Related gene-specific medical variations for Gene (Select 84983) - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 45

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 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 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 2643282	NM_032829.3(FAM222A):c.1312C>T (p.Leu438=)	FAM222A, FAM222A-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 2353338	NM_032829.3(FAM222A):c.1043C>T (p.Pro348Leu)	FAM222A, FAM222A-AS1 (P348L)	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 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 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 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 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 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 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 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 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 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 791093	NM_032829.3(FAM222A):c.1137G>A (p.Glu379=)	FAM222A, FAM222A-AS1	Single nucleotide variant (synonymous variant)	not provided	GBenign
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 731951	NM_032829.3(FAM222A):c.438G>A (p.Ala146=)	FAM222A, FAM222A-AS1	Single nucleotide variant (synonymous variant)	not provided	GBenign
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 402150	NM_032829.3(FAM222A):c.284A>T (p.His95Leu)	FAM222A, FAM222A-AS1 (H95L)	Single nucleotide variant (missense variant)	Abnormal brain morphology	GLikely pathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from Gene

Items: 45