55181[geneid] - ClinVar

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Items: 89

	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 151500	GRCh38/hg38 17q22-23.1(chr17:57418806-59735464)x1	C17orf47, CCDC182 +168 more	Copy number loss	See cases	GPathogenic
Select item 150741	GRCh38/hg38 17q22-23.1(chr17:59151705-59547602)x3	GDPD1, LINC01476 +20 more	Copy number gain	See cases	GLikely benign
Select item 147832	GRCh38/hg38 17q22-23.1(chr17:59151820-59547491)x3	GDPD1, LINC01476 +20 more	Copy number gain	See cases	GBenign
Select item 2402746	NM_018149.7(SMG8):c.8G>C (p.Gly3Ala)	SMG8 (G3A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2369759	NM_018149.7(SMG8):c.13G>A (p.Val5Met)	SMG8 (V5M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2228890	NM_018149.7(SMG8):c.41C>T (p.Ala14Val)	SMG8 (A14V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2634400	NM_018149.7(SMG8):c.70G>A (p.Gly24Arg)	SMG8 (G24R)	Single nucleotide variant (missense variant)	SMG8-related disorder	GUncertain significance
Select item 2647973	NM_018149.7(SMG8):c.174A>G (p.Leu58=)	SMG8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2328816	NM_018149.7(SMG8):c.179T>C (p.Leu60Pro)	SMG8 (L60P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3320964	NM_018149.7(SMG8):c.182A>T (p.Asn61Ile)	SMG8 (N61I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2672701	NM_018149.7(SMG8):c.285G>A (p.Glu95=)	SMG8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2485506	NM_018149.7(SMG8):c.350G>C (p.Arg117Pro)	SMG8 (R117P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2556034	NM_018149.7(SMG8):c.408C>A (p.Ser136Arg)	SMG8 (S136R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2647974	NM_018149.7(SMG8):c.432G>A (p.Gln144=)	SMG8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1064666	NM_018149.7(SMG8):c.441dup (p.Val148fs)	SMG8 (V148fs)	Duplication (frameshift variant)	Alzahrani-Kuwahara syndrome	GPathogenic
Select item 3320957	NM_018149.7(SMG8):c.476A>G (p.Asn159Ser)	SMG8 (N159S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2647975	NM_018149.7(SMG8):c.609A>C (p.Leu203=)	SMG8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1064668	NM_018149.7(SMG8):c.623A>G (p.His208Arg)	SMG8 (H208R)	Single nucleotide variant (missense variant)	Alzahrani-Kuwahara syndrome	GPathogenic
Select item 2150597	NM_018149.7(SMG8):c.632T>C (p.Leu211Pro)	SMG8 (L211P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3320963	NM_018149.7(SMG8):c.637G>C (p.Val213Leu)	SMG8 (V213L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2613411	NM_018149.7(SMG8):c.643C>A (p.Pro215Thr)	SMG8 (P215T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2060063	NM_018149.7(SMG8):c.680T>G (p.Phe227Cys)	SMG8 (F227C)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3166545	NM_018149.7(SMG8):c.681C>G (p.Phe227Leu)	SMG8 (F227L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2510949	NM_018149.7(SMG8):c.748G>C (p.Val250Leu)	SMG8 (V250L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3032972	NM_018149.7(SMG8):c.857C>G (p.Ala286Gly)	SMG8 (A286G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2920707	NM_018149.7(SMG8):c.971dup (p.Asn324fs)	SMG8 (N324fs)	Duplication (frameshift variant)	Alzahrani-Kuwahara syndrome	GPathogenic
Select item 3166540	NM_018149.7(SMG8):c.1015G>C (p.Val339Leu)	SMG8 (V339L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2297607	NM_018149.7(SMG8):c.1015G>A (p.Val339Ile)	SMG8 (V339I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3033024	NM_018149.7(SMG8):c.1057G>C (p.Asp353His)	SMG8 (D353H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3166541	NM_018149.7(SMG8):c.1067G>A (p.Arg356Lys)	SMG8 (R356K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2487551	NM_018149.7(SMG8):c.1133G>A (p.Arg378Gln)	SMG8 (R378Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3166542	NM_018149.7(SMG8):c.1155C>G (p.His385Gln)	SMG8 (H385Q)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 788609	NM_018149.7(SMG8):c.1157G>A (p.Ser386Asn)	SMG8 (S386N)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2647976	NM_018149.7(SMG8):c.1163AAC[1] (p.Gln389del)	SMG8 (Q389del)	Microsatellite (inframe_deletion)	not provided	GLikely benign
Select item 3068181	NM_018149.7(SMG8):c.1207G>T (p.Gly403Cys)	SMG8 (G403C)	Single nucleotide variant (missense variant)	Alzahrani-Kuwahara syndrome	GUncertain significance
Select item 2633686	NM_018149.7(SMG8):c.1259T>C (p.Leu420Pro)	SMG8 (L420P)	Single nucleotide variant (missense variant)	SMG8-related disorder	GUncertain significance
Select item 2601949	NM_018149.7(SMG8):c.1337A>T (p.Gln446Leu)	SMG8 (Q446L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2620876	NM_018149.7(SMG8):c.1351G>C (p.Ala451Pro)	SMG8 (A451P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3320960	NM_018149.7(SMG8):c.1354G>C (p.Ala452Pro)	SMG8 (A452P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2271226	NM_018149.7(SMG8):c.1411A>G (p.Thr471Ala)	SMG8 (T471A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2496099	NM_018149.7(SMG8):c.1439G>A (p.Ser480Asn)	SMG8 (S480N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3257688	NM_018149.7(SMG8):c.1524C>T (p.His508=)	SMG8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2503804	NM_018149.7(SMG8):c.1534del (p.Gln512fs)	SMG8 (Q512fs)	Deletion (frameshift variant)	Alzahrani-Kuwahara syndrome	GLikely pathogenic
Select item 2647977	NM_018149.7(SMG8):c.1541dup (p.Asn514fs)	SMG8 (N514fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 2647978	NM_018149.7(SMG8):c.1593T>C (p.Ala531=)	SMG8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2606580	NM_018149.7(SMG8):c.1598G>A (p.Arg533Gln)	SMG8 (R533Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2480118	NM_018149.7(SMG8):c.1631T>C (p.Phe544Ser)	SMG8 (F544S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2637611	NM_018149.7(SMG8):c.1667dup (p.Tyr556Ter)	SMG8 (Y556*)	Duplication (nonsense)	Alzahrani-Kuwahara syndrome	GPathogenic
Select item 2647979	NM_018149.7(SMG8):c.1767A>C (p.Lys589Asn)	SMG8 (K589N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2647980	NM_018149.7(SMG8):c.1769C>A (p.Pro590Gln)	SMG8 (P590Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2647981	NM_018149.7(SMG8):c.1788G>T (p.Pro596=)	SMG8	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3320958	NM_018149.7(SMG8):c.1811G>A (p.Arg604Gln)	SMG8 (R604Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3372969	NM_018149.7(SMG8):c.1816C>T (p.Arg606Ter)	SMG8 (R606*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2647982	NM_018149.7(SMG8):c.1863T>A (p.Asp621Glu)	SMG8 (D621E)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2278209	NM_018149.7(SMG8):c.1975G>C (p.Asp659His)	SMG8 (D659H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2544831	NM_018149.7(SMG8):c.2050C>T (p.Pro684Ser)	SMG8 (P684S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2354903	NM_018149.7(SMG8):c.2144C>T (p.Ala715Val)	SMG8 (A715V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3166543	NM_018149.7(SMG8):c.2149G>A (p.Gly717Arg)	SMG8 (G717R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3048743	NM_018149.7(SMG8):c.2209G>A (p.Val737Ile)	SMG8 (V737I)	Single nucleotide variant (missense variant)	SMG8-related disorder	GLikely benign
Select item 3320959	NM_018149.7(SMG8):c.2284A>G (p.Lys762Glu)	SMG8 (K762E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 790183	NM_018149.7(SMG8):c.2318C>T (p.Pro773Leu)	SMG8 (P773L)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2257077	NM_018149.7(SMG8):c.2336T>C (p.Phe779Ser)	SMG8 (F779S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2920699	NM_018149.7(SMG8):c.2435T>G (p.Leu812Ter)	SMG8 (L812*)	Single nucleotide variant (nonsense)	Alzahrani-Kuwahara syndrome	GPathogenic
Select item 2485264	NM_018149.7(SMG8):c.2483G>A (p.Arg828Lys)	SMG8 (R828K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1064667	NM_018149.7(SMG8):c.2515C>T (p.Arg839Ter)	SMG8 (R839*)	Single nucleotide variant (nonsense)	Alzahrani-Kuwahara syndrome	GPathogenic
Select item 2491803	NM_018149.7(SMG8):c.2663C>T (p.Pro888Leu)	SMG8 (P888L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2250844	NM_018149.7(SMG8):c.2723T>C (p.Met908Thr)	SMG8 (M908T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2632402	NM_018149.7(SMG8):c.2729T>G (p.Leu910Arg)	SMG8 (L910R)	Single nucleotide variant (missense variant)	SMG8-related disorder	GUncertain significance
Select item 2647983	NM_018149.7(SMG8):c.2749G>T (p.Ala917Ser)	SMG8 (A917S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2632723	NM_018149.7(SMG8):c.2779-10T>A	SMG8	Single nucleotide variant (intron variant)	SMG8-related disorder	GUncertain significance
Select item 2647984	NM_018149.7(SMG8):c.2805G>A (p.Pro935=)	SMG8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3053941	NM_018149.7(SMG8):c.*1G>T	SMG8	Single nucleotide variant (3 prime UTR variant)	SMG8-related disorder	GLikely benign
Select item 2426129	NC_000017.10:g.(?_56798087)_(57771213_?)dup	CLTC, DHX40 +8 more	Duplication	not provided	GUncertain significance
Select item 1412084	NC_000017.10:g.(?_54671585)_(59938900_?)dup	AKAP1, APPBP2 +54 more	Duplication	Meckel-Gruber syndrome +1 more	GUncertain significance
Select item 1340785	GRCh37/hg19 17q22-23.1(chr17:57177520-57616383)x3	GDPD1, PRR11 +4 more	Copy number gain	not provided	GUncertain significance
Select item 687159	GRCh37/hg19 17q22(chr17:57177648-57576615)x3	GDPD1, PRR11 +4 more	Copy number gain	not provided	GUncertain significance
Select item 685605	GRCh37/hg19 17q22(chr17:57059828-57375023)x3	GDPD1, PPM1E +4 more	Copy number gain	not provided	GUncertain significance
Select item 444851	GRCh37/hg19 17q22(chr17:57045488-57404278)x3	GDPD1, SMG8 +4 more	Copy number gain	not provided	GUncertain significance
Select item 443558	GRCh37/hg19 17q22-23.2(chr17:56623275-60285107)x1	APPBP2, BCAS3 +29 more	Copy number loss	See cases	GPathogenic
Select item 442518	GRCh37/hg19 17q22-23.1(chr17:57159678-57665342)x3	DHX40, GDPD1 +5 more	Copy number gain	See cases	GUncertain significance
Select item 441816	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3	ALOX12, ALOX12B +1143 more	Copy number gain	See cases	GPathogenic
Select item 441815	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)	SPEM2, TBCD +1143 more	Copy number gain	See cases	GPathogenic
Select item 441659	GRCh37/hg19 17q22-23.1(chr17:57070141-57752711)x3	CLTC, DHX40 +6 more	Copy number gain	See cases	GUncertain significance
Select item 395646	GRCh37/hg19 17q21.31-25.3(chr17:42580684-81085615)x3	AANAT, AATK +458 more	Copy number gain	See cases	GPathogenic
Select item 394267	GRCh37/hg19 17q22(chr17:52189051-57477162)x3	AKAP1, ANKFN1 +42 more	Copy number gain	See cases	GPathogenic
Select item 394158	GRCh37/hg19 17q21.33-23.2(chr17:49076980-58740945)x3	AKAP1, ANKFN1 +65 more	Copy number gain	See cases	GPathogenic
Select item 253549	GRCh37/hg19 17q22-23.3(chr17:56321134-62080001)x3	TANC2, DDX42 +66 more	Copy number gain	See cases	GPathogenic

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Items: 89