ClinVar for Gene (Select 11276) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3346733	NM_007247.6(SYNRG):c.145G>A (p.Gly49Arg)	SYNRG (G48R +1 more)	Single nucleotide variant (missense variant)	SYNRG-related disorder	GUncertain significance
Select item 3338433	GRCh37/hg19 17q12(chr17:34842442-36065085)x3	AATF, ACACA +13 more	Copy number gain	Hyperphosphatasia with intellectual disability syndrome 5	GLikely pathogenic
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 3324007	NM_007247.6(SYNRG):c.1750C>G (p.Pro584Ala)	SYNRG (P505A +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3324006	NM_007247.6(SYNRG):c.68G>C (p.Gly23Ala)	SYNRG (G23A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3324005	NM_007247.6(SYNRG):c.1655A>G (p.Lys552Arg)	SYNRG (K391R +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 3324003	NM_007247.6(SYNRG):c.109C>A (p.Pro37Thr)	SYNRG (P37T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3324002	NM_007247.6(SYNRG):c.134T>G (p.Met45Arg)	SYNRG (M45R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3324001	NM_007247.6(SYNRG):c.1105G>A (p.Val369Ile)	SYNRG (V291I +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
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 3242217	GRCh37/hg19 17q12-22(chr17:41196270-41277589)	SLC4A1, DCAKD +422 more	Copy number loss	Breast-ovarian cancer, familial, susceptibility to, 1	GPathogenic
Select item 3172926	NM_007247.6(SYNRG):c.623G>C (p.Cys208Ser)	SYNRG (C208S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3172925	NM_007247.6(SYNRG):c.616G>C (p.Val206Leu)	SYNRG (V206L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3172924	NM_007247.6(SYNRG):c.50C>T (p.Ala17Val)	SYNRG (A17V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3172923	NM_007247.6(SYNRG):c.4G>T (p.Ala2Ser)	SYNRG (A2S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3172922	NM_007247.6(SYNRG):c.458T>C (p.Leu153Ser)	SYNRG (L152S +1 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 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 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 3172914	NM_007247.6(SYNRG):c.242C>G (p.Ala81Gly)	SYNRG (A80G +1 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 3172911	NM_007247.6(SYNRG):c.217T>C (p.Ser73Pro)	SYNRG (S72P +1 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 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 3172908	NM_007247.6(SYNRG):c.1699G>T (p.Asp567Tyr)	SYNRG (D406Y +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3148907	GRCh37/hg19 17q12(chr17:34822466-36378678)x1	AATF, ACACA +15 more	Copy number loss	See cases	GPathogenic
Select item 3148903	GRCh37/hg19 17q12(chr17:34822466-36307773)x1	AATF, ACACA +14 more	Copy number loss	See cases	GPathogenic
Select item 3063508	GRCh37/hg19 17q12(chr17:35010975-35932571)x3	AATF, ACACA +5 more	Copy number gain	not specified	GUncertain significance
Select item 3063498	GRCh37/hg19 17q12(chr17:34425362-36371146)x3	AATF, ACACA +23 more	Copy number gain	not specified	GPathogenic
Select item 3061586	NM_007247.6(SYNRG):c.1716T>A (p.Asp572Glu)	SYNRG (D284E +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 3055051	NM_007247.6(SYNRG):c.1216C>A (p.Pro406Thr)	SYNRG (P118T +4 more)	Single nucleotide variant (missense variant +1 more)	SYNRG-related disorder	GLikely benign
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 3053694	NM_007247.6(SYNRG):c.3312G>A (p.Lys1104=)	SYNRG	Single nucleotide variant (synonymous variant)	SYNRG-related disorder	GLikely benign
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 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 3046909	NM_007247.6(SYNRG):c.612C>T (p.Phe204=)	SYNRG	Single nucleotide variant (synonymous variant +1 more)	SYNRG-related disorder	GLikely benign
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 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 3041461	NM_007247.6(SYNRG):c.2886A>C (p.Pro962=)	LOC126862546, SYNRG	Single nucleotide variant (synonymous variant)	SYNRG-related disorder	GBenign
Select item 3041248	NM_007247.6(SYNRG):c.544G>A (p.Asp182Asn)	SYNRG (D181N +1 more)	Single nucleotide variant (missense 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 3024382	GRCh38/hg38 17q12(chr17:36466109-37946106)	LOC110120863, LOC112529910 +34 more	Copy number loss	Autism spectrum disorder	GPathogenic
Select item 2684847	GRCh37/hg19 17q12(chr17:35932816-36068121)x3	DDX52, HNF1B +1 more	Copy number gain	not provided	GUncertain significance
Select item 2684846	GRCh37/hg19 17q12(chr17:34440083-36410559)x3	AATF, ACACA +22 more	Copy number gain	not provided	GPathogenic
Select item 2671580	Single allele	AATF, ACACA +13 more	Deletion	not provided	GPathogenic
Select item 2647696	NM_007247.6(SYNRG):c.1917A>G (p.Thr639=)	SYNRG	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2647695	NM_007247.6(SYNRG):c.3777+3A>G	SYNRG	Single nucleotide variant (intron variant)	not provided	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 2632370	NM_007247.6(SYNRG):c.372-1G>A	SYNRG	Single nucleotide variant (splice acceptor variant)	SYNRG-related disorder	GUncertain significance
Select item 2619892	NM_007247.6(SYNRG):c.1222G>A (p.Gly408Ser)	SYNRG (G120S +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2616539	NM_007247.6(SYNRG):c.1214T>C (p.Ile405Thr)	SYNRG (I117T +4 more)	Single nucleotide variant (missense variant +1 more)	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 2614017	NM_007247.6(SYNRG):c.1676C>G (p.Ala559Gly)	SYNRG (A271G +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2610362	NM_007247.6(SYNRG):c.1215A>G (p.Ile405Met)	SYNRG (I327M +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2609579	NM_007247.6(SYNRG):c.1442C>T (p.Pro481Leu)	SYNRG (P320L +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2605820	NM_007247.6(SYNRG):c.821G>A (p.Ser274Asn)	SYNRG (S274N +1 more)	Single nucleotide variant (missense variant +1 more)	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 2580315	GRCh37/hg19 17q12(chr17:34752221-36105007)x3	AATF, ACACA +14 more	Copy number gain	Chromosome 17q12 deletion syndrome	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 2556199	NM_007247.6(SYNRG):c.377G>A (p.Arg126Gln)	SYNRG (R126Q +1 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 2545277	NM_007247.6(SYNRG):c.1552A>G (p.Lys518Glu)	SYNRG (K439E +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2538818	NM_007247.6(SYNRG):c.577C>T (p.Pro193Ser)	SYNRG (P193S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2519905	NM_007247.6(SYNRG):c.1658C>G (p.Pro553Arg)	SYNRG (P392R +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2512074	NM_007247.6(SYNRG):c.781G>A (p.Ala261Thr)	SYNRG (A261T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2510395	NM_007247.6(SYNRG):c.154A>T (p.Met52Leu)	SYNRG (M52L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2506537	GRCh37/hg19 17q12(chr17:34842545-36293050)	AATF, ACACA +14 more	Copy number loss	HNF1B-related disorder	GPathogenic
Select item 2499653	GRCh38/hg38 17q12(chr17:36138501-37924067)	AATF, ACACA +41 more	Copy number gain	Anomalous pulmonary venous return	GPathogenic
Select item 2481914	NM_007247.6(SYNRG):c.1102G>T (p.Gly368Cys)	SYNRG (G368C +4 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 2445208	Single allele	AATF, ACACA +13 more	Deletion	See cases	GLikely pathogenic
Select item 2423122	NC_000017.10:g.(?_34892951)_(36104875_?)dup	AATF, ACACA +11 more	Duplication	Hyperphosphatasia with intellectual disability syndrome 5	GUncertain significance
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 2403136	NM_007247.6(SYNRG):c.134T>C (p.Met45Thr)	SYNRG (M44T +1 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 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 2376113	NM_007247.6(SYNRG):c.1193C>T (p.Pro398Leu)	SYNRG (P398L +4 more)	Single nucleotide variant (missense variant +1 more)	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 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 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 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 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 2327523	NM_007247.6(SYNRG):c.68G>T (p.Gly23Val)	SYNRG (G23V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2323118	NM_007247.6(SYNRG):c.1031G>A (p.Arg344Gln)	SYNRG (R266Q +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2320761	NM_007247.6(SYNRG):c.1556G>T (p.Gly519Val)	SYNRG (G358V +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 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 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 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 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 2289327	NM_007247.6(SYNRG):c.1348G>A (p.Val450Ile)	SYNRG (V372I +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2289019	NM_007247.6(SYNRG):c.896T>C (p.Val299Ala)	SYNRG (V299A +4 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

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