ClinVar for Gene (Select 7732) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3154946	NM_007148.5(RNF112):c.961T>A (p.Ser321Thr)	RNF112 (S321T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3154945	NM_007148.5(RNF112):c.859G>A (p.Asp287Asn)	RNF112 (D287N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3154944	NM_007148.5(RNF112):c.604G>A (p.Gly202Ser)	RNF112 (G202S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3154943	NM_007148.5(RNF112):c.580C>T (p.Pro194Ser)	RNF112 (P194S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3154942	NM_007148.5(RNF112):c.1592C>T (p.Thr531Met)	RNF112 (T531M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3154941	NM_007148.5(RNF112):c.1442G>T (p.Arg481Leu)	RNF112 (R481L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3154940	NM_007148.5(RNF112):c.1404C>A (p.Phe468Leu)	RNF112 (F468L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3154938	NM_007148.5(RNF112):c.1369G>A (p.Asp457Asn)	RNF112 (D457N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3154937	NM_007148.5(RNF112):c.1319G>A (p.Arg440Lys)	RNF112 (R440K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3154936	NM_007148.5(RNF112):c.1208G>A (p.Arg403His)	RNF112 (R403H)	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 2684839	GRCh37/hg19 17p11.2-11.1(chr17:18614422-22227823)x3	AKAP10, ALDH3A1 +29 more	Copy number gain	not provided	GUncertain significance
Select item 2647562	NM_007148.5(RNF112):c.1675A>G (p.Met559Val)	RNF112 (M559V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2621666	NM_007148.5(RNF112):c.1369G>C (p.Asp457His)	RNF112 (D457H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2545637	NM_007148.5(RNF112):c.757A>T (p.Ser253Cys)	RNF112 (S253C)	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	AKAP10, ALDH3A1 +44 more	Copy number loss	not provided	GPathogenic
Select item 2495956	NM_007148.5(RNF112):c.853G>T (p.Asp285Tyr)	RNF112 (D285Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2478548	NM_007148.5(RNF112):c.1002C>G (p.Ile334Met)	RNF112 (I334M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2465980	NM_007148.5(RNF112):c.664G>A (p.Ala222Thr)	RNF112 (A222T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2456733	NM_007148.5(RNF112):c.661C>T (p.Leu221Phe)	RNF112 (L221F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2425820	NC_000017.10:g.(?_16842861)_(19578885_?)dup	ALDH3A2, ALKBH5 +42 more	Duplication	Familial aplasia of the vermis +2 more	GUncertain significance
Select item 2422990	NC_000017.10:g.(?_19246632)_(19578885_?)dup	ALDH3A2, B9D1 +4 more	Duplication	not provided	GUncertain significance
Select item 2407498	NM_007148.5(RNF112):c.1180A>C (p.Ser394Arg)	RNF112 (S394R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2398551	NM_007148.5(RNF112):c.194G>A (p.Arg65His)	RNF112 (R65H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2377778	NM_007148.5(RNF112):c.502C>G (p.Pro168Ala)	RNF112 (P168A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2370178	NM_007148.5(RNF112):c.517G>A (p.Ala173Thr)	RNF112 (A173T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2350172	NM_007148.5(RNF112):c.1108G>A (p.Gly370Ser)	RNF112 (G370S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2342748	NM_007148.5(RNF112):c.124C>A (p.Leu42Ile)	RNF112 (L42I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2322064	NM_007148.5(RNF112):c.628T>A (p.Ser210Thr)	RNF112 (S210T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2306173	NM_007148.5(RNF112):c.1223G>C (p.Trp408Ser)	RNF112 (W408S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2299790	NM_007148.5(RNF112):c.1094G>A (p.Arg365Gln)	RNF112 (R365Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2280883	NM_007148.5(RNF112):c.1198G>A (p.Ala400Thr)	RNF112 (A400T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2280625	NM_007148.5(RNF112):c.1165G>A (p.Val389Ile)	RNF112 (V389I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2253501	NM_007148.5(RNF112):c.940G>T (p.Asp314Tyr)	RNF112 (D314Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2241414	NM_007148.5(RNF112):c.155G>A (p.Arg52Gln)	RNF112 (R52Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2228868	NM_007148.5(RNF112):c.122A>G (p.Glu41Gly)	RNF112 (E41G)	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 1675695	GRCh37/hg19 17p11.2(chr17:16664739-20217378)x1	GID4, GRAP +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 980119	GRCh37/hg19 17p11.2(chr17:18746987-20231379)x1	ULK2, SLC47A2 +16 more	Copy number loss	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 726542	NM_007148.5(RNF112):c.744A>G (p.Thr248=)	RNF112	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 720535	NM_007148.5(RNF112):c.1797C>T (p.Gly599=)	RNF112	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 688255	GRCh37/hg19 17p11.2(chr17:19144143-20231379)x3	AKAP10, ALDH3A1 +10 more	Copy number gain	not provided	GUncertain significance
Select item 625730	GRCh37/hg19 17p11.2(chr17:16842991-20217316)	AKAP10, ALDH3A1 +47 more	Copy number loss	Smith-Magenis syndrome	GPathogenic
Select item 564418	GRCh37/hg19 17p11.2(chr17:18743223-20246715)x3	AKAP10, B9D1 +16 more	Copy number gain	not provided	GUncertain significance
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
Select item 564408	GRCh37/hg19 17p11.2(chr17:16727264-20310241)x1	GID4, GRAP +47 more	Copy number loss	not provided	GPathogenic
Select item 545218	NC_000017.11:g.(?_16770855)_(20585863_?)del	AKAP10, ALDH3A1 +252 more	Deletion	Autism	GPathogenic
Select item 545217	Single allele	DRC3, LOC130060351 +248 more	Duplication	Autism	GPathogenic
Select item 523257	GRCh37/hg19 17p11.2(chr17:16842163-20217777)	COPS3, DRC3 +47 more	Copy number gain	Delayed gross motor development +3 more	GPathogenic
Select item 523256	GRCh37/hg19 17p11.2(chr17:16782546-20294038)	TRIM16L, MED9 +47 more	Copy number loss	Pes valgus +9 more	GPathogenic
Select item 496743	arr[hg19]17p11.2(16,757,111-20,219,651)x3	MYO15A, NT5M +47 more	Duplication	Potocki-Lupski syndrome	GPathogenic
Select item 443760	GRCh37/hg19 17p11.2(chr17:16761814-20339795)x3	AKAP10, ALDH3A1 +47 more	Copy number gain	See cases	GPathogenic
Select item 443148	GRCh37/hg19 17p11.2(chr17:16745600-20396173)x1	AKAP10, ALDH3A1 +48 more	Copy number loss	See cases	GPathogenic
Select item 442933	GRCh37/hg19 17p11.2(chr17:17200426-21900910)x1	B9D1, AKAP10 +51 more	Copy number loss	See cases	GPathogenic
Select item 442905	GRCh37/hg19 17p11.2(chr17:16651292-20437532)x3	AKAP10, ALDH3A1 +49 more	Copy number gain	See cases	GPathogenic
Select item 442859	GRCh37/hg19 17p11.2(chr17:19144143-20231379)x1	AKAP10, ALDH3A1 +10 more	Copy number loss	See cases	GLikely pathogenic
Select item 442858	GRCh37/hg19 17p11.2(chr17:19144143-20231379)x3	AKAP10, ALDH3A1 +10 more	Copy number gain	See cases	GUncertain significance
Select item 442795	GRCh37/hg19 17p11.2(chr17:16591260-20473937)x3	AKAP10, ALDH3A1 +49 more	Copy number gain	See cases	GPathogenic
Select item 442542	GRCh37/hg19 17p11.2(chr17:16741411-20410218)x1	AKAP10, ALDH3A1 +48 more	Copy number loss	See cases	GPathogenic
Select item 442368	GRCh37/hg19 17p11.2(chr17:16772264-20297091)x1	AKAP10, ALDH3A1 +47 more	Copy number loss	See cases	GPathogenic
Select item 442167	GRCh37/hg19 17p11.2(chr17:16738161-20338182)x3	AKAP10, ALDH3A1 +47 more	Copy number gain	See cases	GPathogenic
Select item 441899	GRCh37/hg19 17p11.2(chr17:16741411-20489023)x1	AKAP10, ALDH3A1 +49 more	Copy number loss	See cases	GPathogenic
Select item 441875	GRCh37/hg19 17p11.2(chr17:16727264-20395889)x1	AKAP10, ALDH3A1 +48 more	Copy number loss	See cases	GPathogenic
Select item 441841	GRCh37/hg19 17p11.2(chr17:16727264-20413564)x1	AKAP10, ALDH3A1 +48 more	Copy number loss	See cases	GPathogenic
Select item 441816	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3	EFTUD2, EIF1 +1143 more	Copy number gain	See cases	GPathogenic
Select item 441815	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)	KRT15, KRT16 +1143 more	Copy number gain	See cases	GPathogenic
Select item 395659	GRCh37/hg19 17p11.2(chr17:16637902-20261250)x1	AKAP10, ALDH3A1 +48 more	Copy number loss	See cases	GPathogenic
Select item 394560	GRCh37/hg19 17p12-11.2(chr17:15745315-20261191)x1	ADORA2B, AKAP10 +59 more	Copy number loss	See cases	GPathogenic
Select item 394152	GRCh37/hg19 17p11.2(chr17:16757564-20261191)x1	AKAP10, ALDH3A1 +47 more	Copy number loss	See cases	GPathogenic
Select item 393895	GRCh37/hg19 17p11.2(chr17:16603130-20261191)x1	AKAP10, ALDH3A1 +48 more	Copy number loss	See cases	GPathogenic
Select item 393812	GRCh37/hg19 17p11.2(chr17:16740141-20261191)x3	AKAP10, ALDH3A1 +47 more	Copy number gain	See cases	GPathogenic
Select item 253648	GRCh37/hg19 17p11.2(chr17:16654302-20261250)x1	AKAP10, ALDH3A1 +48 more	Copy number loss	See cases	GPathogenic
Select item 253611	GRCh37/hg19 17p12-11.2(chr17:15767020-20261250)x3	ADORA2B, AKAP10 +59 more	Copy number gain	See cases	GPathogenic
Select item 253426	GRCh37/hg19 17p11.2(chr17:17053390-19893098)x1	EPN2, EVPLL +45 more	Copy number loss	See cases	GPathogenic
Select item 155648	GRCh38/hg38 17p11.2(chr17:16426633-20998588)x3	LOC130060361, LOC130060362 +281 more	Copy number gain	See cases	GPathogenic
Select item 155583	GRCh38/hg38 17p12-11.2(chr17:15850859-20649235)x1	FAM106C, FAM83G +311 more	Copy number loss	See cases	GPathogenic
Select item 155529	GRCh38/hg38 17p11.2(chr17:16853120-20436482)x1	AKAP10, ALDH3A1 +243 more	Copy number loss	See cases	GPathogenic
Select item 155418	GRCh38/hg38 17p12-11.2(chr17:15729893-20510251)x1	LOC126862516, LOC126862517 +314 more	Copy number loss	See cases	GPathogenic
Select item 155350	GRCh38/hg38 17p11.2(chr17:16718415-20546210)x3	AKAP10, ALDH3A1 +252 more	Copy number gain	See cases	GPathogenic
Select item 155314	GRCh38/hg38 17p11.2(chr17:16696708-20492860)x3	LOC130060442, LOC130060443 +251 more	Copy number gain	See cases	GPathogenic
Select item 155143	GRCh38/hg38 17p11.2(chr17:16858500-20559337)x1	AKAP10, ALDH3A1 +246 more	Copy number loss	See cases	GPathogenic
Select item 155114	GRCh38/hg38 17p11.2(chr17:16699816-20428292)x1	AKAP10, ALDH3A1 +249 more	Copy number loss	See cases	GPathogenic
Select item 155110	GRCh38/hg38 17p12-11.2(chr17:15883037-20658018)x1	ADORA2B, AKAP10 +311 more	Copy number loss	See cases	GPathogenic
Select item 153822	GRCh38/hg38 17p11.2(chr17:16858500-20570955)x3	AKAP10, ALDH3A1 +246 more	Copy number gain	See cases	GPathogenic

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