UFC1[gene] - ClinVar

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Items: 37

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155448	GRCh38/hg38 1q21.2-25.2(chr1:149854269-180267197)x3	LOC129931453, LOC129931454 +1585 more	Copy number gain	See cases	GPathogenic
Select item 58109	GRCh38/hg38 1q23.1-25.1(chr1:157747246-176021247)x3	ADAMTS4, ADCY10 +775 more	Copy number gain	See cases	GPathogenic
Select item 57465	GRCh38/hg38 1q23.2-24.1(chr1:159479887-166895086)x1	ADAMTS4, ALDH9A1 +371 more	Copy number loss	See cases	GPathogenic
Select item 639872	NC_000001.10:g.(?_160786670)_(161332233_?)dup	ADAMTS4, APOA2 +63 more	Duplication	Gastrointestinal stromal tumor +1 more	GUncertain significance
Select item 57815	GRCh38/hg38 1q23.3(chr1:160866658-161315114)x3	ADAMTS4, APOA2 +58 more	Copy number gain	See cases	GUncertain significance
Select item 3026802	NC_000001.11:g.161152992G>C	UFC1	Single nucleotide variant	not provided	GBenign
Select item 3330787	NM_016406.4(UFC1):c.38T>A (p.Ile13Asn)	LOC126805894, UFC1 (I13N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2619074	NM_016406.4(UFC1):c.39C>G (p.Ile13Met)	LOC126805894, UFC1 (I13M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1033413	NM_016406.4(UFC1):c.41C>T (p.Pro14Leu)	UFC1, LOC126805894 (P14L)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with spasticity and poor growth	GUncertain significance
Select item 3044060	NM_016406.4(UFC1):c.48G>C (p.Leu16=)	LOC126805894, UFC1	Single nucleotide variant (synonymous variant)	UFC1-related disorder	GLikely benign
Select item 559448	NM_016406.4(UFC1):c.68G>A (p.Arg23Gln)	LOC126805894, UFC1 (R23Q)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with spasticity and poor growth	GPathogenic
Select item 1706462	NM_016406.4(UFC1):c.135CAA[1] (p.Asn46del)	UFC1 (N46del)	Microsatellite (inframe_deletion)	Neurodevelopmental disorder with spasticity and poor growth	GPathogenic
Select item 3025418	NM_016406.4(UFC1):c.138C>T (p.Asn46=)	UFC1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2265839	NM_016406.4(UFC1):c.151A>T (p.Asn51Tyr)	UFC1 (N51Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3043955	NM_016406.4(UFC1):c.153C>T (p.Asn51=)	UFC1	Single nucleotide variant (synonymous variant)	UFC1-related disorder	GBenign
Select item 1029601	NM_016406.4(UFC1):c.153C>A (p.Asn51Lys)	UFC1 (N51K)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with spasticity and poor growth	GUncertain significance
Select item 2544994	NM_016406.4(UFC1):c.212A>G (p.Tyr71Cys)	UFC1 (Y71C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2217798	NM_016406.4(UFC1):c.247G>A (p.Glu83Lys)	UFC1 (E83K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 559447	NM_016406.4(UFC1):c.317C>T (p.Thr106Ile)	UFC1 (T106I)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with spasticity and poor growth	GLikely pathogenic
Select item 3330789	NM_016406.4(UFC1):c.364A>G (p.Lys122Glu)	UFC1 (K122E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2277651	NM_016406.4(UFC1):c.365A>C (p.Lys122Thr)	UFC1 (K122T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2569272	NM_016406.4(UFC1):c.377C>T (p.Ala126Val)	UFC1 (A126V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2639507	NM_016406.4(UFC1):c.432A>G (p.Pro144=)	UFC1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2454350	NM_016406.4(UFC1):c.472G>A (p.Val158Ile)	UFC1 (V158I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2685732	GRCh37/hg19 1q23.1-23.3(chr1:158001058-162858285)x1	ACKR1, ADAMTS4 +107 more	Copy number loss	not provided	GLikely pathogenic
Select item 1809367	GRCh37/hg19 1q23.3(chr1:160778879-161190622)x3	ADAMTS4, ARHGAP30 +18 more	Copy number gain	not provided	GUncertain significance
Select item 1527326	GRCh37/hg19 1q23.2-24.1(chr1:160417296-166197042)	ADAMTS4, ALDH9A1 +62 more	Copy number loss	not specified	GPathogenic
Select item 1411942	NC_000001.10:g.(?_158581054)_(162750036_?)dup	ACKR1, ADAMTS4 +90 more	Duplication	Autoimmune interstitial lung disease-arthritis syndrome	GUncertain significance
Select item 1341040	GRCh37/hg19 1q23.3(chr1:160859558-161409185)x3	ADAMTS4, APOA2 +22 more	Copy number gain	not provided	GLikely pathogenic
Select item 1003645	NC_000001.10:g.(?_130980840)_(248900000_?)dup	FCGR3A, LCE3C +956 more	Duplication	Parathyroid carcinoma +2 more	GUncertain significance
Select item 830661	NC_000001.11:g.(?_160816880)_(161362518_?)dup	ADAMTS4, APOA2 +24 more	Duplication	Paragangliomas 3 +1 more	GUncertain significance
Select item 814133	GRCh37/hg19 1q23.3(chr1:160977795-161189147)x3	KLHDC9, PFDN2 +14 more	Copy number gain	not provided	GUncertain significance
Select item 688334	GRCh37/hg19 1q23.3(chr1:160744174-162583871)x3	ADAMTS4, APOA2 +42 more	Copy number gain	not provided	GUncertain significance
Select item 688082	GRCh37/hg19 1q23.1-24.2(chr1:157321299-167391423)x1	ACKR1, ADAMTS4 +132 more	Copy number loss	not provided	GPathogenic
Select item 625771	GRCh37/hg19 1q23.2-25.1(chr1:160369890-175796325)	ADCY10, ALDH9A1 +137 more	Copy number loss	not provided	GPathogenic
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	CD34, CD46 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	GPATCH2, GPATCH3 +2014 more	Copy number gain	See cases	GPathogenic

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Items: 37