ClinVar for Gene (Select 10437) - ClinVar

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Links from Gene

Items: 28

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3285304	NM_006332.5(IFI30):c.580C>T (p.Arg194Trp)	IFI30 (R194W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3285303	NM_006332.5(IFI30):c.540G>A (p.Met180Ile)	IFI30 (M180I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3285302	NM_006332.5(IFI30):c.436A>G (p.Ile146Val)	IFI30 (I146V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3108134	NM_006332.5(IFI30):c.99C>G (p.Asp33Glu)	IFI30 (D33E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3108132	NM_006332.5(IFI30):c.453G>C (p.Glu151Asp)	IFI30 (E151D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2649574	NC_000019.10:g.18175086C>T	IFI30, PIK3R2 (P60L)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2649573	NM_006332.5(IFI30):c.52del (p.Asp18fs)	IFI30 (D18fs)	Deletion (frameshift variant)	not provided	GLikely benign
Select item 2608981	NM_006332.5(IFI30):c.331G>A (p.Gly111Ser)	IFI30 (G111S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2565262	NM_006332.5(IFI30):c.572A>C (p.Asn191Thr)	IFI30 (N191T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2497735	NM_006332.5(IFI30):c.550G>A (p.Gly184Ser)	IFI30 (G184S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2493854	NM_006332.5(IFI30):c.304G>A (p.Gly102Arg)	IFI30 (G102R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2475312	NM_006332.5(IFI30):c.664C>T (p.Leu222Phe)	IFI30 (L222F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2475060	NM_006332.5(IFI30):c.134C>A (p.Thr45Lys)	IFI30 (T45K)	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 2363418	NM_006332.5(IFI30):c.380A>G (p.Asn127Ser)	IFI30 (N127S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2258139	NM_006332.5(IFI30):c.463A>T (p.Met155Leu)	IFI30 (M155L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2205192	NM_006332.5(IFI30):c.691G>A (p.Gly231Ser)	IFI30 (G231S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1711476	NM_006332.5(IFI30):c.724A>T (p.Ser242Cys)	IFI30 (S242C)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 980194	GRCh37/hg19 19p13.12-12(chr19:14286624-20956753)x3	BST2, NWD1 +158 more	Copy number gain	not provided	GPathogenic
Select item 591663	NM_006332.5(IFI30):c.391-1G>A	IFI30	Single nucleotide variant (splice acceptor variant)	not provided	GUncertain significance
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 154877	GRCh38/hg38 19p13.11(chr19:18133970-18424117)x1	CIST1, GDF15 +51 more	Copy number loss	See cases	GUncertain significance
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 60074	GRCh38/hg38 19p13.11(chr19:17922234-18463153)x1	ARRDC2, CCDC124 +85 more	Copy number loss	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

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Links from Gene

Items: 28