2438[HGNC] - ClinVar

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Items: 24

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 148363	GRCh38/hg38 17q23.1-25.1(chr17:36449220-75053130)x3	AARSD1, AATF +2032 more	Copy number gain	See cases	GPathogenic
Select item 57282	GRCh38/hg38 17q21.33-24.2(chr17:36449220-68170214)x3	LOC126862582, LOC126862583 +1753 more	Copy number gain	See cases	GPathogenic
Select item 58696	GRCh38/hg38 17q12-21.31(chr17:39199873-45629579)x3	LOC130060786, LOC130060787 +633 more	Copy number gain	See cases	GPathogenic
Select item 154398	GRCh38/hg38 17q21.1(chr17:39876786-40048205)x1	CSF3, GSDMA +15 more	Copy number loss	See cases	GUncertain significance
Select item 3078001	NM_172219.3(CSF3):c.14C>T (p.Ala5Val)	CSF3 (A5V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3269757	NM_172219.3(CSF3):c.26C>T (p.Pro9Leu)	CSF3 (P9L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2530042	NM_172219.3(CSF3):c.64A>G (p.Ser22Gly)	CSF3 (S22G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3078003	NM_172219.3(CSF3):c.70C>T (p.Leu24Phe)	CSF3 (L24F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 741620	NM_172219.3(CSF3):c.168C>T (p.Gly56=)	CSF3	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2371631	NM_172219.3(CSF3):c.175G>A (p.Ala59Thr)	CSF3 (A59T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2410207	NM_172219.3(CSF3):c.277A>G (p.Ser93Gly)	CSF3 (S96G +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2558350	NM_172219.3(CSF3):c.328A>G (p.Ser110Gly)	CSF3 (S110G +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3078002	NM_172219.3(CSF3):c.338T>G (p.Phe113Cys)	CSF3 (F113C +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2280151	NM_172219.3(CSF3):c.397T>G (p.Leu133Val)	CSF3 (L133V +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 728891	NM_172219.3(CSF3):c.451-8C>G	CSF3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 712649	NM_172219.3(CSF3):c.460C>A (p.Leu154Met)	CSF3 (L121M +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 768877	NM_172219.3(CSF3):c.504G>T (p.Pro168=)	CSF3	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 712650	NM_172219.3(CSF3):c.510C>T (p.Phe170=)	CSF3	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 720537	NM_172219.3(CSF3):c.511G>A (p.Ala171Thr)	CSF3 (A138T +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 3242217	GRCh37/hg19 17q12-22(chr17:41196270-41277589)	SLC4A1, DCAKD +422 more	Copy number loss	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
Select item 2424720	NC_000017.10:g.(?_37821613)_(38458253_?)dup	CASC3, CDC6 +20 more	Duplication	Hypertrophic cardiomyopathy 25 +1 more	GUncertain significance
Select item 686144	GRCh37/hg19 17p11.2-q21.2(chr17:21690653-38772647)x3	AATF, ABHD15 +201 more	Copy number gain	not provided	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

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Items: 24