1510[Gene ID] - ClinVar

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Items: 58

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58112	GRCh38/hg38 1q31.1-42.11(chr1:187143981-224299417)x3	LOC129932539, LOC129932540 +1148 more	Copy number gain	See cases	GPathogenic
Select item 545154	NC_000001.11:g.(?_204033173)_(208209798_?)del	LOC129932391, PIK3C2B +278 more	Deletion	Autism	GLikely pathogenic
Select item 153790	GRCh38/hg38 1q32.1-42.12(chr1:204764914-225408698)x3	LOC129388734, LOC129388735 +723 more	Copy number gain	See cases	GPathogenic
Select item 2514049	NM_001910.4(CTSE):c.1163G>A (p.Arg388His)	CTSE (V341M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3270213	NM_001910.4(CTSE):c.1059T>C (p.Ser353=)	CTSE (V231A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2521089	NM_001910.4(CTSE):c.1052G>C (p.Cys351Ser)	CTSE (A229P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2428645	NM_001910.4(CTSE):c.1027G>C (p.Asp343His)	CTSE (D343H +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3270218	NM_001910.4(CTSE):c.1023A>G (p.Leu341=)	CTSE (Y219C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3078756	NM_001910.4(CTSE):c.1017C>T (p.Tyr339=)	CTSE (T217I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2360854	NM_001910.4(CTSE):c.997A>T (p.Thr333Ser)	CTSE (T333S)	Single nucleotide variant (synonymous variant +1 more)	not specified	GUncertain significance
Select item 2524325	NM_001910.4(CTSE):c.985G>A (p.Gly329Arg)	CTSE (G329R)	Single nucleotide variant (synonymous variant +1 more)	not specified	GUncertain significance
Select item 2591757	NM_001910.4(CTSE):c.984C>T (p.Asn328=)	CTSE (T206M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2480287	NM_001910.4(CTSE):c.962C>T (p.Pro321Leu)	CTSE (R199W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3270212	NM_001910.4(CTSE):c.933T>C (p.Ala311=)	CTSE (L264P +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2464791	NM_001910.4(CTSE):c.901A>C (p.Ile301Leu)	CTSE (I301L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2564016	NM_001910.4(CTSE):c.856C>T (p.Leu286Phe)	CTSE (L286F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3078761	NM_001910.4(CTSE):c.797G>A (p.Gly266Glu)	CTSE (G266E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2312838	NM_001910.4(CTSE):c.775G>C (p.Ala259Pro)	CTSE (A259P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2457310	NM_001910.4(CTSE):c.745C>A (p.Pro249Thr)	CTSE (P249T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2534989	NM_001910.4(CTSE):c.688G>A (p.Glu230Lys)	CTSE (E155K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3078759	NM_001910.4(CTSE):c.616G>A (p.Ala206Thr)	CTSE (A206T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2235662	NM_001910.4(CTSE):c.609C>A (p.Asn203Lys)	CTSE (N203K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3270214	NM_001910.4(CTSE):c.571T>G (p.Ser191Ala)	CTSE (S116A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2588748	NM_001910.4(CTSE):c.562G>A (p.Gly188Arg)	CTSE (G188R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3078758	NM_001910.4(CTSE):c.478G>A (p.Val160Met)	CTSE (V160M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2388990	NM_001910.4(CTSE):c.451G>A (p.Asp151Asn)	CTSE (D76N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2399637	NM_001910.4(CTSE):c.365C>T (p.Pro122Leu)	CTSE (P122L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 161586	NM_001910.4(CTSE):c.319G>A (p.Val107Met)	CTSE (V107M +1 more)	Single nucleotide variant (missense variant)	Malignant tumor of prostate	GUncertain significance
Select item 2477447	NM_001910.4(CTSE):c.303C>A (p.Asn101Lys)	CTSE (N101K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2337493	NM_001910.4(CTSE):c.239G>A (p.Gly80Asp)	CTSE (G5D +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2219407	NM_001910.4(CTSE):c.226A>G (p.Met76Val)	CTSE (M76V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3270215	NM_001910.4(CTSE):c.205C>T (p.Pro69Ser)	CTSE (P69S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2604353	NM_001910.4(CTSE):c.187G>T (p.Asp63Tyr)	CTSE (D63Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2349053	NM_001910.4(CTSE):c.172G>A (p.Glu58Lys)	CTSE (E58K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3270217	NM_001910.4(CTSE):c.158T>C (p.Met53Thr)	CTSE (M53T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2252295	NM_001910.4(CTSE):c.133T>C (p.Phe45Leu)	CTSE (F45L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2407055	NM_001910.4(CTSE):c.110G>A (p.Arg37Gln)	CTSE (R37Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2369668	NM_001910.4(CTSE):c.109C>T (p.Arg37Trp)	CTSE (R37W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3078762	NM_001910.4(CTSE):c.92C>A (p.Ser31Tyr)	CTSE (S31Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3270216	NM_001910.4(CTSE):c.69G>C (p.Arg23Ser)	CTSE (R23S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3078760	NM_001910.4(CTSE):c.67A>T (p.Arg23Trp)	CTSE (R23W)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2255535	NM_001910.4(CTSE):c.62T>C (p.Leu21Pro)	CTSE (L21P)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3248093	NC_000001.10:g.(?_190829412)_(216061974_?)del	RPS6KC1, SERTAD4 +185 more	Deletion	not provided	GPathogenic
Select item 2425293	NC_000001.10:g.(?_200522516)_(206945780_?)dup	ADIPOR1, ADORA1 +90 more	Duplication	Epilepsy, familial adult myoclonic, 5	GUncertain significance
Select item 2422293	NC_000001.10:g.(?_200522516)_(208391267_?)dup	ADIPOR1, ADORA1 +110 more	Duplication	not provided	GUncertain significance
Select item 1809264	GRCh37/hg19 1q25.3-32.3(chr1:181453460-213107248)x3	ASPM, IPO9 +211 more	Copy number gain	not provided	GPathogenic
Select item 1708464	GRCh37/hg19 1q31.3-44(chr1:197867914-249224684)x3	COA6, COG2 +381 more	Copy number gain	See cases	GPathogenic
Select item 1003645	NC_000001.10:g.(?_130980840)_(248900000_?)dup	FCGR3A, LCE3C +956 more	Duplication	Parathyroid carcinoma +2 more	GUncertain significance
Select item 972964	GRCh37/hg19 1q31.3-32.2(chr1:194356425-210988710)x3	CD34, MDM4 +145 more	Copy number gain	not provided	Gnot provided
Select item 816482	GRCh37/hg19 1q32.1-44(chr1:204045948-249218992)x3	C1orf35, C1orf74 +320 more	Copy number gain	See cases	GPathogenic
Select item 688022	GRCh37/hg19 1q32.1-32.3(chr1:206329070-213263817)x3	ANGEL2, ATF3 +63 more	Copy number gain	not provided	GUncertain significance
Select item 685144	GRCh37/hg19 1q25.3-44(chr1:182388773-249111240)x3	C4BPB, CACNA1S +433 more	Copy number gain	not provided	GPathogenic
Select item 523270	GRCh37/hg19 1q32.1-32.3(chr1:204682513-212815646)	CAMK1G, CD34 +75 more	Copy number loss	Global developmental delay +2 more	GPathogenic
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	CD34, CD46 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	GPATCH2, GPATCH3 +2014 more	Copy number gain	See cases	GPathogenic
Select item 394853	GRCh37/hg19 1q32.1(chr1:206320311-206331223)x1	CTSE	Copy number loss	See cases	GLikely benign
Select item 394081	GRCh37/hg19 1q31.3-44(chr1:195483439-249213000)x3	AVPR1B, B3GALNT2 +393 more	Copy number gain	See cases	GPathogenic
Select item 253654	GRCh37/hg19 1q31.3-42.13(chr1:197811907-228997888)x3	ACBD3, ADIPOR1 +242 more	Copy number gain	See cases	GPathogenic

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Items: 58