FAM177A1[gene] - ClinVar

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Items: 48

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59932	GRCh38/hg38 14q11.2-21.1(chr14:20000611-38984415)x3	LOC130055392, LOC130055393 +780 more	Copy number gain	See cases	GPathogenic
Select item 155119	GRCh38/hg38 14q11.2-21.2(chr14:20022693-44093672)x3	ABHD4, ACIN1 +814 more	Copy number gain	See cases	GPathogenic
Select item 155681	GRCh38/hg38 14q11.2-21.3(chr14:20043513-48642042)x3	OR10G2, OR10G3 +859 more	Copy number gain	See cases	GPathogenic
Select item 155306	GRCh38/hg38 14q11.2-32.33(chr14:20043514-106877229)x3	LOC126862060, LOC126862061 +3282 more	Copy number gain	See cases	GPathogenic
Select item 146230	GRCh38/hg38 14q11.2-32.33(chr14:20151149-106855263)x3	LOC125048449, LOC125048450 +3277 more	Copy number gain	See cases	GPathogenic
Select item 57745	GRCh38/hg38 14q11.2-21.2(chr14:20196945-45284802)x1	LOC112214170, LOC112214171 +840 more	Copy number loss	See cases	GPathogenic
Select item 57750	GRCh38/hg38 14q11.2-21.1(chr14:23548960-41983402)x1	MIR4503, MIR624 +399 more	Copy number loss	See cases	GPathogenic
Select item 146008	GRCh38/hg38 14q12-21.1(chr14:30382554-37712341)x1	AKAP6, AP4S1 +179 more	Copy number loss	See cases	GPathogenic
Select item 58523	GRCh38/hg38 14q12-21.2(chr14:30670314-44990595)x3	INSM2, KLHL28 +237 more	Copy number gain	See cases	GPathogenic
Select item 154996	GRCh38/hg38 14q12-21.2(chr14:30792271-44685131)x1	LOC126861917, LOC126861918 +225 more	Copy number loss	See cases	GPathogenic
Select item 154467	GRCh38/hg38 14q13.1-13.3(chr14:33762166-36191750)x1	BAZ1A, BAZ1A-AS1 +88 more	Copy number loss	See cases	GUncertain significance
Select item 154047	GRCh38/hg38 14q13.1-21.1(chr14:33880412-42359485)x1	BAZ1A, BAZ1A-AS1 +156 more	Copy number loss	See cases	GPathogenic
Select item 870589	NC_000014.9:g.35044389_35052476del	LOC130055485, FAM177A1 +3 more	Deletion (genic upstream transcript variant)	FAM177A1-related disorder	GLikely pathogenic
Select item 3092064	NM_173607.5(FAM177A1):c.81G>T (p.Glu27Asp)	FAM177A1 (E27D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2238931	NM_173607.5(FAM177A1):c.83C>T (p.Pro28Leu)	FAM177A1 (P28L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2339244	NM_173607.5(FAM177A1):c.172A>G (p.Asn58Asp)	FAM177A1 (N35D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 729468	NM_173607.5(FAM177A1):c.174C>T (p.Asn58=)	FAM177A1	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 3092061	NM_173607.5(FAM177A1):c.196G>A (p.Glu66Lys)	FAM177A1 (E43K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3092062	NM_173607.5(FAM177A1):c.338C>T (p.Pro113Leu)	FAM177A1 (P90L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 151240	GRCh38/hg38 14q13.2(chr14:35068276-35231604)x3	FAM177A1, LOC101927178 +5 more	Copy number gain	See cases	GLikely benign
Select item 148775	GRCh38/hg38 14q13.2-21.2(chr14:35068276-43994777)x1	BRMS1L, CLEC14A +113 more	Copy number loss	See cases	GPathogenic
Select item 2554571	NM_173607.5(FAM177A1):c.359C>T (p.Pro120Leu)	FAM177A1 (P97L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1686831	NM_173607.5(FAM177A1):c.366_367dup (p.Trp123fs)	FAM177A1 (W100fs +1 more)	Duplication (frameshift variant)	not provided	GUncertain significance
Select item 183348	NM_173607.5(FAM177A1):c.366dup (p.Trp123fs)	FAM177A1 (W123fs +1 more)	Duplication (frameshift variant)	Macrocephaly +3 more	GLikely pathogenic
Select item 2570203	NM_173607.5(FAM177A1):c.383G>A (p.Arg128Gln)	FAM177A1 (R105Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 870577	NC_000014.9:g.35077780_35087566del	FAM177A1, LOC101927178 +1 more	Deletion	FAM177A1-related disorder	GLikely pathogenic
Select item 2275882	NM_173607.5(FAM177A1):c.439G>C (p.Val147Leu)	FAM177A1 (V147L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3092063	NM_173607.5(FAM177A1):c.539A>G (p.Glu180Gly)	FAM177A1 (E180G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2221327	NM_173607.5(FAM177A1):c.641A>G (p.Asn214Ser)	FAM177A1, LOC101927178 (N191S +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2279688	NM_173607.5(FAM177A1):c.661A>C (p.Ser221Arg)	FAM177A1, LOC101927178 (S198R +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2316950	NM_173607.5(FAM177A1):c.704C>T (p.Pro235Leu)	FAM177A1, LOC101927178 (P235L +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3063339	GRCh37/hg19 14q13.1-13.2(chr14:35059946-35787671)x3	BAZ1A, CFL2 +6 more	Copy number gain	not specified	GUncertain significance
Select item 3063324	GRCh37/hg19 14q12-21.2(chr14:29190489-45325177)x1	AKAP6, AP4S1 +48 more	Copy number loss	not specified	GPathogenic
Select item 3063313	GRCh37/hg19 14q13.2(chr14:35360640-35936592)x3	FAM177A1, NFKBIA +4 more	Copy number gain	not specified	GUncertain significance
Select item 2685482	GRCh37/hg19 14q13.1-13.3(chr14:34585231-37477843)x1	BAZ1A, BRMS1L +19 more	Copy number loss	not provided	GPathogenic
Select item 2684714	GRCh37/hg19 14q11.2-23.1(chr14:20511673-61826023)x3	ABHD12B, ABHD4 +289 more	Copy number gain	not provided	GPathogenic
Select item 2424631	NC_000014.8:g.(?_35182071)_(35873850_?)del	BAZ1A, CFL2 +6 more	Deletion	Ectodermal dysplasia and immunodeficiency 2	GUncertain significance
Select item 1879292	GRCh37/hg19 14q13.1-13.3(chr14:34904407-36784136)x1	BAZ1A, BRMS1L +14 more	Copy number loss	not provided	GPathogenic
Select item 1703540	GRCh37/hg19 14q11.2-21.3(chr14:20511672-47481203)	ABHD4, ACIN1 +197 more	Copy number gain	Seizure	GPathogenic
Select item 1676204	NC_000014.8:g.(21162263_36986276)_(36987308_50713602)del	DHRS1, NYNRIN +190 more	Deletion	Brain-lung-thyroid syndrome	GPathogenic
Select item 1047865	GRCh37/hg19 14q13.1-21.2(chr14:33608925-44570367)	BAZ1A, BRMS1L +33 more	Copy number loss	Poor motor coordination	GPathogenic
Select item 973024	GRCh37/hg19 14q11.2-21.1(chr14:20511672-42881888)x3	AKAP6, MDP1 +187 more	Copy number gain	not provided	Gnot provided
Select item 915989	GRCh37/hg19 14q13.2(chr14:35546356-35546423)	FAM177A1	Copy number loss	Mild obesity +3 more	GUncertain significance
Select item 815638	GRCh37/hg19 14q13.2(chr14:35395019-35783469)x3	PPP2R3C, FAM177A1 +3 more	Copy number gain	not provided	GUncertain significance
Select item 815628	GRCh37/hg19 14q11.2-21.2(chr14:20511672-44829030)x3	ABHD4, ACIN1 +187 more	Copy number gain	not provided	GPathogenic
Select item 564117	GRCh37/hg19 14q13.1-13.2(chr14:35232984-35652742)x3	SRP54, BAZ1A +3 more	Copy number gain	not provided	GUncertain significance
Select item 443977	GRCh37/hg19 14q11.2-32.33(chr14:20511673-107285437)	GTF2A1, GZMB +624 more	Copy number gain	See cases	GPathogenic
Select item 395470	GRCh37/hg19 14q11.2-32.33(chr14:19794561-107234280)x3	ABCD4, ABHD12B +635 more	Copy number gain	See cases	GPathogenic

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Items: 48