3131[Gene ID] - ClinVar

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Items: 28

	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 59590	GRCh38/hg38 17q21.33-22(chr17:49974533-56807609)x1	ABCC3, ACSF2 +196 more	Copy number loss	See cases	GPathogenic
Select item 2256497	NM_002126.5(HLF):c.56A>G (p.Tyr19Cys)	HLF (Y19C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 779173	NM_002126.5(HLF):c.75G>A (p.Leu25=)	HLF	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2232334	NM_002126.5(HLF):c.86C>T (p.Pro29Leu)	HLF (P29L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2601212	NM_002126.5(HLF):c.103C>T (p.His35Tyr)	HLF (H35Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3106167	NM_002126.5(HLF):c.133G>A (p.Asp45Asn)	HLF (D45N)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3106168	NM_002126.5(HLF):c.258G>T (p.Met86Ile)	HLF (M1I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3106169	NM_002126.5(HLF):c.335G>T (p.Gly112Val)	HLF (G27V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2262136	NM_002126.5(HLF):c.385C>T (p.Arg129Trp)	HLF (R44W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 161590	NM_002126.5(HLF):c.436dup (p.Ser146fs)	HLF (S146fs +1 more)	Duplication (frameshift variant)	Malignant tumor of prostate	GUncertain significance
Select item 2373706	NM_002126.5(HLF):c.448C>G (p.Pro150Ala)	HLF (P150A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2478257	NM_002126.5(HLF):c.472C>T (p.Arg158Cys)	HLF (R73C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2335443	NM_002126.5(HLF):c.528G>C (p.Glu176Asp)	HLF (E176D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3284436	NM_002126.5(HLF):c.574A>G (p.Met192Val)	HLF (M192V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2252748	NM_002126.5(HLF):c.593G>A (p.Arg198His)	HLF (R198H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2232743	NM_002126.5(HLF):c.631A>T (p.Ile211Phe)	HLF (I211F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2496329	NM_002126.5(HLF):c.633C>G (p.Ile211Met)	HLF (I126M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2237126	NM_002126.5(HLF):c.728G>A (p.Arg243His)	HLF (R243H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3242218	Single allele	KIF18B, LPO +196 more	Deletion	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
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 564454	GRCh37/hg19 17q22(chr17:53309576-54333707)x1	ANKFN1, MMD +3 more	Copy number loss	not provided	GUncertain significance
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
Select item 394267	GRCh37/hg19 17q22(chr17:52189051-57477162)x3	AKAP1, ANKFN1 +42 more	Copy number gain	See cases	GPathogenic
Select item 394158	GRCh37/hg19 17q21.33-23.2(chr17:49076980-58740945)x3	AKAP1, ANKFN1 +65 more	Copy number gain	See cases	GPathogenic

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Items: 28