ClinVar for MedGen (Select 462463) - ClinVar

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Items: 46

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1173060	NM_014321.4(ORC6):c.65G>A (p.Arg22Lys)	ORC6 (R22K)	Single nucleotide variant (missense variant +1 more)	Meier-Gorlin syndrome 3	GPathogenic
Select item 1173059	NM_014321.4(ORC6):c.71C>T (p.Ala24Val)	ORC6 (A24V)	Single nucleotide variant (missense variant +1 more)	Meier-Gorlin syndrome 3	GPathogenic
Select item 977909	NM_014321.4(ORC6):c.360-1G>T	ORC6	Single nucleotide variant (splice acceptor variant)	Meier-Gorlin syndrome 3	GLikely pathogenic
Select item 887922	NM_014321.4(ORC6):c.390A>T (p.Gln130His)	ORC6 (Q130H)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 887921	NM_014321.4(ORC6):c.32C>G (p.Pro11Arg)	ORC6 (P11R)	Single nucleotide variant (missense variant +1 more)	Meier-Gorlin syndrome 3 +1 more	GUncertain significance
Select item 887920	NM_014321.4(ORC6):c.27A>G (p.Leu9=)	ORC6	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 886721	NM_014321.4(ORC6):c.*524A>G	ORC6	Single nucleotide variant (3 prime UTR variant +1 more)	Meier-Gorlin syndrome 3	GUncertain significance
Select item 886720	NM_014321.4(ORC6):c.*517G>A	ORC6	Single nucleotide variant (3 prime UTR variant +1 more)	Meier-Gorlin syndrome 3	GUncertain significance
Select item 886719	NM_014321.4(ORC6):c.*452C>T	ORC6	Single nucleotide variant (3 prime UTR variant +1 more)	Meier-Gorlin syndrome 3	GUncertain significance
Select item 886665	NM_014321.4(ORC6):c.-19T>C	ORC6	Single nucleotide variant (5 prime UTR variant +1 more)	Meier-Gorlin syndrome 3	GUncertain significance
Select item 885713	NM_014321.4(ORC6):c.*170C>G	ORC6	Single nucleotide variant (3 prime UTR variant +1 more)	Meier-Gorlin syndrome 3	GUncertain significance
Select item 885712	NM_014321.4(ORC6):c.*10C>G	ORC6	Single nucleotide variant (3 prime UTR variant +1 more)	Meier-Gorlin syndrome 3	GUncertain significance
Select item 885711	NM_014321.4(ORC6):c.682C>G (p.Leu228Val)	ORC6 (L228V)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 more	GUncertain significance
Select item 884772	NM_014321.4(ORC6):c.592C>T (p.Arg198Trp)	ORC6 (R198W)	Single nucleotide variant (missense variant +1 more)	Meier-Gorlin syndrome 3	GUncertain significance
Select item 884771	NM_014321.4(ORC6):c.552G>A (p.Gln184=)	ORC6	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 884770	NM_014321.4(ORC6):c.430G>A (p.Ala144Thr)	ORC6 (A144T)	Single nucleotide variant (missense variant +1 more)	Meier-Gorlin syndrome 3	GUncertain significance
Select item 632253	NM_014321.4(ORC6):c.199del (p.Tyr67fs)	ORC6 (Y67fs)	Deletion (frameshift variant +1 more)	Meier-Gorlin syndrome 3	GUncertain significance
Select item 632252	NM_014321.4(ORC6):c.196-1G>A	ORC6	Single nucleotide variant (splice acceptor variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 436124	NM_014321.4(ORC6):c.1A>G (p.Met1Val)	ORC6 (M1V)	Single nucleotide variant (missense variant +2 more)	Meier-Gorlin syndrome 3	GPathogenic
Select item 436123	NM_014321.4(ORC6):c.235T>A (p.Tyr79Asn)	ORC6 (Y79N)	Single nucleotide variant (missense variant +1 more)	Meier-Gorlin syndrome 3	GLikely pathogenic
Select item 319324	NM_014321.4(ORC6):c.*640G>A	ORC6	Single nucleotide variant (3 prime UTR variant +1 more)	Meier-Gorlin syndrome 3	GUncertain significance
Select item 319323	NM_014321.4(ORC6):c.*621T>C	ORC6	Single nucleotide variant (3 prime UTR variant +1 more)	Meier-Gorlin syndrome 3	GUncertain significance
Select item 319318	NM_014321.4(ORC6):c.*598G>A	ORC6	Single nucleotide variant (3 prime UTR variant +1 more)	Meier-Gorlin syndrome 3	GUncertain significance
Select item 319315	NM_014321.4(ORC6):c.*594A>G	ORC6	Single nucleotide variant (3 prime UTR variant +1 more)	Meier-Gorlin syndrome 3	GUncertain significance
Select item 319314	NM_014321.4(ORC6):c.*582A>C	ORC6	Single nucleotide variant (3 prime UTR variant +1 more)	Meier-Gorlin syndrome 3	GUncertain significance
Select item 319310	NM_014321.4(ORC6):c.*479G>A	ORC6	Single nucleotide variant (non-coding transcript variant +1 more)	Meier-Gorlin syndrome 3	GBenign
Select item 319309	NM_014321.4(ORC6):c.*363C>T	ORC6	Single nucleotide variant (3 prime UTR variant +1 more)	Meier-Gorlin syndrome 3	GUncertain significance
Select item 319308	NM_014321.4(ORC6):c.*307A>G	ORC6	Single nucleotide variant (3 prime UTR variant +1 more)	Meier-Gorlin syndrome 3	GUncertain significance
Select item 319307	NM_014321.4(ORC6):c.*232A>T	ORC6	Single nucleotide variant (3 prime UTR variant +1 more)	Meier-Gorlin syndrome 3	GUncertain significance
Select item 319306	NM_014321.4(ORC6):c.*217C>T	ORC6	Single nucleotide variant (non-coding transcript variant +1 more)	Meier-Gorlin syndrome 3	GBenign
Select item 319305	NM_014321.4(ORC6):c.*115T>G	ORC6	Single nucleotide variant (3 prime UTR variant +1 more)	Meier-Gorlin syndrome 3	GUncertain significance
Select item 319304	NM_014321.4(ORC6):c.556G>T (p.Val186Phe)	ORC6 (V186F)	Single nucleotide variant (missense variant +1 more)	Meier-Gorlin syndrome 3 +1 more	GUncertain significance
Select item 319303	NM_014321.4(ORC6):c.450-4G>A	ORC6	Single nucleotide variant (intron variant)	Meier-Gorlin syndrome 3	GUncertain significance
Select item 319302	NM_014321.4(ORC6):c.413C>A (p.Pro138Gln)	ORC6 (P138Q)	Single nucleotide variant (missense variant +1 more)	Meier-Gorlin syndrome 3 +1 more	GUncertain significance
Select item 319301	NM_014321.4(ORC6):c.96G>C (p.Arg32=)	ORC6	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 319300	NM_014321.4(ORC6):c.23G>T (p.Arg8Leu)	ORC6 (R8L)	Single nucleotide variant (missense variant +1 more)	Meier-Gorlin syndrome 3 +1 more	GUncertain significance
Select item 260387	NM_014321.4(ORC6):c.-47G>A	ORC6, VPS35	Single nucleotide variant (5 prime UTR variant +1 more)	Parkinson Disease, Dominant +3 more	GConflicting classifications of pathogenicity
Select item 260386	NM_014321.4(ORC6):c.-20T>C	ORC6, VPS35	Single nucleotide variant (5 prime UTR variant +1 more)	Parkinson Disease, Dominant +3 more	GBenign
Select item 253274	NM_014321.4(ORC6):c.602_605del (p.Lys201fs)	ORC6 (K201fs)	Microsatellite (frameshift variant +1 more)	Meier-Gorlin syndrome 3	GPathogenic
Select item 253273	NM_014321.4(ORC6):c.449+5G>A	ORC6	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 253272	NM_014321.4(ORC6):c.2T>C (p.Met1Thr)	ORC6 (M1T)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 211808	NM_014321.4(ORC6):c.360-13A>G	ORC6	Single nucleotide variant (intron variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 129866	NM_014321.4(ORC6):c.675T>C (p.Asp225=)	ORC6	Single nucleotide variant (synonymous variant +1 more)	not specified +2 more	GBenign
Select item 129865	NM_014321.4(ORC6):c.207T>G (p.Ile69Met)	ORC6 (I69M)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 30656	NM_014321.4(ORC6):c.695A>C (p.Tyr232Ser)	ORC6 (Y232S)	Single nucleotide variant (missense variant +1 more)	Meier-Gorlin syndrome 3	GPathogenic
Select item 30655	NM_014321.4(ORC6):c.257_258del (p.Ser85_Phe86insTer)	ORC6	Deletion (nonsense +1 more)	Meier-Gorlin syndrome 3	GPathogenic

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Links from MedGen

Items: 46