FAHD1[gene] - ClinVar

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Items: 88

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58594	GRCh38/hg38 16p13.3-13.13(chr16:23141-11296695)x3	ABAT, ABCA3 +822 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 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 58597	GRCh38/hg38 16p13.3(chr16:46766-3214623)x3	ARHGDIG, ATP6V0C +482 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 58600	GRCh38/hg38 16p13.3(chr16:1221651-2233773)x3	BAIAP3, BRICD5 +162 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 58604	GRCh38/hg38 16p13.3(chr16:1816283-2020966)x3	FAHD1, GFER +40 more	Copy number gain	See cases	GPathogenic
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 3091594	NM_031208.4(FAHD1):c.172A>G (p.Met58Val)	FAHD1, LOC130058194 (M58V)	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 2371286	NM_031208.4(FAHD1):c.187C>T (p.Arg63Cys)	FAHD1, LOC130058194 (R63C)	Single nucleotide variant (missense variant)	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 2615506	NM_031208.4(FAHD1):c.245T>A (p.Val82Asp)	FAHD1 (V82D)	Single nucleotide variant (missense variant)	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 3091596	NM_031208.4(FAHD1):c.314T>C (p.Val105Ala)	FAHD1 (V105A)	Single nucleotide variant (missense variant)	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 3091597	NM_031208.4(FAHD1):c.379C>T (p.Pro127Ser)	FAHD1 (P127S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 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 2241378	NM_031208.4(FAHD1):c.515A>G (p.Tyr172Cys)	FAHD1 (Y172C)	Single nucleotide variant (missense variant)	not specified	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 3277062	NM_031208.4(FAHD1):c.545G>A (p.Gly182Glu)	FAHD1 (G182E)	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 2486132	NM_031208.4(FAHD1):c.577G>A (p.Val193Ile)	FAHD1 (V193I)	Single nucleotide variant (missense variant)	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 2315102	NM_031208.4(FAHD1):c.614G>A (p.Gly205Asp)	FAHD1 (G205D)	Single nucleotide variant (missense variant)	not specified	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 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 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 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 715773	NM_001163560.3(MEIOB):c.1306-5C>T	MEIOB, FAHD1	Single nucleotide variant (intron variant)	not provided	GBenign
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 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 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 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 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 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 1328958	NM_001163560.3(MEIOB):c.1118_1121del (p.Phe373fs)	FAHD1, MEIOB (F373fs)	Deletion (frameshift variant +1 more)	Azoospermia	GPathogenic
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 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 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 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 2498682	GRCh37/hg19 16p13.3(chr16:811896-2130379)x1	BAIAP3, C1QTNF8 +52 more	Copy number loss	not provided	GPathogenic
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 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 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 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

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Items: 88