6234[geneid] - ClinVar

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Items: 36

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59082	GRCh38/hg38 19p13.3-13.2(chr19:1972245-9648879)x3	LOC130063254, LOC130063255 +810 more	Copy number gain	See cases	GPathogenic
Select item 545228	Single allele	ZNF562, ZNF699 +132 more	Duplication	Autism	GLikely pathogenic
Select item 1224045	NC_000019.10:g.8321172G>C	NDUFA7, RPS28	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1265048	NC_000019.10:g.8321175T>G	RPS28, NDUFA7	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1276445	NC_000019.10:g.8321422G>A	RPS28	Single nucleotide variant	not provided	GBenign
Select item 1257584	NC_000019.10:g.8321483C>T	RPS28	Single nucleotide variant	not provided	GBenign
Select item 187848	NM_001031.5(RPS28):c.1A>G (p.Met1Val)	RPS28 (M1V)	Single nucleotide variant (missense variant +1 more)	Diamond-Blackfan anemia 15 with mandibulofacial dysostosis	GPathogenic
Select item 2056150	NM_001031.5(RPS28):c.6C>T (p.Asp2=)	RPS28	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2916205	NM_001031.5(RPS28):c.7A>G (p.Thr3Ala)	RPS28 (T3A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2026349	NM_001031.5(RPS28):c.12C>T (p.Ser4=)	RPS28	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2702974	NM_001031.5(RPS28):c.15T>C (p.Arg5=)	RPS28	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2760399	NM_001031.5(RPS28):c.33G>A (p.Leu11=)	RPS28	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2798271	NM_001031.5(RPS28):c.39+20T>C	RPS28	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1971128	NM_001031.5(RPS28):c.39+20T>G	RPS28	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2867901	NM_001031.5(RPS28):c.40-14C>T	RPS28	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2155844	NM_001031.5(RPS28):c.40-7C>T	RPS28	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2835784	NM_001031.5(RPS28):c.51C>T (p.Val17=)	RPS28	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 668538	NM_001031.5(RPS28):c.87+6C>T	RPS28	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2896698	NM_001031.5(RPS28):c.87+7G>T	RPS28	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1268375	NM_001031.5(RPS28):c.87+75T>C	RPS28	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1181154	NM_001031.5(RPS28):c.87+114G>A	RPS28	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2793487	NM_001031.5(RPS28):c.114G>T (p.Thr38=)	RPS28	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2897022	NM_001031.5(RPS28):c.147C>G (p.Pro49=)	RPS28	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2881770	NM_001031.5(RPS28):c.157G>A (p.Gly53Ser)	RPS28 (G53S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2649195	NM_001031.5(RPS28):c.202T>C (p.Leu68=)	RPS28	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2192744	NM_001031.5(RPS28):c.204G>A (p.Leu68=)	RPS28	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1244664	NM_001031.5(RPS28):c.*16+23T>C	RPS28	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1252932	NM_001031.5(RPS28):c.*68G>A	RPS28	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 3287331	NM_198471.3(KANK3):c.2389T>C (p.Ser797Pro)	KANK3, RPS28 (S797P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2343353	NM_198471.3(KANK3):c.2386G>A (p.Glu796Lys)	KANK3, RPS28 (E796K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3242658	NC_000019.9:g.(?_8376389)_(8386959_?)dup	NDUFA7, RPS28	Duplication	not provided	GUncertain significance
Select item 2426563	NC_000019.9:g.(?_7586521)_(8670595_?)dup	ADAMTS10, ANGPTL4 +35 more	Duplication	Mucolipidosis type IV	GUncertain significance
Select item 816064	GRCh37/hg19 19p13.2(chr19:7657490-8569762)x3	ANGPTL4, CAMSAP3 +30 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

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Items: 36