9259[HGNC] - ClinVar

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Items: 31

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 148945	GRCh38/hg38 10q11.23-23.2(chr10:50729367-87147204)x3	LOC129390180, LOC129390181 +1008 more	Copy number gain	See cases	GPathogenic
Select item 146115	GRCh38/hg38 10q21.3-22.3(chr10:67196567-79422057)x3	LOC130004125, LOC130004126 +580 more	Copy number gain	See cases	GPathogenic
Select item 2384887	NM_005729.4(PPIF):c.53G>C (p.Arg18Pro)	LOC128462404, PPIF (R18P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3217196	NM_005729.4(PPIF):c.182G>T (p.Arg61Leu)	LOC128462404, PPIF (R61L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3309186	NM_005729.4(PPIF):c.194A>T (p.Glu65Val)	LOC128462404, PPIF (E65V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2289697	NM_005729.4(PPIF):c.211G>A (p.Val71Ile)	PPIF (V71I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3217197	NM_005729.4(PPIF):c.265G>A (p.Gly89Ser)	PPIF (G89S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2536982	NM_005729.4(PPIF):c.278C>T (p.Ser93Phe)	PPIF (S93F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3217198	NM_005729.4(PPIF):c.322G>A (p.Asp108Asn)	PPIF (D108N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2211297	NM_005729.4(PPIF):c.328A>G (p.Thr110Ala)	PPIF (T110A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3217199	NM_005729.4(PPIF):c.370C>T (p.Arg124Cys)	PPIF (R124C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2409978	NM_005729.4(PPIF):c.403G>A (p.Val135Met)	PPIF (V135M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2514989	NM_005729.4(PPIF):c.454T>G (p.Ser152Ala)	PPIF (S152A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2320299	NM_005729.4(PPIF):c.478A>G (p.Lys160Glu)	PPIF (K160E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3217200	NM_005729.4(PPIF):c.481A>C (p.Thr161Pro)	PPIF (T161P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2570390	NM_005729.4(PPIF):c.520G>A (p.Val174Ile)	LOC128462405, PPIF (V174I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2463312	NM_005729.4(PPIF):c.538G>T (p.Val180Phe)	LOC128462405, PPIF (V180F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 728878	NM_005729.4(PPIF):c.561C>T (p.Phe187=)	LOC128462405, PPIF	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 785321	NM_005729.4(PPIF):c.612C>G (p.Gly204=)	PPIF, LOC128462405	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2684602	GRCh37/hg19 10q11.21-24.2(chr10:42709645-100834951)x3	RRP12, RTKN2 +332 more	Copy number gain	not provided	GPathogenic
Select item 2574696	GRCh37/hg19 10p14-q26.3(chr10:11138692-135427143)	AGAP5, CRTAC1 +682 more	Copy number gain	Distal trisomy 10q	GPathogenic
Select item 2574686	GRCh37/hg19 10p13-q26.3(chr10:12829206-135427143)	ABRAXAS2, CHCHD1 +673 more	Copy number loss	Distal 10q deletion syndrome	GPathogenic
Select item 1340854	GRCh37/hg19 10q22.3(chr10:81013486-81409192)x3	EIF5AL1, PPIF +4 more	Copy number gain	not provided	GUncertain significance
Select item 979273	GRCh37/hg19 10q22.3-23.1(chr10:81028088-82059110)x3	NUTM2B, ANXA11 +10 more	Copy number gain	not provided	GUncertain significance
Select item 832057	NC_000010.10:g.(?_80961390)_(81319734_?)del	EIF5AL1, PPIF +3 more	Deletion	not provided	GPathogenic
Select item 563800	GRCh37/hg19 10q21.3-23.32(chr10:69040366-93194993)x3	ACTA2, ADAMTS14 +168 more	Copy number gain	not provided	GPathogenic
Select item 563786	GRCh37/hg19 10q22.3-23.1(chr10:79808669-84008729)x3	MAT1A, DYDC1 +17 more	Copy number gain	not provided	GUncertain significance
Select item 523165	GRCh37/hg19 10q11.21-26.3(chr10:42347406-135534747)x1	COX15, CPEB3 +569 more	Copy number loss	Poly (ADP-Ribose) polymerase inhibitor response	Gdrug response
Select item 441987	GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)	INA, INPP5A +721 more	Copy number gain	See cases	GPathogenic
Select item 441986	GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)x3	A1CF, ABCC2 +721 more	Copy number gain	See cases	GPathogenic
Select item 393995	GRCh37/hg19 10p15.3-q26.3(chr10:93297-135378918)x3	A1CF, ABCC2 +722 more	Copy number gain	See cases	GPathogenic

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Items: 31