Related gene-specific medical variations for Gene (Select 204) - ClinVar

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Items: 26

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3247681	NC_000001.10:g.(?_33480103)_(33480215_?)del	AK2	Deletion	Reticular dysgenesis	GPathogenic
Select item 2977817	NM_001625.4(AK2):c.87G>A (p.Gly29=)	AK2, LOC129930068	Single nucleotide variant (synonymous variant +2 more)	Reticular dysgenesis	GLikely benign
Select item 2899401	NM_001625.4(AK2):c.49C>A (p.Arg17=)	AK2, LOC129930068	Single nucleotide variant (synonymous variant +2 more)	Reticular dysgenesis	GLikely benign
Select item 2638616	NM_001625.4(AK2):c.18A>G (p.Pro6=)	AK2, LOC129930068	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2501776	NM_001625.4(AK2):c.79G>C (p.Gly27Arg)	AK2, LOC129930068 (G27R)	Single nucleotide variant (missense variant +2 more)	Reticular dysgenesis	GUncertain significance
Select item 1546603	NM_001625.4(AK2):c.60G>A (p.Leu20=)	AK2, LOC129930068	Single nucleotide variant (synonymous variant +2 more)	Reticular dysgenesis	GLikely benign
Select item 1540463	NM_001625.4(AK2):c.93+17G>A	AK2, LOC129930068	Single nucleotide variant (intron variant)	Reticular dysgenesis	GLikely benign
Select item 1470936	NM_001625.4(AK2):c.89C>A (p.Thr30Asn)	AK2, LOC129930068 (T30N)	Single nucleotide variant (5 prime UTR variant +2 more)	Reticular dysgenesis	GUncertain significance
Select item 1453536	NM_001625.4(AK2):c.84dup (p.Gly29fs)	AK2, LOC129930068 (G29fs)	Duplication (frameshift variant +2 more)	Reticular dysgenesis	GPathogenic
Select item 1428648	NM_001625.4(AK2):c.5C>T (p.Ala2Val)	AK2, LOC129930068 (A2V)	Single nucleotide variant (missense variant +2 more)	Reticular dysgenesis	GUncertain significance
Select item 1382763	NM_001625.4(AK2):c.35A>G (p.Tyr12Cys)	LOC129930068, AK2 (Y12C)	Single nucleotide variant (missense variant +2 more)	Reticular dysgenesis	GUncertain significance
Select item 1194707	NM_001625.4(AK2):c.-31G>C	AK2, LOC129930068	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1165996	NM_001625.4(AK2):c.54C>T (p.Ala18=)	AK2, LOC129930068	Single nucleotide variant (synonymous variant +2 more)	Reticular dysgenesis	GBenign
Select item 1127853	NM_001625.4(AK2):c.57G>A (p.Val19=)	AK2, LOC129930068	Single nucleotide variant (synonymous variant +2 more)	Reticular dysgenesis	GLikely benign
Select item 1121217	NM_001625.4(AK2):c.9C>T (p.Pro3=)	AK2, LOC129930068	Single nucleotide variant (synonymous variant +2 more)	Reticular dysgenesis	GLikely benign
Select item 1043936	NM_001625.4(AK2):c.79G>A (p.Gly27Ser)	AK2, LOC129930068 (G27S)	Single nucleotide variant (missense variant +2 more)	Reticular dysgenesis	GUncertain significance
Select item 944829	NM_001625.4(AK2):c.31G>A (p.Glu11Lys)	AK2, LOC129930068 (E11K)	Single nucleotide variant (5 prime UTR variant +2 more)	Reticular dysgenesis	GUncertain significance
Select item 840047	NM_001625.4(AK2):c.37C>T (p.Pro13Ser)	AK2, LOC129930068 (P13S)	Single nucleotide variant (5 prime UTR variant +2 more)	Reticular dysgenesis	GUncertain significance
Select item 737934	NM_001625.4(AK2):c.25G>A (p.Glu9Lys)	AK2, LOC129930068 (E9K)	Single nucleotide variant (missense variant +2 more)	AK2-related disorder +1 more	GLikely benign
Select item 651057	NM_001625.4(AK2):c.55G>A (p.Val19Met)	AK2, LOC129930068 (V19M)	Single nucleotide variant (missense variant +2 more)	Reticular dysgenesis	GUncertain significance
Select item 460288	NM_001625.4(AK2):c.49C>G (p.Arg17Gly)	AK2, LOC129930068 (R17G)	Single nucleotide variant (missense variant +2 more)	AK2-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 136329	NM_001625.4(AK2):c.219G>C (p.Leu73=)	AK2	Single nucleotide variant (synonymous variant +2 more)	not provided	GBenign
Select item 136328	NM_001625.2:c.+180G>T	AK2	Single nucleotide variant	not provided	GBenign
Select item 18262	NM_001625.4(AK2):c.25G>T (p.Glu9Ter)	AK2, LOC129930068 (E9*)	Single nucleotide variant (nonsense +2 more)	Reticular dysgenesis	GPathogenic
Select item 18259	NG_016269.1:g.(5157_17324)_(17451_20188)del	AK2	Deletion	Reticular dysgenesis	GPathogenic
Select item 18252	NM_001625.4(AK2):c.1A>G (p.Met1Val)	AK2, LOC129930068 (M1V)	Single nucleotide variant (missense variant +3 more)	Reticular dysgenesis	GPathogenic

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Links from Gene

Items: 26