ClinVar for MedGen (Select 57641) - ClinVar - NCBI

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Items: 19

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3254622	NM_004465.2(FGF10):c.1_31delinsGCAGCCTTTCAGTTTCAG (p.Met1fs)	FGF10 (M1fs)	Indel (frameshift variant +1 more)	Congenital absence of salivary gland	GLikely pathogenic
Select item 1801340	NM_004465.2(FGF10):c.374C>A (p.Ala125Asp)	FGF10 (A125D)	Single nucleotide variant (missense variant)	Levy-Hollister syndrome +1 more	GLikely pathogenic
Select item 907812	NM_004465.2(FGF10):c.423T>C (p.Tyr141=)	FGF10	Single nucleotide variant (synonymous variant)	Congenital absence of salivary gland +1 more	GConflicting classifications of pathogenicity
Select item 907811	NM_004465.2(FGF10):c.610A>G (p.Met204Val)	FGF10 (M204V)	Single nucleotide variant (missense variant)	Congenital absence of salivary gland +1 more	GConflicting classifications of pathogenicity
Select item 369476	NM_004465.1(FGF10):c.*5A>T	FGF10	Single nucleotide variant (genic downstream transcript variant)	Levy-Hollister syndrome +2 more	GBenign/Likely benign
Select item 353727	NM_004465.2(FGF10):c.144G>A (p.Glu48=)	FGF10	Single nucleotide variant (synonymous variant)	Congenital absence of salivary gland	GUncertain significance
Select item 353726	NM_004465.2(FGF10):c.186C>A (p.Ser62Arg)	FGF10 (S62R)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 353725	NM_004465.2(FGF10):c.261G>A (p.Lys87=)	FGF10	Single nucleotide variant (synonymous variant)	Congenital absence of salivary gland	GBenign
Select item 353724	NM_004465.2(FGF10):c.426C>T (p.Gly142=)	FGF10	Single nucleotide variant (synonymous variant)	Congenital absence of salivary gland	GLikely benign
Select item 353723	NM_004465.2(FGF10):c.430-15G>C	FGF10	Single nucleotide variant (intron variant)	Congenital absence of salivary gland +1 more	GBenign
Select item 353722	NM_004465.2(FGF10):c.591C>T (p.Thr197=)	FGF10	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 353721	NM_004465.2(FGF10):c.624A>G (p.Ser208=)	FGF10	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 288912	NM_004465.2(FGF10):c.620A>C (p.His207Pro)	FGF10 (H207P)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign/Likely benign
Select item 193283	NM_004465.2(FGF10):c.97G>A (p.Val33Ile)	FGF10 (V33I)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign/Likely benign
Select item 7535	NM_004465.2(FGF10):c.413G>A (p.Gly138Glu)	FGF10 (G138E)	Single nucleotide variant (missense variant)	Congenital absence of salivary gland	GPathogenic
Select item 7534	NM_004465.2(FGF10):c.240A>C (p.Arg80Ser)	FGF10 (R80S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 7533	NM_004465.2(FGF10):c.409A>T (p.Lys137Ter)	FGF10 (K137*)	Single nucleotide variant (nonsense)	Lacrimoauriculodentodigital syndrome 3 +1 more	GPathogenic
Select item 7530	NC_000005.10:g.(44304226_44304232)_(44357318_44357323)del	FGF10	Deletion	Congenital absence of salivary gland	GPathogenic
Select item 7529	NM_004465.2(FGF10):c.577C>T (p.Arg193Ter)	FGF10 (R193*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic