ClinVar for Gene (Select 283991) - ClinVar

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Links from Gene

Items: 22

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3330505	NM_182565.4(UBALD2):c.14T>C (p.Met5Thr)	UBALD2 (M5T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3185436	NM_182565.4(UBALD2):c.259G>A (p.Ala87Thr)	UBALD2 (A87T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3185435	NM_182565.4(UBALD2):c.134C>T (p.Thr45Met)	UBALD2 (T45M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2684857	GRCh37/hg19 17q25.1(chr17:74056941-74313663)x3	EXOC7, FOXJ1 +7 more	Copy number gain	not provided	GUncertain significance
Select item 2595347	NM_182565.4(UBALD2):c.257G>A (p.Arg86His)	UBALD2 (R86H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2490827	NM_182565.4(UBALD2):c.469A>G (p.Met157Val)	UBALD2 (M157V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2343172	NM_182565.4(UBALD2):c.365C>T (p.Ala122Val)	UBALD2 (A122V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2339377	NM_182565.4(UBALD2):c.412C>T (p.Arg138Cys)	UBALD2 (R138C)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2282970	NM_182565.4(UBALD2):c.202A>T (p.Thr68Ser)	LOC130061719, UBALD2 (T68S)	Single nucleotide variant (missense variant)	not specified	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 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 624519	GRCh37/hg19 17q24.1-25.2(chr17:64159738-74891024)x3	LLGL2, MAP2K6 +119 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 443013	GRCh37/hg19 17q25.1-25.2(chr17:73992637-75099218)x4	AANAT, CDK3 +25 more	Copy number gain	See cases	GUncertain significance
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
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 58703	GRCh38/hg38 17q24.3-25.3(chr17:69209079-83086677)x3	MIR636, MIR6516 +1033 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 22