ClinVar for MedGen (Select 890568) - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Links from MedGen

Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 870382	NM_021956.5(GRIK2):c.1979C>A (p.Thr660Lys)	GRIK2 (T660K)	Single nucleotide variant (missense variant)	GRIK2-related neurodevelopmental disorder	GPathogenic
Select item 598969	NM_001099922.3(ALG13):c.50T>A (p.Ile17Asn)	ALG13 (I17N)	Single nucleotide variant (missense variant +2 more)	Microcephaly +5 more	GLikely pathogenic
Select item 598953	NM_005051.3(QARS1):c.1430A>G (p.Tyr477Cys)	QARS1 (Y477C +1 more)	Single nucleotide variant (missense variant +1 more)	Microcephaly +12 more	GConflicting classifications of pathogenicity
Select item 598952	NM_005051.3(QARS1):c.1132C>T (p.Arg378Cys)	QARS1 (R378C +1 more)	Single nucleotide variant (missense variant +1 more)	Microcephaly +14 more	GConflicting classifications of pathogenicity
Select item 458712	NM_002693.3(POLG):c.3242G>A (p.Arg1081Gln)	POLG (R1081Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases +13 more	GConflicting classifications of pathogenicity
Select item 233777	NM_000314.8(PTEN):c.203A>G (p.Tyr68Cys)	PTEN (Y68C +1 more)	Single nucleotide variant (missense variant +1 more)	See cases +12 more	GPathogenic/Likely pathogenic
Select item 224716	NM_002074.5(GNB1):c.284T>C (p.Leu95Pro)	GNB1 (L95P)	Single nucleotide variant (5 prime UTR variant +1 more)	Microcephaly +2 more	GPathogenic/Likely pathogenic
Select item 224715	NM_002074.5(GNB1):c.239T>A (p.Ile80Asn)	GNB1 (I80N)	Single nucleotide variant (5 prime UTR variant +1 more)	Intellectual disability, autosomal dominant 42 +2 more	GPathogenic
Select item 68638	NM_001165963.4(SCN1A):c.4834G>A (p.Val1612Ile)	LOC102724058, SCN1A (V1601I +5 more)	Single nucleotide variant (missense variant +1 more)	Global developmental delay +13 more	GConflicting classifications of pathogenicity