ClinVar for MedGen (Select 934625) - ClinVar

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Items: 23

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3362322	NM_004984.4(KIF5A):c.957G>A (p.Met319Ile)	KIF5A (M230I +1 more)	Single nucleotide variant (missense variant)	Myoclonus, intractable, neonatal	GPathogenic
Select item 3362320	NM_004984.4(KIF5A):c.1355A>G (p.Gln452Arg)	KIF5A (Q363R +1 more)	Single nucleotide variant (missense variant)	Myoclonus, intractable, neonatal	GLikely pathogenic
Select item 3256743	NM_004984.4(KIF5A):c.614G>A (p.Ser205Asn)	KIF5A (S116N +1 more)	Single nucleotide variant (missense variant)	Myoclonus, intractable, neonatal	GLikely pathogenic
Select item 2663931	NM_004984.4(KIF5A):c.2906del (p.Met969fs)	KIF5A (M880fs +1 more)	Deletion (frameshift variant)	Myoclonus, intractable, neonatal	GLikely pathogenic
Select item 1384538	NM_004984.4(KIF5A):c.3032C>T (p.Pro1011Leu)	KIF5A (P922L +1 more)	Single nucleotide variant (missense variant)	Spastic paraplegia +3 more	GConflicting classifications of pathogenicity
Select item 1343264	NM_004984.4(KIF5A):c.515G>C (p.Arg172Pro)	KIF5A (R172P +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 10 +2 more	GUncertain significance
Select item 1031492	NM_004984.4(KIF5A):c.1240C>T (p.Arg414Trp)	KIF5A (R325W +1 more)	Single nucleotide variant (missense variant)	Myoclonus, intractable, neonatal +1 more	GConflicting classifications of pathogenicity
Select item 1029912	NM_004984.4(KIF5A):c.2590C>T (p.Arg864Ter)	KIF5A (R775* +1 more)	Single nucleotide variant (nonsense)	Myoclonus, intractable, neonatal +1 more	GConflicting classifications of pathogenicity
Select item 1029910	NM_004984.4(KIF5A):c.1063G>T (p.Ala355Ser)	KIF5A (A355S +1 more)	Single nucleotide variant (missense variant)	Myoclonus, intractable, neonatal +3 more	GConflicting classifications of pathogenicity
Select item 989067	NM_004984.4(KIF5A):c.604A>G (p.Ser202Gly)	KIF5A (S113G +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 10	GPathogenic
Select item 987274	NM_004984.4(KIF5A):c.2755+1G>T	KIF5A	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 982657	NM_004984.4(KIF5A):c.832C>T (p.Pro278Ser)	KIF5A (P189S +1 more)	Single nucleotide variant (missense variant)	Myoclonus, intractable, neonatal	GUncertain significance
Select item 931334	NM_004984.4(KIF5A):c.1056G>T (p.Lys352Asn)	KIF5A (K263N +1 more)	Single nucleotide variant (missense variant)	Myoclonus, intractable, neonatal	GUncertain significance
Select item 701212	NM_004984.4(KIF5A):c.820-9C>A	KIF5A	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 10 +3 more	GBenign/Likely benign
Select item 682854	NM_004984.4(KIF5A):c.445+22A>G	KIF5A	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 10 +2 more	GBenign
Select item 640046	NM_004984.4(KIF5A):c.1569+6T>C	KIF5A	Single nucleotide variant (intron variant)	Spastic paraplegia +3 more	GUncertain significance
Select item 372189	NM_004984.4(KIF5A):c.2922del (p.Cys975fs)	KIF5A (C886fs +1 more)	Deletion (frameshift variant)	Myoclonus, intractable, neonatal	GPathogenic
Select item 372188	KIF5A, 1-BP DEL, 2934G	KIF5A	Deletion	Myoclonus, intractable, neonatal	GPathogenic
Select item 372187	NM_004984.4(KIF5A):c.2854del (p.Gln952fs)	KIF5A (Q952fs +1 more)	Deletion (frameshift variant)	Myoclonus, intractable, neonatal	GPathogenic
Select item 219549	NM_004984.4(KIF5A):c.2199-4G>A	KIF5A	Single nucleotide variant (intron variant)	Spastic paraplegia +5 more	GBenign/Likely benign
Select item 215507	NM_004984.4(KIF5A):c.2769G>A (p.Arg923=)	KIF5A	Single nucleotide variant (synonymous variant)	Spastic paraplegia +6 more	GBenign/Likely benign
Select item 37129	NM_004984.4(KIF5A):c.611G>A (p.Arg204Gln)	KIF5A (R204Q +1 more)	Single nucleotide variant (missense variant)	Spastic paraplegia +4 more	GPathogenic/Likely pathogenic
Select item 37127	NM_004984.4(KIF5A):c.751G>A (p.Glu251Lys)	KIF5A (E251K +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic

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Items: 23