17809[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154232	GRCh38/hg38 17p13.3(chr17:150732-3242868)x1	LOC130059960, LOC130059961 +224 more	Copy number loss	See cases	GPathogenic
Select item 154089	GRCh38/hg38 17p13.3-12(chr17:150732-14764202)x3	ABR, ABR-AS1 +962 more	Copy number gain	See cases	GPathogenic
Select item 153177	GRCh38/hg38 17p13.3-13.2(chr17:150732-5935377)x1	ABR, ABR-AS1 +463 more	Copy number loss	See cases	GPathogenic
Select item 149531	GRCh38/hg38 17p13.3-12(chr17:162016-12343901)x3	MIR4521, MIR497 +922 more	Copy number gain	See cases	GPathogenic
Select item 149193	GRCh38/hg38 17p13.3(chr17:162016-2099130)x1	ABR, ABR-AS1 +144 more	Copy number loss	See cases	GLikely pathogenic
Select item 149158	GRCh38/hg38 17p13.3-13.1(chr17:162016-7697012)x1	OR1D4, OR1D5 +651 more	Copy number loss	See cases	GPathogenic
Select item 144699	GRCh38/hg38 17p13.3-13.1(chr17:162088-6959050)x1	C17orf107, C17orf114 +498 more	Copy number loss	See cases	GPathogenic
Select item 2579287	GRCh38/hg38 17p13.3-12(chr17:165730-11404096)x3	LOC130060077, LOC130060078 +911 more	Copy number gain	Chromosome 17p13.3 duplication syndrome	GPathogenic
Select item 59542	GRCh38/hg38 17p13.3-13.2(chr17:193307-5652222)x1	LOC130060025, LOC130060026 +458 more	Copy number loss	See cases	GPathogenic
Select item 154373	GRCh38/hg38 17p13.3-13.2(chr17:198748-4265640)x1	ABR, ABR-AS1 +303 more	Copy number loss	See cases	GPathogenic
Select item 145643	GRCh38/hg38 17p13.3(chr17:198748-2685361)x1	ABR, ABR-AS1 +197 more	Copy number loss	See cases	GPathogenic
Select item 145642	GRCh38/hg38 17p13.3-13.1(chr17:198748-7491129)x3	ABR, ABR-AS1 +604 more	Copy number gain	See cases	GPathogenic
Select item 57445	GRCh38/hg38 17p13.3(chr17:198748-2261786)x1	CRK, DPH1 +163 more	Copy number loss	See cases	GPathogenic
Select item 57265	GRCh38/hg38 17p13.3(chr17:198748-3102332)x1	ABR, ABR-AS1 +217 more	Copy number loss	See cases	GPathogenic
Select item 146594	GRCh38/hg38 17p13.3-13.2(chr17:226472-3655099)x1	ABR, ABR-AS1 +243 more	Copy number loss	See cases	GPathogenic
Select item 58652	GRCh38/hg38 17p13.3(chr17:234496-2385512)x3	ABR, ABR-AS1 +178 more	Copy number gain	See cases	GPathogenic
Select item 153060	GRCh38/hg38 17p13.3-13.2(chr17:237248-4735533)x1	ABR, ABR-AS1 +352 more	Copy number loss	See cases	GPathogenic
Select item 58655	GRCh38/hg38 17p13.3(chr17:436763-2527511)x3	ABR, ABR-AS1 +180 more	Copy number gain	See cases	GPathogenic
Select item 58657	GRCh38/hg38 17p13.3(chr17:445331-2385512)x3	ABR, ABR-AS1 +168 more	Copy number gain	See cases	GPathogenic
Select item 57425	GRCh38/hg38 17p13.3(chr17:644280-2193615)x3	ABR, ABR-AS1 +134 more	Copy number gain	See cases	GPathogenic
Select item 57165	GRCh38/hg38 17p13.3(chr17:1065649-2261786)x1	ABR, ABR-AS1 +119 more	Copy number loss	See cases	GPathogenic
Select item 149499	GRCh38/hg38 17p13.3(chr17:1227392-2261993)x1	ABR, BHLHA9 +114 more	Copy number loss	See cases	GPathogenic
Select item 155112	GRCh38/hg38 17p13.3(chr17:1227482-2082382)x1	ABR, BHLHA9 +86 more	Copy number loss	See cases	GLikely pathogenic
Select item 147453	GRCh38/hg38 17p13.3(chr17:1227482-2261786)x3	ABR, BHLHA9 +114 more	Copy number gain	See cases	GLikely pathogenic
Select item 58671	GRCh38/hg38 17p13.3(chr17:1287199-3154232)x3	CCDC92B, CLUH +164 more	Copy number gain	See cases	GPathogenic
Select item 148529	GRCh38/hg38 17p13.3-13.2(chr17:1348488-3513273)x3	ASPA, CCDC92B +174 more	Copy number gain	See cases	GLikely pathogenic
Select item 149147	GRCh38/hg38 17p13.3(chr17:1742705-2952264)x1	CCDC92B, CLUH +122 more	Copy number loss	See cases	GPathogenic
Select item 150607	GRCh38/hg38 17p13.3(chr17:1808796-2403389)x3	DPH1, HIC1 +90 more	Copy number gain	See cases	GUncertain significance
Select item 149261	GRCh38/hg38 17p13.3(chr17:2012699-2644858)x1	DPH1, HIC1 +94 more	Copy number loss	See cases	GPathogenic
Select item 3166523	NM_017575.5(SMG6):c.4241C>T (p.Thr1414Met)	HIC1, SMG6 (T325M +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3166522	NM_017575.5(SMG6):c.4231G>C (p.Ala1411Pro)	HIC1, SMG6 (A503P +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3166521	NM_017575.5(SMG6):c.4220G>A (p.Arg1407Gln)	HIC1, SMG6 (R1407Q +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 144239	GRCh38/hg38 17p13.3-13.2(chr17:2062380-5258340)x1	ALOX15, ANKFY1 +303 more	Copy number loss	See cases	GPathogenic
Select item 150948	GRCh38/hg38 17p13.3-13.2(chr17:2062429-4141883)x3	OR1E2, OR1G1 +166 more	Copy number gain	See cases	GPathogenic
Select item 2456173	NM_017575.5(SMG6):c.4127A>G (p.Lys1376Arg)	SMG6 (K468R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2592601	NM_017575.5(SMG6):c.4120G>A (p.Ala1374Thr)	SMG6 (A466T +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3166519	NM_017575.5(SMG6):c.4040G>A (p.Gly1347Asp)	SMG6 (G1347D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2457194	NM_017575.5(SMG6):c.4015G>A (p.Ala1339Thr)	SMG6 (A250T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2556110	NM_017575.5(SMG6):c.3961C>T (p.Arg1321Trp)	SMG6 (R1321W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3166518	NM_017575.5(SMG6):c.3923G>A (p.Arg1308His)	SMG6 (R1308H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2240264	NM_017575.5(SMG6):c.3883C>T (p.Arg1295Trp)	SMG6 (R1295W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3166517	NM_017575.5(SMG6):c.3873G>C (p.Glu1291Asp)	SMG6 (E1291D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3166516	NM_017575.5(SMG6):c.3853G>A (p.Gly1285Ser)	SMG6 (G1285S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2349227	NM_017575.5(SMG6):c.3842A>G (p.Asn1281Ser)	SMG6 (N1281S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2607658	NM_017575.5(SMG6):c.3788C>T (p.Ala1263Val)	SMG6 (A1263V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 756784	NM_017575.5(SMG6):c.3724G>A (p.Glu1242Lys)	SMG6 (E334K +2 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3166515	NM_017575.5(SMG6):c.3686T>C (p.Val1229Ala)	SMG6 (V321A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3166514	NM_017575.5(SMG6):c.3657G>T (p.Gln1219His)	SMG6 (Q1219H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2559040	NM_017575.5(SMG6):c.3610G>C (p.Glu1204Gln)	SMG6 (E115Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2362886	NM_017575.5(SMG6):c.3581A>G (p.Glu1194Gly)	SMG6 (E1194G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 789651	NM_017575.5(SMG6):c.3565G>A (p.Glu1189Lys)	SMG6 (E100K +2 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3166513	NM_017575.5(SMG6):c.3488T>C (p.Met1163Thr)	SMG6 (M1163T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2545150	NM_017575.5(SMG6):c.3352G>A (p.Asp1118Asn)	SMG6 (D1118N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3166512	NM_017575.5(SMG6):c.3269T>C (p.Ile1090Thr)	SMG6 (I1090T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2397931	NM_017575.5(SMG6):c.3245C>T (p.Pro1082Leu)	SMG6 (P174L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2610324	NM_017575.5(SMG6):c.3225G>C (p.Glu1075Asp)	SMG6 (E167D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 151498	GRCh38/hg38 17p13.3(chr17:2178377-2223722)x3	LOC107988047, LOC110120951 +4 more	Copy number gain	See cases	GLikely benign
Select item 3166511	NM_017575.5(SMG6):c.3121A>T (p.Asn1041Tyr)	SMG6 (N1041Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2522019	NM_017575.5(SMG6):c.3067C>T (p.Leu1023Phe)	SMG6 (L115F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2205722	NM_017575.5(SMG6):c.3050C>T (p.Pro1017Leu)	SMG6 (P109L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3166510	NM_017575.5(SMG6):c.3038C>T (p.Ser1013Phe)	SMG6 (S1013F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3166509	NM_017575.5(SMG6):c.3025G>A (p.Asp1009Asn)	SMG6 (D101N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2344722	NM_017575.5(SMG6):c.2984A>G (p.Lys995Arg)	SMG6 (K87R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2318162	NM_017575.5(SMG6):c.2891G>A (p.Arg964His)	SMG6 (R56H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3166508	NM_017575.5(SMG6):c.2890C>T (p.Arg964Cys)	SMG6 (R964C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2600872	NM_017575.5(SMG6):c.2816T>C (p.Met939Thr)	SMG6 (M31T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2337101	NM_017575.5(SMG6):c.2813G>A (p.Arg938His)	SMG6 (R30H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 147865	GRCh38/hg38 17p13.3(chr17:2254635-2699329)x3	CLUH, LOC105371490 +38 more	Copy number gain	See cases	GUncertain significance
Select item 147702	GRCh38/hg38 17p13.3(chr17:2254635-2331068)x1	LOC130059943, LOC130059944 +7 more	Copy number loss	See cases	GBenign
Select item 148996	GRCh38/hg38 17p13.3(chr17:2261727-2502345)x1	LOC111413025, LOC130059945 +25 more	Copy number loss	See cases	GLikely benign
Select item 2276207	NM_017575.5(SMG6):c.2651G>A (p.Ser884Asn)	SMG6 (S884N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2558705	NM_017575.5(SMG6):c.2591C>T (p.Ser864Phe)	SMG6 (S864F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2276206	NM_017575.5(SMG6):c.2584C>G (p.Pro862Ala)	SMG6 (P862A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3166507	NM_017575.5(SMG6):c.2531G>A (p.Arg844Gln)	SMG6 (R844Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3166506	NM_017575.5(SMG6):c.2474A>G (p.His825Arg)	SMG6 (H825R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2308574	NM_017575.5(SMG6):c.2360A>T (p.Tyr787Phe)	SMG6 (Y787F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2494290	NM_017575.5(SMG6):c.2110A>G (p.Met704Val)	SMG6 (M704V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3166504	NM_017575.5(SMG6):c.2064G>C (p.Leu688Phe)	SMG6 (L688F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2246511	NM_017575.5(SMG6):c.2057A>G (p.Asp686Gly)	SMG6 (D686G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3166503	NM_017575.5(SMG6):c.2020C>A (p.Leu674Ile)	SMG6 (L674I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2211897	NM_017575.5(SMG6):c.1896G>C (p.Glu632Asp)	SMG6 (E632D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2269435	NM_017575.5(SMG6):c.1882C>G (p.Leu628Val)	SMG6 (L628V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2410837	NM_017575.5(SMG6):c.1874G>A (p.Arg625His)	SMG6 (R625H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 151248	GRCh38/hg38 17p13.3(chr17:2298292-2728190)x1	CCDC92B, CLUH +38 more	Copy number loss	See cases	GPathogenic
Select item 2487974	NM_017575.5(SMG6):c.1836G>T (p.Met612Ile)	SMG6 (M612I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2328596	NM_017575.5(SMG6):c.1757G>C (p.Arg586Pro)	SMG6 (R586P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2322816	NM_017575.5(SMG6):c.1756C>T (p.Arg586Trp)	SMG6 (R586W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2527798	NM_017575.5(SMG6):c.1609G>T (p.Gly537Cys)	SMG6 (G537C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2603768	NM_017575.5(SMG6):c.1580C>T (p.Pro527Leu)	SMG6 (P527L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2243144	NM_017575.5(SMG6):c.1565A>G (p.Tyr522Cys)	SMG6 (Y522C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3166501	NM_017575.5(SMG6):c.1534C>T (p.Arg512Trp)	SMG6 (R512W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3166500	NM_017575.5(SMG6):c.1419G>T (p.Gln473His)	SMG6 (Q473H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3166499	NM_017575.5(SMG6):c.1397C>G (p.Ala466Gly)	SMG6 (A466G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2299910	NM_017575.5(SMG6):c.1340G>C (p.Gly447Ala)	SMG6 (G447A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3166498	NM_017575.5(SMG6):c.1275A>G (p.Pro425=)	SMG6	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 2308419	NM_017575.5(SMG6):c.1261T>C (p.Ser421Pro)	SMG6 (S421P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2545539	NM_017575.5(SMG6):c.1259A>G (p.Asn420Ser)	SMG6 (N420S +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2603693	NM_017575.5(SMG6):c.1255G>T (p.Val419Phe)	SMG6 (V388F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3166496	NM_017575.5(SMG6):c.1216C>G (p.Arg406Gly)	SMG6 (R375G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2288090	NM_017575.5(SMG6):c.1210C>T (p.Arg404Cys)	SMG6 (R373C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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