27902[HGNC] - ClinVar

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Items: 43

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58703	GRCh38/hg38 17q24.3-25.3(chr17:69209079-83086677)x3	MIR636, MIR6516 +1033 more	Copy number gain	See cases	GPathogenic
Select item 155275	GRCh38/hg38 17q24.3-25.3(chr17:69916435-83102552)x3	AANAT, AATK +1013 more	Copy number gain	See cases	GPathogenic
Select item 57076	GRCh38/hg38 17q25.3(chr17:78092236-83086677)x3	AATK, ACTG1 +513 more	Copy number gain	See cases	GPathogenic
Select item 57263	GRCh38/hg38 17q25.3(chr17:78901959-83086677)x3	AATK, ACTG1 +387 more	Copy number gain	See cases	GPathogenic
Select item 58714	GRCh38/hg38 17q25.3(chr17:78918650-83021095)x3	AATK, ACTG1 +385 more	Copy number gain	See cases	GPathogenic
Select item 149717	GRCh38/hg38 17q25.3(chr17:81008196-83102584)x3	AATK, ACTG1 +262 more	Copy number gain	See cases	GPathogenic
Select item 153720	GRCh38/hg38 17q25.3(chr17:81401966-83084062)x1	ACTG1, ALYREF +226 more	Copy number loss	See cases	GLikely pathogenic
Select item 3129548	NM_001040025.3(ARL16):c.500C>T (p.Ala167Val)	ARL16 (A105V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3129547	NM_001040025.3(ARL16):c.457C>T (p.Arg153Cys)	ARL16 (R153C +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2477743	NM_001040025.3(ARL16):c.454G>A (p.Ala152Thr)	ARL16 (A90T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2532233	NM_001040025.3(ARL16):c.437C>T (p.Thr146Ile)	ARL16 (T146I +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3129545	NM_001040025.3(ARL16):c.368T>C (p.Met123Thr)	ARL16 (M123T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2491096	NM_001040025.3(ARL16):c.340T>C (p.Phe114Leu)	ARL16 (F114L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2402232	NM_001040025.3(ARL16):c.298C>T (p.Leu100Phe)	ARL16 (L38F +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2317338	NM_001040025.3(ARL16):c.206G>A (p.Ser69Asn)	ARL16 (S7N +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2596591	NM_001040025.3(ARL16):c.201G>T (p.Trp67Cys)	ARL16 (W5C +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2512281	NM_001040025.3(ARL16):c.136A>G (p.Thr46Ala)	ARL16 (T46A)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2382752	NM_001040025.3(ARL16):c.134T>G (p.Leu45Arg)	ARL16 (L45R)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2262287	NM_001040025.3(ARL16):c.101C>A (p.Pro34Gln)	ARL16 (P34Q)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 3129544	NM_001040025.3(ARL16):c.38C>T (p.Thr13Met)	ARL16, LOC112533681 (T13M)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3315041	NM_001040025.3(ARL16):c.19G>C (p.Ala7Pro)	ARL16, LOC112533681 (A7P)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2484957	NM_001040025.3(ARL16):c.8T>C (p.Leu3Pro)	ARL16, LOC112533681 (L3P)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3129549	NM_001040025.3(ARL16):c.-3G>A	ARL16, LOC112533681	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2241184	NM_001040025.3(ARL16):c.-20C>A	ARL16, LOC112533681	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 208393	NM_001040025.3(ARL16):c.-41G>T	ARL16, LOC112533681	Single nucleotide variant (5 prime UTR variant +1 more)	Childhood-onset schizophrenia	GLikely pathogenic
Select item 3243134	NC_000017.10:g.(?_79477716)_(80901020_?)dup	ACTG1, ALYREF +52 more	Duplication	not provided	GUncertain significance
Select item 2685609	GRCh37/hg19 17q25.3(chr17:79128754-80092824)x1	AATK, ACTG1 +41 more	Copy number loss	not provided	GLikely pathogenic
Select item 2445210	Single allele	FOXK2, GCGR +51 more	Deletion	See cases	GPathogenic
Select item 2425656	NC_000017.10:g.(?_79618104)_(79894690_?)dup	ALYREF, ANAPC11 +17 more	Duplication	not provided	GUncertain significance
Select item 2424500	NC_000017.10:g.(?_79477716)_(80900339_?)dup	ACTG1, ALYREF +52 more	Duplication	not provided	GUncertain significance
Select item 2424499	NC_000017.10:g.(?_79618104)_(79674270_?)del	ARL16, CCDC137 +4 more	Deletion	not provided	GPathogenic
Select item 1701331	GRCh37/hg19 17q25.1-25.3(chr17:73481509-81043199)x3	EVPL, EXOC7 +146 more	Copy number gain	not provided	GPathogenic
Select item 689209	GRCh37/hg19 17q24.1-25.3(chr17:62778720-81041938)x3	AANAT, AATK +226 more	Copy number gain	not provided	GPathogenic
Select item 687727	GRCh37/hg19 17q25.3(chr17:78608912-81041938)x3	AATK, ACTG1 +65 more	Copy number gain	not provided	GPathogenic
Select item 687541	GRCh37/hg19 17q25.3(chr17:79496613-79693150)x3	ARL16, CCDC137 +9 more	Copy number gain	not provided	GUncertain significance
Select item 686094	GRCh37/hg19 17q25.3(chr17:79531886-79685043)x1	ARL16, CCDC137 +7 more	Copy number loss	not provided	GUncertain significance
Select item 564476	GRCh37/hg19 17q25.3(chr17:76552611-81041938)x3	AATK, ACTG1 +88 more	Copy number gain	not provided	GLikely pathogenic
Select item 564463	GRCh37/hg19 17q24.1-25.3(chr17:63689671-81041938)x3	AANAT, AATK +222 more	Copy number gain	not provided	GPathogenic
Select item 443488	GRCh37/hg19 17q24.2-25.3(chr17:67002415-81041938)x3	AANAT, AATK +202 more	Copy number gain	See cases	GPathogenic
Select item 443446	GRCh37/hg19 17q25.1-25.3(chr17:73951701-81041938)x3	AANAT, AATK +128 more	Copy number gain	See cases	GPathogenic
Select item 441816	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3	ALOX12, ALOX12B +1143 more	Copy number gain	See cases	GPathogenic
Select item 441815	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)	SPEM2, TBCD +1143 more	Copy number gain	See cases	GPathogenic
Select item 395646	GRCh37/hg19 17q21.31-25.3(chr17:42580684-81085615)x3	AANAT, AATK +458 more	Copy number gain	See cases	GPathogenic

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Items: 43