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

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Items: 15

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 41611	NM_000245.4(MET):c.1124A>G (p.Asn375Ser)	MET (N375S)	Single nucleotide variant (missense variant +1 more)	not specified +4 more	GBenign
Select item 93566	NM_000245.4(MET):c.1131C>T (p.Ile377=)	MET	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome +4 more	GBenign
Select item 1469796	NM_000245.4(MET):c.1274A>G (p.Gln425Arg)	MET (Q425R)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 524856	NM_000245.4(MET):c.1477G>C (p.Glu493Gln)	MET (E493Q +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 97 +3 more	GUncertain significance
Select item 134654	NM_000245.4(MET):c.1771C>T (p.Arg591Trp)	MET (R591W +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 97 +4 more	GConflicting classifications of pathogenicity
Select item 411912	NM_000245.4(MET):c.2318C>T (p.Pro773Leu)	MET (P791L +2 more)	Single nucleotide variant (missense variant)	Renal cell carcinoma +5 more	GConflicting classifications of pathogenicity
Select item 632892	NM_000245.4(MET):c.2851T>C (p.Phe951Leu)	MET (F969L +2 more)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 41624	NM_000245.4(MET):c.2975C>T (p.Thr992Ile)	MET (T1010I +2 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +6 more	GConflicting classifications of pathogenicity
Select item 524885	NM_000245.4(MET):c.4141A>G (p.Thr1381Ala)	MET (T1399A +2 more)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 97 +3 more	GUncertain significance
Select item 2685262	GRCh37/hg19 7q31.1-31.2(chr7:108967155-116850770)x1	TES, TFEC +20 more	Copy number loss	not provided	GPathogenic
Select item 815017	GRCh37/hg19 7q31.1-36.3(chr7:109251060-159119707)x3	CHRM2, KRBA1 +295 more	Copy number gain	not provided	GPathogenic
Select item 815014	GRCh37/hg19 7q22.3-31.32(chr7:106617406-123217914)x1	TMEM168, LAMB4 +59 more	Copy number loss	not provided	GPathogenic
Select item 563422	GRCh37/hg19 7q22.1-36.3(chr7:98693388-159119707)x3	AASS, ABCB8 +436 more	Copy number gain	not provided	GPathogenic
Select item 563410	GRCh37/hg19 7q31.2-31.31(chr7:115520087-118098306)x1	CAV2, TFEC +14 more	Copy number loss	not provided	GLikely pathogenic
Select item 563357	GRCh37/hg19 7q31.2(chr7:116371239-116811139)x1	MET, ST7 +3 more	Copy number loss	not provided	GUncertain significance