ClinVar for Gene (Select 126862546) - ClinVar

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Links from Gene

Items: 63

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3172920	NM_007247.6(SYNRG):c.2963T>C (p.Phe988Ser)	LOC126862546, SYNRG (F782S +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3172919	NM_007247.6(SYNRG):c.2893G>C (p.Ala965Pro)	LOC126862546, SYNRG (A1066P +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3172918	NM_007247.6(SYNRG):c.2866C>T (p.Leu956Phe)	LOC126862546, SYNRG (L750F +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3172917	NM_007247.6(SYNRG):c.2768C>T (p.Thr923Ile)	LOC126862546, SYNRG (T717I +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3172916	NM_007247.6(SYNRG):c.2728C>A (p.Pro910Thr)	LOC126862546, SYNRG (P831T +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3054010	NM_007247.6(SYNRG):c.3063G>A (p.Ser1021=)	LOC126862546, SYNRG	Single nucleotide variant (synonymous variant)	SYNRG-related condition	GLikely benign
Select item 3052889	NM_007247.6(SYNRG):c.2960A>C (p.Asp987Ala)	LOC126862546, SYNRG (D1088A +5 more)	Single nucleotide variant (missense variant)	SYNRG-related condition	GLikely benign
Select item 3045164	NM_007247.6(SYNRG):c.2989G>C (p.Glu997Gln)	LOC126862546, SYNRG (E1098Q +5 more)	Single nucleotide variant (missense variant)	SYNRG-related condition	GBenign
Select item 3041461	NM_007247.6(SYNRG):c.2886A>C (p.Pro962=)	LOC126862546, SYNRG	Single nucleotide variant (synonymous variant)	SYNRG-related condition	GBenign
Select item 3024382	GRCh38/hg38 17q12(chr17:36466109-37946106)	LOC110120863, LOC112529910 +34 more	Copy number loss	Autism spectrum disorder	GPathogenic
Select item 2579204	GRCh38/hg38 17q12(chr17:36486532-37745203)x1	AATF, ACACA +32 more	Copy number loss	Chromosome 17q12 deletion syndrome	GPathogenic
Select item 2499653	GRCh38/hg38 17q12(chr17:36138501-37924067)	LOC126862543, LOC126862544 +41 more	Copy number gain	Anomalous pulmonary venous return	GPathogenic
Select item 2473164	NM_007247.6(SYNRG):c.2663T>C (p.Val888Ala)	LOC126862546, SYNRG (V810A +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2380431	NM_007247.6(SYNRG):c.2813A>C (p.Asn938Thr)	LOC126862546, SYNRG (N732T +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2307077	NM_007247.6(SYNRG):c.3182C>G (p.Thr1061Ser)	LOC126862546, SYNRG (T938S +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2301429	NM_007247.6(SYNRG):c.3018C>A (p.Ser1006Arg)	LOC126862546, SYNRG (S1107R +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2278751	NM_007247.6(SYNRG):c.2909C>T (p.Thr970Met)	LOC126862546, SYNRG (T847M +5 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2254988	NM_007247.6(SYNRG):c.2758C>T (p.Pro920Ser)	LOC126862546, SYNRG (P920S +5 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 1342537	NM_007247.6(SYNRG):c.2905G>A (p.Asp969Asn)	LOC126862546, SYNRG (D763N +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1338823	GRCh38/hg38 17q12(chr17:36719878-37889304)	DDX52, AATF +25 more	Copy number loss	Diaphragmatic eventration	GUncertain significance
Select item 872717	NM_007247.6(SYNRG):c.2813A>G (p.Asn938Ser)	LOC126862546, SYNRG (N732S +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 545222	NC_000017.11:g.(?_36446252)_(37887875_?)del	AATF, ACACA +33 more	Deletion	Autism	GPathogenic
Select item 545221	Single allele	AATF, ACACA +37 more	Duplication	Autism	GLikely pathogenic
Select item 545220	NC_000017.11:g.(?_36357256)_(37995300_?)del	AATF, ACACA +37 more	Deletion	Schizophrenia	GPathogenic
Select item 545219	NC_000017.11:g.(?_36143765)_(37995300_?)del	AATF, ACACA +42 more	Deletion	Autism	GPathogenic
Select item 161041	GRCh38/hg38 17q12(chr17:36357258-37889296)x1	AATF, ACACA +35 more	Copy number loss	See cases	GPathogenic
Select item 160929	GRCh37/hg19 17q12(chr17:34508117-36248918)x3	TBC1D3F, TBC1D3G +39 more	Copy number gain	See cases	GPathogenic
Select item 160879	GRCh38/hg38 17q12(chr17:36357258-37889296)x3	AATF, ACACA +35 more	Copy number gain	See cases	GPathogenic
Select item 160874	GRCh38/hg38 17q12(chr17:36500215-37889296)x1	AATF, ACACA +32 more	Copy number loss	See cases	GPathogenic
Select item 155596	GRCh37/hg19 17q12(chr17:34822465-36283612)x3	AATF, ACACA +29 more	Copy number gain	See cases	GLikely pathogenic
Select item 154939	GRCh37/hg19 17q12(chr17:35800407-35926911)x1	DUSP14, LOC126862546 +3 more	Copy number loss	See cases	GUncertain significance
Select item 154005	GRCh37/hg19 17q12(chr17:34822465-36283807)x1	AATF, ACACA +29 more	Copy number loss	See cases	GPathogenic
Select item 153885	GRCh37/hg19 17q12(chr17:34822466-36316161)x1	AATF, ACACA +30 more	Copy number loss	See cases	GPathogenic
Select item 153855	GRCh37/hg19 17q12(chr17:34822466-36283612)x1	AATF, ACACA +29 more	Copy number loss	See cases	GPathogenic
Select item 153818	GRCh37/hg19 17q12(chr17:34822465-36350005)x3	AATF, ACACA +31 more	Copy number gain	See cases	GLikely pathogenic
Select item 153746	GRCh37/hg19 17q12(chr17:34822466-36307773)x1	AATF, ACACA +30 more	Copy number loss	See cases	GPathogenic
Select item 153717	GRCh37/hg19 17q12(chr17:34822466-36393628)x1	AATF, ACACA +31 more	Copy number loss	See cases	GPathogenic
Select item 153446	GRCh37/hg19 17q12(chr17:34437482-36244358)x3	AATF, ACACA +39 more	Copy number gain	See cases	GLikely pathogenic
Select item 153059	GRCh38/hg38 17q12(chr17:36566143-37808105)x3	AATF, ACACA +29 more	Copy number gain	See cases	GUncertain significance
Select item 152579	GRCh37/hg19 17q12(chr17:34856055-36248859)x3	AATF, ACACA +29 more	Copy number gain	See cases	GPathogenic
Select item 151517	GRCh37/hg19 17q12(chr17:34360168-36248859)x1	AATF, ACACA +44 more	Copy number loss	See cases	GPathogenic
Select item 149866	GRCh38/hg38 17q12(chr17:36357258-38225796)x3	AATF, ACACA +41 more	Copy number gain	See cases	GLikely pathogenic
Select item 149644	GRCh38/hg38 17q12(chr17:36500465-37889304)x1	AATF, ACACA +32 more	Copy number loss	See cases	GPathogenic
Select item 149614	GRCh38/hg38 17q12(chr17:36461608-37889296)x3	AATF, ACACA +33 more	Copy number gain	See cases	GLikely pathogenic
Select item 148853	GRCh38/hg38 17q12(chr17:36446545-38225796)x1	AATF, ACACA +39 more	Copy number loss	See cases	GPathogenic
Select item 148852	GRCh37/hg19 17q12(chr17:34817422-36188700)x1	AATF, ACACA +29 more	Copy number loss	See cases	GPathogenic
Select item 148363	GRCh38/hg38 17q23.1-25.1(chr17:36449220-75053130)x3	ABCA10, ADAM11 +2032 more	Copy number gain	See cases	GPathogenic
Select item 144685	GRCh37/hg19 17q12(chr17:35076189-36248926)x1	AATF, ACACA +25 more	Copy number loss	See cases	GPathogenic
Select item 60477	GRCh37/hg19 17q12(chr17:34899836-36224189)x1	AATF, ACACA +29 more	Copy number loss	See cases	GPathogenic
Select item 60474	GRCh37/hg19 17q12(chr17:34851537-36173763)x1	AATF, ACACA +28 more	Copy number loss	See cases	GPathogenic
Select item 60473	GRCh38/hg38 17q12(chr17:36493974-37890225)x1	AATF, ACACA +33 more	Copy number loss	See cases	GPathogenic
Select item 60472	GRCh37/hg19 17q12(chr17:34817422-36168104)x1	AATF, ACACA +28 more	Copy number loss	See cases	GPathogenic
Select item 60471	GRCh38/hg38 17q12(chr17:36422657-37890225)x1	AATF, ACACA +34 more	Copy number loss	See cases	GPathogenic
Select item 60470	GRCh37/hg19 17q12(chr17:34508117-36173763)x1	MIR2909, MIR378J +38 more	Copy number loss	See cases	GPathogenic
Select item 58169	GRCh37/hg19 17q12(chr17:34817422-36173763)x3	AATF, ACACA +28 more	Copy number gain	See cases	GPathogenic
Select item 58168	GRCh37/hg19 17q12(chr17:34815184-36209228)x3	AATF, ACACA +29 more	Copy number gain	See cases	GPathogenic
Select item 58167	GRCh37/hg19 17q12(chr17:34360168-36209228)x3	AATF, ACACA +44 more	Copy number gain	See cases	GPathogenic
Select item 58166	GRCh37/hg19 17q12(chr17:34310998-36297053)x3	AATF, ACACA +48 more	Copy number gain	See cases	GPathogenic
Select item 57515	GRCh37/hg19 17q12(chr17:34899836-36177728)x1	AATF, ACACA +28 more	Copy number loss	See cases	GPathogenic
Select item 57382	GRCh38/hg38 17q12(chr17:36357258-37889296)x1	AATF, ACACA +35 more	Copy number loss	See cases	GPathogenic
Select item 57282	GRCh38/hg38 17q21.33-24.2(chr17:36449220-68170214)x3	LOC130060795, LOC130060796 +1753 more	Copy number gain	See cases	GPathogenic
Select item 32504	GRCh37/hg19 17q12(chr17:34508117-36248918)x3	AATF, ACACA +39 more	Copy number gain	See cases	GPathogenic
Select item 32491	GRCh38/hg38 17q12(chr17:36500215-37889296)x3	AATF, ACACA +32 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 63