ClinVar for Gene (Select 6217) - ClinVar - NCBI

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Links from Gene

Items: 17

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3156183	NM_001020.6(RPS16):c.11A>G (p.Lys4Arg)	RPS16 (K4R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062386	GRCh37/hg19 19q11-13.2(chr19:28271146-41508851)x3	SLC7A9, SNRPA +215 more	Copy number gain	not specified	GPathogenic
Select item 2617931	NM_001020.6(RPS16):c.413G>A (p.Arg138His)	RPS16 (R121H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2478178	NM_001020.6(RPS16):c.51G>T (p.Lys17Asn)	RPS16 (K17N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2424211	NC_000019.9:g.(?_39205089)_(40913839_?)dup	CAPN12, CCNP +53 more	Duplication	not provided	GUncertain significance
Select item 2423350	NC_000019.9:g.(?_39904727)_(42931301_?)dup	CEACAM21, CEACAM3 +84 more	Duplication	Maple syrup urine disease +3 more	GUncertain significance
Select item 2354104	NM_001020.6(RPS16):c.133C>T (p.Arg45Cys)	RPS16 (R45C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2280285	NM_001020.6(RPS16):c.250A>C (p.Ile84Leu)	RPS16 (I67L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1330177	GRCh37/hg19 19p13.11-q13.2(chr19:19546923-41313229)x3	ACP7, ACTMAP +255 more	Copy number gain	Specific learning disability	GPathogenic
Select item 781484	NM_001020.6(RPS16):c.369C>T (p.Asp123=)	RPS16	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 685025	GRCh37/hg19 19q11-13.33(chr19:28271106-49213832)x3	ACP7, ACTMAP +434 more	Copy number gain	not provided	GPathogenic
Select item 443499	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)	BICRA, BLOC1S3 +1364 more	Copy number gain	See cases	GPathogenic
Select item 443498	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3	A1BG, ABCA7 +1364 more	Copy number gain	See cases	GPathogenic
Select item 253452	GRCh37/hg19 19q13.12-13.2(chr19:37582250-41630908)x3	DPF1, DYRK1B +105 more	Copy number gain	See cases	GPathogenic
Select item 221542	GRCh37/hg19 19q13.2(chr19:39879621-39944079)x3	MED29, PAF1 +4 more	Copy number gain	Breast ductal adenocarcinoma	GUncertain significance
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 57043	GRCh38/hg38 19q13.12-13.2(chr19:37319377-42738688)x3	ACP7, ACTMAP +514 more	Copy number gain	See cases	GPathogenic