25915[HGNC] - ClinVar

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Items: 59

	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 57157	GRCh38/hg38 12q23.3-24.13(chr12:105234677-112194686)x1	LOC130008692, LOC130008693 +316 more	Copy number loss	See cases	GPathogenic
Select item 3092324	NM_032829.3(FAM222A):c.43C>T (p.His15Tyr)	FAM222A, FAM222A-AS1 (H15Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2334270	NM_032829.3(FAM222A):c.53G>A (p.Cys18Tyr)	FAM222A, FAM222A-AS1 (C18Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2381759	NM_032829.3(FAM222A):c.56C>G (p.Pro19Arg)	FAM222A, FAM222A-AS1 (P19R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2310381	NM_032829.3(FAM222A):c.83G>A (p.Cys28Tyr)	FAM222A, FAM222A-AS1 (C28Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3092325	NM_032829.3(FAM222A):c.88G>T (p.Ala30Ser)	FAM222A, FAM222A-AS1 (A30S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2469363	NM_032829.3(FAM222A):c.103A>G (p.Met35Val)	FAM222A, FAM222A-AS1 (M35V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2349823	NM_032829.3(FAM222A):c.146A>T (p.Tyr49Phe)	FAM222A, FAM222A-AS1 (Y49F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2593570	NM_032829.3(FAM222A):c.202C>T (p.Arg68Cys)	FAM222A, FAM222A-AS1 (R68C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2387207	NM_032829.3(FAM222A):c.229C>T (p.Arg77Cys)	FAM222A, FAM222A-AS1 (R77C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2255422	NM_032829.3(FAM222A):c.262C>A (p.Arg88Ser)	FAM222A, FAM222A-AS1 (R88S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2527724	NM_032829.3(FAM222A):c.283C>T (p.His95Tyr)	FAM222A, FAM222A-AS1 (H95Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 402150	NM_032829.3(FAM222A):c.284A>T (p.His95Leu)	FAM222A, FAM222A-AS1 (H95L)	Single nucleotide variant (missense variant)	Abnormal brain morphology	GLikely pathogenic
Select item 2618682	NM_032829.3(FAM222A):c.285C>G (p.His95Gln)	FAM222A, FAM222A-AS1 (H95Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2390797	NM_032829.3(FAM222A):c.329T>C (p.Val110Ala)	FAM222A, FAM222A-AS1 (V110A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2466560	NM_032829.3(FAM222A):c.400A>G (p.Thr134Ala)	FAM222A, FAM222A-AS1 (T134A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2546480	NM_032829.3(FAM222A):c.421G>A (p.Val141Met)	FAM222A, FAM222A-AS1 (V141M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 731951	NM_032829.3(FAM222A):c.438G>A (p.Ala146=)	FAM222A, FAM222A-AS1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3277385	NM_032829.3(FAM222A):c.469T>G (p.Leu157Val)	FAM222A, FAM222A-AS1 (L157V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3277387	NM_032829.3(FAM222A):c.496C>T (p.Pro166Ser)	FAM222A, FAM222A-AS1 (P166S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2222437	NM_032829.3(FAM222A):c.547C>T (p.Pro183Ser)	FAM222A, FAM222A-AS1 (P183S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2412111	NM_032829.3(FAM222A):c.560G>A (p.Arg187Gln)	FAM222A, FAM222A-AS1 (R187Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2529825	NM_032829.3(FAM222A):c.578C>A (p.Pro193His)	FAM222A, FAM222A-AS1 (P193H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2229091	NM_032829.3(FAM222A):c.622C>G (p.Gln208Glu)	FAM222A, FAM222A-AS1 (Q208E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2590194	NM_032829.3(FAM222A):c.646G>A (p.Ala216Thr)	FAM222A, FAM222A-AS1 (A216T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3277386	NM_032829.3(FAM222A):c.665G>A (p.Gly222Asp)	FAM222A, FAM222A-AS1 (G222D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2242784	NM_032829.3(FAM222A):c.689C>T (p.Pro230Leu)	FAM222A, FAM222A-AS1 (P230L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2619920	NM_032829.3(FAM222A):c.760C>T (p.Arg254Trp)	FAM222A, FAM222A-AS1 (R254W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2591434	NM_032829.3(FAM222A):c.844G>A (p.Gly282Ser)	FAM222A, FAM222A-AS1 (G282S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2327907	NM_032829.3(FAM222A):c.854A>G (p.Tyr285Cys)	FAM222A, FAM222A-AS1 (Y285C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 710609	NM_032829.3(FAM222A):c.876G>A (p.Pro292=)	FAM222A, FAM222A-AS1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2589804	NM_032829.3(FAM222A):c.896C>T (p.Pro299Leu)	FAM222A, FAM222A-AS1 (P299L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2354416	NM_032829.3(FAM222A):c.902G>A (p.Arg301His)	FAM222A, FAM222A-AS1 (R301H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3092326	NM_032829.3(FAM222A):c.956G>A (p.Arg319Gln)	FAM222A, FAM222A-AS1 (R319Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2643281	NM_032829.3(FAM222A):c.1038G>A (p.Ala346=)	FAM222A, FAM222A-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2353338	NM_032829.3(FAM222A):c.1043C>T (p.Pro348Leu)	FAM222A-AS1, FAM222A (P348L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2389710	NM_032829.3(FAM222A):c.1078T>A (p.Cys360Ser)	FAM222A, FAM222A-AS1 (C360S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3277388	NM_032829.3(FAM222A):c.1085A>T (p.Asn362Ile)	FAM222A, FAM222A-AS1 (N362I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2402627	NM_032829.3(FAM222A):c.1091C>T (p.Ala364Val)	FAM222A, FAM222A-AS1 (A364V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3092321	NM_032829.3(FAM222A):c.1109C>T (p.Thr370Met)	FAM222A, FAM222A-AS1 (T370M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3092322	NM_032829.3(FAM222A):c.1121C>T (p.Pro374Leu)	FAM222A, FAM222A-AS1 (P374L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2409379	NM_032829.3(FAM222A):c.1133G>A (p.Arg378Gln)	FAM222A, FAM222A-AS1 (R378Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 791093	NM_032829.3(FAM222A):c.1137G>A (p.Glu379=)	FAM222A, FAM222A-AS1	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 2521184	NM_032829.3(FAM222A):c.1166C>T (p.Ser389Leu)	FAM222A, FAM222A-AS1 (S389L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2311395	NM_032829.3(FAM222A):c.1183A>T (p.Ser395Cys)	FAM222A, FAM222A-AS1 (S395C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2589043	NM_032829.3(FAM222A):c.1310G>A (p.Arg437Gln)	FAM222A, FAM222A-AS1 (R437Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2643282	NM_032829.3(FAM222A):c.1312C>T (p.Leu438=)	FAM222A, FAM222A-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2213664	NM_032829.3(FAM222A):c.1323C>G (p.His441Gln)	FAM222A, FAM222A-AS1 (H441Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2491321	NM_032829.3(FAM222A):c.1339C>G (p.Arg447Gly)	FAM222A, FAM222A-AS1 (R447G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 732538	NM_032829.3(FAM222A):c.1344A>G (p.Leu448=)	FAM222A, FAM222A-AS1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3277384	NM_032829.3(FAM222A):c.1348G>A (p.Val450Ile)	FAM222A, FAM222A-AS1 (V450I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1527730	GRCh37/hg19 12q23.2-24.11(chr12:103044333-111639805)	ABTB3, ACACB +74 more	Copy number loss	not specified	GLikely pathogenic
Select item 1340640	GRCh37/hg19 12q23.3-24.12(chr12:104230462-111984801)x1	ABTB3, ACACB +73 more	Copy number loss	not provided	GPathogenic
Select item 980454	GRCh37/hg19 12q23.3-24.12(chr12:106498814-112252906)x1	ABTB3, ACACB +60 more	Copy number loss	not provided	GPathogenic
Select item 815553	GRCh37/hg19 12q24.11(chr12:109199902-110267493)x3	UBE3B, FOXN4 +13 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: 59