ClinVar for Gene (Select 140775) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3320919	NM_144775.3(SMCR8):c.338C>T (p.Pro113Leu)	SMCR8 (P113L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3320918	NM_144775.3(SMCR8):c.1851G>C (p.Gln617His)	SMCR8 (Q617H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3320917	NM_144775.3(SMCR8):c.1378A>G (p.Met460Val)	SMCR8 (M460V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3320916	NM_144775.3(SMCR8):c.1981C>T (p.Arg661Trp)	SMCR8 (R661W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3320915	NM_144775.3(SMCR8):c.1316A>T (p.Lys439Met)	SMCR8 (K439M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3320914	NM_144775.3(SMCR8):c.1315A>G (p.Lys439Glu)	SMCR8 (K439E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3320913	NM_144775.3(SMCR8):c.2420C>T (p.Thr807Met)	SMCR8 (T807M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3320912	NM_144775.3(SMCR8):c.838C>G (p.Gln280Glu)	SMCR8 (Q280E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3166460	NM_144775.3(SMCR8):c.92C>T (p.Ser31Leu)	SMCR8 (S31L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3166459	NM_144775.3(SMCR8):c.66T>A (p.Asn22Lys)	SMCR8 (N22K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3166458	NM_144775.3(SMCR8):c.464T>C (p.Met155Thr)	SMCR8 (M155T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3166457	NM_144775.3(SMCR8):c.407T>C (p.Val136Ala)	SMCR8 (V136A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3166456	NM_144775.3(SMCR8):c.2582A>C (p.Tyr861Ser)	SMCR8 (Y861S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3166455	NM_144775.3(SMCR8):c.2300G>T (p.Trp767Leu)	SMCR8 (W767L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3166454	NM_144775.3(SMCR8):c.2024C>T (p.Thr675Ile)	SMCR8 (T675I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3166453	NM_144775.3(SMCR8):c.2009A>G (p.Asn670Ser)	SMCR8 (N670S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3166452	NM_144775.3(SMCR8):c.1919G>A (p.Arg640Gln)	SMCR8 (R640Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3166450	NM_144775.3(SMCR8):c.1711G>A (p.Glu571Lys)	SMCR8 (E571K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3166449	NM_144775.3(SMCR8):c.1549A>T (p.Ile517Phe)	SMCR8 (I517F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3166448	NM_144775.3(SMCR8):c.1511G>A (p.Ser504Asn)	SMCR8 (S504N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3166446	NM_144775.3(SMCR8):c.1028A>G (p.His343Arg)	SMCR8 (H343R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063517	GRCh37/hg19 17p12-11.2(chr17:15759103-20564268)x1	ADORA2B, AKAP10 +61 more	Copy number loss	not specified	GPathogenic
Select item 3063486	GRCh37/hg19 17p13.3-11.2(chr17:525-21510992)x3	ABR, ACADVL +329 more	Copy number gain	not specified	GPathogenic
Select item 2685598	GRCh37/hg19 17p11.2(chr17:16651293-20450566)x1	AKAP10, ALDH3A1 +49 more	Copy number loss	not provided	GPathogenic
Select item 2685597	GRCh37/hg19 17p12-11.2(chr17:15694772-20582794)x1	ADORA2B, AKAP10 +61 more	Copy number loss	not provided	GPathogenic
Select item 2671583	Single allele	LGALS9C, MIR33B +30 more	Duplication	not provided	GPathogenic
Select item 2647557	NM_144775.3(SMCR8):c.1827T>G (p.Asp609Glu)	SMCR8 (D609E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2647556	NM_144775.3(SMCR8):c.504G>A (p.Gln168=)	SMCR8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2647555	NM_144775.3(SMCR8):c.321T>C (p.Pro107=)	SMCR8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2647554	NM_144775.3(SMCR8):c.97C>G (p.Pro33Ala)	SMCR8 (P33A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2608900	NM_144775.3(SMCR8):c.1196C>T (p.Pro399Leu)	SMCR8 (P399L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2606094	NM_144775.3(SMCR8):c.137C>T (p.Ser46Leu)	SMCR8 (S46L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2596870	NM_144775.3(SMCR8):c.352G>T (p.Val118Leu)	SMCR8 (V118L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2594171	NM_144775.3(SMCR8):c.1099A>G (p.Ile367Val)	SMCR8 (I367V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2561149	NM_144775.3(SMCR8):c.1483G>A (p.Val495Ile)	SMCR8 (V495I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2549877	NM_144775.3(SMCR8):c.2395G>A (p.Ala799Thr)	SMCR8 (A799T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2536914	NM_144775.3(SMCR8):c.1853G>A (p.Arg618His)	SMCR8 (R618H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2526568	NM_144775.3(SMCR8):c.214T>G (p.Leu72Val)	SMCR8 (L72V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2513645	NM_144775.3(SMCR8):c.2501G>A (p.Arg834His)	SMCR8 (R834H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2512252	NM_144775.3(SMCR8):c.2617G>A (p.Asp873Asn)	SMCR8 (D873N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2508434	NM_144775.3(SMCR8):c.769C>T (p.Pro257Ser)	SMCR8 (P257S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2506529	GRCh37/hg19 17p11.2(chr17:16664739-20370783)	MPRIP, NT5M +49 more	Copy number gain	Potocki-Lupski syndrome	GPathogenic
Select item 2498730	GRCh37/hg19 17p11.2(chr17:17116969-20217378)x1	LLGL1, MAPK7 +44 more	Copy number loss	not provided	GPathogenic
Select item 2474203	NM_144775.3(SMCR8):c.2320A>G (p.Ile774Val)	SMCR8 (I774V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2473210	NM_144775.3(SMCR8):c.898C>T (p.Pro300Ser)	SMCR8 (P300S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2464059	NM_144775.3(SMCR8):c.1612C>T (p.Pro538Ser)	SMCR8 (P538S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2457395	NM_144775.3(SMCR8):c.2500C>T (p.Arg834Cys)	SMCR8 (R834C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2456129	NM_144775.3(SMCR8):c.1802C>A (p.Pro601Gln)	SMCR8 (P601Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2425820	NC_000017.10:g.(?_16842861)_(19578885_?)dup	ALDH3A2, ALKBH5 +42 more	Duplication	Meckel-Gruber syndrome +2 more	GUncertain significance
Select item 2405071	NM_144775.3(SMCR8):c.718G>C (p.Glu240Gln)	SMCR8 (E240Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2405070	NM_144775.3(SMCR8):c.1540G>A (p.Glu514Lys)	SMCR8 (E514K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2404803	NM_144775.3(SMCR8):c.1073A>T (p.Asp358Val)	SMCR8 (D358V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2403442	NM_144775.3(SMCR8):c.2214A>C (p.Glu738Asp)	SMCR8 (E738D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2392228	NM_144775.3(SMCR8):c.1472C>T (p.Ala491Val)	SMCR8 (A491V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2356992	NM_144775.3(SMCR8):c.1688C>T (p.Pro563Leu)	SMCR8 (P563L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2354489	NM_144775.3(SMCR8):c.2365G>C (p.Ala789Pro)	SMCR8 (A789P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2339245	NM_144775.3(SMCR8):c.2486G>A (p.Arg829His)	SMCR8 (R829H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2337235	NM_144775.3(SMCR8):c.435G>T (p.Glu145Asp)	SMCR8 (E145D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2330708	NM_144775.3(SMCR8):c.2405G>A (p.Arg802His)	SMCR8 (R802H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2330645	NM_144775.3(SMCR8):c.1347C>G (p.Phe449Leu)	SMCR8 (F449L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2320362	NM_144775.3(SMCR8):c.2296C>T (p.His766Tyr)	SMCR8 (H766Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2309502	NM_144775.3(SMCR8):c.1159G>A (p.Glu387Lys)	SMCR8 (E387K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2306521	NM_144775.3(SMCR8):c.2315T>C (p.Leu772Ser)	SMCR8 (L772S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2297872	NM_144775.3(SMCR8):c.178A>C (p.Ile60Leu)	SMCR8 (I60L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2296068	NM_144775.3(SMCR8):c.736C>A (p.His246Asn)	SMCR8 (H246N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2288649	NM_144775.3(SMCR8):c.230A>G (p.Asn77Ser)	SMCR8 (N77S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2286556	NM_144775.3(SMCR8):c.1168C>T (p.Pro390Ser)	SMCR8 (P390S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2266153	NM_144775.3(SMCR8):c.1594G>T (p.Asp532Tyr)	SMCR8 (D532Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2260633	NM_144775.3(SMCR8):c.2251G>C (p.Ala751Pro)	SMCR8 (A751P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2252657	NM_144775.3(SMCR8):c.898C>G (p.Pro300Ala)	SMCR8 (P300A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2245041	NM_144775.3(SMCR8):c.1671C>A (p.Phe557Leu)	SMCR8 (F557L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2241120	NM_144775.3(SMCR8):c.1598T>C (p.Phe533Ser)	SMCR8 (F533S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2225491	NM_144775.3(SMCR8):c.2087G>C (p.Gly696Ala)	SMCR8 (G696A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2225457	NM_144775.3(SMCR8):c.776G>A (p.Arg259Gln)	SMCR8 (R259Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2216225	NM_144775.3(SMCR8):c.313G>T (p.Gly105Cys)	SMCR8 (G105C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2213096	NM_144775.3(SMCR8):c.2413C>T (p.Arg805Cys)	SMCR8 (R805C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2212452	NM_144775.3(SMCR8):c.2098G>A (p.Asp700Asn)	SMCR8 (D700N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1808657	GRCh37/hg19 17p11.2(chr17:17103571-19331028)x3	ALKBH5, ATPAF2 +38 more	Copy number gain	not provided	GPathogenic
Select item 1710929	GRCh37/hg19 17p11.2(chr17:16736709-20339460)x3	AKAP10, ALDH3A1 +47 more	Copy number gain	See cases	GUncertain significance
Select item 1703602	Single allele	ADORA2B, AKAP10 +78 more	Complex	PMP22-RAI1 contiguous gene duplication syndrome	GPathogenic
Select item 1703566	GRCh37/hg19 17p11.2(chr17:17151140-20187953)	AKAP10, ALDH3A1 +43 more	Copy number loss	Smith-Magenis syndrome	GPathogenic
Select item 1703565	GRCh37/hg19 17p11.2(chr17:16651292-20286898)	AKAP10, ALDH3A1 +48 more	Copy number loss	Smith-Magenis syndrome	GPathogenic
Select item 1703554	GRCh37/hg19 17p11.2(chr17:17579860-18469185)	ALKBH5, ATPAF2 +16 more	Copy number gain	Potocki-Lupski syndrome	GPathogenic
Select item 1675695	GRCh37/hg19 17p11.2(chr17:16664739-20217378)x1	ALKBH5, ATPAF2 +48 more	Copy number loss	not provided	GPathogenic
Select item 1330162	GRCh37/hg19 17p11.2(chr17:16829153-20361747)x3	AKAP10, ALDH3A1 +48 more	Copy number gain	Potocki-Lupski syndrome	GPathogenic
Select item 1047866	GRCh37/hg19 17p11.2(chr17:16601603-20063369)	AKAP10, ALDH3A1 +48 more	Copy number gain	Potocki-Lupski syndrome	GPathogenic
Select item 1047863	GRCh37/hg19 17p11.2(chr17:17145361-20137943)	AKAP10, ALDH3A1 +43 more	Copy number loss	Smith-Magenis syndrome	GPathogenic
Select item 982661	NM_144775.3(SMCR8):c.2404C>T (p.Arg802Cys)	SMCR8 (R802C)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder	GUncertain significance
Select item 980120	GRCh37/hg19 17p12-11.2(chr17:15810015-18537436)x1	ADORA2B, ALKBH5 +37 more	Copy number loss	not provided	GPathogenic
Select item 980116	GRCh37/hg19 17p11.2(chr17:18125256-18304190)x3	EVPLL, FLII +5 more	Copy number gain	not provided	GUncertain significance
Select item 980115	GRCh37/hg19 17p11.2(chr17:16763370-20395611)x1	AKAP10, ALDH3A1 +48 more	Copy number loss	not provided	GPathogenic
Select item 980114	GRCh37/hg19 17p11.2(chr17:16761814-20330062)x3	SMCR8, SNORD3A +47 more	Copy number gain	not provided	GPathogenic
Select item 815908	GRCh37/hg19 17p12-11.2(chr17:15632431-18726389)x1	ADORA2B, ALKBH5 +42 more	Copy number loss	not provided	GPathogenic
Select item 782548	NM_144775.3(SMCR8):c.1165A>G (p.Ile389Val)	SMCR8 (I389V)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 638113	GRCh37/hg19 17p11.2(chr17:16908991-18322254)x1	ALKBH5, ATPAF2 +23 more	Copy number loss	See cases	GPathogenic
Select item 625730	GRCh37/hg19 17p11.2(chr17:16842991-20217316)	AKAP10, ALDH3A1 +47 more	Copy number loss	Smith-Magenis syndrome	GPathogenic
Select item 564413	GRCh37/hg19 17p11.2(chr17:17021607-20015978)x1	AKAP10, ALDH3A1 +46 more	Copy number loss	not provided	GPathogenic
Select item 564412	GRCh37/hg19 17p11.2(chr17:16999980-20298979)x1	AKAP10, ALDH3A1 +46 more	Copy number loss	not provided	GPathogenic
Select item 564411	GRCh37/hg19 17p11.2(chr17:16761814-20292897)x3	AKAP10, ALDH3A1 +47 more	Copy number gain	not provided	GPathogenic
Select item 564409	GRCh37/hg19 17p11.2(chr17:16741411-20430791)x1	AKAP10, ALDH3A1 +48 more	Copy number loss	not provided	GPathogenic

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