LOC106865369[gene] - ClinVar - NCBI

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Items: 14

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 151263	GRCh38/hg38 11p15.5-15.4(chr11:61793-10727969)x3	LOC130005128, LOC130005129 +723 more	Copy number gain	See cases	GPathogenic
Select item 154823	GRCh38/hg38 11p15.5-15.4(chr11:196855-5321874)x3	LOC111718490, LOC112067719 +388 more	Copy number gain	See cases	GPathogenic
Select item 57258	GRCh38/hg38 11p15.5-15.4(chr11:196966-4435344)x3	STIM1-AS1, SYT8 +332 more	Copy number gain	See cases	GPathogenic
Select item 144515	GRCh38/hg38 11p15.5-15.1(chr11:446754-18904742)x3	CHID1, CHRNA10 +917 more	Copy number gain	See cases	GPathogenic
Select item 14445	NC_000011.10:g.(499700_4999400)_(5279346_5279697)del	BGLT3, A-GAMMA3'E +328 more	Deletion	Thalassemia, gamma-delta-beta	GPathogenic
Select item 153706	GRCh38/hg38 11p15.4(chr11:3685244-4414881)x3	LINC02749, LOC106865369 +45 more	Copy number gain	See cases	GUncertain significance
Select item 2275996	NM_016320.5(NUP98):c.1532A>C (p.Lys511Thr)	LOC106865369, NUP98 (K464T +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2262515	NM_016320.5(NUP98):c.1409C>G (p.Ala470Gly)	LOC106865369, NUP98 (A462G +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 770595	NM_016320.5(NUP98):c.1409-6del	LOC106865369, NUP98	Deletion (intron variant)	not provided	GBenign
Select item 2491563	NM_016320.5(NUP98):c.1393C>T (p.Pro465Ser)	LOC106865369, NUP98 (P457S +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 729175	NM_016320.5(NUP98):c.1368G>A (p.Thr456=)	LOC106865369, NUP98	Single nucleotide variant (synonymous variant +2 more)	not provided	GBenign
Select item 2294124	NM_016320.5(NUP98):c.1349C>T (p.Ala450Val)	LOC106865369, NUP98 (A433V +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2378509	NM_016320.5(NUP98):c.1288T>A (p.Ser430Thr)	LOC106865369, NUP98 (S422T +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2641517	NM_016320.5(NUP98):c.1267+3A>G	LOC106865369, NUP98	Single nucleotide variant (intron variant)	not provided	GLikely benign