ClinVar for Gene (Select 25804) - ClinVar - NCBI

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Links from Gene

Items: 16

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3292165	NM_012321.5(LSM4):c.297G>C (p.Gln99His)	LSM4 (Q99H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3121325	NM_012321.5(LSM4):c.306C>T (p.Arg102=)	LSM4	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 2552360	NM_012321.5(LSM4):c.320C>G (p.Ala107Gly)	LSM4 (A107G +1 more)	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 2336268	NM_012321.5(LSM4):c.263G>A (p.Arg88His)	LSM4 (R74H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2228318	NM_012321.5(LSM4):c.112A>G (p.Ile38Val)	LSM4 (I24V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1526658	GRCh37/hg19 19p13.11(chr19:18327675-18543341)	GDF15, IQCN +6 more	Copy number gain	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 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