31969[HGNC] - ClinVar

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Items: 38

	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 3278200	NM_001008777.3(FBXO47):c.1354A>G (p.Thr452Ala)	FBXO47 (T452A)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2622179	NM_001008777.3(FBXO47):c.1249C>T (p.Arg417Cys)	FBXO47 (R417C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2282910	NM_001008777.3(FBXO47):c.1229A>G (p.Gln410Arg)	FBXO47 (Q410R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2273647	NM_001008777.3(FBXO47):c.1208G>A (p.Cys403Tyr)	FBXO47 (C403Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2606234	NM_001008777.3(FBXO47):c.1205C>T (p.Ala402Val)	FBXO47 (A402V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2397603	NM_001008777.3(FBXO47):c.1197T>G (p.Asn399Lys)	FBXO47 (N399K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3035856	NM_001008777.3(FBXO47):c.1152T>A (p.Phe384Leu)	FBXO47 (F384L)	Single nucleotide variant (missense variant)	FBXO47-related disorder	GLikely benign
Select item 2278543	NM_001008777.3(FBXO47):c.1131G>C (p.Met377Ile)	FBXO47 (M377I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3093782	NM_001008777.3(FBXO47):c.1046C>T (p.Thr349Ile)	FBXO47 (T349I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3278204	NM_001008777.3(FBXO47):c.818T>C (p.Ile273Thr)	FBXO47 (I273T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3049241	NM_001008777.3(FBXO47):c.802G>T (p.Val268Phe)	FBXO47 (V268F)	Single nucleotide variant (missense variant)	FBXO47-related disorder	GLikely benign
Select item 3278201	NM_001008777.3(FBXO47):c.794G>A (p.Gly265Glu)	FBXO47 (G265E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2280242	NM_001008777.3(FBXO47):c.780A>G (p.Ile260Met)	FBXO47 (I260M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3039518	NM_001008777.3(FBXO47):c.657T>C (p.Cys219=)	FBXO47	Single nucleotide variant (synonymous variant)	FBXO47-related disorder	GLikely benign
Select item 1247558	NM_001008777.3(FBXO47):c.626A>G (p.Gln209Arg)	FBXO47 (Q209R)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3093787	NM_001008777.3(FBXO47):c.584G>T (p.Arg195Leu)	FBXO47 (R195L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2538636	NM_001008777.3(FBXO47):c.584G>A (p.Arg195His)	FBXO47 (R195H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2314263	NM_001008777.3(FBXO47):c.526G>A (p.Asp176Asn)	FBXO47 (D176N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3278202	NM_001008777.3(FBXO47):c.460G>A (p.Ala154Thr)	FBXO47 (A154T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3093786	NM_001008777.3(FBXO47):c.449A>G (p.Asn150Ser)	FBXO47 (N150S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3093785	NM_001008777.3(FBXO47):c.326C>G (p.Ala109Gly)	FBXO47 (A109G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2302137	NM_001008777.3(FBXO47):c.320A>G (p.Asp107Gly)	FBXO47 (D107G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3093784	NM_001008777.3(FBXO47):c.178T>G (p.Ser60Ala)	FBXO47 (S60A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3093783	NM_001008777.3(FBXO47):c.171A>C (p.Lys57Asn)	FBXO47 (K57N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2512228	NM_001008777.3(FBXO47):c.112A>G (p.Ile38Val)	FBXO47 (I38V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2495985	NM_001008777.3(FBXO47):c.73A>G (p.Ser25Gly)	FBXO47 (S25G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3278199	NM_001008777.3(FBXO47):c.53G>A (p.Arg18Lys)	FBXO47 (R18K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3035263	NM_001008777.3(FBXO47):c.33G>A (p.Leu11=)	FBXO47	Single nucleotide variant (synonymous variant)	FBXO47-related disorder	GBenign
Select item 3278203	NM_001008777.3(FBXO47):c.22A>G (p.Asn8Asp)	FBXO47 (N8D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2684848	GRCh37/hg19 17q12(chr17:36836115-37099066)x3	CISD3, CWC25 +8 more	Copy number gain	not provided	GUncertain significance
Select item 815933	GRCh37/hg19 17q12(chr17:36710984-37295662)x3	C17orf98, CISD3 +11 more	Copy number gain	not provided	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 564444	GRCh37/hg19 17q12(chr17:36972794-38033708)x4	STARD3, CDK12 +22 more	Copy number gain	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

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Items: 38