ClinVar for MedGen (Select 277809) - ClinVar

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Items: 36

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1691355	NM_000142.5(FGFR3):c.1718C>T (p.Pro573Leu)	FGFR3 (P461L +3 more)	Single nucleotide variant (missense variant +1 more)	not provided +14 more	GUncertain significance
Select item 1684285	NM_000142.5(FGFR3):c.184C>T (p.Pro62Ser)	FGFR3 (P62S)	Single nucleotide variant (missense variant +1 more)	FGFR3-related disoder +14 more	GUncertain significance
Select item 1680115	NM_000142.5(FGFR3):c.1959+15G>C	FGFR3	Single nucleotide variant (intron variant)	not provided +14 more	GBenign/Likely benign
Select item 1680111	NM_000142.5(FGFR3):c.1946A>G (p.Lys649Arg)	FGFR3 (K537R +3 more)	Single nucleotide variant (missense variant +1 more)	not provided +14 more	GUncertain significance
Select item 1680106	NM_000142.5(FGFR3):c.1827C>G (p.Ala609=)	FGFR3	Single nucleotide variant (synonymous variant +1 more)	not provided +15 more	GConflicting classifications of pathogenicity
Select item 1680065	NM_000142.5(FGFR3):c.1267G>C (p.Val423Leu)	FGFR3 (V311L +3 more)	Single nucleotide variant (missense variant +1 more)	not provided +15 more	GUncertain significance
Select item 1310646	NM_000142.5(FGFR3):c.1547A>G (p.Asp516Gly)	FGFR3 (D404G +3 more)	Single nucleotide variant (missense variant +1 more)	not provided +14 more	GUncertain significance
Select item 1309951	NM_000142.5(FGFR3):c.1255C>T (p.Leu419Phe)	FGFR3 (L419F +1 more)	Single nucleotide variant (missense variant +2 more)	not provided +14 more	GUncertain significance
Select item 1184620	NM_000455.5(STK11):c.812del (p.Ser271fs)	STK11 (S271fs)	Deletion (frameshift variant)	Germ cell tumor of testis	GPathogenic
Select item 857642	NM_000222.3(KIT):c.2564A>G (p.Tyr855Cys)	KIT (Y851C +5 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +6 more	GConflicting classifications of pathogenicity
Select item 652565	NM_003921.5(BCL10):c.694C>T (p.Arg232Ter)	BCL10 (R221* +1 more)	Single nucleotide variant (nonsense)	Immunodeficiency 37 +4 more	GUncertain significance
Select item 651478	NM_000142.5(FGFR3):c.2413C>T (p.Arg805Trp)	FGFR3 (A782V +4 more)	Single nucleotide variant (missense variant +1 more)	not provided +14 more	GUncertain significance
Select item 465349	NM_000142.5(FGFR3):c.1960-7C>T	FGFR3	Single nucleotide variant (intron variant)	Achondroplasia +14 more	GBenign/Likely benign
Select item 458061	NM_000455.5(STK11):c.747C>T (p.Thr249=)	STK11	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +6 more	GBenign/Likely benign
Select item 458048	NM_000455.5(STK11):c.486C>T (p.Asp162=)	STK11	Single nucleotide variant (synonymous variant)	Melanoma, cutaneous malignant, susceptibility to, 1 +4 more	GLikely benign
Select item 415788	NM_000222.3(KIT):c.531C>T (p.Arg177=)	KIT	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +5 more	GLikely benign
Select item 412534	NM_000455.5(STK11):c.558C>T (p.Thr186=)	STK11	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +6 more	GBenign/Likely benign
Select item 237283	NM_000222.3(KIT):c.840G>C (p.Ala280=)	KIT	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +5 more	GLikely benign
Select item 237264	NM_000222.3(KIT):c.2502G>A (p.Lys834=)	KIT	Single nucleotide variant (synonymous variant)	Germ cell tumor of testis +6 more	GLikely benign
Select item 234549	NM_000455.5(STK11):c.25C>G (p.Leu9Val)	STK11 (L9V)	Single nucleotide variant (missense variant)	Peutz-Jeghers syndrome +5 more	GUncertain significance
Select item 196220	NM_000142.5(FGFR3):c.348C>T (p.Arg116=)	FGFR3	Single nucleotide variant (synonymous variant +1 more)	Achondroplasia +16 more	GBenign/Likely benign
Select item 184046	NM_000455.5(STK11):c.1180G>A (p.Gly394Ser)	STK11 (G394S)	Single nucleotide variant (missense variant)	Embryonal rhabdomyosarcoma +7 more	GUncertain significance
Select item 142410	NM_000455.5(STK11):c.464+10C>T	STK11	Single nucleotide variant (intron variant)	STK11-related condition +8 more	GBenign/Likely benign
Select item 141954	NM_000455.5(STK11):c.1183A>G (p.Thr395Ala)	STK11 (T395A)	Single nucleotide variant (missense variant)	not provided +5 more	GUncertain significance
Select item 135924	NM_000455.5(STK11):c.598-8C>T	STK11	Single nucleotide variant (intron variant)	Carcinoma of pancreas +6 more	GBenign/Likely benign
Select item 135916	NM_000455.5(STK11):c.1194G>A (p.Ala398=)	STK11	Single nucleotide variant (synonymous variant)	Carcinoma of pancreas +6 more	GBenign/Likely benign
Select item 134627	NM_000222.3(KIT):c.2866C>T (p.Arg956Trp)	KIT (R956W +5 more)	Single nucleotide variant (missense variant)	Gastrointestinal stromal tumor +5 more	GUncertain significance
Select item 134404	NM_000142.5(FGFR3):c.1150T>C (p.Phe384Leu)	FGFR3 (F384L +1 more)	Single nucleotide variant (missense variant +2 more)	Achondroplasia +16 more	GBenign/Likely benign
Select item 132959	NM_000142.5(FGFR3):c.1935C>T (p.Leu645=)	FGFR3	Single nucleotide variant (synonymous variant +1 more)	Camptodactyly-tall stature-scoliosis-hearing loss syndrome +14 more	GBenign/Likely benign
Select item 65562	NM_000142.5(FGFR3):c.2420G>T (p.Ter807Leu)	FGFR3	Single nucleotide variant (stop lost +2 more)	Achondroplasia +14 more	GPathogenic
Select item 16347	NM_000142.5(FGFR3):c.1950G>C (p.Lys650Asn)	FGFR3 (K650N +3 more)	Single nucleotide variant (missense variant +1 more)	not provided +14 more	GPathogenic/Likely pathogenic
Select item 16341	NM_000142.5(FGFR3):c.1949A>T (p.Lys650Met)	FGFR3 (K650M +3 more)	Single nucleotide variant (missense variant +1 more)	not provided +14 more	GPathogenic
Select item 16340	NM_000142.5(FGFR3):c.749C>G (p.Pro250Arg)	FGFR3 (P250R)	Single nucleotide variant (missense variant +1 more)	FGFR3-related chondrodysplasia +25 more	GPathogenic/Likely pathogenic
Select item 16335	NM_000142.5(FGFR3):c.2419T>A (p.Ter807Arg)	FGFR3 (V784E)	Single nucleotide variant (stop lost +2 more)	Achondroplasia +14 more	GPathogenic
Select item 13863	NM_000222.3(KIT):c.2446G>C (p.Asp816His)	KIT (D816H +5 more)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 7461	NM_000455.5(STK11):c.1062C>G (p.Phe354Leu)	LOC130062899, STK11 (F354L)	Single nucleotide variant (missense variant)	Melanoma, cutaneous malignant, susceptibility to, 1 +7 more	GBenign/Likely benign

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Items: 36