"Yale Center for Mendelian Genomics, Yale University"[submitter] AND " - ClinVar - NCBI

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Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 627619	NM_177400.3(NKX6-2):c.608G>A (p.Trp203Ter)	NKX6-2 (W203*)	Single nucleotide variant (nonsense)	Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy	GLikely pathogenic
Select item 627618	NM_177400.3(NKX6-2):c.606delinsTA (p.Lys202fs)	NKX6-2 (K202fs)	Indel (frameshift variant)	Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy	GPathogenic
Select item 627617	NM_177400.3(NKX6-2):c.599G>A (p.Arg200Gln)	NKX6-2 (R200Q)	Single nucleotide variant (missense variant)	Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy	GPathogenic
Select item 1344694	NM_177400.3(NKX6-2):c.598C>T (p.Arg200Trp)	NKX6-2 (R200W)	Single nucleotide variant (missense variant)	Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy	GPathogenic
Select item 1344693	NM_177400.3(NKX6-2):c.592A>G (p.Asn198Asp)	NKX6-2 (N198D)	Single nucleotide variant (missense variant)	Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy	GLikely pathogenic
Select item 627616	NM_177400.3(NKX6-2):c.589C>T (p.Gln197Ter)	NKX6-2 (Q197*)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 1344692	NM_177400.3(NKX6-2):c.571C>T (p.Gln191Ter)	NKX6-2 (Q191*)	Single nucleotide variant (nonsense)	Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy	GPathogenic
Select item 627615	NM_177400.3(NKX6-2):c.565G>T (p.Glu189Ter)	NKX6-2 (E189*)	Single nucleotide variant (nonsense)	Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy	GPathogenic
Select item 1344691	NM_177400.3(NKX6-2):c.541C>G (p.Leu181Val)	NKX6-2 (L181V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 430623	NM_177400.3(NKX6-2):c.487C>G (p.Leu163Val)	NKX6-2 (L163V)	Single nucleotide variant (missense variant)	Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy	GPathogenic
Select item 1344690	NM_177400.3(NKX6-2):c.301C>A (p.Arg101Ser)	NKX6-2 (R101S)	Single nucleotide variant (missense variant)	Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy	GLikely pathogenic
Select item 503871	NM_177400.3(NKX6-2):c.196del (p.Arg66fs)	NKX6-2 (R66fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 430622	NM_177400.3(NKX6-2):c.121A>T (p.Lys41Ter)	NKX6-2 (K41*)	Single nucleotide variant (nonsense)	Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy	GPathogenic