ClinVar for Gene (Select 25873) - ClinVar - NCBI

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Links from Gene

Items: 19

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3315199	NM_033643.3(RPL36):c.275A>G (p.Asn92Ser)	RPL36 (N92S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3242628	NC_000019.9:g.(?_5691310)_(8008536_?)dup	ACER1, ACSBG2 +65 more	Duplication	not provided	GUncertain significance
Select item 3156078	NM_033643.3(RPL36):c.155C>T (p.Pro52Leu)	RPL36 (P52L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2684882	GRCh37/hg19 19p13.3-13.2(chr19:260912-7246777)x3	ABCA7, ABHD17A +202 more	Copy number gain	not provided	GPathogenic
Select item 2649117	NC_000019.10:g.5675985G>A	RPL36	Single nucleotide variant	not provided	GBenign
Select item 2589509	NM_033643.3(RPL36):c.215T>A (p.Phe72Tyr)	RPL36 (F72Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2425228	NC_000019.9:g.(?_589946)_(5696788_?)dup	TLE5, TLE6 +151 more	Duplication	not provided	GUncertain significance
Select item 1801761	NM_033643.3(RPL36):c.34A>G (p.Asn12Asp)	RPL36 (N12D)	Single nucleotide variant (missense variant)	Myoepithelial tumor	GUncertain significance
Select item 1682753	NC_000019.9:g.(?_5678562)_(5903719_?)dup	CATSPERD, DUS3L +10 more	Duplication	not provided	GUncertain significance
Select item 1411282	NC_000019.9:g.(?_5678562)_(5897028_?)dup	CATSPERD, DUS3L +10 more	Duplication	not provided	GUncertain significance
Select item 688736	GRCh37/hg19 19p13.3(chr19:5513058-5776260)x3	CATSPERD, HSD11B1L +6 more	Copy number gain	not provided	GUncertain significance
Select item 564607	GRCh37/hg19 19p13.3-13.2(chr19:3120160-9732820)x3	ACER1, ACSBG2 +165 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 253731	GRCh37/hg19 19p13.3(chr19:5680833-5739465)x3	MICOS13, LONP1 +3 more	Copy number gain	See cases	GUncertain significance
Select item 221539	GRCh37/hg19 19p13.3(chr19:5679382-5694843)x3	HSD11B1L, LONP1 +2 more	Copy number gain	Breast ductal adenocarcinoma	GUncertain significance
Select item 154560	GRCh38/hg38 19p13.3(chr19:259395-6795611)x3	LOC130062978, LOC130062979 +903 more	Copy number gain	See cases	GPathogenic
Select item 59085	GRCh38/hg38 19p13.3(chr19:4934885-6501642)x3	LOC130063249, LOC130063250 +124 more	Copy number gain	See cases	GPathogenic
Select item 59082	GRCh38/hg38 19p13.3-13.2(chr19:1972245-9648879)x3	LOC130063254, LOC130063255 +810 more	Copy number gain	See cases	GPathogenic