SYNRG[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58166	GRCh37/hg19 17q12(chr17:34310998-36297053)x3	AATF, ACACA +48 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 58167	GRCh37/hg19 17q12(chr17:34360168-36209228)x3	AATF, ACACA +44 more	Copy number gain	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 160929	GRCh37/hg19 17q12(chr17:34508117-36248918)x3	AATF, ACACA +39 more	Copy number gain	See cases	GPathogenic
Select item 60470	GRCh37/hg19 17q12(chr17:34508117-36173763)x1	AATF, ACACA +38 more	Copy number loss	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 155596	GRCh37/hg19 17q12(chr17:34822465-36283612)x3	AATF, ACACA +29 more	Copy number gain	See cases	GLikely pathogenic
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 152579	GRCh37/hg19 17q12(chr17:34856055-36248859)x3	AATF, ACACA +29 more	Copy number gain	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 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 60472	GRCh37/hg19 17q12(chr17:34817422-36168104)x1	AATF, ACACA +28 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 57515	GRCh37/hg19 17q12(chr17:34899836-36177728)x1	AATF, ACACA +28 more	Copy number loss	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 154939	GRCh37/hg19 17q12(chr17:35800407-35926911)x1	DUSP14, LOC126862546 +3 more	Copy number loss	See cases	GUncertain significance
Select item 58695	GRCh37/hg19 17q12(chr17:35958761-36224189)x3	DDX52, HNF1B +7 more	Copy number gain	See cases	GPathogenic
Select item 2499653	GRCh38/hg38 17q12(chr17:36138501-37924067)	AATF, ACACA +41 more	Copy number gain	Anomalous pulmonary venous return	GPathogenic
Select item 545219	NC_000017.11:g.(?_36143765)_(37995300_?)del	AATF, ACACA +42 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 161041	GRCh38/hg38 17q12(chr17:36357258-37889296)x1	AATF, ACACA +35 more	Copy number loss	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 149866	GRCh38/hg38 17q12(chr17:36357258-38225796)x3	AATF, ACACA +41 more	Copy number gain	See cases	GLikely pathogenic
Select item 57382	GRCh38/hg38 17q12(chr17:36357258-37889296)x1	AATF, ACACA +35 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 545222	NC_000017.11:g.(?_36446252)_(37887875_?)del	AATF, ACACA +33 more	Deletion	Autism	GPathogenic
Select item 148853	GRCh38/hg38 17q12(chr17:36446545-38225796)x1	AATF, ACACA +39 more	Copy number loss	See cases	GPathogenic
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 149614	GRCh38/hg38 17q12(chr17:36461608-37889296)x3	AATF, ACACA +33 more	Copy number gain	See cases	GLikely pathogenic
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 60473	GRCh38/hg38 17q12(chr17:36493974-37890225)x1	AATF, ACACA +33 more	Copy number loss	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 32491	GRCh38/hg38 17q12(chr17:36500215-37889296)x3	ACACA, C17orf78 +32 more	Copy number gain	See cases	GPathogenic
Select item 149644	GRCh38/hg38 17q12(chr17:36500465-37889304)x1	AATF, ACACA +32 more	Copy number loss	See cases	GPathogenic
Select item 153059	GRCh38/hg38 17q12(chr17:36566143-37808105)x3	AATF, ACACA +29 more	Copy number gain	See cases	GUncertain significance
Select item 1338823	GRCh38/hg38 17q12(chr17:36719878-37889304)	AATF, ACACA +25 more	Copy number loss	Diaphragmatic eventration	GUncertain significance
Select item 872716	NM_007247.6(SYNRG):c.3813+5G>A	SYNRG	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2647695	NM_007247.6(SYNRG):c.3777+3A>G	SYNRG	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2412223	NM_007247.6(SYNRG):c.3718A>G (p.Lys1240Glu)	SYNRG (K1117E +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2553950	NM_007247.6(SYNRG):c.3678C>G (p.Asn1226Lys)	SYNRG (N1020K +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2258668	NM_007247.6(SYNRG):c.3671A>G (p.Asp1224Gly)	SYNRG (D1146G +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3045173	NM_007247.6(SYNRG):c.3639C>T (p.Ile1213=)	SYNRG	Single nucleotide variant (synonymous variant)	SYNRG-related disorder	GLikely benign
Select item 2351244	NM_007247.6(SYNRG):c.3622G>A (p.Val1208Ile)	SYNRG (V1002I +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1693513	NM_007247.6(SYNRG):c.3605T>C (p.Leu1202Pro)	SYNRG (L1079P +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3053579	NM_007247.6(SYNRG):c.3579G>C (p.Val1193=)	SYNRG	Single nucleotide variant (synonymous variant)	SYNRG-related disorder	GLikely benign
Select item 3040271	NM_007247.6(SYNRG):c.3518-6C>T	SYNRG	Single nucleotide variant (intron variant)	SYNRG-related disorder	GLikely benign
Select item 2313817	NM_007247.6(SYNRG):c.3427A>G (p.Lys1143Glu)	SYNRG (K1065E +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3172921	NM_007247.6(SYNRG):c.3325G>A (p.Val1109Ile)	SYNRG (V1030I +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3053694	NM_007247.6(SYNRG):c.3312G>A (p.Lys1104=)	SYNRG	Single nucleotide variant (synonymous variant)	SYNRG-related disorder	GLikely benign
Select item 2635597	NM_007247.6(SYNRG):c.3280T>G (p.Phe1094Val)	SYNRG (F1015V +5 more)	Single nucleotide variant (missense variant)	SYNRG-related disorder	GUncertain significance
Select item 3055135	NM_007247.6(SYNRG):c.3238G>A (p.Glu1080Lys)	SYNRG (E1001K +5 more)	Single nucleotide variant (missense variant)	SYNRG-related disorder	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 3054010	NM_007247.6(SYNRG):c.3063G>A (p.Ser1021=)	LOC126862546, SYNRG	Single nucleotide variant (synonymous variant)	SYNRG-related disorder	GLikely benign
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 3045164	NM_007247.6(SYNRG):c.2989G>C (p.Glu997Gln)	LOC126862546, SYNRG (E1098Q +5 more)	Single nucleotide variant (missense variant)	SYNRG-related disorder	GBenign
Select item 3324000	NM_007247.6(SYNRG):c.2984C>T (p.Thr995Met)	LOC126862546, SYNRG (T789M +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 3052889	NM_007247.6(SYNRG):c.2960A>C (p.Asp987Ala)	LOC126862546, SYNRG (D1088A +5 more)	Single nucleotide variant (missense variant)	SYNRG-related disorder	GLikely benign
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 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 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 3041461	NM_007247.6(SYNRG):c.2886A>C (p.Pro962=)	LOC126862546, SYNRG	Single nucleotide variant (synonymous variant)	SYNRG-related disorder	GBenign
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 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 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 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 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 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 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 2240623	NM_007247.6(SYNRG):c.2600C>T (p.Pro867Leu)	SYNRG (P867L +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3172915	NM_007247.6(SYNRG):c.2576C>A (p.Pro859Gln)	SYNRG (P698Q +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2369053	NM_007247.6(SYNRG):c.2383G>A (p.Glu795Lys)	SYNRG (E896K +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3172913	NM_007247.6(SYNRG):c.2302C>T (p.Pro768Ser)	SYNRG (P690S +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3172912	NM_007247.6(SYNRG):c.2300C>G (p.Thr767Ser)	SYNRG (T606S +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3324008	NM_007247.6(SYNRG):c.2194G>A (p.Val732Met)	SYNRG (V653M +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2593342	NM_007247.6(SYNRG):c.2182G>A (p.Val728Met)	SYNRG (V567M +4 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2300931	NM_007247.6(SYNRG):c.2128G>T (p.Asp710Tyr)	SYNRG (D549Y +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2259202	NM_007247.6(SYNRG):c.2104A>G (p.Ile702Val)	SYNRG (I702V +4 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3324004	NM_007247.6(SYNRG):c.1994G>T (p.Ser665Ile)	SYNRG (S504I +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2353227	NM_007247.6(SYNRG):c.1984A>G (p.Lys662Glu)	SYNRG (K662E +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3172910	NM_007247.6(SYNRG):c.1982C>T (p.Thr661Ile)	SYNRG (T762I +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2614889	NM_007247.6(SYNRG):c.1979C>T (p.Ala660Val)	SYNRG (A581V +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2647696	NM_007247.6(SYNRG):c.1917A>G (p.Thr639=)	SYNRG	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2306469	NM_007247.6(SYNRG):c.1903G>C (p.Ala635Pro)	SYNRG (A347P +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3172909	NM_007247.6(SYNRG):c.1877G>A (p.Ser626Asn)	SYNRG (S465N +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2372840	NM_007247.6(SYNRG):c.1798A>G (p.Ile600Val)	SYNRG (I439V +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2387404	NM_007247.6(SYNRG):c.1795A>G (p.Thr599Ala)	SYNRG (T520A +5 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2360910	NM_007247.6(SYNRG):c.1777C>G (p.Pro593Ala)	SYNRG (P305A +5 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3324007	NM_007247.6(SYNRG):c.1750C>G (p.Pro584Ala)	SYNRG (P505A +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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