13930[HGNC] - ClinVar

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Items: 60

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155430	GRCh38/hg38 6p25.3-12.3(chr6:156974-46789291)x3	ILRUN-AS1, IP6K3 +2582 more	Copy number gain	See cases	GPathogenic
Select item 3264449	NM_001105564.2(CCHCR1):c.2581A>G (p.Arg861Gly)	CCHCR1 (R769G +7 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2461787	NM_001105564.2(CCHCR1):c.2573A>G (p.Asn858Ser)	CCHCR1 (N733S +7 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2365400	NM_001105564.2(CCHCR1):c.2570A>G (p.Asp857Gly)	CCHCR1 (D765G +7 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3139673	NM_001105564.2(CCHCR1):c.2351G>A (p.Arg784His)	CCHCR1 (R576H +7 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2397976	NM_001105564.2(CCHCR1):c.2282G>A (p.Arg761His)	CCHCR1 (R553H +7 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2521742	NM_001105564.2(CCHCR1):c.2281C>T (p.Arg761Cys)	CCHCR1 (R646C +7 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2216599	NM_001105564.2(CCHCR1):c.2270G>A (p.Arg757Gln)	CCHCR1 (R549Q +7 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2302683	NM_001105564.2(CCHCR1):c.2259G>C (p.Glu753Asp)	CCHCR1 (E628D +7 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2279546	NM_001105564.2(CCHCR1):c.2252G>A (p.Arg751Gln)	CCHCR1 (R636Q +7 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2362723	NM_001105564.2(CCHCR1):c.2180G>A (p.Arg727His)	CCHCR1 (R638H +7 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3139672	NM_001105564.2(CCHCR1):c.2125G>A (p.Glu709Lys)	CCHCR1 (E501K +7 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2399463	NM_001105564.2(CCHCR1):c.2114T>C (p.Leu705Pro)	CCHCR1 (L669P +7 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2411012	NM_001105564.2(CCHCR1):c.2098C>T (p.Arg700Trp)	CCHCR1 (R492W +7 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2292360	NM_001105564.2(CCHCR1):c.2098C>G (p.Arg700Gly)	CCHCR1 (R608G +7 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2513471	NM_001105564.2(CCHCR1):c.2059G>C (p.Gly687Arg)	CCHCR1 (G479R +7 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 1291637	NM_001105564.2(CCHCR1):c.1990G>T (p.Gly664Cys)	CCHCR1 (G456C +7 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2231084	NM_001105564.2(CCHCR1):c.1984C>T (p.Arg662Cys)	CCHCR1 (R454C +7 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3139671	NM_001105564.2(CCHCR1):c.1837C>T (p.Arg613Cys)	CCHCR1 (R613C +7 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2390177	NM_001105564.2(CCHCR1):c.1793G>A (p.Arg598Gln)	CCHCR1 (R483Q +7 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2220701	NM_001105564.2(CCHCR1):c.1717C>T (p.Leu573Phe)	CCHCR1 (L537F +7 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3264444	NM_001105564.2(CCHCR1):c.1678G>T (p.Val560Phe)	CCHCR1 (V560F +7 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2263952	NM_001105564.2(CCHCR1):c.1655G>A (p.Arg552Gln)	CCHCR1 (R437Q +7 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2547726	NM_001105564.2(CCHCR1):c.1652A>G (p.Asn551Ser)	CCHCR1 (N560S +7 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3264446	NM_001105564.2(CCHCR1):c.1649A>G (p.Asn550Ser)	CCHCR1 (N458S +7 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3264448	NM_001105564.2(CCHCR1):c.1583C>G (p.Ser528Cys)	CCHCR1 (S439C +7 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2316413	NM_001105564.2(CCHCR1):c.1538C>T (p.Ser513Leu)	CCHCR1 (S305L +7 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3264445	NM_001105564.2(CCHCR1):c.1513C>T (p.Arg505Cys)	CCHCR1 (R297C +7 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2253794	NM_001105564.2(CCHCR1):c.1441G>A (p.Ala481Thr)	CCHCR1 (A366T +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3139670	NM_001105564.2(CCHCR1):c.1438G>T (p.Ala480Ser)	CCHCR1 (A365S +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3139669	NM_001105564.2(CCHCR1):c.1420C>G (p.Arg474Gly)	CCHCR1 (R266G +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3139668	NM_001105564.2(CCHCR1):c.1331A>T (p.His444Leu)	CCHCR1 (H236L +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3139667	NM_001105564.2(CCHCR1):c.1292T>C (p.Phe431Ser)	CCHCR1 (F223S +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3139666	NM_001105564.2(CCHCR1):c.1202T>C (p.Leu401Pro)	CCHCR1 (L193P +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2368917	NM_001105564.2(CCHCR1):c.1076G>A (p.Arg359Gln)	CCHCR1 (R151Q +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2254407	NM_001105564.2(CCHCR1):c.953G>A (p.Arg318Gln)	CCHCR1 (R110Q +6 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3264447	NM_001105564.2(CCHCR1):c.787C>G (p.Leu263Val)	CCHCR1 (L138V +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3264443	NM_001105564.2(CCHCR1):c.707G>A (p.Arg236His)	CCHCR1 (R236H +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2410301	NM_001105564.2(CCHCR1):c.700G>T (p.Gly234Cys)	CCHCR1 (G198C +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2235475	NM_001105564.2(CCHCR1):c.671C>T (p.Ala224Val)	CCHCR1 (A109V +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2554903	NM_001105564.2(CCHCR1):c.668G>A (p.Arg223Gln)	CCHCR1 (R232Q +6 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 768073	NM_001105564.2(CCHCR1):c.667C>T (p.Arg223Trp)	CCHCR1 (R134W +6 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2555775	NM_001105564.2(CCHCR1):c.604G>A (p.Glu202Lys)	CCHCR1 (E166K +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1283507	NM_001105564.2(CCHCR1):c.592C>T (p.Arg198Trp)	CCHCR1 (R109W +5 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2327336	NM_001105564.2(CCHCR1):c.582G>T (p.Glu194Asp)	CCHCR1 (E194D +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1242555	NM_001105564.2(CCHCR1):c.574C>T (p.Arg192Trp)	CCHCR1 (R103W +5 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2339983	NM_001105564.2(CCHCR1):c.550G>A (p.Val184Ile)	CCHCR1 (V193I +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2293953	NM_001105564.2(CCHCR1):c.454C>T (p.Arg152Trp)	CCHCR1 (R152W +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2614750	NM_001105564.2(CCHCR1):c.415C>G (p.Arg139Gly)	CCHCR1 (R148G +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2301327	NM_001105564.2(CCHCR1):c.289A>C (p.Thr97Pro)	CCHCR1 (T8P +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2268937	NM_001105564.2(CCHCR1):c.229G>T (p.Gly77Cys)	CCHCR1 (G86C +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2550793	NM_001105564.2(CCHCR1):c.227A>G (p.Asp76Gly)	CCHCR1 (D85G +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2427350	NC_000006.11:g.(?_30695893)_(36953949_?)dup	ABHD16A, AGER +172 more	Duplication	Proteasome-associated autoinflammatory syndrome 1	GUncertain significance
Select item 2424220	NC_000006.11:g.(?_30695893)_(31937492_?)dup	ABHD16A, AIF1 +63 more	Duplication	not provided	GUncertain significance
Select item 974733	NC_000006.11:g.28005012_31683185del	ABCF1, ABHD16A +106 more	Deletion	Megacolon	GLikely pathogenic
Select item 814807	GRCh37/hg19 6p21.33-21.31(chr6:31036397-34088832)x3	ABHD16A, AGER +117 more	Copy number gain	not provided	GLikely pathogenic
Select item 625706	GRCh37/hg19 6p22.1-q14.1(chr6:29455465-81447367)	ERVH-3, ETV7 +427 more	Copy number gain	not provided	GPathogenic
Select item 443497	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)	AARS2, ABCC10 +1028 more	Copy number gain	See cases	GPathogenic
Select item 443496	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3	RING1, RIOK1 +1028 more	Copy number gain	See cases	GPathogenic
Select item 221339	Single allele	CCHCR1, CDSN +6 more	Complex	Breast ductal adenocarcinoma	GUncertain significance

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Items: 60