ClinVar for Gene (Select 81889) - ClinVar

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

Links from Gene

Items: 88

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3277062	NM_031208.4(FAHD1):c.545G>A (p.Gly182Glu)	FAHD1 (G182E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3277061	NM_031208.4(FAHD1):c.508A>C (p.Ile170Leu)	FAHD1 (I170L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3277060	NM_031208.4(FAHD1):c.508A>G (p.Ile170Val)	FAHD1 (I170V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3243525	NC_000016.9:g.(?_1822222)_(2550959_?)dup	ABCA3, BRICD5 +39 more	Duplication	Caused by mutation in the TBC1 domain family, member 24 +2 more	GUncertain significance
Select item 3243466	NC_000016.9:g.(?_1607916)_(2130398_?)dup	CRAMP1, EME2 +27 more	Duplication	Tuberous sclerosis 2	GUncertain significance
Select item 3243222	NC_000016.9:g.(?_339420)_(3767509_?)dup	ABCA3, AMDHD2 +142 more	Duplication	Idiopathic generalized epilepsy +2 more	GUncertain significance
Select item 3125263	NM_001163560.3(MEIOB):c.1407A>C (p.Lys469Asn)	FAHD1, MEIOB (K469N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3125262	NM_001163560.3(MEIOB):c.1309G>A (p.Val437Ile)	FAHD1, MEIOB (V437I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3125261	NM_001163560.3(MEIOB):c.1295T>G (p.Ile432Ser)	FAHD1, MEIOB (I432S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3091598	NM_031208.4(FAHD1):c.610G>A (p.Ala204Thr)	FAHD1 (A204T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3091597	NM_031208.4(FAHD1):c.379C>T (p.Pro127Ser)	FAHD1 (P127S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3091596	NM_031208.4(FAHD1):c.314T>C (p.Val105Ala)	FAHD1 (V105A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3091595	NM_031208.4(FAHD1):c.184A>C (p.Thr62Pro)	FAHD1, LOC130058194 (T62P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3091594	NM_031208.4(FAHD1):c.172A>G (p.Met58Val)	FAHD1, LOC130058194 (M58V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2691781	NM_001163560.3(MEIOB):c.1072_1073del (p.Met358fs)	FAHD1, MEIOB (M358fs)	Deletion (frameshift variant +1 more)	Premature ovarian failure 23 +1 more	GPathogenic
Select item 2691779	NM_001163560.3(MEIOB):c.1218G>A (p.Thr406=)	FAHD1, MEIOB	Single nucleotide variant (synonymous variant +1 more)	Premature ovarian failure 23	GPathogenic
Select item 2684773	GRCh37/hg19 16p13.3(chr16:1505227-1960381)x3	CLCN7, CRAMP1 +15 more	Copy number gain	not provided	GUncertain significance
Select item 2684772	GRCh37/hg19 16p13.3(chr16:1054247-2592737)x3	ABCA3, AMDHD2 +66 more	Copy number gain	not provided	GLikely pathogenic
Select item 2624403	NM_031208.4(FAHD1):c.499C>T (p.Pro167Ser)	FAHD1 (P167S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2615506	NM_031208.4(FAHD1):c.245T>A (p.Val82Asp)	FAHD1 (V82D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2610490	NM_001163560.3(MEIOB):c.1320C>A (p.His440Gln)	FAHD1, MEIOB (H411Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2512500	NM_001163560.3(MEIOB):c.1243G>A (p.Asp415Asn)	FAHD1, MEIOB (D415N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2498682	GRCh37/hg19 16p13.3(chr16:811896-2130379)x1	BAIAP3, C1QTNF8 +52 more	Copy number loss	not provided	GPathogenic
Select item 2492907	NM_001163560.3(MEIOB):c.1276C>A (p.Leu426Ile)	FAHD1, MEIOB (L426I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2486500	NM_031208.4(FAHD1):c.356C>A (p.Ala119Glu)	FAHD1 (A119E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2486132	NM_031208.4(FAHD1):c.577G>A (p.Val193Ile)	FAHD1 (V193I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2483307	NM_001163560.3(MEIOB):c.1309G>C (p.Val437Leu)	FAHD1, MEIOB (V408L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2454579	NM_031208.4(FAHD1):c.290G>C (p.Cys97Ser)	FAHD1 (C97S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2426265	NC_000016.9:g.(?_256302)_(1918176_?)del	C1QTNF8, CACNA1H +67 more	Deletion	not provided	GUncertain significance
Select item 2425037	NC_000016.9:g.(?_256302)_(4852572_?)dup	TIGD7, TMEM204 +170 more	Duplication	Idiopathic generalized epilepsy +3 more	GUncertain significance
Select item 2386601	NM_031208.4(FAHD1):c.533C>G (p.Thr178Ser)	FAHD1 (T178S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2371286	NM_031208.4(FAHD1):c.187C>T (p.Arg63Cys)	FAHD1, LOC130058194 (R63C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2363716	NM_001163560.3(MEIOB):c.1217C>T (p.Thr406Met)	FAHD1, MEIOB (T406M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2339136	NM_031208.4(FAHD1):c.231G>C (p.Lys77Asn)	FAHD1 (K77N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2315102	NM_031208.4(FAHD1):c.614G>A (p.Gly205Asp)	FAHD1 (G205D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2257141	NM_031208.4(FAHD1):c.169C>A (p.Leu57Ile)	FAHD1, LOC130058194 (L57I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2241378	NM_031208.4(FAHD1):c.515A>G (p.Tyr172Cys)	FAHD1 (Y172C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2225259	NM_031208.4(FAHD1):c.545G>T (p.Gly182Val)	FAHD1 (G182V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2081185	NM_001163560.3(MEIOB):c.1035-1G>A	FAHD1, MEIOB	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely pathogenic
Select item 2078114	NM_001163560.3(MEIOB):c.1207_1208del (p.Leu403fs)	FAHD1, MEIOB (L403fs +1 more)	Deletion (frameshift variant +1 more)	not provided	GPathogenic
Select item 1808452	GRCh37/hg19 16p13.3(chr16:1129080-2021055)x3	BAIAP3, C1QTNF8 +36 more	Copy number gain	not provided	GUncertain significance
Select item 1710928	GRCh37/hg19 16p13.3(chr16:111043-6627459)x3	ABCA3, ADCY9 +187 more	Copy number gain	See cases	GPathogenic
Select item 1526483	GRCh37/hg19 16p13.3(chr16:1847662-2653144)	ABCA3, AMDHD2 +38 more	Copy number gain	not specified	GUncertain significance
Select item 1340286	GRCh37/hg19 16p13.3(chr16:1830141-2592737)x3	ABCA3, AMDHD2 +41 more	Copy number gain	not provided	GUncertain significance
Select item 1328958	NM_001163560.3(MEIOB):c.1118_1121del (p.Phe373fs)	FAHD1, MEIOB (F373fs)	Deletion (frameshift variant +1 more)	Azoospermia	GPathogenic
Select item 1180508	GRCh37/hg19 16p13.3(chr16:84485-5251013)x3	JPT2, KCTD5 +188 more	Copy number gain	not provided	GPathogenic
Select item 1017417	NC_000016.9:g.(?_624055)_(2153916_?)dup	CCDC78, ANTKMT +71 more	Duplication	Epilepsy +2 more	GUncertain significance
Select item 980573	GRCh37/hg19 16p13.3(chr16:85880-5249457)x3	ABCA3, ADCY9 +188 more	Copy number gain	not provided	GPathogenic
Select item 833445	NC_000016.9:g.(?_1203718)_(2185710_?)del	EME2, FAHD1 +45 more	Deletion	Tuberous sclerosis 2	GPathogenic
Select item 833344	NC_000016.9:g.(?_624055)_(2550979_?)dup	IGFALS, MRPS34 +86 more	Duplication	Idiopathic generalized epilepsy +1 more	GUncertain significance
Select item 832709	NC_000016.9:g.(?_624055)_(2148005_?)del	CCDC78, CHTF18 +71 more	Deletion	Tuberous sclerosis 2	GPathogenic
Select item 831814	NC_000016.10:g.(?_1523498)_(2064447_?)del	MAPK8IP3, MEIOB +28 more	Deletion	Tuberous sclerosis 2	GPathogenic
Select item 715773	NM_001163560.3(MEIOB):c.1306-5C>T	FAHD1, MEIOB	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 689437	Single allele	CRAMP1, EME2 +28 more	Inversion	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 688348	GRCh37/hg19 16p13.3(chr16:85880-2053328)x1	ANTKMT, ARHGDIG +89 more	Copy number loss	not provided	GPathogenic
Select item 685169	GRCh37/hg19 16p13.3(chr16:1727095-1947413)x3	CRAMP1, EME2 +10 more	Copy number gain	not provided	GUncertain significance
Select item 655214	NC_000016.9:g.(?_624055)_(2115656_?)del	ANTKMT, BAIAP3 +69 more	Deletion	Tuberous sclerosis 2	GPathogenic
Select item 625723	GRCh37/hg19 16p13.3(chr16:109978-4316797)	ABCA3, ADCY9 +159 more	Copy number gain	Chromosome 16p13.3 duplication syndrome	GPathogenic
Select item 564257	GRCh37/hg19 16p13.3(chr16:1734363-2285561)x1	BRICD5, CASKIN1 +34 more	Copy number loss	not provided	GPathogenic
Select item 564256	GRCh37/hg19 16p13.3(chr16:1505184-4415346)x3	ABCA3, ADCY9 +103 more	Copy number gain	not provided	GPathogenic
Select item 564254	GRCh37/hg19 16p13.3-13.13(chr16:85880-11209288)x3	ABAT, ABCA3 +206 more	Copy number gain	not provided	GPathogenic
Select item 564253	GRCh37/hg19 16p13.3(chr16:85880-3216551)x3	ABCA3, AMDHD2 +139 more	Copy number gain	not provided	GPathogenic
Select item 443477	GRCh37/hg19 16p13.3-13.2(chr16:85880-9883129)x3	ABAT, ABCA3 +198 more	Copy number gain	See cases	GPathogenic
Select item 443183	GRCh37/hg19 16p13.3-12.2(chr16:85880-22442007)x3	ABAT, ABCA3 +295 more	Copy number gain	See cases	GPathogenic
Select item 443121	GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)x3	AARS1, ABAT +811 more	Copy number gain	See cases	GPathogenic
Select item 443120	GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)	CCL22, CCNF +811 more	Copy number gain	See cases	GPathogenic
Select item 442872	GRCh37/hg19 16p13.3-12.3(chr16:85880-19806921)x3	PRSS27, PRSS33 +263 more	Copy number gain	See cases	GPathogenic
Select item 441740	GRCh37/hg19 16p13.3(chr16:643377-3125125)x3	ABCA3, AMDHD2 +111 more	Copy number gain	See cases	GUncertain significance
Select item 395719	GRCh37/hg19 16p13.3-13.2(chr16:78801-9169448)	CLDN6, CLDN9 +196 more	Copy number gain	See cases	GPathogenic
Select item 395502	GRCh37/hg19 16p13.3-q24.3(chr16:69193-90274381)x3	ABCC6, BCL7C +811 more	Copy number gain	See cases	GPathogenic
Select item 394840	GRCh37/hg19 16p13.3(chr16:97133-5122974)x3	ABCA3, ADCY9 +187 more	Copy number gain	See cases	GPathogenic
Select item 375693	maternal UPD(16p)	ALG1, BICDL2 +388 more	Complex	Hemimegalencephaly	GPathogenic
Select item 253874	GRCh37/hg19 16p13.3(chr16:1860861-2070554)x3	MEIOB, FAHD1 +14 more	Copy number gain	See cases	GUncertain significance
Select item 221511	GRCh37/hg19 16p13.3-12.3(chr16:1274615-19073133)x3	AMDHD2, ANKS3 +202 more	Copy number gain	Breast ductal adenocarcinoma	GUncertain significance
Select item 221391	GRCh37/hg19 16p13.3-11.2(chr16:1279324-31926800)x3	ABAT, ABCA3 +384 more	Copy number gain	Breast ductal adenocarcinoma	GUncertain significance
Select item 219021	GRCh37/hg19 16p13.3-11.2(chr16:102839-28327676)x3	ABAT, ABCA3 +330 more	Copy number gain	See cases	GPathogenic
Select item 155643	GRCh38/hg38 16p13.3-13.11(chr16:666662-15743104)x3	ABAT, ABCA3 +926 more	Copy number gain	See cases	GPathogenic
Select item 150284	GRCh38/hg38 16p13.3-13.12(chr16:43732-13326806)x3	EEF2KMT, ELOB +917 more	Copy number gain	See cases	GPathogenic
Select item 148760	GRCh38/hg38 16p13.3(chr16:46722-1867327)x1	ANTKMT, ARHGDIG +224 more	Copy number loss	See cases	GPathogenic
Select item 147509	GRCh38/hg38 16p13.3(chr16:46766-4247185)x3	LOC125146383, LOC125146384 +556 more	Copy number gain	See cases	GPathogenic
Select item 144298	GRCh38/hg38 16p13.3-13.13(chr16:46766-11525516)x3	ABAT, ABCA3 +843 more	Copy number gain	See cases	GPathogenic
Select item 59411	GRCh38/hg38 16p13.3(chr16:46766-1997582)x1	ANTKMT, ARHGDIG +253 more	Copy number loss	See cases	GPathogenic
Select item 58604	GRCh38/hg38 16p13.3(chr16:1816283-2020966)x3	FAHD1, GFER +40 more	Copy number gain	See cases	GPathogenic
Select item 58602	GRCh38/hg38 16p13.3(chr16:1278821-1919148)x3	MAPK8IP3, MAPK8IP3-AS1 +88 more	Copy number gain	See cases	GPathogenic
Select item 58600	GRCh38/hg38 16p13.3(chr16:1221651-2233773)x3	BAIAP3, BRICD5 +162 more	Copy number gain	See cases	GPathogenic
Select item 58597	GRCh38/hg38 16p13.3(chr16:46766-3214623)x3	ARHGDIG, ATP6V0C +482 more	Copy number gain	See cases	GPathogenic
Select item 58595	GRCh38/hg38 16p13.3(chr16:29941-2560460)x3	ABCA3, AMDHD2 +356 more	Copy number gain	See cases	GPathogenic
Select item 58594	GRCh38/hg38 16p13.3-13.13(chr16:23141-11296695)x3	ABAT, ABCA3 +822 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: 88