ClinVar for MedGen (Select 137970) - ClinVar

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Items: 27

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 2443394	NM_005631.5(SMO):c.2126G>A (p.Arg709Gln)	SMO (R709Q)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
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 1804042	NM_144643.4(SCLT1):c.1043del (p.Ser348fs)	SCLT1 (S348fs)	Deletion (frameshift variant)	Astigmatism +5 more	GPathogenic
Select item 1804041	NM_144643.4(SCLT1):c.2060dup (p.Asn687fs)	SCLT1 (N687fs)	Duplication (frameshift variant)	Astigmatism +5 more	GLikely pathogenic
Select item 1333308	NM_005631.5(SMO):c.1792G>A (p.Gly598Arg)	SMO (G598R)	Single nucleotide variant (missense variant)	Hamartoma of hypothalamus	GUncertain significance
Select item 1281387	NM_005631.5(SMO):c.1264+41A>G	SMO	Single nucleotide variant (intron variant)	Hamartoma of hypothalamus +1 more	GBenign
Select item 1275728	NM_005631.5(SMO):c.538-26C>T	SMO	Single nucleotide variant (intron variant)	Hamartoma of hypothalamus +1 more	GBenign
Select item 1268093	NM_005631.5(SMO):c.747+24G>C	SMO	Single nucleotide variant (intron variant)	Hamartoma of hypothalamus +1 more	GBenign
Select item 982410	NM_005631.5(SMO):c.1198C>T (p.Arg400Cys)	SMO (R400C)	Single nucleotide variant (missense variant)	Hamartoma of hypothalamus	GLikely pathogenic
Select item 982409	NM_005631.5(SMO):c.754T>C (p.Phe252Leu)	SMO (F252L)	Single nucleotide variant (missense variant)	Hamartoma of hypothalamus	GLikely pathogenic
Select item 975037	NM_005631.5(SMO):c.1285A>T (p.Ile429Phe)	SMO (I429F)	Single nucleotide variant (missense variant)	Hamartoma of hypothalamus	GPathogenic
Select item 975036	NM_005631.5(SMO):c.1726C>T (p.Arg576Trp)	SMO (R576W)	Single nucleotide variant (missense variant)	Hamartoma of hypothalamus	GPathogenic
Select item 975035	NM_005631.5(SMO):c.1727G>A (p.Arg576Gln)	SMO (R576Q)	Single nucleotide variant (missense variant)	Hamartoma of hypothalamus	GPathogenic
Select item 975034	NM_005631.5(SMO):c.1339G>T (p.Glu447Ter)	SMO (E447*)	Single nucleotide variant (nonsense)	Hamartoma of hypothalamus	GPathogenic
Select item 975033	NM_005631.5(SMO):c.781C>T (p.Arg261Cys)	SMO (R261C)	Single nucleotide variant (missense variant)	Hamartoma of hypothalamus	GPathogenic
Select item 975032	NM_005631.5(SMO):c.2291_2292del (p.Gln764fs)	SMO (Q764fs)	Deletion (frameshift variant)	Hamartoma of hypothalamus	GPathogenic
Select item 736286	NM_005631.5(SMO):c.621C>T (p.Tyr207=)	SMO	Single nucleotide variant (synonymous variant)	not provided +4 more	GBenign/Likely benign
Select item 435332	NM_000168.6(GLI3):c.3284A>G (p.Asp1095Gly)	GLI3 (D1095G)	Single nucleotide variant (missense variant)	not specified +5 more	GUncertain significance
Select item 403462	NM_005631.5(SMO):c.1164G>C (p.Gly388=)	SMO	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 265182	NM_000168.6(GLI3):c.3118G>A (p.Glu1040Lys)	GLI3 (E1040K)	Single nucleotide variant (missense variant)	Polydactyly +6 more	GUncertain significance
Select item 265180	NM_000168.6(GLI3):c.241G>A (p.Glu81Lys)	GLI3 (E81K)	Single nucleotide variant (missense variant)	Greig cephalopolysyndactyly syndrome +7 more	GConflicting classifications of pathogenicity
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 135575	NM_005631.5(SMO):c.1939C>T (p.Pro647Ser)	SMO (P647S)	Single nucleotide variant (missense variant)	Hamartoma of hypothalamus +1 more	GBenign/Likely benign

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Items: 27