Related gene-specific medical variations for Gene (Select 23125) - ClinVar - NCBI

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Links from Gene

Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3234593	NM_015099.4(CAMTA2):c.3243T>C (p.Cys1081=)	CAMTA2, LOC126862471	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3136935	NM_015099.4(CAMTA2):c.*12C>T	CAMTA2, LOC126862471 (P1230S)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3136934	NM_015099.4(CAMTA2):c.3594G>C (p.Pro1198=)	CAMTA2, LOC126862471 (G1221R)	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 3136932	NM_015099.4(CAMTA2):c.3130G>A (p.Glu1044Lys)	CAMTA2, LOC126862471 (E1044K +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2485286	NM_015099.4(CAMTA2):c.3194G>A (p.Arg1065Gln)	CAMTA2, LOC126862471 (R1064Q +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2406294	NM_015099.4(CAMTA2):c.3248G>A (p.Arg1083Gln)	CAMTA2, LOC126862471 (R1083Q +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2331054	NM_015099.4(CAMTA2):c.3538C>G (p.Arg1180Gly)	CAMTA2, LOC126862471 (R1179G +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2281097	NM_015099.4(CAMTA2):c.3582G>A (p.Gly1194=)	CAMTA2, LOC126862471 (A1217T)	Single nucleotide variant (synonymous variant +1 more)	not specified	GUncertain significance
Select item 2247091	NM_015099.4(CAMTA2):c.3567C>T (p.Asn1189=)	CAMTA2, LOC126862471 (P1212S)	Single nucleotide variant (synonymous variant +1 more)	not specified	GUncertain significance
Select item 1700258	NM_015099.4(CAMTA2):c.-107G>A	CAMTA2, LOC130060059	Single nucleotide variant (5 prime UTR variant)	not provided	GUncertain significance