"GeneDx"[submitter] AND "LOC130004614"[gene] - ClinVar

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Items: 20

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58780	GRCh38/hg38 10q24.32-24.33(chr10:102243341-103929730)x1	ACTR1A, ARL3 +121 more	Copy number loss	See cases	GPathogenic
Select item 1211170	NC_000010.11:g.102503825C>A	LOC130004614, SUFU	Single nucleotide variant (genic upstream transcript variant)	not provided	GLikely benign
Select item 1238552	NC_000010.11:g.102503867T>G	LOC130004614, SUFU	Single nucleotide variant (genic upstream transcript variant)	not provided	GBenign
Select item 1196268	NC_000010.11:g.102503873G>A	LOC130004614, SUFU	Single nucleotide variant (genic upstream transcript variant)	not provided	GLikely benign
Select item 677127	NM_016169.3(SUFU):c.-235T>C	LOC130004614, SUFU	Single nucleotide variant (genic upstream transcript variant)	not provided	GBenign
Select item 298564	NM_016169.4(SUFU):c.-178C>T	LOC130004614, SUFU	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GBenign
Select item 298569	NM_016169.4(SUFU):c.-33C>T	LOC130004614, SUFU	Single nucleotide variant (5 prime UTR variant)	not provided +2 more	GLikely benign
Select item 513523	NM_016169.4(SUFU):c.6G>A (p.Ala2=)	LOC130004614, SUFU	Single nucleotide variant (synonymous variant)	Gorlin syndrome +3 more	GLikely benign
Select item 241088	NM_016169.4(SUFU):c.6G>T (p.Ala2=)	LOC130004614, SUFU	Single nucleotide variant (synonymous variant)	Gorlin syndrome +4 more	GConflicting classifications of pathogenicity
Select item 241081	NM_016169.4(SUFU):c.12G>A (p.Leu4=)	LOC130004614, SUFU	Single nucleotide variant (synonymous variant)	Gorlin syndrome +4 more	GBenign/Likely benign
Select item 582859	NM_016169.4(SUFU):c.32G>A (p.Gly11Asp)	LOC130004614, SUFU (G11D)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 824354	NM_016169.4(SUFU):c.38C>T (p.Thr13Ile)	SUFU, LOC130004614 (T13I)	Single nucleotide variant (missense variant)	Familial meningioma +4 more	GUncertain significance
Select item 453965	NM_016169.4(SUFU):c.43C>A (p.Pro15Thr)	LOC130004614, SUFU (P15T)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +5 more	GUncertain significance
Select item 3569	NM_016169.4(SUFU):c.44C>T (p.Pro15Leu)	LOC130004614, SUFU (P15L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1103982	NM_016169.4(SUFU):c.45C>T (p.Pro15=)	LOC130004614, SUFU	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +3 more	GConflicting classifications of pathogenicity
Select item 940909	NM_016169.4(SUFU):c.46C>A (p.Pro16Thr)	LOC130004614, SUFU (P16T)	Single nucleotide variant (missense variant)	Medulloblastoma +3 more	GUncertain significance
Select item 3368447	NM_016169.4(SUFU):c.50C>A (p.Ala17Asp)	LOC130004614, SUFU (A17D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 413907	NM_016169.4(SUFU):c.50C>T (p.Ala17Val)	LOC130004614, SUFU (A17V)	Single nucleotide variant (missense variant)	Medulloblastoma +3 more	GConflicting classifications of pathogenicity
Select item 486526	NM_016169.4(SUFU):c.67C>T (p.Pro23Ser)	LOC130004614, SUFU (P23S)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GConflicting classifications of pathogenicity
Select item 1773688	NM_016169.4(SUFU):c.103C>T (p.His35Tyr)	LOC130004614, SUFU (H35Y)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance

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Items: 20