NM_001112.4(ADARB1):c.1101G>C (p.Lys367Asn)	ADARB1 (K367N +1 more)	Single nucleotide variant (missense variant +1 more)	Syndromic intellectual disability	GUncertain significance
Select item 2606467	NM_001112.4(ADARB1):c.1102G>T (p.Val368Leu)	ADARB1 (V368L +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3268758	NM_001112.4(ADARB1):c.1178G>C (p.Cys393Ser)	ADARB1 (C442S +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3268738	NM_001112.4(ADARB1):c.1204T>G (p.Ser402Ala)	ADARB1 (S451A +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2443915	NM_001112.4(ADARB1):c.1245_1247+1del	ADARB1	Deletion (splice donor variant)	Neurodevelopmental disorder with hypotonia, microcephaly, and seizures	GPathogenic
Select item 2357646	NM_001112.4(ADARB1):c.1253A>G (p.Lys418Arg)	ADARB1 (K418R +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3268745	NM_001112.4(ADARB1):c.1273A>G (p.Ile425Val)	ADARB1 (I425V +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 983120	NM_001112.4(ADARB1):c.1299dup (p.Phe434fs)	ADARB1 (F434fs +1 more)	Duplication (frameshift variant +1 more)	Neurodevelopmental disorder with hypotonia, microcephaly, and seizures	GUncertain significance
Select item 977164	NM_001112.4(ADARB1):c.1397-354A>G	ADARB1 (T498A +1 more)	Single nucleotide variant (missense variant +2 more)	Syndromic intellectual disability +1 more	GUncertain significance
Select item 2480838	NM_001112.4(ADARB1):c.1457C>T (p.Ser486Phe)	ADARB1 (S526F +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2367798	NM_001112.4(ADARB1):c.1481G>A (p.Arg494His)	ADARB1 (R583H +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 870450	NM_001112.4(ADARB1):c.1492A>G (p.Ser498Gly)	ADARB1 (S538G +2 more)	Single nucleotide variant (missense variant +1 more)	Neurodevelopmental disorder with hypotonia, microcephaly, and seizures	GPathogenic
Select item 2300221	NM_001112.4(ADARB1):c.1564C>T (p.Arg522Cys)	ADARB1 (R562C +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2431949	NM_001112.4(ADARB1):c.1573G>A (p.Val525Met)	ADARB1 (V169M +4 more)	Single nucleotide variant (missense variant +1 more)	Neurodevelopmental disorder with hypotonia, microcephaly, and seizures	GUncertain significance
Select item 218725	NM_001112.4(ADARB1):c.1582A>G (p.Ile528Val)	ADARB1 (I568V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 3370262	NM_001112.4(ADARB1):c.1628C>T (p.Ser543Leu)	ADARB1 (S543L +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3239028	NM_001112.4(ADARB1):c.1656C>T (p.His552=)	ADARB1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2305741	NM_001112.4(ADARB1):c.1657G>A (p.Gly553Arg)	ADARB1 (G553R +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 870452	NM_001112.4(ADARB1):c.1688G>A (p.Arg563Gln)	ADARB1 (R603Q +2 more)	Single nucleotide variant (missense variant +1 more)	Neurodevelopmental disorder with hypotonia, microcephaly, and seizures	GPathogenic
Select item 2652788	NM_001112.4(ADARB1):c.1719C>G (p.Leu573=)	ADARB1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2443914	NM_001112.4(ADARB1):c.1769G>A (p.Arg590Gln)	ADARB1 (R630Q +4 more)	Single nucleotide variant (missense variant +1 more)	Neurodevelopmental disorder with hypotonia, microcephaly, and seizures	GPathogenic
Select item 2323716	NM_001112.4(ADARB1):c.1822G>A (p.Ala608Thr)	ADARB1 (A252T +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2210520	NM_001112.4(ADARB1):c.1825A>G (p.Ile609Val)	ADARB1 (I609V +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3371900	NM_001112.4(ADARB1):c.1827del (p.Ile609fs)	ADARB1 (I609fs +3 more)	Deletion (frameshift variant +1 more)	not provided	GUncertain significance
Select item 3340382	NM_001112.4(ADARB1):c.1847C>A (p.Thr616Asn)	ADARB1 (T616N +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance

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