ClinVar for MedGen (Select 46178) - ClinVar

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Items: 37

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1354948	NM_000516.7(GNAS):c.348del (p.Val117fs)	GNAS (V118fs +5 more)	Deletion (frameshift variant +1 more)	not provided	GPathogenic
Select item 1301904	NM_000316.3(PTH1R):c.723C>G (p.Asp241Glu)	PTH1R (D241E)	Single nucleotide variant (missense variant)	Pseudohypoparathyroidism	GLikely pathogenic
Select item 1048823	NM_080425.4(GNAS):c.538C>T (p.Gln180Ter)	GNAS (Q180*)	Single nucleotide variant (synonymous variant +2 more)	McCune-Albright syndrome +7 more	GUncertain significance
Select item 1033065	NM_000516.7(GNAS):c.1107_1108del (p.Asn371fs)	GNAS (N357fs +5 more)	Deletion (frameshift variant +1 more)	Pseudohypoparathyroidism +1 more	GPathogenic
Select item 987921	NM_000516.5:c.(?_-424)_(257_?)dup	GNAS	Duplication	Progressive osseous heteroplasia +7 more	GPathogenic
Select item 981517	NM_000516.7(GNAS):c.212+3_212+6del	GNAS	Deletion (splice donor variant)	Pseudohypoparathyroidism	GLikely pathogenic
Select item 976346	NM_080425.4(GNAS):c.754_761del (p.Ser252fs)	GNAS (A190fs +1 more)	Deletion (frameshift variant +1 more)	Pseudohypoparathyroidism +1 more	GLikely pathogenic
Select item 816910	NM_000516.7(GNAS):c.691C>T (p.Arg231Cys)	GNAS (R172C +5 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +11 more	GPathogenic/Likely pathogenic
Select item 816649	NM_000516.7(GNAS):c.530+1G>T	GNAS	Single nucleotide variant (splice donor variant)	Pseudohypoparathyroidism	GPathogenic
Select item 816648	NM_000516.7(GNAS):c.312+36C>T	GNAS	Single nucleotide variant (intron variant)	Pseudohypoparathyroidism	GUncertain significance
Select item 729218	NM_000516.7(GNAS):c.366C>T (p.Pro122=)	GNAS	Single nucleotide variant (synonymous variant +1 more)	not provided +10 more	GBenign/Likely benign
Select item 691981	NM_000516.7(GNAS):c.271A>T (p.Lys91Ter)	GNAS (K32* +5 more)	Single nucleotide variant (nonsense +1 more)	Pseudohypoparathyroidism	GPathogenic
Select item 689463	NM_000516.7(GNAS):c.137T>G (p.Leu46Arg)	GNAS (L46R)	Single nucleotide variant (missense variant +1 more)	Pseudohypoparathyroidism	GUncertain significance
Select item 635558	NM_000516.7(GNAS):c.277C>T (p.Gln93Ter)	GNAS (Q93* +5 more)	Single nucleotide variant (nonsense +1 more)	Pseudohypoparathyroidism	GPathogenic
Select item 431104	NM_080425.4(GNAS):c.475G>A (p.Glu159Lys)	GNAS (E159K)	Single nucleotide variant (synonymous variant +2 more)	Pseudohypoparathyroidism +2 more	GConflicting classifications of pathogenicity
Select item 417936	NM_080425.4(GNAS):c.1455C>A (p.Ala485=)	GNAS (P423H)	Single nucleotide variant (missense variant +2 more)	not provided +8 more	GBenign/Likely benign
Select item 417934	NM_080425.4(GNAS):c.1200C>A (p.Ala400=)	GNAS (P338Q)	Single nucleotide variant (missense variant +2 more)	Pseudohypoparathyroidism +7 more	GUncertain significance
Select item 374113	NM_000516.7(GNAS):c.85C>T (p.Gln29Ter)	GNAS (Q29*)	Single nucleotide variant (nonsense +1 more)	Progressive osseous heteroplasia +16 more	GPathogenic
Select item 216937	NM_000516.7(GNAS):c.880C>T (p.Gln294Ter)	GNAS (Q294* +5 more)	Single nucleotide variant (nonsense +1 more)	Pseudohypoparathyroidism +1 more	GLikely pathogenic
Select item 209158	NM_000516.7(GNAS):c.34C>T (p.Gln12Ter)	GNAS (Q12*)	Single nucleotide variant (nonsense +1 more)	Pseudopseudohypoparathyroidism +11 more	GPathogenic
Select item 15958	NM_000516.7(GNAS):c.1097_1108dup (p.Thr369_Glu370insAlaValAspThr)	GNAS	Duplication (inframe_insertion +1 more)	Pseudohypoparathyroidism	GPathogenic
Select item 15957	NM_000516.7(GNAS):c.254dup (p.Asp85fs)	GNAS (D26fs +2 more)	Duplication (frameshift variant +3 more)	Pseudohypoparathyroidism	GPathogenic
Select item 15953	NM_000516.7(GNAS):c.344C>T (p.Pro115Leu)	GNAS (P115L +5 more)	Single nucleotide variant (missense variant +1 more)	Pseudohypoparathyroidism +1 more	GPathogenic/Likely pathogenic
Select item 15951	NM_000516.7(GNAS):c.860_861del (p.Val287fs)	GNAS (V272fs +5 more)	Microsatellite (frameshift variant +1 more)	not provided	GPathogenic
Select item 15950	NM_000516.7(GNAS):c.112del (p.Arg38fs)	GNAS (R38fs)	Deletion (frameshift variant +1 more)	Pseudopseudohypoparathyroidism +1 more	GPathogenic
Select item 15948	NM_000516.7(GNAS):c.302_303del (p.Glu101fs)	GNAS (E101fs +5 more)	Microsatellite (frameshift variant +1 more)	Pseudohypoparathyroidism +1 more	GPathogenic
Select item 15947	NM_000516.7(GNAS):c.617_618del (p.Gly206fs)	GNAS (G147fs +5 more)	Deletion (frameshift variant +1 more)	Pseudopseudohypoparathyroidism +1 more	GPathogenic
Select item 15946	NM_000516.7(GNAS):c.692G>A (p.Arg231His)	GNAS (R231H +5 more)	Single nucleotide variant (missense variant +1 more)	Pseudohypoparathyroidism type I A +2 more	GPathogenic
Select item 15940	NM_000516.7(GNAS):c.119_139+17del	GNAS	Deletion (intron variant +1 more)	Pseudopseudohypoparathyroidism +1 more	GPathogenic
Select item 15939	NM_000516.7(GNAS):c.750C>G (p.Ser250Arg)	GNAS (S250R +5 more)	Single nucleotide variant (missense variant +1 more)	Pseudohypoparathyroidism	GPathogenic
Select item 15938	NM_000516.7(GNAS):c.565_568del (p.Asp189fs)	GNAS (D130fs +5 more)	Deletion (frameshift variant +1 more)	Pseudohypoparathyroidism type 1B +12 more	GConflicting classifications of pathogenicity
Select item 15932	NM_000516.7(GNAS):c.493C>T (p.Arg165Cys)	GNAS (R150C +5 more)	Single nucleotide variant (missense variant +1 more)	Pseudohypoparathyroidism type I A +2 more	GPathogenic
Select item 15931	NM_000516.7(GNAS):c.296T>C (p.Leu99Pro)	GNAS (L99P +5 more)	Single nucleotide variant (missense variant +1 more)	Pseudohypoparathyroidism	GPathogenic
Select item 15930	GNAS, IVS3AS, A-G, -12	GNAS	Single nucleotide variant	Pseudohypoparathyroidism	GPathogenic
Select item 15929	NM_000516.7(GNAS):c.725del (p.Thr242fs)	GNAS (T243fs +5 more)	Deletion (frameshift variant +1 more)	Progressive osseous heteroplasia +2 more	GPathogenic
Select item 15928	NM_000516.7(GNAS):c.839+1G>C	GNAS	Single nucleotide variant (splice donor variant)	Pseudohypoparathyroidism +1 more	GPathogenic
Select item 15927	NM_000516.7(GNAS):c.1A>G (p.Met1Val)	GNAS (M1V)	Single nucleotide variant (missense variant +2 more)	Pseudohypoparathyroidism +8 more	GPathogenic/Likely pathogenic

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Items: 37