14324[HGNC] - ClinVar

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Items: 51

	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 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 2409404	NM_030968.5(C1QTNF1):c.32C>T (p.Ala11Val)	C1QTNF1 (A11V)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2512713	NM_030968.5(C1QTNF1):c.56C>T (p.Ala19Val)	C1QTNF1 (A19V)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2492481	NM_030968.5(C1QTNF1):c.76C>T (p.Arg26Cys)	C1QTNF1 (R26C)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2205741	NM_030968.5(C1QTNF1):c.77G>A (p.Arg26His)	C1QTNF1 (R26H)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2207194	NM_030968.5(C1QTNF1):c.99A>T (p.Glu33Asp)	C1QTNF1 (E33D)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2220659	NM_030968.5(C1QTNF1):c.134C>T (p.Ser45Leu)	C1QTNF1 (S45L)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2386487	NM_030968.5(C1QTNF1):c.151G>A (p.Glu51Lys)	C1QTNF1 (E51K)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3135736	NM_030968.5(C1QTNF1):c.193G>C (p.Asp65His)	C1QTNF1 (D65H)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3135737	NM_030968.5(C1QTNF1):c.214C>T (p.Arg72Trp)	C1QTNF1 (R72W)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2232787	NM_030968.5(C1QTNF1):c.256G>C (p.Ala86Pro)	C1QTNF1, LOC126862658 (A4P +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2225688	NM_030968.5(C1QTNF1):c.262G>A (p.Ala88Thr)	C1QTNF1, LOC126862658 (A88T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3135738	NM_030968.5(C1QTNF1):c.298G>A (p.Glu100Lys)	C1QTNF1, LOC126862658 (E100K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2479292	NM_030968.5(C1QTNF1):c.310C>G (p.Arg104Gly)	C1QTNF1, LOC126862658 (R22G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2355028	NM_030968.5(C1QTNF1):c.311G>A (p.Arg104His)	C1QTNF1, LOC126862658 (R22H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2338502	NM_030968.5(C1QTNF1):c.374C>T (p.Thr125Ile)	C1QTNF1, LOC126862658 (T43I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2531947	NM_030968.5(C1QTNF1):c.427A>G (p.Ser143Gly)	C1QTNF1, LOC126862658 (S143G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 781391	NM_030968.5(C1QTNF1):c.435C>T (p.Tyr145=)	C1QTNF1, LOC126862658	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2406900	NM_030968.5(C1QTNF1):c.482A>G (p.Tyr161Cys)	C1QTNF1, LOC126862658 (Y79C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2233776	NM_030968.5(C1QTNF1):c.491C>T (p.Thr164Met)	C1QTNF1, LOC126862658 (T164M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 729868	NM_030968.5(C1QTNF1):c.501C>T (p.Phe167=)	C1QTNF1, LOC126862658	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2247090	NM_030968.5(C1QTNF1):c.520C>G (p.Leu174Val)	C1QTNF1, LOC126862658 (L174V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2381413	NM_030968.5(C1QTNF1):c.569C>G (p.Pro190Arg)	C1QTNF1, LOC126862658 (P190R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2648384	NM_030968.5(C1QTNF1):c.675_676delinsA (p.Gly226fs)	C1QTNF1 (G144fs +1 more)	Indel (frameshift variant +1 more)	not provided	GUncertain significance
Select item 2280337	NM_030968.5(C1QTNF1):c.764G>C (p.Arg255Pro)	C1QTNF1 (R173P +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3242941	NC_000017.10:g.(?_76109229)_(78367298_?)dup	AFMID, BIRC5 +29 more	Duplication	Idiopathic generalized epilepsy	GUncertain significance
Select item 2684858	GRCh37/hg19 17q25.3(chr17:76905755-77611113)x3	C1QTNF1, CANT1 +4 more	Copy number gain	not provided	GUncertain significance
Select item 2426801	NC_000017.10:g.(?_76851749)_(78367298_?)dup	C1QTNF1, CANT1 +16 more	Duplication	Psoriasis 2 +1 more	GUncertain significance
Select item 1701331	GRCh37/hg19 17q25.1-25.3(chr17:73481509-81043199)x3	AFMID, LRRC45 +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 1340469	GRCh37/hg19 17q25.3(chr17:76852379-77297300)x3	C1QTNF1, CANT1 +4 more	Copy number gain	not provided	GUncertain significance
Select item 980730	GRCh37/hg19 17q25.3(chr17:76852029-77297898)x3	C1QTNF1, CANT1 +4 more	Copy number gain	not provided	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 686455	GRCh37/hg19 17q25.3(chr17:76857398-77308782)x3	C1QTNF1, CANT1 +4 more	Copy number gain	not provided	GUncertain significance
Select item 686443	GRCh37/hg19 17q25.3(chr17:76857398-77308782)x3	C1QTNF1, CANT1 +4 more	Copy number gain	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 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: 51