84101[Gene ID] - ClinVar

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Items: 49

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	ACAD10, ACADS +4836 more	Copy number gain	See cases	GPathogenic
Select item 154380	GRCh38/hg38 12q21.33-24.11(chr12:91044318-109133210)x3	ABTB3, ACACB +712 more	Copy number gain	See cases	GPathogenic
Select item 2231016	NM_032147.5(USP44):c.2056A>C (p.Lys686Gln)	USP44 (K686Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2456826	NM_032147.5(USP44):c.2012A>T (p.Tyr671Phe)	USP44 (Y671F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2235907	NM_032147.5(USP44):c.1798A>T (p.Met600Leu)	USP44 (M600L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3187684	NM_032147.5(USP44):c.1600A>G (p.Ile534Val)	USP44 (I534V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3187683	NM_032147.5(USP44):c.1598A>G (p.Lys533Arg)	USP44 (K533R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2241174	NM_032147.5(USP44):c.1594G>A (p.Gly532Arg)	USP44 (G532R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3047912	NM_032147.5(USP44):c.1489T>C (p.Leu497=)	USP44	Single nucleotide variant (synonymous variant +1 more)	USP44-related disorder	GLikely benign
Select item 3050312	NM_032147.5(USP44):c.1443A>T (p.Ala481=)	USP44	Single nucleotide variant (synonymous variant +1 more)	USP44-related disorder	GLikely benign
Select item 2295260	NM_032147.5(USP44):c.1369C>T (p.Leu457Phe)	USP44 (L457F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3331589	NM_032147.5(USP44):c.1141C>G (p.Leu381Val)	USP44 (L381V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2369540	NM_032147.5(USP44):c.1130A>G (p.Gln377Arg)	USP44 (Q377R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2519025	NM_032147.5(USP44):c.1098G>T (p.Met366Ile)	USP44 (M366I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 715654	NM_032147.5(USP44):c.1087G>A (p.Gly363Ser)	USP44 (G363S)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2292852	NM_032147.5(USP44):c.1076G>A (p.Gly359Glu)	USP44 (G359E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2468248	NM_032147.5(USP44):c.1075G>A (p.Gly359Arg)	USP44 (G359R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3187681	NM_032147.5(USP44):c.1073G>A (p.Gly358Asp)	USP44 (G358D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 770607	NM_032147.5(USP44):c.1042A>G (p.Arg348Gly)	USP44 (R348G)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 870251	NM_032147.5(USP44):c.873_886delinsT (p.Leu291fs)	USP44 (L291fs)	Indel (frameshift variant +1 more)	Intellectual disability, moderate	GUncertain significance
Select item 2292580	NM_032147.5(USP44):c.845G>T (p.Cys282Phe)	USP44 (C282F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2257796	NM_032147.5(USP44):c.778T>C (p.Ser260Pro)	USP44 (S260P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2267459	NM_032147.5(USP44):c.775G>T (p.Asp259Tyr)	USP44 (D259Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2395741	NM_032147.5(USP44):c.737T>C (p.Leu246Pro)	USP44 (L246P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 783038	NM_032147.5(USP44):c.708G>A (p.Thr236=)	USP44	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2589218	NM_032147.5(USP44):c.707C>T (p.Thr236Met)	USP44 (T236M)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3187688	NM_032147.5(USP44):c.662A>G (p.Gln221Arg)	USP44 (Q221R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3331590	NM_032147.5(USP44):c.590T>C (p.Leu197Ser)	USP44 (L197S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2385524	NM_032147.5(USP44):c.581G>A (p.Arg194Gln)	USP44 (R194Q)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2485972	NM_032147.5(USP44):c.553G>A (p.Val185Ile)	USP44 (V185I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3187687	NM_032147.5(USP44):c.527A>C (p.Gln176Pro)	USP44 (Q176P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3052269	NM_032147.5(USP44):c.492A>G (p.Thr164=)	USP44	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3187686	NM_032147.5(USP44):c.442A>T (p.Thr148Ser)	USP44 (T148S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2522183	NM_032147.5(USP44):c.362G>A (p.Arg121Gln)	USP44 (R121Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2401977	NM_032147.5(USP44):c.361C>T (p.Arg121Trp)	USP44 (R121W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2608459	NM_032147.5(USP44):c.320G>A (p.Ser107Asn)	USP44 (S107N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2310793	NM_032147.5(USP44):c.288G>C (p.Lys96Asn)	USP44 (K96N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2411621	NM_032147.5(USP44):c.251A>G (p.Asp84Gly)	USP44 (D84G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 135635	NM_032147.5(USP44):c.213G>T (p.Glu71Asp)	USP44 (E71D)	Single nucleotide variant (missense variant +1 more)	not provided	Gnot provided
Select item 3187685	NM_032147.5(USP44):c.210G>T (p.Leu70Phe)	USP44 (L70F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2512775	NM_032147.5(USP44):c.149G>A (p.Gly50Glu)	USP44 (G50E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3187682	NM_032147.5(USP44):c.134C>T (p.Ser45Phe)	USP44 (S45F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3053730	NM_032147.5(USP44):c.106G>A (p.Glu36Lys)	USP44 (E36K)	Single nucleotide variant (missense variant +1 more)	USP44-related disorder	GBenign
Select item 779606	NM_032147.5(USP44):c.105C>G (p.Thr35=)	USP44	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2455301	NM_032147.5(USP44):c.17C>T (p.Thr6Met)	USP44 (T6M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3048368	NM_032147.5(USP44):c.6A>G (p.Leu2=)	USP44	Single nucleotide variant (synonymous variant +1 more)	USP44-related disorder	GLikely benign
Select item 441984	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)	SLC15A5, SLC16A7 +1006 more	Copy number gain	See cases	GPathogenic
Select item 441983	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3	A2M, A2ML1 +1006 more	Copy number gain	See cases	GPathogenic
Select item 268075	GRCh37/hg19 12p13.33-q24.33(chr12:1-133851895)x3	GALNT8, H2AJ +1007 more	Copy number gain	See cases	GPathogenic

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Items: 49