11254[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 148363	GRCh38/hg38 17q23.1-25.1(chr17:36449220-75053130)x3	AARSD1, AATF +2032 more	Copy number gain	See cases	GPathogenic
Select item 57282	GRCh38/hg38 17q21.33-24.2(chr17:36449220-68170214)x3	LOC126862582, LOC126862583 +1753 more	Copy number gain	See cases	GPathogenic
Select item 59589	GRCh38/hg38 17q21.32-22(chr17:49137864-52147810)x1	ABCC3, ABI3 +203 more	Copy number loss	See cases	GPathogenic
Select item 151158	GRCh38/hg38 17q21.33(chr17:49361155-50269440)x1	COL1A1, DLX3 +74 more	Copy number loss	See cases	GPathogenic
Select item 3234787	NM_001007228.2(SPOP):c.1101A>C (p.Pro367=)	SPOP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3236580	NM_001007228.2(SPOP):c.1100del (p.Pro367fs)	SPOP (P367fs)	Deletion (frameshift variant)	Neurodevelopmental disorder with microcephaly and dysmorphic facies	GUncertain significance
Select item 1709616	NM_001007228.2(SPOP):c.1094del (p.Gly365fs)	SPOP (G365fs)	Deletion (frameshift variant)	Neurodevelopmental disorder with microcephaly and dysmorphic facies	GUncertain significance
Select item 2441912	NM_001007228.2(SPOP):c.1021A>G (p.Met341Val)	SPOP (M341V)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with microcephaly and dysmorphic facies	GUncertain significance
Select item 1708091	NM_001007228.2(SPOP):c.1015A>T (p.Lys339Ter)	SPOP (K339*)	Single nucleotide variant (nonsense)	Neurodevelopmental disorder with microcephaly and dysmorphic facies	GLikely benign
Select item 2507283	NM_001007228.2(SPOP):c.1000G>T (p.Glu334Ter)	SPOP (E334*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2662243	NM_001007228.2(SPOP):c.946C>T (p.Gln316Ter)	SPOP (Q316*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2647889	NM_001007228.2(SPOP):c.903C>T (p.Asn301=)	SPOP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2343769	NM_001007228.2(SPOP):c.895G>A (p.Val299Met)	SPOP (V299M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 162201	NM_001007228.2(SPOP):c.887A>T (p.Asn296Ile)	SPOP (N296I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2637266	NM_001007228.2(SPOP):c.781_783del (p.Gly261del)	SPOP (G261del)	Deletion (inframe_deletion)	SPOP-related disorder	GUncertain significance
Select item 2217093	NM_001007228.2(SPOP):c.779C>T (p.Thr260Met)	SPOP (T260M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2574333	NM_001007228.2(SPOP):c.622G>A (p.Gly208Ser)	SPOP (G208S)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 3363544	NM_001007228.2(SPOP):c.590C>G (p.Ser197Cys)	SPOP (S197C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2436315	NM_001007228.2(SPOP):c.582G>T (p.Trp194Cys)	SPOP (W194C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3250968	NM_001007228.2(SPOP):c.577C>G (p.Leu193Val)	SPOP (L193V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1677201	NM_001007228.2(SPOP):c.565G>T (p.Glu189Ter)	SPOP (E189*)	Single nucleotide variant (nonsense)	not specified	GUncertain significance
Select item 2436314	NM_001007228.2(SPOP):c.548A>C (p.Glu183Ala)	SPOP (E183A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3253407	NM_001007228.2(SPOP):c.508A>G (p.Ile170Val)	SPOP (I170V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3365558	NM_001007228.2(SPOP):c.485G>A (p.Ser162Asn)	SPOP (S162N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 694202	NM_001007228.2(SPOP):c.480+1071G>T	SPOP	Single nucleotide variant (intron variant)	Malignant tumor of prostate	GUncertain significance
Select item 694201	NM_001007228.2(SPOP):c.480+1065A>G	SPOP	Single nucleotide variant (intron variant)	Malignant tumor of prostate	GUncertain significance
Select item 694200	NM_001007228.2(SPOP):c.480+1059A>G	SPOP	Single nucleotide variant (intron variant)	Malignant tumor of prostate	GUncertain significance
Select item 694207	NM_001007228.2(SPOP):c.480+51T>G	SPOP	Single nucleotide variant (intron variant)	Malignant tumor of prostate	GUncertain significance
Select item 694206	NM_001007228.2(SPOP):c.480+39A>T	SPOP	Single nucleotide variant (intron variant)	Malignant tumor of prostate	GUncertain significance
Select item 694205	NM_001007228.2(SPOP):c.480+38G>A	SPOP	Single nucleotide variant (intron variant)	Malignant tumor of prostate	GUncertain significance
Select item 694204	NM_001007228.2(SPOP):c.480+28G>C	SPOP	Single nucleotide variant (intron variant)	Malignant tumor of prostate	GUncertain significance
Select item 694203	NM_001007228.2(SPOP):c.480+17T>G	SPOP	Single nucleotide variant (intron variant)	Malignant tumor of prostate	GUncertain significance
Select item 694208	NM_001007228.2(SPOP):c.480+5G>T	SPOP	Single nucleotide variant (intron variant)	Malignant tumor of prostate	GUncertain significance
Select item 694199	NM_001007228.2(SPOP):c.478G>A (p.Glu160Lys)	SPOP (E160K)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with microcephaly and dysmorphic facies	GPathogenic
Select item 694198	NM_001007228.2(SPOP):c.475del (p.Cys159fs)	SPOP (C159fs)	Deletion (frameshift variant)	Malignant tumor of prostate	GUncertain significance
Select item 694197	NM_001007228.2(SPOP):c.474del (p.Cys159fs)	SPOP (C159fs)	Deletion (frameshift variant)	Malignant tumor of prostate	GUncertain significance
Select item 694196	NM_001007228.2(SPOP):c.474C>G (p.Phe158Leu)	SPOP (F158L)	Single nucleotide variant (missense variant)	Malignant tumor of prostate	GUncertain significance
Select item 694082	NM_001007228.2(SPOP):c.474C>A (p.Phe158Leu)	SPOP (F158L)	Single nucleotide variant (missense variant)	Malignant tumor of prostate	GUncertain significance
Select item 694195	NM_001007228.2(SPOP):c.473T>G (p.Phe158Cys)	SPOP (F158C)	Single nucleotide variant (missense variant)	Malignant tumor of prostate	GUncertain significance
Select item 694194	NM_001007228.2(SPOP):c.473T>A (p.Phe158Tyr)	SPOP (F158Y)	Single nucleotide variant (missense variant)	Malignant tumor of prostate	GUncertain significance
Select item 694193	NM_001007228.2(SPOP):c.472T>C (p.Phe158Leu)	SPOP (F158L)	Single nucleotide variant (missense variant)	Malignant tumor of prostate	GUncertain significance
Select item 694192	NM_001007228.2(SPOP):c.472T>A (p.Phe158Ile)	SPOP (F158I)	Single nucleotide variant (missense variant)	Malignant tumor of prostate	GUncertain significance
Select item 694191	NM_001007228.2(SPOP):c.470T>C (p.Leu157Pro)	SPOP (L157P)	Single nucleotide variant (missense variant)	Malignant tumor of prostate	GUncertain significance
Select item 694127	NM_001007228.2(SPOP):c.470del (p.Leu157fs)	SPOP (L157fs)	Deletion (frameshift variant)	Malignant tumor of prostate	GUncertain significance
Select item 2584445	NM_001007228.2(SPOP):c.468_469insAA (p.Leu157fs)	SPOP (L157fs)	Insertion (frameshift variant)	Nabais Sa-de Vries syndrome	GLikely pathogenic
Select item 694126	NM_001007228.2(SPOP):c.469del (p.Leu157fs)	SPOP (L157fs)	Deletion (frameshift variant)	Malignant tumor of prostate	GUncertain significance
Select item 694125	NM_001007228.2(SPOP):c.469C>T (p.Leu157Phe)	SPOP (L157F)	Single nucleotide variant (missense variant)	Malignant tumor of prostate	GUncertain significance
Select item 694124	NM_001007228.2(SPOP):c.466A>T (p.Thr156Ser)	SPOP (T156S)	Single nucleotide variant (missense variant)	Malignant tumor of prostate	GUncertain significance
Select item 694123	NM_001007228.2(SPOP):c.466A>G (p.Thr156Ala)	SPOP (T156A)	Single nucleotide variant (missense variant)	Malignant tumor of prostate	GUncertain significance
Select item 694122	NM_001007228.2(SPOP):c.466A>C (p.Thr156Pro)	SPOP (T156P)	Single nucleotide variant (missense variant)	Malignant tumor of prostate	GUncertain significance
Select item 694121	NM_001007228.2(SPOP):c.464T>A (p.Leu155His)	SPOP (L155H)	Single nucleotide variant (missense variant)	Malignant tumor of prostate	GUncertain significance
Select item 694120	NM_001007228.2(SPOP):c.463C>T (p.Leu155Phe)	SPOP (L155F)	Single nucleotide variant (missense variant)	Malignant tumor of prostate	GUncertain significance
Select item 694119	NM_001007228.2(SPOP):c.457del (p.Asp153fs)	SPOP (D153fs)	Deletion (frameshift variant)	Malignant tumor of prostate	GUncertain significance
Select item 694118	NM_001007228.2(SPOP):c.456T>G (p.Asp152Glu)	SPOP (D152E)	Single nucleotide variant (missense variant)	Malignant tumor of prostate	GUncertain significance
Select item 694117	NM_001007228.2(SPOP):c.456T>A (p.Asp152Glu)	SPOP (D152E)	Single nucleotide variant (missense variant)	Malignant tumor of prostate	GUncertain significance
Select item 694116	NM_001007228.2(SPOP):c.456del (p.Asp152fs)	SPOP (D152fs)	Deletion (frameshift variant)	Malignant tumor of prostate	GUncertain significance
Select item 694115	NM_001007228.2(SPOP):c.454G>A (p.Asp152Asn)	SPOP (D152N)	Single nucleotide variant (missense variant)	Malignant tumor of prostate	GUncertain significance
Select item 694114	NM_001007228.2(SPOP):c.453T>G (p.Pro151=)	SPOP	Single nucleotide variant (synonymous variant)	Malignant tumor of prostate	GUncertain significance
Select item 694113	NM_001007228.2(SPOP):c.453del (p.Asp152fs)	SPOP (D152fs)	Deletion (frameshift variant)	Malignant tumor of prostate	GUncertain significance
Select item 830356	NM_001007228.2(SPOP):c.430G>A (p.Asp144Asn)	SPOP (D144N)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with microcephaly and dysmorphic facies	GPathogenic/Likely pathogenic
Select item 694112	NM_001007228.2(SPOP):c.429_430insT (p.Asp144Ter)	SPOP (D144*)	Insertion (nonsense)	Malignant tumor of prostate	GUncertain significance
Select item 694111	NM_001007228.2(SPOP):c.429_430del (p.Leu143_Asp144insTer)	SPOP	Deletion (frameshift variant)	Malignant tumor of prostate	GUncertain significance
Select item 694110	NM_001007228.2(SPOP):c.428T>G (p.Leu143Trp)	SPOP (L143W)	Single nucleotide variant (missense variant)	Malignant tumor of prostate	GUncertain significance
Select item 694109	NM_001007228.2(SPOP):c.427T>A (p.Leu143Met)	SPOP (L143M)	Single nucleotide variant (missense variant)	Malignant tumor of prostate	GUncertain significance
Select item 694108	NM_001007228.2(SPOP):c.424C>T (p.Leu142Phe)	SPOP (L142F)	Single nucleotide variant (missense variant)	Malignant tumor of prostate	GUncertain significance
Select item 694107	NM_001007228.2(SPOP):c.420T>G (p.Asp140Glu)	SPOP (D140E)	Single nucleotide variant (missense variant)	Malignant tumor of prostate	GUncertain significance
Select item 694106	NM_001007228.2(SPOP):c.419A>C (p.Asp140Ala)	SPOP (D140A)	Single nucleotide variant (missense variant)	Malignant tumor of prostate	GUncertain significance
Select item 694105	NM_001007228.2(SPOP):c.418del (p.Asp140fs)	SPOP (D140fs)	Deletion (frameshift variant)	Malignant tumor of prostate	GUncertain significance
Select item 694190	NM_001007228.2(SPOP):c.416del (p.Arg139fs)	SPOP (R139fs)	Deletion (frameshift variant)	Malignant tumor of prostate	GUncertain significance
Select item 694104	NM_001007228.2(SPOP):c.416G>A (p.Arg139Lys)	SPOP (R139K)	Single nucleotide variant (missense variant)	Malignant tumor of prostate	GUncertain significance
Select item 694081	NM_001007228.2(SPOP):c.414T>G (p.Arg138=)	SPOP	Single nucleotide variant (synonymous variant)	Malignant tumor of prostate	GUncertain significance
Select item 694189	NM_001007228.2(SPOP):c.413G>A (p.Arg138His)	SPOP (R138H)	Single nucleotide variant (missense variant)	Malignant tumor of prostate	GUncertain significance
Select item 830359	NM_001007228.2(SPOP):c.412C>T (p.Arg138Cys)	SPOP (R138C)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 694188	NM_001007228.2(SPOP):c.408C>A (p.Phe136Leu)	SPOP (F136L)	Single nucleotide variant (missense variant)	Malignant tumor of prostate	GUncertain significance
Select item 1302304	NM_001007228.2(SPOP):c.405A>T (p.Lys135Asn)	SPOP (K135N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 694187	NM_001007228.2(SPOP):c.402dup (p.Lys135fs)	SPOP (K135fs)	Duplication (frameshift variant)	Malignant tumor of prostate	GUncertain significance
Select item 694186	NM_001007228.2(SPOP):c.401del (p.Lys134fs)	SPOP (K134fs)	Deletion (frameshift variant)	Malignant tumor of prostate	GUncertain significance
Select item 694185	NM_001007228.2(SPOP):c.401A>G (p.Lys134Arg)	SPOP (K134R)	Single nucleotide variant (missense variant)	Malignant tumor of prostate	GUncertain significance
Select item 694184	NM_001007228.2(SPOP):c.400A>C (p.Lys134Gln)	SPOP (K134Q)	Single nucleotide variant (missense variant)	Malignant tumor of prostate	GUncertain significance
Select item 694183	NM_001007228.2(SPOP):c.399del (p.Phe133fs)	SPOP (F133fs)	Deletion (frameshift variant)	Malignant tumor of prostate	GUncertain significance
Select item 161487	NM_001007228.2(SPOP):c.399C>G (p.Phe133Leu)	SPOP (F133L)	Single nucleotide variant (missense variant)	Malignant tumor of prostate +1 more	GConflicting classifications of pathogenicity
Select item 376547	NM_001007228.2(SPOP):c.398T>C (p.Phe133Ser)	SPOP (F133S)	Single nucleotide variant (missense variant)	Prostate adenocarcinoma	GLikely pathogenic
Select item 376546	NM_001007228.2(SPOP):c.398T>G (p.Phe133Cys)	SPOP (F133C)	Single nucleotide variant (missense variant)	Prostate adenocarcinoma	GLikely pathogenic
Select item 694182	NM_001007228.2(SPOP):c.397T>C (p.Phe133Leu)	SPOP (F133L)	Single nucleotide variant (missense variant)	Malignant tumor of prostate	GUncertain significance
Select item 376548	NM_001007228.2(SPOP):c.397T>A (p.Phe133Ile)	SPOP (F133I)	Single nucleotide variant (missense variant)	Prostate adenocarcinoma +1 more	GConflicting classifications of pathogenicity
Select item 376545	NM_001007228.2(SPOP):c.397T>G (p.Phe133Val)	SPOP (F133V)	Single nucleotide variant (missense variant)	Prostate adenocarcinoma +1 more	GConflicting classifications of pathogenicity
Select item 830357	NM_001007228.2(SPOP):c.395G>T (p.Gly132Val)	SPOP (G132V)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with relative macrocephaly and with or without cardiac or endocrine anomalies	GLikely pathogenic
Select item 376552	NM_001007228.2(SPOP):c.393G>T (p.Trp131Cys)	SPOP (W131C)	Single nucleotide variant (missense variant)	Malignant neoplasm of body of uterus +1 more	GLikely pathogenic
Select item 376550	NM_001007228.2(SPOP):c.392G>C (p.Trp131Ser)	SPOP (W131S)	Single nucleotide variant (missense variant)	Prostate adenocarcinoma +1 more	GLikely pathogenic
Select item 376551	NM_001007228.2(SPOP):c.391T>A (p.Trp131Arg)	SPOP (W131R)	Single nucleotide variant (missense variant)	Malignant neoplasm of body of uterus +1 more	GLikely pathogenic
Select item 376549	NM_001007228.2(SPOP):c.391T>G (p.Trp131Gly)	SPOP (W131G)	Single nucleotide variant (missense variant)	Malignant neoplasm of body of uterus +1 more	GLikely pathogenic
Select item 694181	NM_001007228.2(SPOP):c.388G>T (p.Asp130Tyr)	SPOP (D130Y)	Single nucleotide variant (missense variant)	Malignant tumor of prostate	GUncertain significance
Select item 694180	NM_001007228.2(SPOP):c.388G>A (p.Asp130Asn)	SPOP (D130N)	Single nucleotide variant (missense variant)	Malignant tumor of prostate	GUncertain significance
Select item 694179	NM_001007228.2(SPOP):c.386A>C (p.Lys129Thr)	SPOP (K129T)	Single nucleotide variant (missense variant)	Malignant tumor of prostate	GUncertain significance
Select item 694178	NM_001007228.2(SPOP):c.384del (p.Asp130fs)	SPOP (D130fs)	Deletion (frameshift variant)	Malignant tumor of prostate	GUncertain significance
Select item 694177	NM_001007228.2(SPOP):c.384C>T (p.Gly128=)	SPOP	Single nucleotide variant (synonymous variant)	Malignant tumor of prostate	GUncertain significance
Select item 694176	NM_001007228.2(SPOP):c.384C>G (p.Gly128=)	SPOP	Single nucleotide variant (synonymous variant)	Malignant tumor of prostate	GUncertain significance
Select item 694175	NM_001007228.2(SPOP):c.384C>A (p.Gly128=)	SPOP	Single nucleotide variant (synonymous variant)	Malignant tumor of prostate	GUncertain significance
Select item 3252478	NM_001007228.2(SPOP):c.383G>T (p.Gly128Val)	SPOP (G128V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 694174	NM_001007228.2(SPOP):c.381A>G (p.Gln127=)	SPOP	Single nucleotide variant (synonymous variant)	Malignant tumor of prostate	GUncertain significance

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