29917[HGNC] - ClinVar

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Items: 64

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	ACAD10, ACADS +4836 more	Copy number gain	See cases	GPathogenic
Select item 154378	GRCh38/hg38 12q14.3-15(chr12:65445176-71026337)x1	IL22, BEST3 +163 more	Copy number loss	See cases	GPathogenic
Select item 146282	GRCh38/hg38 12q15-21.2(chr12:68011417-75383054)x1	ATXN7L3B, BEST3 +141 more	Copy number loss	See cases	GLikely pathogenic
Select item 2521026	NM_001354969.2(MDM1):c.2114G>A (p.Arg705Gln)	MDM1 (R660Q +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2357695	NM_001354969.2(MDM1):c.2113C>T (p.Arg705Trp)	MDM1 (R655W +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2224050	NM_001354969.2(MDM1):c.2093G>A (p.Arg698His)	MDM1 (R418H +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3124608	NM_001354969.2(MDM1):c.2021A>G (p.Asn674Ser)	MDM1 (N384S +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2392984	NM_001354969.2(MDM1):c.1999A>G (p.Asn667Asp)	MDM1 (N377D +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3124607	NM_001354969.2(MDM1):c.1913A>G (p.Gln638Arg)	MDM1 (Q628R +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2597771	NM_001354969.2(MDM1):c.1904C>A (p.Pro635His)	MDM1 (P585H +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2289615	NM_001354969.2(MDM1):c.1900A>C (p.Asn634His)	MDM1 (N344H +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2619666	NM_001354969.2(MDM1):c.1897A>G (p.Thr633Ala)	MDM1 (T343A +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2260001	NM_001354969.2(MDM1):c.1850A>C (p.Lys617Thr)	MDM1 (K327T +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3124606	NM_001354969.2(MDM1):c.1822C>T (p.Arg608Trp)	MDM1 (R328W +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2543748	NM_001354969.2(MDM1):c.1759C>T (p.Arg587Cys)	MDM1 (R537C +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2337071	NM_001354969.2(MDM1):c.1713G>C (p.Gln571His)	MDM1 (Q521H +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3293844	NM_001354969.2(MDM1):c.1682C>T (p.Ala561Val)	MDM1 (A271V +5 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3293845	NM_001354969.2(MDM1):c.1642G>A (p.Gly548Ser)	MDM1 (G498S +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3124605	NM_001354969.2(MDM1):c.1634C>T (p.Ala545Val)	MDM1 (A535V +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2245964	NM_001354969.2(MDM1):c.1495C>T (p.Arg499Cys)	MDM1 (R454C +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2366473	NM_001354969.2(MDM1):c.1453G>A (p.Gly485Ser)	MDM1 (G205S +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2552526	NM_001354969.2(MDM1):c.1423G>A (p.Asp475Asn)	MDM1 (D465N +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3124603	NM_001354969.2(MDM1):c.1421A>G (p.Asp474Gly)	MDM1 (D194G +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3124602	NM_001354969.2(MDM1):c.1419G>C (p.Glu473Asp)	MDM1 (E423D +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2551117	NM_001354969.2(MDM1):c.1355T>G (p.Leu452Arg)	MDM1 (L172R +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2464497	NM_001354969.2(MDM1):c.1307C>T (p.Thr436Met)	MDM1 (T146M +5 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2406374	NM_001354969.2(MDM1):c.1306A>G (p.Thr436Ala)	MDM1 (T386A +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3024764	NM_001354969.2(MDM1):c.1278C>T (p.Ile426=)	MDM1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3124601	NM_001354969.2(MDM1):c.1262A>C (p.Glu421Ala)	MDM1 (E421A +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2578021	NM_001354969.2(MDM1):c.1227dup (p.Lys410Ter)	MDM1 (K120* +5 more)	Duplication (nonsense)	Neurodevelopmental disorder +1 more	GUncertain significance
Select item 2609871	NM_001354969.2(MDM1):c.1163G>T (p.Ser388Ile)	MDM1 (S343I +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2643167	NM_001354969.2(MDM1):c.1122A>G (p.Leu374=)	MDM1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2272671	NM_001354969.2(MDM1):c.1055A>C (p.Lys352Thr)	MDM1 (K302T +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3124614	NM_001354969.2(MDM1):c.942C>A (p.Ser314Arg)	MDM1 (S264R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3124613	NM_001354969.2(MDM1):c.919G>A (p.Glu307Lys)	MDM1 (E262K +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3124612	NM_001354969.2(MDM1):c.859C>T (p.His287Tyr)	MDM1 (H237Y +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2481203	NM_001354969.2(MDM1):c.855C>A (p.Asp285Glu)	MDM1 (D5E +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 741084	NM_001354969.2(MDM1):c.821G>A (p.Arg274His)	MDM1 (R224H +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2214467	NM_001354969.2(MDM1):c.820C>G (p.Arg274Gly)	MDM1 (R224G +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3124611	NM_001354969.2(MDM1):c.610G>C (p.Ala204Pro)	MDM1 (A204P)	Single nucleotide variant (3 prime UTR variant +3 more)	not specified	GUncertain significance
Select item 2380450	NM_001354969.2(MDM1):c.608C>A (p.Thr203Asn)	MDM1 (T203N)	Single nucleotide variant (3 prime UTR variant +3 more)	not specified	GUncertain significance
Select item 2477196	NM_001354969.2(MDM1):c.548A>G (p.Tyr183Cys)	MDM1 (Y183C)	Single nucleotide variant (3 prime UTR variant +3 more)	not specified	GLikely benign
Select item 3293843	NM_001354969.2(MDM1):c.535G>A (p.Val179Ile)	MDM1 (V179I)	Single nucleotide variant (3 prime UTR variant +3 more)	not specified	GUncertain significance
Select item 2609872	NM_001354969.2(MDM1):c.515G>C (p.Arg172Pro)	MDM1 (R172P)	Single nucleotide variant (3 prime UTR variant +3 more)	not specified	GUncertain significance
Select item 1247123	NM_001354969.2(MDM1):c.308C>T (p.Thr103Ile)	MDM1 (T103I +1 more)	Single nucleotide variant (missense variant +3 more)	not provided	GBenign
Select item 2477520	NM_001354969.2(MDM1):c.301G>A (p.Asp101Asn)	MDM1 (D96N +1 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2256338	NM_001354969.2(MDM1):c.292G>A (p.Glu98Lys)	MDM1 (E93K +1 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 3124609	NM_001354969.2(MDM1):c.284A>G (p.Gln95Arg)	MDM1 (Q95R +1 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2473552	NM_001354969.2(MDM1):c.266C>G (p.Pro89Arg)	MDM1 (P84R +1 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2366575	NM_001354969.2(MDM1):c.256C>T (p.Pro86Ser)	MDM1 (P81S +1 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2382254	NM_001354969.2(MDM1):c.236A>G (p.Asn79Ser)	MDM1 (N79S +1 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 3124604	NM_001354969.2(MDM1):c.152G>T (p.Ser51Ile)	MDM1 (S51I +1 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2371901	NM_001354969.2(MDM1):c.16A>G (p.Lys6Glu)	MDM1 (K6E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3124600	NM_001354969.2(MDM1):c.10C>G (p.Arg4Gly)	MDM1 (R4G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2685437	GRCh37/hg19 12q14.1-15(chr12:61755618-70035424)x1	AVPR1A, C12orf56 +40 more	Copy number loss	not provided	GPathogenic
Select item 1879249	GRCh37/hg19 12q14.2-15(chr12:64609458-70352103)x1	BEST3, C12orf56 +34 more	Copy number loss	not provided	GPathogenic
Select item 1340548	GRCh37/hg19 12q15(chr12:68537457-68698086)x3	IFNG, IL22 +2 more	Copy number gain	not provided	GUncertain significance
Select item 1340105	GRCh37/hg19 12q14.3-15(chr12:66045645-68872343)x1	CAND1, DYRK2 +10 more	Copy number loss	not provided	GPathogenic
Select item 1180525	GRCh37/hg19 12q14.3-21.1(chr12:65251705-75263379)x1	CAND1, RAB3IP +42 more	Copy number loss	not provided	GPathogenic
Select item 980441	GRCh37/hg19 12q15(chr12:68572386-70833868)x1	BEST3, CCT2 +17 more	Copy number loss	not provided	GPathogenic
Select item 563911	GRCh37/hg19 12q15(chr12:68537456-68698086)x3	IFNG, IL22 +2 more	Copy number gain	not provided	GUncertain significance
Select item 441984	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)	SLC15A5, SLC16A7 +1006 more	Copy number gain	See cases	GPathogenic
Select item 441983	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3	A2M, A2ML1 +1006 more	Copy number gain	See cases	GPathogenic
Select item 268075	GRCh37/hg19 12p13.33-q24.33(chr12:1-133851895)x3	GALNT8, H2AJ +1007 more	Copy number gain	See cases	GPathogenic

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Items: 64