28289[HGNC] - ClinVar

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Items: 39

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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
Select item 2598816	NM_052848.3(CCDC97):c.187G>T (p.Val63Leu)	CCDC97 (V63L)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2602788	NM_052848.3(CCDC97):c.328C>T (p.Arg110Cys)	CCDC97 (R45C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3139652	NM_052848.3(CCDC97):c.347G>A (p.Arg116His)	CCDC97 (R51H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2481022	NM_052848.3(CCDC97):c.368T>A (p.Phe123Tyr)	CCDC97 (F123Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3139653	NM_052848.3(CCDC97):c.380G>A (p.Arg127His)	CCDC97 (R127H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3139654	NM_052848.3(CCDC97):c.391C>A (p.Arg131Ser)	CCDC97 (R131S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3139655	NM_052848.3(CCDC97):c.392G>A (p.Arg131His)	CCDC97 (R66H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3139656	NM_052848.3(CCDC97):c.395C>T (p.Ala132Val)	CCDC97 (A67V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2387866	NM_052848.3(CCDC97):c.422G>A (p.Arg141Gln)	CCDC97 (R76Q +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2537305	NM_052848.3(CCDC97):c.436C>T (p.Arg146Trp)	CCDC97 (R81W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2291751	NM_052848.3(CCDC97):c.469C>T (p.Arg157Trp)	CCDC97 (R92W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2454933	NM_052848.3(CCDC97):c.508G>A (p.Glu170Lys)	CCDC97 (E105K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3139657	NM_052848.3(CCDC97):c.544C>T (p.Pro182Ser)	CCDC97 (P182S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2371757	NM_052848.3(CCDC97):c.620C>A (p.Pro207His)	CCDC97 (P142H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2411831	NM_052848.3(CCDC97):c.640G>A (p.Gly214Arg)	CCDC97 (G149R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2220146	NM_052848.3(CCDC97):c.655C>T (p.Pro219Ser)	CCDC97 (P154S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2399285	NM_052848.3(CCDC97):c.685G>A (p.Glu229Lys)	CCDC97 (E164K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3139658	NM_052848.3(CCDC97):c.767A>G (p.Asp256Gly)	CCDC97 (D191G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2538758	NM_052848.3(CCDC97):c.817C>T (p.Pro273Ser)	CCDC97 (P208S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3139659	NM_052848.3(CCDC97):c.820G>A (p.Asp274Asn)	CCDC97 (D209N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2364344	NM_052848.3(CCDC97):c.829G>A (p.Glu277Lys)	CCDC97 (E212K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2265370	NM_052848.3(CCDC97):c.857C>T (p.Thr286Ile)	CCDC97 (T221I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2292883	NM_052848.3(CCDC97):c.874C>T (p.Arg292Cys)	CCDC97 (R292C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2400788	NM_052848.3(CCDC97):c.875G>A (p.Arg292His)	CCDC97 (R227H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2371401	NM_052848.3(CCDC97):c.908A>G (p.Tyr303Cys)	CCDC97 (Y303C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2532593	NM_052848.3(CCDC97):c.925A>G (p.Asn309Asp)	CCDC97 (N244D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2321481	NM_052848.3(CCDC97):c.931G>A (p.Asp311Asn)	CCDC97 (D246N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2551564	NM_052848.3(CCDC97):c.937G>A (p.Asp313Asn)	CCDC97 (D248N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2511053	NM_052848.3(CCDC97):c.952G>A (p.Val318Met)	CCDC97 (V253M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2318089	NM_052848.3(CCDC97):c.1001A>G (p.Asp334Gly)	CCDC97 (D269G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3139651	NM_052848.3(CCDC97):c.1002T>A (p.Asp334Glu)	CCDC97 (D269E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2336299	NM_052848.3(CCDC97):c.1012C>A (p.Pro338Thr)	CCDC97 (P273T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2423350	NC_000019.9:g.(?_39904727)_(42931301_?)dup	ACTMAP, AKT2 +84 more	Duplication	Diamond-Blackfan anemia +3 more	GUncertain significance
Select item 816082	GRCh37/hg19 19q13.2(chr19:41304025-41928997)x3	B9D2, CYP2S1 +13 more	Copy number gain	not provided	GUncertain significance
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

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Items: 39