ClinVar for MedGen (Select 1382553) - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Links from MedGen

Items: 25

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3362620	NM_177400.3(NKX6-2):c.162C>A (p.Leu54=)	NKX6-2	Single nucleotide variant (synonymous variant)	Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy	GLikely benign
Select item 2921133	NM_177400.3(NKX6-2):c.305G>T (p.Gly102Val)	NKX6-2 (G102V)	Single nucleotide variant (missense variant)	Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy	GUncertain significance
Select item 2503419	NM_177400.3(NKX6-2):c.287_288dup (p.Ala97fs)	NKX6-2 (A97fs)	Microsatellite (frameshift variant)	Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy	GLikely pathogenic
Select item 2442100	NM_177400.3(NKX6-2):c.89T>G (p.Phe30Cys)	NKX6-2 (F30C)	Single nucleotide variant (missense variant)	Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy	GUncertain significance
Select item 2434373	NM_177400.3(NKX6-2):c.175G>T (p.Gly59Cys)	NKX6-2 (G59C)	Single nucleotide variant (missense variant)	Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy	GUncertain significance
Select item 1700622	NM_177400.3(NKX6-2):c.516C>G (p.Tyr172Ter)	NKX6-2 (Y172*)	Single nucleotide variant (nonsense)	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 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 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 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 1323367	NM_177400.3(NKX6-2):c.119del (p.Phe40fs)	NKX6-2 (F40fs)	Deletion (frameshift variant)	Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy	GPathogenic
Select item 1170385	NM_177400.3(NKX6-2):c.626T>C (p.Val209Ala)	NKX6-2 (V209A)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 1031745	NM_177400.3(NKX6-2):c.59A>G (p.His20Arg)	NKX6-2 (H20R)	Single nucleotide variant (missense variant)	Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy	GUncertain significance
Select item 1031744	NM_177400.3(NKX6-2):c.450C>G (p.His150Gln)	NKX6-2 (H150Q)	Single nucleotide variant (missense variant)	Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy	GUncertain significance
Select item 638677	NM_177400.3(NKX6-2):c.501C>G (p.Phe167Leu)	NKX6-2 (F167L)	Single nucleotide variant (missense variant)	Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy	GUncertain significance
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 627616	NM_177400.3(NKX6-2):c.589C>T (p.Gln197Ter)	NKX6-2 (Q197*)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
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 504099	NM_177400.3(NKX6-2):c.234del (p.Leu79fs)	NKX6-2 (L79fs)	Deletion (frameshift variant)	Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy +1 more	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 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 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

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from MedGen

Items: 25