Related gene-specific medical variations for Gene (Select 125206) - ClinVar

Links from Gene

Items: 87

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3320023	NM_001042450.4(SLC5A10):c.737G>A (p.Arg246His)	FAM83G, SLC5A10 (R163H +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3277537	NM_001039999.3(FAM83G):c.1655C>T (p.Ala552Val)	FAM83G, SLC5A10 (A552V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3277536	NM_001039999.3(FAM83G):c.2026G>A (p.Glu676Lys)	FAM83G, SLC5A10 (E676K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3277535	NM_001039999.3(FAM83G):c.1522C>T (p.Arg508Trp)	FAM83G, SLC5A10 (R508W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3277534	NM_001039999.3(FAM83G):c.1435G>A (p.Glu479Lys)	FAM83G, SLC5A10 (E479K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3277533	NM_001039999.3(FAM83G):c.670A>T (p.Met224Leu)	FAM83G, SLC5A10 (M224L)	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 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 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 3092634	NM_001039999.3(FAM83G):c.973C>A (p.Pro325Thr)	FAM83G, SLC5A10 (P325T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3092633	NM_001039999.3(FAM83G):c.737C>T (p.Ser246Leu)	FAM83G, SLC5A10 (S246L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3092632	NM_001039999.3(FAM83G):c.734G>A (p.Arg245Gln)	FAM83G, SLC5A10 (R245Q)	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 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 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 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 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 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 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 3092621	NM_001039999.3(FAM83G):c.1589C>T (p.Pro530Leu)	FAM83G, SLC5A10 (P530L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3092620	NM_001039999.3(FAM83G):c.1516A>G (p.Lys506Glu)	FAM83G, SLC5A10 (K506E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3092619	NM_001039999.3(FAM83G):c.1510G>A (p.Val504Met)	FAM83G, SLC5A10 (V504M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3092618	NM_001039999.3(FAM83G):c.1442G>A (p.Ser481Asn)	FAM83G, SLC5A10 (S481N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3092617	NM_001039999.3(FAM83G):c.1339A>G (p.Ile447Val)	FAM83G, SLC5A10 (I447V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3092616	NM_001039999.3(FAM83G):c.1033G>A (p.Val345Ile)	FAM83G, SLC5A10 (V345I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3051338	NM_006613.4(GRAP):c.546C>T (p.Gly182=)	GRAP, SLC5A10 (A126V)	Single nucleotide variant (missense variant +2 more)	GRAP-related disorder	GLikely benign
Select item 3043072	NM_006613.4(GRAP):c.603C>T (p.Cys201=)	GRAP, SLC5A10 (A145V)	Single nucleotide variant (missense variant +2 more)	GRAP-related disorder	GLikely benign
Select item 3036303	NM_006613.4(GRAP):c.595C>A (p.Arg199=)	GRAP, SLC5A10	Single nucleotide variant (synonymous variant +1 more)	GRAP-related disorder	GLikely benign
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 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 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 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 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 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 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 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 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 2563778	NM_001039999.3(FAM83G):c.1666C>T (p.Arg556Trp)	FAM83G, SLC5A10 (R556W)	Single nucleotide variant (intron 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 2546481	NM_001039999.3(FAM83G):c.233C>T (p.Ser78Phe)	FAM83G, SLC5A10 (S78F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2538761	NM_001039999.3(FAM83G):c.1301C>T (p.Pro434Leu)	FAM83G, SLC5A10 (P434L)	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 2519138	NM_006613.4(GRAP):c.590G>A (p.Arg197Gln)	GRAP, SLC5A10 (R197Q +1 more)	Single nucleotide variant (missense variant +1 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 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 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 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 2469104	NM_001039999.3(FAM83G):c.1072G>A (p.Asp358Asn)	FAM83G, SLC5A10 (D358N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2467595	NM_001039999.3(FAM83G):c.844C>T (p.Arg282Trp)	FAM83G, SLC5A10 (R282W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2455498	NM_001039999.3(FAM83G):c.764C>T (p.Ala255Val)	FAM83G, SLC5A10 (A255V)	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 2409114	NM_001039999.3(FAM83G):c.328G>A (p.Glu110Lys)	FAM83G, SLC5A10 (E110K)	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 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 2396887	NM_001039999.3(FAM83G):c.845G>A (p.Arg282Gln)	FAM83G, SLC5A10 (R282Q)	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 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 2382048	NM_001039999.3(FAM83G):c.263A>C (p.Gln88Pro)	FAM83G, SLC5A10 (Q88P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
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 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 2363938	NM_001039999.3(FAM83G):c.31G>A (p.Asp11Asn)	FAM83G, SLC5A10 (D11N)	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 2353435	NM_001042450.4(SLC5A10):c.874C>T (p.Arg292Trp)	SLC5A10, FAM83G (R265W +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2351048	NM_001039999.3(FAM83G):c.1412G>A (p.Arg471His)	FAM83G, SLC5A10 (R471H)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2349208	NM_001039999.3(FAM83G):c.1133G>A (p.Gly378Asp)	FAM83G, SLC5A10 (G378D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2334458	NM_001039999.3(FAM83G):c.91C>A (p.Gln31Lys)	FAM83G, SLC5A10 (Q31K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
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 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 2322311	NM_001039999.3(FAM83G):c.1421C>T (p.Pro474Leu)	FAM83G, SLC5A10 (P474L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2305256	NM_001039999.3(FAM83G):c.551C>T (p.Thr184Ile)	FAM83G, SLC5A10 (T184I)	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 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 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 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 2266447	NM_001039999.3(FAM83G):c.1534G>A (p.Val512Met)	SLC5A10, FAM83G (V512M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2264546	NM_001039999.3(FAM83G):c.546G>C (p.Met182Ile)	FAM83G, SLC5A10 (M182I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2241931	NM_001039999.3(FAM83G):c.1348C>T (p.Arg450Cys)	FAM83G, SLC5A10 (R450C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2240088	NM_001039999.3(FAM83G):c.436C>T (p.Arg146Trp)	FAM83G, SLC5A10 (R146W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2226091	NM_006613.4(GRAP):c.479C>T (p.Ala160Val)	GRAP, SLC5A10 (A160V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2220557	NM_006613.4(GRAP):c.533G>C (p.Ser178Thr)	GRAP, SLC5A10 (A122P +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2214637	NM_001039999.3(FAM83G):c.556G>A (p.Val186Met)	FAM83G, SLC5A10 (V186M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2212569	NM_001039999.3(FAM83G):c.1010C>T (p.Ala337Val)	FAM83G, SLC5A10 (A337V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2210814	NM_001039999.3(FAM83G):c.254G>T (p.Gly85Val)	FAM83G, SLC5A10 (G85V)	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 2205868	NM_001039999.3(FAM83G):c.544A>G (p.Met182Val)	FAM83G, SLC5A10 (M182V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 787727	NM_001039999.3(FAM83G):c.1374G>T (p.Gln458His)	FAM83G, SLC5A10 (Q458H)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign

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Links from Gene

Items: 87