2529[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 151263	GRCh38/hg38 11p15.5-15.4(chr11:61793-10727969)x3	DENND5A, DNHD1 +723 more	Copy number gain	See cases	GPathogenic
Select item 154856	GRCh38/hg38 11p15.5(chr11:196855-2116185)x3	ANO9, AP2A2 +204 more	Copy number gain	See cases	GPathogenic
Select item 154823	GRCh38/hg38 11p15.5-15.4(chr11:196855-5321874)x3	A-GAMMA3'E, ANO9 +388 more	Copy number gain	See cases	GPathogenic
Select item 57274	GRCh38/hg38 11p15.5-15.4(chr11:196966-3377077)x3	ANO9, AP2A2 +271 more	Copy number gain	See cases	GPathogenic
Select item 57258	GRCh38/hg38 11p15.5-15.4(chr11:196966-4435344)x3	LOC130005164, LOC130005165 +332 more	Copy number gain	See cases	GPathogenic
Select item 59748	GRCh38/hg38 11p15.5-15.4(chr11:218365-3377077)x3	ANO9, AP2A2 +266 more	Copy number gain	See cases	GPathogenic
Select item 144515	GRCh38/hg38 11p15.5-15.1(chr11:446754-18904742)x3	TRIM22, TRIM3 +917 more	Copy number gain	See cases	GPathogenic
Select item 14445	NC_000011.10:g.(499700_4999400)_(5279346_5279697)del	ASCL2, BGLT3 +328 more	Deletion	Thalassemia, gamma-delta-beta	GPathogenic
Select item 58855	GRCh38/hg38 11p15.5(chr11:758848-1998025)x1	AP2A2, BRSK2 +115 more	Copy number loss	See cases	GPathogenic
Select item 154397	GRCh38/hg38 11p15.5-15.4(chr11:1132899-3213923)x1	ASCL2, BRSK2 +129 more	Copy number loss	See cases	GPathogenic
Select item 147689	GRCh38/hg38 11p15.5-15.4(chr11:1537379-3360769)x3	C11orf21, CARS1 +115 more	Copy number gain	See cases	GPathogenic
Select item 303819	NM_001909.5(CTSD):c.*736C>G	CTSD	Single nucleotide variant (3 prime UTR variant)	Neuronal ceroid lipofuscinosis 10	GUncertain significance
Select item 303820	NM_001909.5(CTSD):c.*694G>A	CTSD	Single nucleotide variant (3 prime UTR variant)	Neuronal ceroid lipofuscinosis 10	GUncertain significance
Select item 303821	NM_001909.5(CTSD):c.*654C>T	CTSD	Single nucleotide variant (3 prime UTR variant)	Neuronal ceroid lipofuscinosis 10	GUncertain significance
Select item 877618	NM_001909.5(CTSD):c.*651C>T	CTSD	Single nucleotide variant (3 prime UTR variant)	Neuronal ceroid lipofuscinosis 10	GUncertain significance
Select item 303822	NM_001909.5(CTSD):c.*597A>C	CTSD	Single nucleotide variant (3 prime UTR variant)	Neuronal ceroid lipofuscinosis 10 +1 more	GBenign
Select item 303823	NM_001909.5(CTSD):c.*574C>T	CTSD	Single nucleotide variant (3 prime UTR variant)	Neuronal ceroid lipofuscinosis 10	GUncertain significance
Select item 877619	NM_001909.5(CTSD):c.*555C>A	CTSD	Single nucleotide variant (3 prime UTR variant)	Neuronal ceroid lipofuscinosis 10	GUncertain significance
Select item 877620	NM_001909.5(CTSD):c.*509C>T	CTSD	Single nucleotide variant (3 prime UTR variant)	Neuronal ceroid lipofuscinosis 10	GUncertain significance
Select item 877621	NM_001909.5(CTSD):c.*494C>T	CTSD	Single nucleotide variant (3 prime UTR variant)	Neuronal ceroid lipofuscinosis 10	GUncertain significance
Select item 303824	NM_001909.5(CTSD):c.*403C>T	CTSD	Single nucleotide variant (3 prime UTR variant)	Neuronal ceroid lipofuscinosis 10	GUncertain significance
Select item 878633	NM_001909.5(CTSD):c.*398G>A	CTSD	Single nucleotide variant (3 prime UTR variant)	Neuronal ceroid lipofuscinosis 10	GUncertain significance
Select item 878634	NM_001909.5(CTSD):c.*390G>A	CTSD	Single nucleotide variant (3 prime UTR variant)	Neuronal ceroid lipofuscinosis 10	GUncertain significance
Select item 878635	NM_001909.5(CTSD):c.*375A>G	CTSD	Single nucleotide variant (3 prime UTR variant)	Neuronal ceroid lipofuscinosis 10	GUncertain significance
Select item 303825	NM_001909.5(CTSD):c.*358C>T	CTSD	Single nucleotide variant (3 prime UTR variant)	Neuronal ceroid lipofuscinosis 10	GUncertain significance
Select item 303826	NM_001909.5(CTSD):c.*356C>G	CTSD	Single nucleotide variant (3 prime UTR variant)	Neuronal ceroid lipofuscinosis 10	GUncertain significance
Select item 303827	NM_001909.5(CTSD):c.*342C>T	CTSD	Single nucleotide variant (3 prime UTR variant)	Neuronal ceroid lipofuscinosis 10	GUncertain significance
Select item 878636	NM_001909.5(CTSD):c.*330G>T	CTSD	Single nucleotide variant (3 prime UTR variant)	Neuronal ceroid lipofuscinosis 10	GUncertain significance
Select item 303828	NM_001909.5(CTSD):c.*300G>A	CTSD	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 1214400	NM_001909.5(CTSD):c.*288G>A	CTSD	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 1200404	NM_001909.5(CTSD):c.*207TC[2]	CTSD	Microsatellite (3 prime UTR variant)	not provided	GLikely benign
Select item 879230	NM_001909.5(CTSD):c.*210C>G	CTSD	Single nucleotide variant (3 prime UTR variant)	Neuronal ceroid lipofuscinosis 10 +1 more	GUncertain significance
Select item 879231	NM_001909.5(CTSD):c.*200C>G	CTSD	Single nucleotide variant (3 prime UTR variant)	Neuronal ceroid lipofuscinosis 10	GUncertain significance
Select item 303829	NM_001909.5(CTSD):c.*140G>T	CTSD	Single nucleotide variant (3 prime UTR variant)	Neuronal ceroid lipofuscinosis 10	GLikely benign
Select item 879232	NM_001909.5(CTSD):c.*133G>A	CTSD	Single nucleotide variant (3 prime UTR variant)	Neuronal ceroid lipofuscinosis 10	GUncertain significance
Select item 879233	NM_001909.5(CTSD):c.*130G>A	CTSD	Single nucleotide variant (3 prime UTR variant)	Neuronal ceroid lipofuscinosis 10	GUncertain significance
Select item 303830	NM_001909.5(CTSD):c.*117C>T	CTSD	Single nucleotide variant (3 prime UTR variant)	Neuronal ceroid lipofuscinosis 10	GUncertain significance
Select item 879234	NM_001909.5(CTSD):c.*98G>A	CTSD	Single nucleotide variant (3 prime UTR variant)	Neuronal ceroid lipofuscinosis 10	GUncertain significance
Select item 303831	NM_001909.5(CTSD):c.*67A>G	CTSD	Single nucleotide variant (3 prime UTR variant)	Neuronal ceroid lipofuscinosis 10 +2 more	GBenign
Select item 303832	NM_001909.5(CTSD):c.*58C>T	CTSD	Single nucleotide variant (3 prime UTR variant)	Neuronal ceroid lipofuscinosis 10	GUncertain significance
Select item 137046	NM_001909.5(CTSD):c.*19G>A	CTSD	Single nucleotide variant (3 prime UTR variant)	Neuronal ceroid lipofuscinosis 10 +2 more	GBenign
Select item 388189	NM_001909.5(CTSD):c.*17G>A	CTSD	Single nucleotide variant (3 prime UTR variant)	not specified	GLikely benign
Select item 379318	NM_001909.5(CTSD):c.*15G>A	CTSD	Single nucleotide variant (3 prime UTR variant)	not specified	GLikely benign
Select item 377763	NM_001909.5(CTSD):c.*14C>T	CTSD	Single nucleotide variant (3 prime UTR variant)	not specified	GLikely benign
Select item 205333	NM_001909.5(CTSD):c.*11G>A	CTSD	Single nucleotide variant (3 prime UTR variant)	not specified	GLikely benign
Select item 377762	NM_001909.5(CTSD):c.*10C>T	CTSD	Single nucleotide variant (3 prime UTR variant)	not specified	GLikely benign
Select item 382634	NM_001909.5(CTSD):c.*4C>G	CTSD	Single nucleotide variant (3 prime UTR variant)	not specified	GLikely benign
Select item 2780619	NM_001909.5(CTSD):c.1239G>A (p.Ter413=)	CTSD	Single nucleotide variant (synonymous variant)	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 2727655	NM_001909.5(CTSD):c.1236C>T (p.Leu412=)	CTSD	Single nucleotide variant (synonymous variant)	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 588338	NM_001909.5(CTSD):c.1236C>G (p.Leu412=)	CTSD	Single nucleotide variant (synonymous variant)	Neuronal ceroid lipofuscinosis +1 more	GLikely benign
Select item 527754	NM_001909.5(CTSD):c.1235T>G (p.Leu412Arg)	CTSD (L412R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1923607	NM_001909.5(CTSD):c.1234C>T (p.Leu412Phe)	CTSD (L412F)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis	GUncertain significance
Select item 859061	NM_001909.5(CTSD):c.1232G>A (p.Arg411His)	CTSD (R411H)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis +2 more	GUncertain significance
Select item 1018084	NM_001909.5(CTSD):c.1231C>T (p.Arg411Cys)	CTSD (R411C)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 390033	NM_001909.5(CTSD):c.1230C>T (p.Ala410=)	CTSD	Single nucleotide variant (synonymous variant)	not specified +2 more	GLikely benign
Select item 1016374	NM_001909.5(CTSD):c.1229C>G (p.Ala410Gly)	CTSD (A410G)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis	GUncertain significance
Select item 962449	NM_001909.5(CTSD):c.1228G>C (p.Ala410Pro)	CTSD (A410P)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis	GUncertain significance
Select item 880423	NM_001909.5(CTSD):c.1222G>A (p.Glu408Lys)	CTSD (E408K)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis 10 +1 more	GUncertain significance
Select item 457957	NM_001909.5(CTSD):c.1221C>T (p.Ala407=)	CTSD	Single nucleotide variant (synonymous variant)	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 2165208	NM_001909.5(CTSD):c.1218C>T (p.Phe406=)	CTSD	Single nucleotide variant (synonymous variant)	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 128872	NM_001909.5(CTSD):c.1215C>A (p.Gly405=)	CTSD	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +4 more	GBenign
Select item 1962611	NM_001909.5(CTSD):c.1213G>A (p.Gly405Ser)	CTSD (G405S)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis	GUncertain significance
Select item 205347	NM_001909.5(CTSD):c.1211T>G (p.Val404Gly)	CTSD (V404G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 432632	NM_001909.5(CTSD):c.1210G>T (p.Val404Leu)	CTSD (V404L)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis +1 more	GUncertain significance
Select item 1590387	NM_001909.5(CTSD):c.1209G>A (p.Arg403=)	CTSD	Single nucleotide variant (synonymous variant)	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 409623	NM_001909.5(CTSD):c.1208G>C (p.Arg403Thr)	CTSD (R403T)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1369662	NM_001909.5(CTSD):c.1199ACA[2] (p.Asn402del)	CTSD (N402del)	Microsatellite (inframe_deletion)	Neuronal ceroid lipofuscinosis	GUncertain significance
Select item 2161434	NM_001909.5(CTSD):c.1206C>T (p.Asn402=)	CTSD	Single nucleotide variant (synonymous variant)	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 1918883	NM_001909.5(CTSD):c.1204A>G (p.Asn402Asp)	CTSD (N402D)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis	GUncertain significance
Select item 205346	NM_001909.5(CTSD):c.1202A>G (p.Asn401Ser)	CTSD (N401S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 208849	NM_001909.5(CTSD):c.1196G>A (p.Arg399His)	CTSD (R399H)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis	GUncertain significance
Select item 2818599	NM_001909.5(CTSD):c.1194C>T (p.Asp398=)	CTSD	Single nucleotide variant (synonymous variant)	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 2886187	NM_001909.5(CTSD):c.1188G>A (p.Val396=)	CTSD	Single nucleotide variant (synonymous variant)	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 2694808	NM_001909.5(CTSD):c.1185T>C (p.Thr395=)	CTSD	Single nucleotide variant (synonymous variant)	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 597707	NM_001909.5(CTSD):c.1185T>G (p.Thr395=)	CTSD	Single nucleotide variant (synonymous variant)	Neuronal ceroid lipofuscinosis +1 more	GConflicting classifications of pathogenicity
Select item 579889	NM_001909.5(CTSD):c.1183A>G (p.Thr395Ala)	CTSD (T395A)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis +1 more	GUncertain significance
Select item 2112589	NM_001909.5(CTSD):c.1182C>T (p.Tyr394=)	CTSD	Single nucleotide variant (synonymous variant)	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 2758670	NM_001909.5(CTSD):c.1176C>A (p.Arg392=)	CTSD	Single nucleotide variant (synonymous variant)	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 2194329	NM_001909.5(CTSD):c.1175G>A (p.Arg392His)	CTSD (R392H)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis +1 more	GUncertain significance
Select item 1018640	NM_001909.5(CTSD):c.1175G>T (p.Arg392Leu)	CTSD (R392L)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis	GUncertain significance
Select item 2148385	NM_001909.5(CTSD):c.1174C>T (p.Arg392Cys)	CTSD (R392C)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis	GUncertain significance
Select item 2168533	NM_001909.5(CTSD):c.1171G>A (p.Gly391Ser)	CTSD (G391S)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis	GUncertain significance
Select item 1121944	NM_001909.5(CTSD):c.1170C>T (p.Ile390=)	CTSD	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 590122	NM_001909.5(CTSD):c.1170C>G (p.Ile390Met)	CTSD (I390M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 183293	NM_001909.5(CTSD):c.1155_1169dup (p.Phe389_Ile390insMetGlyAspValPhe)	CTSD	Duplication (inframe_insertion)	Severe microlissencephaly +1 more	GLikely pathogenic
Select item 2834710	NM_001909.5(CTSD):c.1164C>T (p.Val388=)	CTSD	Single nucleotide variant (synonymous variant)	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 2763775	NM_001909.5(CTSD):c.1164C>G (p.Val388=)	CTSD	Single nucleotide variant (synonymous variant)	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 287566	NM_001909.5(CTSD):c.1162G>A (p.Val388Ile)	CTSD (V388I)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GUncertain significance
Select item 2171095	NM_001909.5(CTSD):c.1161C>T (p.Asp387=)	CTSD	Single nucleotide variant (synonymous variant)	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 498487	NM_001909.5(CTSD):c.1159G>A (p.Asp387Asn)	CTSD (D387N)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis +2 more	GUncertain significance
Select item 947364	NM_001909.5(CTSD):c.1158C>T (p.Gly386=)	CTSD	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 205344	NM_001909.5(CTSD):c.1150A>G (p.Ile384Val)	CTSD (I384V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 17574	NM_001909.5(CTSD):c.1149G>C (p.Trp383Cys)	CTSD (W383C)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis 10	GPathogenic
Select item 1387236	NM_001909.5(CTSD):c.1147_1148del (p.Trp383fs)	CTSD (W383fs)	Deletion (frameshift variant)	Neuronal ceroid lipofuscinosis	GUncertain significance
Select item 1510886	NM_001909.5(CTSD):c.1146_1147del (p.Trp383fs)	CTSD (W383fs)	Microsatellite (frameshift variant)	Neuronal ceroid lipofuscinosis	GUncertain significance
Select item 1661745	NM_001909.5(CTSD):c.1146C>G (p.Leu382=)	CTSD	Single nucleotide variant (synonymous variant)	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 2130707	NM_001909.5(CTSD):c.1142del (p.Pro381fs)	CTSD (P381fs)	Deletion (frameshift variant)	Neuronal ceroid lipofuscinosis	GUncertain significance
Select item 1140602	NM_001909.5(CTSD):c.1140G>A (p.Gly380=)	CTSD	Single nucleotide variant (synonymous variant)	Neuronal ceroid lipofuscinosis	GLikely benign
Select item 128871	NM_001909.5(CTSD):c.1137C>T (p.Ser379=)	CTSD	Single nucleotide variant (synonymous variant)	Neuronal ceroid lipofuscinosis +1 more	GLikely benign
Select item 1055980	NM_001909.5(CTSD):c.1136G>A (p.Ser379Asn)	CTSD (S379N)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis	GUncertain significance

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