FAM83G[gene] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 1 to 100 of 195

<< First< Prev

Page of 2

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58104	GRCh38/hg38 17p12-11.2(chr17:15234685-20620700)x3	ADORA2B, AKAP10 +333 more	Copy number gain	See cases	GPathogenic
Select item 58107	GRCh38/hg38 17p12-11.2(chr17:15259164-20925299)x3	ADORA2B, AKAP10 +337 more	Copy number gain	See cases	GPathogenic
Select item 153990	GRCh38/hg38 17p12-11.2(chr17:15552362-19014200)x3	ADORA2B, ALKBH5 +240 more	Copy number gain	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 155583	GRCh38/hg38 17p12-11.2(chr17:15850859-20649235)x1	FAM106C, FAM83G +311 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 150691	GRCh38/hg38 17p12-11.2(chr17:15883037-20620700)x1	ADORA2B, AKAP10 +311 more	Copy number loss	See cases	GPathogenic
Select item 57018	GRCh38/hg38 17p12-11.2(chr17:15898032-20620700)x1	ADORA2B, AKAP10 +311 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 150743	GRCh38/hg38 17p11.2(chr17:16656162-20390697)x1	AKAP10, ALDH3A1 +248 more	Copy number loss	See cases	GPathogenic
Select item 58110	GRCh38/hg38 17p11.2(chr17:16656168-20390725)x3	AKAP10, ALDH3A1 +248 more	Copy number gain	See cases	GPathogenic
Select item 58113	GRCh38/hg38 17p11.2(chr17:16692462-20390725)x3	AKAP10, ALDH3A1 +248 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 151506	GRCh38/hg38 17p11.2(chr17:16699694-20530646)x3	MYO15A, NT5M +252 more	Copy number gain	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 152261	GRCh38/hg38 17p11.2(chr17:16699816-20492214)x3	AKAP10, ALDH3A1 +251 more	Copy number gain	See cases	GPathogenic
Select item 148912	GRCh38/hg38 17p11.2(chr17:16699816-20390725)x1	AKAP10, ALDH3A1 +248 more	Copy number loss	See cases	GPathogenic
Select item 58115	GRCh38/hg38 17p11.2(chr17:16713514-20582527)x3	AKAP10, ALDH3A1 +253 more	Copy number gain	See cases	GPathogenic
Select item 58126	GRCh38/hg38 17p11.2(chr17:16713515-20340442)x3	LOC130060419, LOC130060420 +248 more	Copy number gain	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 146755	GRCh38/hg38 17p11.2(chr17:16734558-20390697)x1	AKAP10, ALDH3A1 +248 more	Copy number loss	See cases	GPathogenic
Select item 146754	GRCh38/hg38 17p11.2(chr17:16734558-20390697)x3	LOC130060406, LOC130060407 +248 more	Copy number gain	See cases	GPathogenic
Select item 147821	GRCh38/hg38 17p11.2(chr17:16734588-20316151)x1	AKAP10, ALDH3A1 +248 more	Copy number loss	See cases	GPathogenic
Select item 147756	GRCh38/hg38 17p11.2(chr17:16734588-20390725)x1	AKAP10, ALDH3A1 +248 more	Copy number loss	See cases	GPathogenic
Select item 58127	GRCh38/hg38 17p11.2(chr17:16760817-20429770)x3	AKAP10, ALDH3A1 +248 more	Copy number gain	See cases	GPathogenic
Select item 60437	GRCh38/hg38 17p11.2(chr17:16760818-20390725)x1	AKAP10, ALDH3A1 +247 more	Copy number loss	See cases	GPathogenic
Select item 58128	GRCh38/hg38 17p11.2(chr17:16760818-20504849)x3	AKAP10, ALDH3A1 +250 more	Copy number gain	See cases	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 60455	GRCh38/hg38 17p11.2(chr17:16836827-20465067)x1	AKAP10, ALDH3A1 +246 more	Copy number loss	See cases	GPathogenic
Select item 58132	GRCh38/hg38 17p11.2(chr17:16836827-20504849)x3	AKAP10, ALDH3A1 +246 more	Copy number gain	See cases	GPathogenic
Select item 58131	GRCh38/hg38 17p11.2(chr17:16836827-20340442)x3	AKAP10, ALDH3A1 +243 more	Copy number gain	See cases	GPathogenic
Select item 153671	GRCh38/hg38 17p11.2(chr17:16838097-20436415)x1	AKAP10, ALDH3A1 +244 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 150319	GRCh38/hg38 17p11.2(chr17:16854250-20560048)x3	AKAP10, ALDH3A1 +246 more	Copy number gain	See cases	GPathogenic
Select item 149203	GRCh38/hg38 17p11.2(chr17:16854250-20492214)x3	AKAP10, ALDH3A1 +245 more	Copy number gain	See cases	GPathogenic
Select item 145065	GRCh38/hg38 17p11.2(chr17:16854250-20492169)x3	LOC130060411, LOC130060412 +245 more	Copy number gain	See cases	GPathogenic
Select item 60457	GRCh38/hg38 17p11.2(chr17:16858444-20465067)x1	AKAP10, ALDH3A1 +245 more	Copy number loss	See cases	GPathogenic
Select item 60456	GRCh38/hg38 17p11.2(chr17:16858444-20340442)x1	AKAP10, ALDH3A1 +242 more	Copy number loss	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 153822	GRCh38/hg38 17p11.2(chr17:16858500-20570955)x3	AKAP10, ALDH3A1 +246 more	Copy number gain	See cases	GPathogenic
Select item 144213	GRCh38/hg38 17p11.2(chr17:16879232-20316151)x3	SLC5A10, SMCR2 +242 more	Copy number gain	See cases	GPathogenic
Select item 57224	GRCh38/hg38 17p11.2(chr17:16879232-18970941)x3	ALKBH5, ATPAF2 +161 more	Copy number gain	See cases	GPathogenic
Select item 57035	GRCh38/hg38 17p11.2(chr17:16879232-20390725)x1	AKAP10, ALDH3A1 +242 more	Copy number loss	See cases	GPathogenic
Select item 57034	GRCh38/hg38 17p11.2(chr17:16879232-20390725)x3	AKAP10, ALDH3A1 +242 more	Copy number gain	See cases	GPathogenic
Select item 146753	GRCh38/hg38 17p11.2(chr17:16879233-20390697)x1	AKAP10, ALDH3A1 +242 more	Copy number loss	See cases	GPathogenic
Select item 58134	GRCh38/hg38 17p11.2(chr17:16919369-20289856)x3	AKAP10, ALDH3A1 +241 more	Copy number gain	See cases	GPathogenic
Select item 150379	GRCh38/hg38 17p11.2(chr17:16989087-20370816)x1	AKAP10, ALDH3A1 +226 more	Copy number loss	See cases	GPathogenic
Select item 152568	GRCh38/hg38 17p11.2(chr17:17018951-20148630)x1	AKAP10, ALDH3A1 +220 more	Copy number loss	See cases	GPathogenic
Select item 153282	GRCh38/hg38 17p11.2(chr17:17067833-19019419)x1	LOC130060377, LOC130060378 +143 more	Copy number loss	See cases	GPathogenic
Select item 146614	GRCh38/hg38 17p11.2(chr17:17331511-20022528)x1	AKAP10, ALDH3A1 +187 more	Copy number loss	See cases	GPathogenic
Select item 60134	GRCh38/hg38 17p11.2(chr17:18828089-20467764)x3	AKAP10, ALDH3A1 +91 more	Copy number gain	See cases	GUncertain significance
Select item 31103	NC_000017.11:g.(?_18856298)_(20402192_?)del	AKAP10, ALDH3A1 +87 more	Deletion	Meckel syndrome, type 9	GPathogenic
Select item 148929	GRCh38/hg38 17p11.2(chr17:18859289-20316151)x1	AKAP10, ALDH3A1 +87 more	Copy number loss	See cases	GLikely pathogenic
Select item 145913	GRCh38/hg38 17p11.2(chr17:18872617-19009860)x3	FAM83G, LOC125177436 +8 more	Copy number gain	See cases	GLikely benign
Select item 144242	GRCh38/hg38 17p11.2(chr17:18872617-20316151)x1	AKAP10, ALDH3A1 +87 more	Copy number loss	See cases	GPathogenic
Select item 2491576	NM_001042450.4(SLC5A10):c.454C>A (p.Leu152Met)	FAM83G, SLC5A10 (L152M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3165196	NM_001042450.4(SLC5A10):c.575T>C (p.Val192Ala)	FAM83G, SLC5A10 (V192A)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2604338	NM_001042450.4(SLC5A10):c.611T>C (p.Val204Ala)	FAM83G, SLC5A10 (V204A)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2517835	NM_001042450.4(SLC5A10):c.620C>T (p.Ala207Val)	FAM83G, SLC5A10 (A207V)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2405691	NM_001042450.4(SLC5A10):c.750G>A (p.Met250Ile)	FAM83G, SLC5A10 (M167I +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3165197	NM_001042450.4(SLC5A10):c.753C>G (p.His251Gln)	FAM83G, SLC5A10 (H251Q +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3165198	NM_001042450.4(SLC5A10):c.754A>G (p.Met252Val)	FAM83G, SLC5A10 (M252V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2366291	NM_001042450.4(SLC5A10):c.770A>G (p.His257Arg)	FAM83G, SLC5A10 (H174R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2567252	NM_001042450.4(SLC5A10):c.832T>C (p.Trp278Arg)	FAM83G, SLC5A10 (W195R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2406187	NM_001039999.3(FAM83G):c.2447C>T (p.Ala816Val)	FAM83G, SLC5A10 (A816V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3092631	NM_001039999.3(FAM83G):c.2435G>A (p.Arg812Gln)	FAM83G, SLC5A10 (R812Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2591792	NM_001039999.3(FAM83G):c.2425G>A (p.Asp809Asn)	FAM83G, SLC5A10 (D809N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3092630	NM_001039999.3(FAM83G):c.2404G>A (p.Gly802Ser)	FAM83G, SLC5A10 (G802S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2390121	NM_001039999.3(FAM83G):c.2350G>A (p.Gly784Arg)	FAM83G, SLC5A10 (G784R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3092629	NM_001039999.3(FAM83G):c.2332G>C (p.Glu778Gln)	FAM83G, SLC5A10 (E778Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2410285	NM_001039999.3(FAM83G):c.2329G>A (p.Glu777Lys)	FAM83G, SLC5A10 (E777K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3092628	NM_001039999.3(FAM83G):c.2314G>A (p.Asp772Asn)	FAM83G, SLC5A10 (D772N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3092627	NM_001039999.3(FAM83G):c.2290G>T (p.Ala764Ser)	FAM83G, SLC5A10 (A764S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2269875	NM_001039999.3(FAM83G):c.2275G>A (p.Gly759Ser)	FAM83G, SLC5A10 (G759S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2647561	NM_001039999.3(FAM83G):c.2268G>A (p.Pro756=)	FAM83G, SLC5A10	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2604177	NM_001039999.3(FAM83G):c.2221C>T (p.Pro741Ser)	FAM83G, SLC5A10 (P741S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2519326	NM_001039999.3(FAM83G):c.2212A>G (p.Met738Val)	FAM83G, SLC5A10 (M738V)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2371388	NM_001039999.3(FAM83G):c.2200G>A (p.Ala734Thr)	FAM83G, SLC5A10 (A734T)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2328768	NM_001039999.3(FAM83G):c.2162G>T (p.Arg721Leu)	FAM83G, SLC5A10 (R721L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2291878	NM_001039999.3(FAM83G):c.2143C>T (p.Pro715Ser)	FAM83G, SLC5A10 (P715S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3092626	NM_001039999.3(FAM83G):c.2138G>A (p.Gly713Asp)	FAM83G, SLC5A10 (G713D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2477509	NM_001039999.3(FAM83G):c.2105G>A (p.Arg702Lys)	FAM83G, SLC5A10 (R702K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2491935	NM_001039999.3(FAM83G):c.2104A>G (p.Arg702Gly)	FAM83G, SLC5A10 (R702G)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2353435	NM_001042450.4(SLC5A10):c.874C>T (p.Arg292Trp)	FAM83G, SLC5A10 (R265W +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2591398	NM_001042450.4(SLC5A10):c.967C>T (p.Arg323Cys)	FAM83G, SLC5A10 (R323C +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2281386	NM_001039999.3(FAM83G):c.2060G>A (p.Arg687His)	FAM83G, SLC5A10 (R687H)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2383001	NM_001039999.3(FAM83G):c.2043G>T (p.Lys681Asn)	FAM83G, SLC5A10 (K681N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2328767	NM_001039999.3(FAM83G):c.1973C>A (p.Thr658Asn)	FAM83G, SLC5A10 (T658N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2592017	NM_001039999.3(FAM83G):c.1939C>T (p.Arg647Trp)	FAM83G, SLC5A10 (R647W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3092624	NM_001039999.3(FAM83G):c.1930C>T (p.Pro644Ser)	FAM83G, SLC5A10 (P644S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2548553	NM_001039999.3(FAM83G):c.1895G>A (p.Arg632His)	FAM83G, SLC5A10 (R632H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2271422	NM_001039999.3(FAM83G):c.1885C>A (p.Leu629Ile)	FAM83G, SLC5A10 (L629I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3092623	NM_001039999.3(FAM83G):c.1750G>A (p.Asp584Asn)	FAM83G, SLC5A10 (D584N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2207365	NM_001039999.3(FAM83G):c.1721A>G (p.Asn574Ser)	FAM83G, SLC5A10 (N574S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2622728	NM_001039999.3(FAM83G):c.1708G>T (p.Val570Leu)	FAM83G, SLC5A10 (V570L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2591138	NM_001039999.3(FAM83G):c.1708G>A (p.Val570Met)	FAM83G, SLC5A10 (V570M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2360290	NM_001039999.3(FAM83G):c.1696G>A (p.Glu566Lys)	FAM83G, SLC5A10 (E566K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2563778	NM_001039999.3(FAM83G):c.1666C>T (p.Arg556Trp)	FAM83G, SLC5A10 (R556W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3092621	NM_001039999.3(FAM83G):c.1589C>T (p.Pro530Leu)	FAM83G, SLC5A10 (P530L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance

<< First< Prev

Page of 2