ClinVar for Gene (Select 113828) - ClinVar

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

Links from Gene

Items: 73

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3277531	NM_138435.4(FAM83F):c.1358C>A (p.Pro453His)	FAM83F (P453H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3277530	NM_138435.4(FAM83F):c.988G>C (p.Val330Leu)	FAM83F (V330L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3277529	NM_138435.4(FAM83F):c.127G>A (p.Glu43Lys)	FAM83F (E43K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3277528	NM_138435.4(FAM83F):c.1469G>A (p.Ser490Asn)	FAM83F (S490N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3247951	NC_000022.10:g.(?_39306081)_(41904073_?)dup	ACO2, ADSL +42 more	Duplication	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency	GUncertain significance
Select item 3092615	NM_138435.4(FAM83F):c.988G>A (p.Val330Met)	FAM83F (V330M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3092614	NM_138435.4(FAM83F):c.932G>A (p.Gly311Asp)	FAM83F (G311D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3092613	NM_138435.4(FAM83F):c.794C>G (p.Ser265Cys)	FAM83F (S265C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3092611	NM_138435.4(FAM83F):c.544G>A (p.Val182Met)	FAM83F (V182M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3092610	NM_138435.4(FAM83F):c.373G>A (p.Asp125Asn)	FAM83F (D125N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3092609	NM_138435.4(FAM83F):c.223G>A (p.Glu75Lys)	FAM83F (E75K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3092608	NM_138435.4(FAM83F):c.1428C>A (p.Asn476Lys)	FAM83F (N476K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3092607	NM_138435.4(FAM83F):c.1390A>G (p.Thr464Ala)	FAM83F (T464A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3092606	NM_138435.4(FAM83F):c.1339G>T (p.Ala447Ser)	FAM83F (A447S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3092605	NM_138435.4(FAM83F):c.122G>A (p.Gly41Asp)	FAM83F (G41D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3092604	NM_138435.4(FAM83F):c.1221G>C (p.Met407Ile)	FAM83F (M407I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3092603	NM_138435.4(FAM83F):c.1159C>T (p.Pro387Ser)	FAM83F (P387S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3092602	NM_138435.4(FAM83F):c.1109G>A (p.Arg370His)	FAM83F (R370H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3092601	NM_138435.4(FAM83F):c.1094G>A (p.Gly365Asp)	FAM83F (G365D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3092599	NM_138435.4(FAM83F):c.1052C>T (p.Ala351Val)	FAM83F (A351V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062459	GRCh37/hg19 22q13.1-13.2(chr22:39935185-41752098)x1	ADSL, CACNA1I +18 more	Copy number loss	not specified	GUncertain significance
Select item 3062450	GRCh37/hg19 22q13.1-13.31(chr22:39044105-45794212)x3	A4GALT, ACO2 +106 more	Copy number gain	not specified	GPathogenic
Select item 2653166	NM_138435.4(FAM83F):c.54G>A (p.Val18=)	FAM83F	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2568925	NM_138435.4(FAM83F):c.857C>T (p.Thr286Met)	FAM83F (T286M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2554432	NM_138435.4(FAM83F):c.909G>C (p.Gln303His)	FAM83F (Q303H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2522782	NM_138435.4(FAM83F):c.553G>A (p.Ala185Thr)	FAM83F (A185T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2521844	NM_138435.4(FAM83F):c.118G>C (p.Gly40Arg)	FAM83F (G40R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2508422	NM_138435.4(FAM83F):c.650G>A (p.Arg217Gln)	FAM83F (R217Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2496321	NM_138435.4(FAM83F):c.71C>T (p.Ala24Val)	FAM83F (A24V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2471880	NM_138435.4(FAM83F):c.1085C>T (p.Ala362Val)	FAM83F (A362V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2422150	NC_000022.10:g.(?_35776672)_(42486826_?)dup	ACO2, ADSL +132 more	Duplication	Adenylosuccinate lyase deficiency	GUncertain significance
Select item 2405705	NM_138435.4(FAM83F):c.490G>T (p.Val164Phe)	FAM83F (V164F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2399157	NM_138435.4(FAM83F):c.457G>C (p.Val153Leu)	FAM83F (V153L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2394223	NM_138435.4(FAM83F):c.904C>T (p.Arg302Trp)	FAM83F (R302W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2391262	NM_138435.4(FAM83F):c.671G>A (p.Arg224His)	FAM83F (R224H)	Single nucleotide variant (missense variant)	not specified +3 more	GUncertain significance
Select item 2389301	NM_138435.4(FAM83F):c.448C>T (p.Leu150Phe)	FAM83F (L150F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2377904	NM_138435.4(FAM83F):c.649C>T (p.Arg217Trp)	FAM83F (R217W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2376699	NM_138435.4(FAM83F):c.1271T>C (p.Met424Thr)	FAM83F (M424T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2360716	NM_138435.4(FAM83F):c.1303G>A (p.Ala435Thr)	FAM83F (A435T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2357497	NM_138435.4(FAM83F):c.565C>T (p.Arg189Trp)	FAM83F (R189W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2353266	NM_138435.4(FAM83F):c.877G>A (p.Ala293Thr)	FAM83F (A293T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2352017	NM_138435.4(FAM83F):c.1283C>T (p.Ala428Val)	FAM83F (A428V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2345399	NM_138435.4(FAM83F):c.511C>G (p.Leu171Val)	FAM83F (L171V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2343112	NM_138435.4(FAM83F):c.1361A>G (p.Asn454Ser)	FAM83F (N454S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2342997	NM_138435.4(FAM83F):c.1285C>T (p.Arg429Trp)	FAM83F (R429W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2329775	NM_138435.4(FAM83F):c.401G>A (p.Arg134Gln)	FAM83F (R134Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2327543	NM_138435.4(FAM83F):c.529A>G (p.Ile177Val)	FAM83F (I177V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2324306	NM_138435.4(FAM83F):c.911T>G (p.Leu304Arg)	FAM83F (L304R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2318512	NM_138435.4(FAM83F):c.895G>A (p.Asp299Asn)	FAM83F (D299N)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2312157	NM_138435.4(FAM83F):c.812A>T (p.Asn271Ile)	FAM83F (N271I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2285439	NM_138435.4(FAM83F):c.422C>T (p.Pro141Leu)	FAM83F (P141L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2226419	NM_138435.4(FAM83F):c.85G>A (p.Glu29Lys)	FAM83F (E29K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2216646	NM_138435.4(FAM83F):c.751G>A (p.Gly251Ser)	FAM83F (G251S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2215320	NM_138435.4(FAM83F):c.848C>G (p.Pro283Arg)	FAM83F (P283R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2213577	NM_138435.4(FAM83F):c.1310G>A (p.Arg437His)	FAM83F (R437H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2204812	NM_138435.4(FAM83F):c.665G>A (p.Arg222His)	FAM83F (R222H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1809336	GRCh37/hg19 22q13.1-13.2(chr22:39768795-41946225)x3	ACO2, ADSL +29 more	Copy number gain	not provided	GUncertain significance
Select item 1808635	GRCh37/hg19 22q13.1-13.2(chr22:40131240-41556564)x1	ADSL, DNAJB7 +12 more	Copy number loss	not provided	GPathogenic
Select item 1408743	NC_000022.10:g.(?_39621728)_(41077932_?)dup	ADSL, ATF4 +19 more	Duplication	Adenylosuccinate lyase deficiency	GUncertain significance
Select item 983188	GRCh37/hg19 22q11.1-13.33(chr22:16197005-51224252)x3	A4GALT, ACO2 +438 more	Copy number gain	See cases	GPathogenic
Select item 816216	GRCh37/hg19 22q12.2-13.33(chr22:30654764-51197838)x3	CERK, CHADL +271 more	Copy number gain	not provided	GPathogenic
Select item 685636	GRCh37/hg19 22q11.1-13.33(chr22:16888899-51197838)x3	TUBA8, TUBGCP6 +435 more	Copy number gain	not provided	GPathogenic
Select item 441654	GRCh37/hg19 22q11.1-13.33(chr22:16888900-51197838)	ANKRD54, AP1B1 +435 more	Copy number gain	See cases	GPathogenic
Select item 441653	GRCh37/hg19 22q11.1-13.33(chr22:16888900-51197838)x3	NEFH, NF2 +435 more	Copy number gain	See cases	GPathogenic
Select item 395140	GRCh37/hg19 22q11.1-13.33(chr22:16054691-51237463)x3	ZNF280A, ZNF280B +438 more	Copy number gain	See cases	GPathogenic
Select item 394709	GRCh37/hg19 22q11.1-13.33(chr22:16054691-51220902)x3	SMARCB1, SMC1B +438 more	Copy number gain	See cases	GPathogenic
Select item 253617	GRCh37/hg19 22q12.3-13.33(chr22:35728929-51220961)x3	A4GALT, ACO2 +223 more	Copy number gain	See cases	GPathogenic
Select item 253559	GRCh37/hg19 22q13.1-13.33(chr22:40425714-51220961)x3	ADM2, A4GALT +128 more	Copy number gain	See cases	GPathogenic
Select item 253509	GRCh37/hg19 22q11.1-13.33(chr22:16054691-51237518)x3	A4GALT, ACO2 +438 more	Copy number gain	See cases	GPathogenic
Select item 145336	GRCh38/hg38 22q11.1-13.33(chr22:16916743-50739785)x3	LOC130067403, LOC130067404 +2088 more	Copy number gain	See cases	GPathogenic
Select item 144164	GRCh38/hg38 22q11.1-13.33(chr22:16916608-50739836)x3	IL17RA, LINC01640 +2088 more	Copy number gain	See cases	GPathogenic
Select item 57943	GRCh38/hg38 22q13.1-13.2(chr22:37721797-40860953)x3	LOC130067459, LOC130067460 +273 more	Copy number gain	See cases	GPathogenic
Select item 57942	GRCh38/hg38 22q12.3-13.33(chr22:37061769-50738932)x3	LOC130067651, LOC130067652 +1004 more	Copy number gain	See cases	GPathogenic

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: 73