24857[HGNC] - ClinVar

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Items: 41

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146075	GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1	CUL1, CUX1 +4737 more	Copy number loss	See cases	GPathogenic
Select item 57453	GRCh38/hg38 7p22.3-14.1(chr7:54185-41875885)x3	ABCB5, ACTB +1298 more	Copy number gain	See cases	GPathogenic
Select item 151578	GRCh38/hg38 7p14.3-14.1(chr7:32678391-41044983)x1	AMPH, ANLN +229 more	Copy number loss	See cases	GPathogenic
Select item 59680	GRCh38/hg38 7p14.3-q11.21(chr7:33328312-62377476)x3	LOC129389795, LOC129389796 +636 more	Copy number gain	See cases	GPathogenic
Select item 149132	GRCh38/hg38 7p14.2-14.1(chr7:35460776-42013800)x1	AMPH, ANLN +197 more	Copy number loss	See cases	GPathogenic
Select item 148053	GRCh38/hg38 7p14.1-12.3(chr7:37303478-48660738)x1	LOC121175342, LOC121740678 +380 more	Copy number loss	See cases	GPathogenic
Select item 154192	GRCh38/hg38 7p14.1-13(chr7:38177999-45304100)x1	AEBP1, AMPH +288 more	Copy number loss	See cases	GPathogenic
Select item 148230	GRCh38/hg38 7p14.1-13(chr7:39063400-45363096)x1	LOC129998373, LOC129998374 +231 more	Copy number loss	See cases	GPathogenic
Select item 151971	GRCh38/hg38 7p14.1(chr7:39251052-40641073)x1	CDK13, CDK13-DT +37 more	Copy number loss	See cases	GUncertain significance
Select item 2592435	NM_020192.5(YAE1):c.19G>A (p.Ala7Thr)	LOC129998282, YAE1 (A7T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3191394	NM_020192.5(YAE1):c.62A>T (p.Asp21Val)	LOC129998282, YAE1 (D21V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3333612	NM_020192.5(YAE1):c.116A>G (p.Gln39Arg)	LOC129998282, YAE1 (Q39R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3191384	NM_020192.5(YAE1):c.209C>A (p.Ala70Glu)	YAE1 (A70E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3191385	NM_020192.5(YAE1):c.278A>G (p.His93Arg)	YAE1 (H93R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3191387	NM_020192.5(YAE1):c.340G>A (p.Glu114Lys)	YAE1 (E114K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3191388	NM_020192.5(YAE1):c.361C>A (p.Leu121Met)	YAE1 (L121M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3191389	NM_020192.5(YAE1):c.374C>T (p.Thr125Ile)	YAE1 (T125I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3191390	NM_020192.5(YAE1):c.410T>C (p.Ile137Thr)	YAE1 (I137T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3333609	NM_020192.5(YAE1):c.455T>C (p.Ile152Thr)	YAE1 (I152T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3191391	NM_020192.5(YAE1):c.460G>A (p.Glu154Lys)	YAE1 (E154K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2458186	NM_020192.5(YAE1):c.463G>A (p.Ala155Thr)	YAE1 (A155T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3191392	NM_020192.5(YAE1):c.482G>C (p.Cys161Ser)	YAE1 (C161S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3333611	NM_020192.5(YAE1):c.535G>A (p.Asp179Asn)	YAE1 (D179N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 778301	NM_020192.5(YAE1):c.577C>T (p.His193Tyr)	YAE1 (H193Y)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 3191393	NM_020192.5(YAE1):c.601T>A (p.Trp201Arg)	YAE1 (W201R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2593531	NM_020192.5(YAE1):c.646T>C (p.Ser216Pro)	YAE1 (S216P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3062981	GRCh37/hg19 7p14.3-14.1(chr7:33478398-39686397)x1	AMPH, ANLN +22 more	Copy number loss	not specified	GLikely pathogenic
Select item 3062975	GRCh37/hg19 7p14.1(chr7:38484106-42786613)x1	AMPH, CDK13 +8 more	Copy number loss	not specified	GPathogenic
Select item 1708459	GRCh37/hg19 7p22.3-q36.3(chr7:56604613-96692931)x1	AASS, ABCA13 +896 more	Copy number loss	See cases	GUncertain significance
Select item 1703560	Single allele	CACNA2D1, CADPS2 +896 more	Complex	Ring chromosome 7	GPathogenic
Select item 1340861	GRCh37/hg19 7p14.1(chr7:38728844-40069964)x3	CDK13, POU6F2 +3 more	Copy number gain	not provided	GUncertain significance
Select item 687427	GRCh37/hg19 7p22.3-q36.3(chr7:10365-159119707)x3	PRSS1, PRSS37 +896 more	Copy number gain	not provided	GPathogenic
Select item 563420	GRCh37/hg19 7p14.3-13(chr7:30463886-43470805)x3	PPP1R17, NPSR1-AS1 +51 more	Copy number gain	not provided	GPathogenic
Select item 442834	GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)x3	AVL9, AZGP1 +896 more	Copy number gain	See cases	GPathogenic
Select item 442833	GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)	MCM7, MDFIC +896 more	Copy number gain	See cases	GPathogenic
Select item 442557	GRCh37/hg19 7p14.1(chr7:38619347-40542932)x1	AMPH, CDK13 +6 more	Copy number loss	See cases	GLikely pathogenic
Select item 441541	GRCh37/hg19 7p21.3-12.1(chr7:11048840-52863626)x3	RP9, SCIN +196 more	Copy number gain	See cases	GPathogenic
Select item 441054	GRCh37/hg19 7p14.1(chr7:38619347-40542932)x1	AMPH, CDK13 +6 more	Copy number loss	not provided	Gnot provided
Select item 402244	TMEM106B-BRAF fusion	AASS, ABCA13 +678 more	Deletion	Pleomorphic xanthoastrocytoma	GPathogenic
Select item 395336	GRCh37/hg19 7p14.3-13(chr7:32911003-44576005)x1	AEBP1, AMPH +54 more	Copy number loss	See cases	GPathogenic
Select item 242972	NC_000007.13:g.(20954043_21001537)_(114528369_114556605)inv	ARMC10, ASB4 +504 more	Inversion	Childhood apraxia of speech	GPathogenic

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Items: 41