ClinVar for Gene (Select 7311) - ClinVar - NCBI

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Links from Gene

Items: 19

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3117197	NM_024069.4(KXD1):c.494G>A (p.Arg165His)	KXD1, UBA52 (R165H)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3117196	NM_024069.4(KXD1):c.464T>G (p.Val155Gly)	KXD1, UBA52 (V155G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3117195	NM_024069.4(KXD1):c.181G>A (p.Glu61Lys)	KXD1, UBA52 (E61K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2425279	NC_000019.9:g.(?_17927663)_(19312528_?)dup	ISYNA1, JAK3 +44 more	Duplication	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1	GUncertain significance
Select item 2407316	NM_001033930.3(UBA52):c.148C>G (p.Leu50Val)	UBA52 (L57V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2403407	NM_024069.4(KXD1):c.224G>A (p.Arg75Gln)	KXD1, UBA52 (R75Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2364221	NM_024069.4(KXD1):c.503C>G (p.Thr168Arg)	KXD1, UBA52 (T168R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2348615	NM_024069.4(KXD1):c.442G>A (p.Gly148Ser)	KXD1, UBA52 (G148S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2337724	NM_001033930.3(UBA52):c.68T>C (p.Ile23Thr)	UBA52 (I23T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2337091	NM_024069.4(KXD1):c.437G>T (p.Ser146Ile)	KXD1, UBA52 (S146I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2286939	NM_024069.4(KXD1):c.235A>G (p.Ser79Gly)	KXD1, UBA52 (S79G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2239004	NM_024069.4(KXD1):c.518T>G (p.Met173Arg)	KXD1, UBA52 (M173R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 980194	GRCh37/hg19 19p13.12-12(chr19:14286624-20956753)x3	BST2, NWD1 +158 more	Copy number gain	not provided	GPathogenic
Select item 443499	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)	PGLYRP1, PGLYRP2 +1364 more	Copy number gain	See cases	GPathogenic
Select item 443498	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3	TMC4, TMED1 +1364 more	Copy number gain	See cases	GPathogenic
Select item 147522	GRCh38/hg38 19p13.12-12(chr19:15133594-24193591)x3	ABHD8, AKAP8 +574 more	Copy number gain	See cases	GPathogenic
Select item 144406	GRCh38/hg38 19p13.2-q13.31(chr19:11227942-44626354)x3	ABHD8, ACP5 +2135 more	Copy number gain	See cases	GPathogenic
Select item 59114	GRCh38/hg38 19p13.12-q11(chr19:13974677-27839676)x3	ABHD8, ADGRE2 +695 more	Copy number gain	See cases	GPathogenic
Select item 57042	GRCh38/hg38 19p13.11-q13.11(chr19:17176767-34924150)x3	LOC130064154, LOC130064155 +625 more	Copy number gain	See cases	GPathogenic