"Quest Diagnostics Nichols Institute San Juan Capistrano"[submitter] A - ClinVar

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Items: 31

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 565556	NM_016169.4(SUFU):c.166G>T (p.Ala56Ser)	SUFU (A56S)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 241083	NM_016169.4(SUFU):c.169A>G (p.Ile57Val)	SUFU (I57V)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 241084	NM_016169.4(SUFU):c.183-4G>A	SUFU	Single nucleotide variant (intron variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 241086	NM_016169.4(SUFU):c.210T>C (p.Tyr70=)	SUFU	Single nucleotide variant (synonymous variant)	not specified +4 more	GBenign/Likely benign
Select item 2682090	NM_016169.4(SUFU):c.229G>A (p.Val77Met)	SUFU (V77M)	Single nucleotide variant (missense variant)	Medulloblastoma +2 more	GUncertain significance
Select item 524675	NM_016169.4(SUFU):c.255C>T (p.Pro85=)	SUFU	Single nucleotide variant (synonymous variant)	Gorlin syndrome +3 more	GBenign/Likely benign
Select item 576807	NM_016169.4(SUFU):c.304A>G (p.Asn102Asp)	SUFU (N102D)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 2682091	NM_016169.4(SUFU):c.369T>C (p.Arg123=)	SUFU	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1734662	NM_016169.4(SUFU):c.375G>T (p.Lys125Asn)	SUFU (K125N)	Single nucleotide variant (missense variant)	Gorlin syndrome +3 more	GUncertain significance
Select item 706934	NM_016169.4(SUFU):c.474G>A (p.Gly158=)	SUFU	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign/Likely benign
Select item 413912	NM_016169.4(SUFU):c.600C>T (p.Ile200=)	SUFU	Single nucleotide variant (synonymous variant)	Medulloblastoma +5 more	GConflicting classifications of pathogenicity
Select item 453975	NM_016169.4(SUFU):c.695C>T (p.Pro232Leu)	SUFU (P232L)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GUncertain significance
Select item 453981	NM_016169.4(SUFU):c.855C>T (p.Asp285=)	SUFU	Single nucleotide variant (synonymous variant)	not specified +4 more	GBenign/Likely benign
Select item 406386	NM_016169.4(SUFU):c.926G>A (p.Arg309Gln)	SUFU (R309Q)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +4 more	GUncertain significance
Select item 135282	NM_016169.4(SUFU):c.1018G>T (p.Ala340Ser)	SUFU (A340S)	Single nucleotide variant (missense variant)	Joubert syndrome 32 +5 more	GBenign/Likely benign
Select item 406398	NM_016169.4(SUFU):c.1058C>T (p.Thr353Met)	SUFU (T353M)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 822133	NM_016169.4(SUFU):c.1083T>G (p.Ile361Met)	SUFU (I361M)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 135284	NM_016169.4(SUFU):c.1084C>T (p.Arg362Cys)	SUFU (R362C)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 767143	NM_016169.4(SUFU):c.1131C>T (p.Ser377=)	SUFU	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +3 more	GLikely benign
Select item 413916	NM_016169.4(SUFU):c.1158-10C>T	SUFU	Single nucleotide variant (intron variant)	Gorlin syndrome +2 more	GConflicting classifications of pathogenicity
Select item 413910	NM_016169.4(SUFU):c.1245C>T (p.Gly415=)	SUFU	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +4 more	GConflicting classifications of pathogenicity
Select item 453957	NM_016169.4(SUFU):c.1272C>T (p.Tyr424=)	SUFU	Single nucleotide variant (synonymous variant)	Gorlin syndrome +3 more	GBenign/Likely benign
Select item 241080	NM_016169.4(SUFU):c.1291T>C (p.Leu431=)	SUFU	Single nucleotide variant (synonymous variant)	not specified +4 more	GBenign/Likely benign
Select item 241082	NM_016169.4(SUFU):c.1308C>T (p.Thr436=)	SUFU	Single nucleotide variant (synonymous variant)	Gorlin syndrome +3 more	GBenign/Likely benign
Select item 1159131	NM_016169.4(SUFU):c.1362G>A (p.Glu454=)	SUFU	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +3 more	GConflicting classifications of pathogenicity
Select item 1808525	GRCh37/hg19 10q24.32(chr10:104031306-104366150)x3	ACTR1A, C10orf95 +8 more	Copy number gain	not provided	GUncertain significance
Select item 563802	GRCh37/hg19 10q23.33-26.3(chr10:94346520-135427143)x3	ABCC2, ABLIM1 +298 more	Copy number gain	not provided	GPathogenic
Select item 563771	GRCh37/hg19 10q24.32-24.33(chr10:103891057-105339973)x1	NT5C2, WBP1L +30 more	Copy number loss	not provided	GLikely pathogenic

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Items: 31