ITSN1[gene] - 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 149035	GRCh38/hg38 21p11.2-q22.13(chr21:7749532-37653653)x1	KCNJ6, KCNJ6-AS1 +643 more	Copy number loss	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 144194	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-42971047)x3	LOC128849172, LOC129388418 +884 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 1684637	Single allele	ATP5PO, C21orf62 +107 more	Deletion	ZTTK syndrome	GPathogenic
Select item 151383	GRCh38/hg38 21q22.11(chr21:33361172-34048047)x1	ATP5PO, CRYZL1 +41 more	Copy number loss	See cases	GLikely pathogenic
Select item 59003	GRCh38/hg38 21q22.11(chr21:33437186-33767838)x3	CRYZL1, DNAJC28 +16 more	Copy number gain	See cases	GUncertain significance
Select item 59012	GRCh38/hg38 21q22.11(chr21:33465408-33806416)x1	CRYZL1, DNAJC28 +15 more	Copy number loss	See cases	GPathogenic
Select item 1260746	NM_003024.3(ITSN1):c.-32-237G>C	ITSN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2443562	NM_003024.3(ITSN1):c.10T>C (p.Phe4Leu)	ITSN1 (F4L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2689267	NM_003024.3(ITSN1):c.25G>A (p.Gly9Ser)	ITSN1 (G9S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2652630	NM_003024.3(ITSN1):c.69G>A (p.Ala23=)	ITSN1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1280299	NM_003024.3(ITSN1):c.122-29dup	ITSN1	Duplication (intron variant)	not provided	GBenign
Select item 1261875	NM_003024.3(ITSN1):c.122-29del	ITSN1	Deletion (intron variant)	not provided	GBenign
Select item 3373204	NM_003024.3(ITSN1):c.127C>G (p.Gln43Glu)	ITSN1 (Q43E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1711938	NM_003024.3(ITSN1):c.147dup (p.Gln50fs)	ITSN1 (Q50fs)	Duplication (frameshift variant)	not provided	GUncertain significance
Select item 3034830	NM_003024.3(ITSN1):c.189A>G (p.Ala63=)	ITSN1	Single nucleotide variant (synonymous variant)	ITSN1-related disorder	GLikely benign
Select item 2235780	NM_003024.3(ITSN1):c.199A>G (p.Met67Val)	ITSN1 (M67V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3111980	NM_003024.3(ITSN1):c.244A>G (p.Met82Val)	ITSN1 (M82V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3370152	NM_003024.3(ITSN1):c.272G>T (p.Gly91Val)	ITSN1 (G91V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3038709	NM_003024.3(ITSN1):c.297C>G (p.Pro99=)	ITSN1	Single nucleotide variant (synonymous variant)	ITSN1-related disorder	GLikely benign
Select item 2516561	NM_003024.3(ITSN1):c.298C>T (p.Pro100Ser)	ITSN1 (P100S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1339234	NM_003024.3(ITSN1):c.356G>A (p.Gly119Asp)	ITSN1 (G119D)	Single nucleotide variant (missense variant +1 more)	Nephrotic syndrome	GUncertain significance
Select item 2526916	NM_003024.3(ITSN1):c.382G>T (p.Ala128Ser)	ITSN1 (A128S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1801885	NM_003024.3(ITSN1):c.398C>A (p.Pro133Gln)	ITSN1 (P133Q)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2537731	NM_003024.3(ITSN1):c.439G>T (p.Val147Leu)	ITSN1 (V147L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 786371	NM_003024.3(ITSN1):c.450T>C (p.Val150=)	ITSN1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2489324	NM_003024.3(ITSN1):c.466C>T (p.Pro156Ser)	ITSN1 (P119S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3111988	NM_003024.3(ITSN1):c.469C>T (p.Pro157Ser)	ITSN1 (P120S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 1708060	NM_003024.3(ITSN1):c.473del (p.Leu158fs)	ITSN1 (L121fs +1 more)	Deletion (frameshift variant)	Autistic behavior	GPathogenic
Select item 1222184	NM_003024.3(ITSN1):c.526+98A>G	ITSN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3366039	NM_003024.3(ITSN1):c.616G>A (p.Val206Met)	ITSN1 (V169M +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3252367	NM_003024.3(ITSN1):c.622A>G (p.Ser208Gly)	ITSN1 (S171G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1275242	NM_003024.3(ITSN1):c.623+42A>G	ITSN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1244328	NM_003024.3(ITSN1):c.624-242A>G	ITSN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3043413	NM_003024.3(ITSN1):c.624-7C>G	ITSN1	Single nucleotide variant (intron variant)	ITSN1-related disorder	GLikely benign
Select item 3348430	NM_003024.3(ITSN1):c.653del (p.Pro218fs)	ITSN1 (P181fs +1 more)	Deletion (frameshift variant)	ITSN1-related disorder	GUncertain significance
Select item 872807	NM_003024.3(ITSN1):c.723A>G (p.Thr241=)	ITSN1	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 1237483	NM_003024.3(ITSN1):c.724+33C>A	ITSN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1222077	NM_003024.3(ITSN1):c.725-140dup	ITSN1	Duplication (intron variant)	not provided	GBenign
Select item 1960283	NM_003024.3(ITSN1):c.725-1G>A	ITSN1	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 3343083	NM_003024.3(ITSN1):c.761T>C (p.Leu254Ser)	ITSN1 (L217S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1269965	NM_003024.3(ITSN1):c.788+131T>C	ITSN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 783878	NM_003024.3(ITSN1):c.789-5A>G	ITSN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1209863	NM_003024.3(ITSN1):c.789-2A>G	ITSN1	Single nucleotide variant (splice acceptor variant)	Autistic behavior	GUncertain significance
Select item 2172497	NM_003024.3(ITSN1):c.809A>G (p.Gln270Arg)	ITSN1 (Q270R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3044204	NM_003024.3(ITSN1):c.813T>C (p.Asp271=)	ITSN1	Single nucleotide variant (synonymous variant)	ITSN1-related disorder	GLikely benign
Select item 3025504	NM_003024.3(ITSN1):c.816A>G (p.Gly272=)	ITSN1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3111992	NM_003024.3(ITSN1):c.875G>A (p.Gly292Asp)	ITSN1 (G255D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2689268	NM_003024.3(ITSN1):c.908A>G (p.Tyr303Cys)	ITSN1 (Y266C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1278777	NM_003024.3(ITSN1):c.926+10A>G	ITSN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 786975	NM_003024.3(ITSN1):c.927-10G>A	ITSN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3033288	NM_003024.3(ITSN1):c.963C>T (p.Ser321=)	ITSN1	Single nucleotide variant (synonymous variant)	ITSN1-related disorder	GLikely benign
Select item 2632053	NM_003024.3(ITSN1):c.973G>A (p.Val325Ile)	ITSN1 (V288I +1 more)	Single nucleotide variant (missense variant)	ITSN1-related disorder	GUncertain significance
Select item 3365320	NM_003024.3(ITSN1):c.1006G>C (p.Glu336Gln)	ITSN1 (E299Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3030407	NM_003024.3(ITSN1):c.1015CAA[2] (p.Gln341del)	ITSN1 (Q304del +1 more)	Microsatellite	ITSN1-related disorder	GUncertain significance
Select item 3111966	NM_003024.3(ITSN1):c.1040C>T (p.Pro347Leu)	ITSN1 (P310L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2652631	NM_003024.3(ITSN1):c.1043-18T>C	ITSN1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3111967	NM_003024.3(ITSN1):c.1079G>A (p.Arg360His)	ITSN1 (R323H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3340324	NM_003024.3(ITSN1):c.1102C>T (p.Arg368Ter)	ITSN1 (R331* +1 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1810522	NM_003024.3(ITSN1):c.1102C>G (p.Arg368Gly)	ITSN1 (R368G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3370759	NM_003024.3(ITSN1):c.1103G>A (p.Arg368Gln)	ITSN1 (R331Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3111968	NM_003024.3(ITSN1):c.1163G>A (p.Arg388Gln)	ITSN1 (R388Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3111969	NM_003024.3(ITSN1):c.1166C>T (p.Ala389Val)	ITSN1 (A352V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1992060	NM_003024.3(ITSN1):c.1202A>G (p.Gln401Arg)	ITSN1 (Q401R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 560294	NM_003024.3(ITSN1):c.1222G>T (p.Glu408Ter)	ITSN1 (E408* +1 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 1804292	NM_003024.3(ITSN1):c.1254G>T (p.Glu418Asp)	ITSN1 (E381D +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1209866	NM_003024.3(ITSN1):c.1258G>T (p.Glu420Ter)	ITSN1 (E383* +1 more)	Single nucleotide variant (nonsense)	Autistic behavior	GUncertain significance
Select item 2470625	NM_003024.3(ITSN1):c.1274A>C (p.Glu425Ala)	ITSN1 (E388A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3348740	NM_003024.3(ITSN1):c.1300_1305+1dup	ITSN1	Duplication (splice donor variant)	ITSN1-related disorder	GUncertain significance
Select item 2444643	NM_003024.3(ITSN1):c.1355A>G (p.Asn452Ser)	ITSN1 (N415S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3372330	NM_003024.3(ITSN1):c.1373T>C (p.Leu458Pro)	ITSN1 (L421P +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3031928	NM_003024.3(ITSN1):c.1374A>G (p.Leu458=)	ITSN1	Single nucleotide variant (synonymous variant)	ITSN1-related disorder	GLikely benign
Select item 1209867	NM_003024.3(ITSN1):c.1389_1392del (p.Lys463fs)	ITSN1 (K426fs +1 more)	Deletion (frameshift variant)	Autistic behavior	GUncertain significance
Select item 3036520	NM_003024.3(ITSN1):c.1455+8A>C	ITSN1	Single nucleotide variant (intron variant)	ITSN1-related disorder	GLikely benign

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