23308[Gene ID] - 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 154583	GRCh38/hg38 21q22.2-22.3(chr21:39375937-44246148)x1	AATBC, ABCG1 +268 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 147166	GRCh38/hg38 21q22.3(chr21:44131144-44348695)x3	AIRE, CFAP410 +28 more	Copy number gain	See cases	GLikely benign
Select item 1392572	NM_015259.6(ICOSLG):c.908G>C (p.Ter303Ser)	ICOSLG	Single nucleotide variant (stop lost +1 more)	not provided	GUncertain significance
Select item 2973346	NM_015259.6(ICOSLG):c.903C>T (p.His301=)	ICOSLG	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 1648061	NM_015259.6(ICOSLG):c.899-14A>T	ICOSLG	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1080809	NM_015259.6(ICOSLG):c.899-14A>C	ICOSLG	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1608504	NM_015259.6(ICOSLG):c.899-20T>C	ICOSLG	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3025632	NM_015259.6(ICOSLG):c.898+419C>T	ICOSLG	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2652732	NM_015259.6(ICOSLG):c.898+398G>A	ICOSLG	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2652733	NM_015259.6(ICOSLG):c.898+395C>T	ICOSLG	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2652734	NM_015259.6(ICOSLG):c.898+385G>A	ICOSLG	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2652735	NM_015259.6(ICOSLG):c.898+341C>T	ICOSLG	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2652736	NM_015259.6(ICOSLG):c.898+314C>T	ICOSLG	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2652737	NM_015259.6(ICOSLG):c.898+223G>A	ICOSLG	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2652738	NM_015259.6(ICOSLG):c.898+222C>T	ICOSLG	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2652739	NM_015259.6(ICOSLG):c.898+155C>T	ICOSLG	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1879545	NM_015259.6(ICOSLG):c.898+123T>A	ICOSLG	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1903420	NM_015259.6(ICOSLG):c.898+12G>A	ICOSLG	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1104881	NM_015259.6(ICOSLG):c.898+12del	ICOSLG	Deletion (intron variant)	not provided	GBenign/Likely benign
Select item 1608965	NM_015259.6(ICOSLG):c.894C>T (p.Leu298=)	ICOSLG	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2549705	NM_015259.6(ICOSLG):c.889G>A (p.Glu297Lys)	ICOSLG (E297K +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2984562	NM_015259.6(ICOSLG):c.882G>C (p.Pro294=)	ICOSLG	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1558745	NM_015259.6(ICOSLG):c.881C>T (p.Pro294Leu)	ICOSLG (P177L +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 3006702	NM_015259.6(ICOSLG):c.870G>A (p.Trp290Ter)	ICOSLG (W290* +3 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2020324	NM_015259.6(ICOSLG):c.867C>T (p.Ala289=)	ICOSLG	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1372557	NM_015259.6(ICOSLG):c.866C>T (p.Ala289Val)	ICOSLG (A172V +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2884649	NM_015259.6(ICOSLG):c.865G>A (p.Ala289Thr)	ICOSLG (A172T +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1447404	NM_015259.6(ICOSLG):c.863-2A>G	ICOSLG	Single nucleotide variant (splice acceptor variant)	not provided	GUncertain significance
Select item 1663437	NM_015259.6(ICOSLG):c.863-4C>T	ICOSLG	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1668486	NM_015259.6(ICOSLG):c.863-8T>C	ICOSLG	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1652026	NM_015259.6(ICOSLG):c.862+18T>C	ICOSLG	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1529866	NM_015259.6(ICOSLG):c.862+17A>G	ICOSLG	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2872394	NM_015259.6(ICOSLG):c.862+16T>C	ICOSLG	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2185843	NM_015259.6(ICOSLG):c.862+9G>A	ICOSLG	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1639342	NM_015259.6(ICOSLG):c.862+8C>T	ICOSLG	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2578915	NM_015259.6(ICOSLG):c.862+4G>A	ICOSLG	Single nucleotide variant (intron variant)	not provided	GConflicting classifications of pathogenicity
Select item 2707887	NM_015259.6(ICOSLG):c.853A>G (p.Ser285Gly)	ICOSLG (S258G +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2799349	NM_015259.6(ICOSLG):c.852C>T (p.His284=)	ICOSLG	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1496553	NM_015259.6(ICOSLG):c.843C>A (p.Cys281Ter)	ICOSLG (C164* +3 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 1422430	NM_015259.6(ICOSLG):c.839G>A (p.Arg280Gln)	ICOSLG (R163Q +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1529924	NM_015259.6(ICOSLG):c.837C>T (p.Asp279=)	ICOSLG	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2620461	NM_015259.6(ICOSLG):c.832A>G (p.Arg278Gly)	ICOSLG (R161G +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1967991	NM_015259.6(ICOSLG):c.825G>C (p.Trp275Cys)	ICOSLG (W190C +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1898818	NM_015259.6(ICOSLG):c.815C>T (p.Ala272Val)	ICOSLG (A155V +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1401385	NM_015259.6(ICOSLG):c.810G>A (p.Ala270=)	ICOSLG	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1355207	NM_015259.6(ICOSLG):c.809C>T (p.Ala270Val)	ICOSLG (A185V +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1950839	NM_015259.6(ICOSLG):c.808G>T (p.Ala270Ser)	ICOSLG (A243S +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1402771	NM_015259.6(ICOSLG):c.805G>A (p.Val269Met)	ICOSLG (V184M +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1504857	NM_015259.6(ICOSLG):c.804C>A (p.Val268=)	ICOSLG	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1131298	NM_015259.6(ICOSLG):c.804C>T (p.Val268=)	ICOSLG	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2192550	NM_015259.6(ICOSLG):c.801G>C (p.Val267=)	ICOSLG	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1640101	NM_015259.6(ICOSLG):c.792C>T (p.Cys264=)	ICOSLG	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3107984	NM_015259.6(ICOSLG):c.788T>C (p.Leu263Pro)	ICOSLG (L146P +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2781541	NM_015259.6(ICOSLG):c.783T>C (p.Ala261=)	ICOSLG	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2866238	NM_015259.6(ICOSLG):c.782C>A (p.Ala261Asp)	ICOSLG (A261D +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1554215	NM_015259.6(ICOSLG):c.768G>T (p.Thr256=)	ICOSLG	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1533852	NM_015259.6(ICOSLG):c.768G>A (p.Thr256=)	ICOSLG	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1898164	NM_015259.6(ICOSLG):c.767C>T (p.Thr256Met)	ICOSLG (T229M +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1922263	NM_015259.6(ICOSLG):c.762G>T (p.Ala254=)	ICOSLG	Single nucleotide variant (synonymous variant)	not provided	GLikely benign

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