Related gene-specific medical variations for Gene (Select 6608) - ClinVar

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Items: 30

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3359973	NM_005631.5(SMO):c.2258C>T (p.Pro753Leu)	SMO (P753L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3237435	NM_005631.5(SMO):c.244G>C (p.Val82Leu)	SMO (V82L)	Single nucleotide variant (missense variant)	Hamartoma of hypothalamus	GUncertain significance
Select item 3237387	NM_005631.5(SMO):c.979G>A (p.Ala327Thr)	SMO (A327T)	Single nucleotide variant (missense variant)	Hamartoma of hypothalamus	GUncertain significance
Select item 3166600	NM_005631.5(SMO):c.13C>T (p.Arg5Cys)	LOC129999303, SMO (R5C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2672182	NM_005631.5(SMO):c.537G>A (p.Thr179=)	SMO	Single nucleotide variant (synonymous variant)	Curry-Jones syndrome	GUncertain significance
Select item 2672174	NM_005631.5(SMO):c.1358-3C>T	SMO	Single nucleotide variant (intron variant)	Hamartoma of hypothalamus	GUncertain significance
Select item 2672141	NM_005631.5(SMO):c.173C>T (p.Pro58Leu)	LOC129999303, SMO (P58L)	Single nucleotide variant (missense variant)	Hamartoma of hypothalamus	GUncertain significance
Select item 2672133	NM_005631.5(SMO):c.771G>A (p.Arg257=)	SMO	Single nucleotide variant (synonymous variant)	Curry-Jones syndrome	GUncertain significance
Select item 2672101	NM_005631.5(SMO):c.1102C>G (p.Pro368Ala)	SMO (P368A)	Single nucleotide variant (missense variant)	Curry-Jones syndrome	GUncertain significance
Select item 2597130	NM_005631.5(SMO):c.176C>A (p.Pro59Gln)	LOC129999303, SMO (P59Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2534611	NM_005631.5(SMO):c.112G>T (p.Gly38Trp)	LOC129999303, SMO (G38W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2444000	NM_005631.5(SMO):c.43C>G (p.Leu15Val)	LOC129999303, SMO (L15V)	Single nucleotide variant (missense variant)	See cases	GBenign
Select item 2436204	NM_005631.5(SMO):c.1798G>A (p.Val600Met)	SMO (V600M)	Single nucleotide variant (missense variant)	Hamartoma of hypothalamus	GUncertain significance
Select item 2320411	NM_005631.5(SMO):c.14G>C (p.Arg5Pro)	LOC129999303, SMO (R5P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1319864	NM_005631.5(SMO):c.1684C>T (p.Arg562Trp)	SMO (R562W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1208694	NM_005631.5(SMO):c.-415G>T	LOC129999302, SMO	Single nucleotide variant (5 prime UTR variant)	not provided	GLikely benign
Select item 1207639	NM_005631.5(SMO):c.-35G>T	LOC129999303, SMO	Single nucleotide variant (5 prime UTR variant)	not provided	GLikely benign
Select item 1049166	NM_005631.5(SMO):c.50_51insCCT (p.Leu23dup)	LOC129999303, SMO	Insertion (inframe_insertion)	not provided	GUncertain significance
Select item 982248	NM_005631.5(SMO):c.160G>A (p.Val54Met)	LOC129999303, SMO (V54M)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 769335	NM_005631.5(SMO):c.49CTG[8] (p.Leu23dup)	LOC129999303, SMO	Microsatellite (inframe_insertion)	not provided	GBenign
Select item 768202	NM_005631.5(SMO):c.74A>G (p.Asp25Gly)	LOC129999303, SMO (D25G)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 375938	NM_005631.5(SMO):c.1417G>C (p.Asp473His)	SMO (D473H)	Single nucleotide variant (missense variant)	Basal cell carcinoma +1 more	GPathogenic
Select item 135576	NM_005631.5(SMO):c.2057C>T (p.Ala686Val)	SMO (A686V)	Single nucleotide variant (missense variant)	Hamartoma of hypothalamus	GUncertain significance
Select item 135270	NM_005631.5(SMO):c.1417G>A (p.Asp473Asn)	SMO (D473N)	Single nucleotide variant (missense variant)	not specified	Gnot provided
Select item 135268	NM_005631.5(SMO):c.672G>T (p.Glu224Asp)	SMO (E224D)	Single nucleotide variant (missense variant)	not specified	Gnot provided
Select item 135265	NM_005631.5(SMO):c.517C>T (p.Arg173Cys)	SMO (R173C)	Single nucleotide variant (missense variant)	not specified	Gnot provided
Select item 135264	NM_005631.5(SMO):c.2344G>A (p.Asp782Asn)	SMO (D782N)	Single nucleotide variant (missense variant)	not specified	Gnot provided
Select item 135262	NM_005631.5(SMO):c.2314C>T (p.Arg772Cys)	SMO (R772C)	Single nucleotide variant (missense variant)	not specified	Gnot provided
Select item 135261	NM_005631.5(SMO):c.2227C>A (p.Pro743Thr)	SMO (P743T)	Single nucleotide variant (missense variant)	not specified	Gnot provided
Select item 135258	NM_005631.5(SMO):c.99C>G (p.Ser33Arg)	LOC129999303, SMO (S33R)	Single nucleotide variant (missense variant)	not specified	Gnot provided

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Links from Gene

Items: 30