Related gene-specific medical variations for Gene (Select 23046) - ClinVar - NCBI

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Items: 17

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3365860	NM_001252102.2(KIF21B):c.4006G>A (p.Val1336Ile)	KIF21B, LOC129932203 (V1323I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3362171	NM_001252102.2(KIF21B):c.2853C>A (p.Phe951Leu)	KIF21B (F951L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3361587	NM_001252102.2(KIF21B):c.1609G>C (p.Ala537Pro)	KIF21B (A537P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3359651	NM_001252102.2(KIF21B):c.2321G>A (p.Arg774Gln)	KIF21B (R774Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3359650	NM_001252102.2(KIF21B):c.2455-3C>T	KIF21B	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 3358954	NM_001252102.2(KIF21B):c.1451A>G (p.Glu484Gly)	KIF21B (E484G)	Single nucleotide variant (missense variant)	KIF21B-associated neurodevelopmental disorder	GUncertain significance
Select item 3288530	NM_001252102.2(KIF21B):c.4277T>C (p.Met1426Thr)	KIF21B, LOC126805976 (M1413T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3253410	NM_001252102.2(KIF21B):c.3994A>T (p.Met1332Leu)	KIF21B, LOC129932203 (M1319L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3114660	NM_001252102.2(KIF21B):c.4285G>A (p.Ala1429Thr)	KIF21B, LOC126805976 (A1416T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2501626	NM_001252102.2(KIF21B):c.3998G>A (p.Trp1333Ter)	KIF21B, LOC129932203 (W1320* +1 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2462055	NM_001252102.2(KIF21B):c.4379C>T (p.Thr1460Met)	KIF21B, LOC126805976 (T1447M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2441789	NM_001252102.2(KIF21B):c.16G>T (p.Asp6Tyr)	KIF21B (D6Y)	Single nucleotide variant (missense variant)	KIF21B-related disorder	GUncertain significance
Select item 2354456	NM_001252102.2(KIF21B):c.4411G>A (p.Val1471Met)	KIF21B, LOC126805976 (V1458M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1704903	NM_001252102.2(KIF21B):c.4231G>A (p.Gly1411Ser)	KIF21B, LOC126805976 (G1398S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1676486	NM_017596.4(KIF21B):c.3259C>T (p.His1087Tyr)	KIF21B (H1087Y)	Single nucleotide variant	not provided	GUncertain significance
Select item 1342496	NM_001252102.2(KIF21B):c.4303G>A (p.Val1435Ile)	KIF21B, LOC126805976 (V1422I +1 more)	Single nucleotide variant (missense variant)	KIF21B-related Neurodevelopmental disorder	GUncertain significance
Select item 524169	t(1;15)(q32;q15)dn	KIF21B	Translocation	not specified	GUncertain significance