CYTH1[gene] - ClinVar

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Items: 34

	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 146403	GRCh38/hg38 17q25.3(chr17:78225356-80099979)x1	TIMP2, TMEM235 +144 more	Copy number loss	See cases	GLikely pathogenic
Select item 153374	GRCh38/hg38 17q25.3(chr17:78484862-79436025)x4	C1QTNF1, C1QTNF1-AS1 +55 more	Copy number gain	See cases	GUncertain significance
Select item 2318881	NM_004762.6(CYTH1):c.1190G>A (p.Arg397Gln)	CYTH1 (R337Q +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2357653	NM_004762.6(CYTH1):c.1093A>G (p.Lys365Glu)	CYTH1 (K305E +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2311949	NM_004762.6(CYTH1):c.956A>G (p.Lys319Arg)	CYTH1 (K260R +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2208238	NM_004762.6(CYTH1):c.938G>A (p.Arg313Gln)	CYTH1 (R314Q +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3079814	NM_004762.6(CYTH1):c.786C>G (p.Asp262Glu)	CYTH1 (D203E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3067981	NM_004762.6(CYTH1):c.699+1G>C	CYTH1	Single nucleotide variant (splice donor variant)	not provided	GUncertain significance
Select item 2265255	NM_004762.6(CYTH1):c.656G>A (p.Arg219Gln)	CYTH1 (R219Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2352204	NM_004762.6(CYTH1):c.577A>G (p.Ile193Val)	CYTH1 (I195V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3079813	NM_004762.6(CYTH1):c.569C>T (p.Ser190Phe)	CYTH1 (S190F +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2492421	NM_004762.6(CYTH1):c.366T>A (p.Phe122Leu)	CYTH1 (F63L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2604011	NM_004762.6(CYTH1):c.178A>G (p.Met60Val)	CYTH1 (M1V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2321684	NM_004762.6(CYTH1):c.138T>A (p.Asn46Lys)	CYTH1 (N46K +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2524550	NM_004762.6(CYTH1):c.115G>A (p.Asp39Asn)	CYTH1 (D41N +1 more)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 1701331	GRCh37/hg19 17q25.1-25.3(chr17:73481509-81043199)x3	SLC26A11, SLC38A10 +146 more	Copy number gain	not provided	GPathogenic
Select item 1526587	GRCh37/hg19 17q25.3(chr17:76770309-77174429)	C1QTNF1, CANT1 +6 more	Copy number gain	not specified	GUncertain significance
Select item 815953	GRCh37/hg19 17q25.1-25.3(chr17:73261871-78608763)x3	AANAT, ACOX1 +84 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 687345	GRCh37/hg19 17q25.3(chr17:76743756-76842862)x1	CYTH1, USP36	Copy number loss	not provided	GUncertain significance
Select item 686060	GRCh37/hg19 17q25.3(chr17:76743756-76842862)x1	CYTH1, USP36	Copy number loss	not provided	GUncertain significance
Select item 564477	GRCh37/hg19 17q25.3(chr17:76676371-77287185)x3	CANT1, CYTH1 +6 more	Copy number gain	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 564475	GRCh37/hg19 17q25.3(chr17:76470653-77095130)x4	DNAH17, TIMP2 +7 more	Copy number gain	not provided	GUncertain significance
Select item 564474	GRCh37/hg19 17q25.3(chr17:76395581-76703281)x3	CYTH1, DNAH17 +1 more	Copy number gain	not provided	GUncertain significance
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	EFTUD2, EIF1 +1143 more	Copy number gain	See cases	GPathogenic
Select item 441815	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)	KRT15, KRT16 +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: 34