ClinVar for Gene (Select 105378065) - ClinVar

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Links from Gene

Items: 25

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3188567	NM_003381.4(VIP):c.448A>T (p.Ile150Phe)	LINC02840, VIP (I149F +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3188565	NM_003381.4(VIP):c.398A>G (p.Asn133Ser)	LINC02840, VIP (N132S +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3188564	NM_003381.4(VIP):c.254T>A (p.Val85Asp)	LINC02840, VIP (V85D)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2663766	NC_000006.12:g.(?_150381239)_(159553952_?)del	LOC129997480, LOC129997522 +288 more	Deletion	Chromosome 6q24-q25 deletion syndrome	GPathogenic
Select item 2579284	GRCh38/hg38 6q25.1-25.3(chr6:150905553-158511926)x1	AKAP12, ARID1B +208 more	Copy number loss	Coffin-Siris syndrome 1	GPathogenic
Select item 2553809	NM_003381.4(VIP):c.331G>A (p.Val111Ile)	LINC02840, VIP (V111I)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2527381	NM_003381.4(VIP):c.457G>A (p.Gly153Arg)	LINC02840, VIP (G153R +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2365518	NM_003381.4(VIP):c.485C>T (p.Pro162Leu)	LINC02840, VIP (P161L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2282814	NM_003381.4(VIP):c.337A>T (p.Ser113Cys)	LINC02840, VIP (S113C)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 2229018	NM_003381.4(VIP):c.311A>G (p.Glu104Gly)	LINC02840, VIP (E104G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2224416	NM_003381.4(VIP):c.469A>C (p.Ser157Arg)	LINC02840, VIP (S156R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 796601	NM_003381.4(VIP):c.396C>T (p.Asp132=)	VIP, LINC02840	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 776175	NM_003381.4(VIP):c.384A>C (p.Ala128=)	LINC02840, VIP	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 774186	NM_003381.4(VIP):c.399C>T (p.Asn133=)	LINC02840, VIP	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 722061	NM_003381.4(VIP):c.342C>T (p.Asn114=)	LINC02840, VIP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 710847	NM_003381.4(VIP):c.231-7G>A	LINC02840, VIP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 538429	NC_000006.12:g.(?_152122416)_(153426916_?)del	ESR1, FBXO5 +31 more	Deletion	Autosomal recessive ataxia, Beauce type +1 more	GPathogenic
Select item 155377	GRCh38/hg38 6q23.2-27(chr6:133537271-165875545)x3	LOC129997469, LOC129997470 +1002 more	Copy number gain	See cases	GPathogenic
Select item 154821	GRCh38/hg38 6q25.2(chr6:152376315-152902773)x3	LINC02840, LOC126859838 +8 more	Copy number gain	See cases	GUncertain significance
Select item 154527	GRCh38/hg38 6q25.2-27(chr6:152376338-170612001)x3	ACAT2, AFDN +571 more	Copy number gain	See cases	GPathogenic
Select item 153525	GRCh38/hg38 6q25.2-27(chr6:152793402-170610394)x1	LOC129997593, LOC129997594 +563 more	Copy number loss	See cases	GPathogenic
Select item 150766	GRCh38/hg38 6q25.1-25.3(chr6:150381239-159553952)x1	LOC115308161, LOC116183076 +288 more	Copy number loss	See cases	GPathogenic
Select item 147665	GRCh38/hg38 6q23.3-25.3(chr6:135358150-155455117)x3	LOC132089359, LOC132089360 +614 more	Copy number gain	See cases	GPathogenic
Select item 58452	GRCh38/hg38 6q24.2-25.2(chr6:144932561-152985364)x1	ADGB, ADGB-DT +227 more	Copy number loss	See cases	GPathogenic
Select item 57020	GRCh38/hg38 6q24.1-27(chr6:141132990-169339571)x3	ACAT2, ADAT2 +865 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 25