C3714756[trait identifier] AND "Tartaglia Lab, Genetics and Rare Disea - ClinVar - NCBI

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Items: 16

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1691097	NM_004521.3(KIF5B):c.1610T>C (p.Leu537Pro)	KIF5B (L537P)	Single nucleotide variant (missense variant)	Seizure +5 more	GPathogenic
Select item 1691098	NM_004521.3(KIF5B):c.1493T>C (p.Leu498Pro)	KIF5B (L498P)	Single nucleotide variant (missense variant)	Feeding difficulties +3 more	GPathogenic
Select item 560221	NM_033310.3(KCNK4):c.515C>A (p.Ala172Glu)	KCNK4, KCNK4-CATSPERZ (A172E)	Single nucleotide variant (non-coding transcript variant +1 more)	Abnormal facial shape +5 more	GPathogenic/Likely pathogenic
Select item 560222	NM_033310.3(KCNK4):c.730G>C (p.Ala244Pro)	KCNK4, KCNK4-CATSPERZ (A244P)	Single nucleotide variant (non-coding transcript variant +1 more)	Abnormal facial shape +4 more	GPathogenic
Select item 1697213	NM_001659.3(ARF3):c.379A>G (p.Lys127Glu)	ARF3 (K127E)	Single nucleotide variant (missense variant)	Hypotonia +6 more	GPathogenic
Select item 1697212	NM_001659.3(ARF3):c.277G>A (p.Asp93Asn)	ARF3 (D93N)	Single nucleotide variant (missense variant)	Neurodevelopmental delay +17 more	GPathogenic/Likely pathogenic
Select item 1697211	NM_001659.3(ARF3):c.200A>T (p.Asp67Val)	ARF3 (D67V)	Single nucleotide variant (missense variant)	Microcephaly +4 more	GPathogenic
Select item 1697210	NM_001659.3(ARF3):c.139C>T (p.Pro47Ser)	ARF3 (P47S)	Single nucleotide variant (missense variant)	Seizure +3 more	GConflicting classifications of pathogenicity
Select item 1697209	NM_001659.3(ARF3):c.95C>A (p.Thr32Asn)	ARF3 (T32N)	Single nucleotide variant (missense variant)	Intellectual disability +2 more	GPathogenic
Select item 1697208	NM_001659.3(ARF3):c.34C>G (p.Leu12Val)	ARF3 (L12V)	Single nucleotide variant (missense variant)	Microcephaly +4 more	GLikely pathogenic
Select item 917749	NM_002745.5(MAPK1):c.968C>G (p.Pro323Arg)	MAPK1 (P323R)	Single nucleotide variant (missense variant)	Specific learning disability +5 more	GPathogenic
Select item 917748	NM_002745.5(MAPK1):c.964G>C (p.Glu322Gln)	MAPK1 (E322Q)	Single nucleotide variant (missense variant)	not provided +6 more	GPathogenic
Select item 917746	NM_002745.5(MAPK1):c.953A>G (p.Asp318Gly)	MAPK1 (D318G)	Single nucleotide variant (missense variant)	Specific learning disability +5 more	GPathogenic
Select item 917745	NM_002745.5(MAPK1):c.952G>A (p.Asp318Asn)	MAPK1 (D318N)	Single nucleotide variant (missense variant)	Specific learning disability +4 more	GPathogenic
Select item 917743	NM_002745.5(MAPK1):c.238C>T (p.His80Tyr)	MAPK1 (H80Y)	Single nucleotide variant (missense variant)	Abnormal facial shape +5 more	GPathogenic
Select item 917742	NM_002745.5(MAPK1):c.221T>A (p.Ile74Asn)	MAPK1 (I74N)	Single nucleotide variant (missense variant)	Abnormal facial shape +5 more	GPathogenic