ClinVar for MedGen (Select 140765) - ClinVar

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Items: 21

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3235121	Single allele	CFAP47, CYBB +22 more	Deletion	McLeod neuroacanthocytosis syndrome	GPathogenic
Select item 2438624	NM_021083.4(XK):c.1220C>T (p.Pro407Leu)	XK (P407L)	Single nucleotide variant (missense variant)	McLeod neuroacanthocytosis syndrome	GUncertain significance
Select item 2438623	NM_021083.4(XK):c.404C>T (p.Ala135Val)	XK (A135V)	Single nucleotide variant (missense variant)	McLeod neuroacanthocytosis syndrome	GUncertain significance
Select item 2438622	NM_021083.4(XK):c.794A>G (p.Glu265Gly)	XK (E265G)	Single nucleotide variant (missense variant)	McLeod neuroacanthocytosis syndrome +1 more	GUncertain significance
Select item 2438621	NM_021083.4(XK):c.335A>G (p.Asn112Ser)	XK (N112S)	Single nucleotide variant (missense variant)	McLeod neuroacanthocytosis syndrome	GUncertain significance
Select item 2438620	NM_021083.4(XK):c.200C>T (p.Pro67Leu)	XK (P67L)	Single nucleotide variant (missense variant)	McLeod neuroacanthocytosis syndrome	GUncertain significance
Select item 2438619	NM_021083.4(XK):c.85C>G (p.Arg29Gly)	XK (R29G)	Single nucleotide variant (missense variant)	McLeod neuroacanthocytosis syndrome	GUncertain significance
Select item 2438618	NM_021083.4(XK):c.100C>G (p.Arg34Gly)	XK (R34G)	Single nucleotide variant (missense variant)	McLeod neuroacanthocytosis syndrome	GUncertain significance
Select item 1300238	NM_021083.4(XK):c.979G>A (p.Glu327Lys)	XK (E327K)	Single nucleotide variant (missense variant)	McLeod neuroacanthocytosis syndrome	Gnot provided
Select item 1300237	NM_021083.4(XK):c.664C>G (p.Arg222Gly)	XK (R222G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1300236	NM_021083.4(XK):c.508+5G>A	XK	Single nucleotide variant (intron variant)	McLeod neuroacanthocytosis syndrome	Gnot provided
Select item 1299565	NM_021083.4(XK):c.664C>T (p.Arg222Ter)	XK (R222*)	Single nucleotide variant (nonsense)	McLeod neuroacanthocytosis syndrome +1 more	GPathogenic/Likely pathogenic
Select item 1057784	NM_021083.4(XK):c.554T>C (p.Leu185Ser)	XK (L185S)	Single nucleotide variant (missense variant)	McLeod neuroacanthocytosis syndrome +1 more	GUncertain significance
Select item 9771	NM_021083.4(XK):c.895C>T (p.Gln299Ter)	XK (Q299*)	Single nucleotide variant (nonsense)	McLeod neuroacanthocytosis syndrome	GPathogenic
Select item 9770	NM_021083.4(XK):c.941G>A (p.Trp314Ter)	XK (W314*)	Single nucleotide variant (nonsense)	McLeod neuroacanthocytosis syndrome	GPathogenic
Select item 9769	NM_021083.4(XK):c.938_951del (p.Asn313fs)	XK (N313fs)	Deletion (frameshift variant)	McLeod neuroacanthocytosis syndrome	GPathogenic
Select item 9768	NM_021083.4(XK):c.880T>C (p.Cys294Arg)	XK (C294R)	Single nucleotide variant (missense variant)	McLeod neuroacanthocytosis syndrome	GPathogenic
Select item 9767	NM_021083.4(XK):c.1013del (p.Phe338fs)	XK (F338fs)	Deletion (frameshift variant)	McLeod neuroacanthocytosis syndrome	GPathogenic
Select item 9766	XK, 1-BP DEL	XK	Deletion	McLeod neuroacanthocytosis syndrome	GPathogenic
Select item 9765	NM_021083.4(XK):c.509-1G>A	XK	Single nucleotide variant (splice acceptor variant)	McLeod neuroacanthocytosis syndrome	GPathogenic
Select item 9764	NM_021083.4(XK):c.508+1G>A	XK	Single nucleotide variant (splice donor variant)	McLeod neuroacanthocytosis syndrome	GPathogenic

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Items: 21