ClinVar for MedGen (Select 1718472) - ClinVar - NCBI

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Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1064522	NM_003836.7(DLK1):c.194A>G (p.His65Arg)	DLK1 (H65R)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1064521	NM_003836.7(DLK1):c.103G>C (p.Gly35Arg)	DLK1 (G35R)	Single nucleotide variant (missense variant)	Silver-Russell syndrome 1	GUncertain significance
Select item 981209	GRCh37/hg19 11p15.5-15.4(chr11:210300-8664358)x3	IFITM3, OR52D1 +208 more	Copy number gain	Silver-Russell syndrome 1	GPathogenic
Select item 977320	NM_000218.3(KCNQ1):c.1514+37364_1514+38744del	KCNQ1, KCNQ1OT1 +1 more	Deletion (intron variant)	Silver-Russell syndrome 1	GPathogenic
Select item 976061	NM_000612.6(IGF2):c.100G>T (p.Gly34Cys)	IGF2, INS-IGF2 (G34C +1 more)	Single nucleotide variant (missense variant +1 more)	Beckwith-Wiedemann syndrome +3 more	GLikely pathogenic
Select item 625559	GRCh37/hg19 11p15.5-15.3(chr11:193146-12643136)	ADM, AKIP1 +243 more	Copy number gain	Silver-Russell syndrome 1	GPathogenic
Select item 253298	NM_000612.6(IGF2):c.157+1_157+2insGC	IGF2, INS-IGF2	Insertion (splice donor variant)	Silver-Russell syndrome 1	GPathogenic
Select item 253204	NM_002655.3(PLAG1):c.439del (p.Ser147fs)	LOC126860395, PLAG1 (S147fs +1 more)	Deletion (frameshift variant)	Silver-russell syndrome 4 +1 more	GPathogenic
Select item 253036	NM_000612.6(IGF2):c.78C>G (p.Tyr26Ter)	IGF2, INS-IGF2 (Y26* +1 more)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 253035	NM_003483.6(HMGA2):c.189del (p.Ala64fs)	HMGA2 (A64fs)	Deletion (frameshift variant)	Silver-Russell syndrome 5 +1 more	GPathogenic
Select item 253034	NM_003483.6(HMGA2):c.193C>T (p.Gln65Ter)	HMGA2 (Q65*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 253033	NM_002655.3(PLAG1):c.1363del (p.Gln455fs)	PLAG1 (Q373fs +1 more)	Deletion (frameshift variant)	Silver-russell syndrome 4 +1 more	GPathogenic
Select item 192361	NM_001122630.2(CDKN1C):c.803G>T (p.Arg268Leu)	CDKN1C (R279L +2 more)	Single nucleotide variant (missense variant)	Beckwith-Wiedemann syndrome	GPathogenic