"CeGaT Center for Human Genetics Tuebingen"[submitter] AND "KIF21A"[ge - ClinVar - NCBI

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Items: 8

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 728378	NM_001173464.2(KIF21A):c.3854A>C (p.Asn1285Thr)	KIF21A (N1265T +3 more)	Single nucleotide variant (missense variant)	not provided	GBenign/Likely benign
Select item 308558	NM_001173464.2(KIF21A):c.3641C>G (p.Pro1214Arg)	KIF21A (P1214R +3 more)	Single nucleotide variant (missense variant)	Congenital fibrosis of extraocular muscles type 1 +2 more	GBenign/Likely benign
Select item 3067291	NM_001173464.2(KIF21A):c.3306_3319+1dup	KIF21A	Duplication (splice donor variant)	not provided	GUncertain significance
Select item 308562	NM_001173464.2(KIF21A):c.3149A>G (p.Asn1050Ser)	KIF21A (N1037S +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 2436	NM_001173464.2(KIF21A):c.2860C>T (p.Arg954Trp)	KIF21A (R954W +2 more)	Single nucleotide variant (missense variant)	KIF21A-related condition +2 more	GPathogenic
Select item 806865	NM_001173464.2(KIF21A):c.2516C>T (p.Pro839Leu)	KIF21A (P803L +2 more)	Single nucleotide variant (missense variant)	Fibrosis of extraocular muscles, congenital, 3b +1 more	GUncertain significance
Select item 308584	NM_001173464.2(KIF21A):c.1240G>C (p.Gly414Arg)	KIF21A (G414R)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 2642847	NM_001173464.2(KIF21A):c.1063T>C (p.Phe355Leu)	KIF21A (F355L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance