6524[geneid] - 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 152605	GRCh38/hg38 16p12.2-11.2(chr16:23752047-31943755)x3	LOC130058732, LOC130058733 +504 more	Copy number gain	See cases	GPathogenic
Select item 144329	GRCh38/hg38 16p11.2-11.1(chr16:30691912-36160463)x3	AHSP, ARMC5 +136 more	Copy number gain	See cases	GPathogenic
Select item 2264460	NM_003041.4(SLC5A2):c.4G>A (p.Glu2Lys)	SLC5A2 (E2K)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 886662	NM_003041.4(SLC5A2):c.19G>A (p.Ala7Thr)	SLC5A2 (A7T)	Single nucleotide variant (missense variant +1 more)	Familial renal glucosuria	GUncertain significance
Select item 319053	NM_003041.4(SLC5A2):c.26C>T (p.Ser9Leu)	SLC5A2 (S9L)	Single nucleotide variant (missense variant +1 more)	Familial renal glucosuria	GUncertain significance
Select item 2364775	NM_003041.4(SLC5A2):c.52G>C (p.Ala18Pro)	SLC5A2 (A18P)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 777013	NM_003041.4(SLC5A2):c.60T>C (p.Ile20=)	SLC5A2	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign
Select item 1241803	NM_003041.4(SLC5A2):c.127-323G>C	SLC5A2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3047822	NM_003041.4(SLC5A2):c.127-18C>G	SLC5A2	Single nucleotide variant (intron variant)	SLC5A2-related disorder	GLikely benign
Select item 29880	NM_003041.4(SLC5A2):c.127-16C>A	SLC5A2	Single nucleotide variant (intron variant)	Familial renal glucosuria	GPathogenic
Select item 886663	NM_003041.4(SLC5A2):c.152C>T (p.Thr51Ile)	SLC5A2 (T51I)	Single nucleotide variant (missense variant +1 more)	Familial renal glucosuria	GUncertain significance
Select item 2633293	NM_003041.4(SLC5A2):c.163T>C (p.Tyr55His)	SLC5A2 (Y55H)	Single nucleotide variant (missense variant +1 more)	SLC5A2-related disorder	GUncertain significance
Select item 591648	NM_003041.4(SLC5A2):c.175_184del (p.Gly59fs)	SLC5A2 (G59fs)	Deletion (frameshift variant +1 more)	not provided	GUncertain significance
Select item 3036114	NM_003041.4(SLC5A2):c.178C>T (p.Arg60Cys)	SLC5A2 (R60C)	Single nucleotide variant (missense variant +1 more)	SLC5A2-related disorder	GUncertain significance
Select item 591555	NM_003041.4(SLC5A2):c.187del (p.Val63fs)	SLC5A2 (V63fs)	Deletion (frameshift variant +1 more)	not provided	GUncertain significance
Select item 2579624	NM_003041.4(SLC5A2):c.190T>G (p.Trp64Gly)	SLC5A2 (W64G)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3061899	NM_003041.4(SLC5A2):c.197C>T (p.Pro66Leu)	SLC5A2 (P66L)	Single nucleotide variant (missense variant +1 more)	Familial renal glucosuria	GUncertain significance
Select item 2502154	NM_003041.4(SLC5A2):c.226A>G (p.Ile76Val)	SLC5A2 (I76V)	Single nucleotide variant (missense variant +1 more)	Familial renal glucosuria	GUncertain significance
Select item 829885	NM_003041.4(SLC5A2):c.227T>A (p.Ile76Asn)	SLC5A2 (I76N)	Single nucleotide variant (missense variant +1 more)	Familial renal glucosuria	GUncertain significance
Select item 2487516	NM_003041.4(SLC5A2):c.254C>A (p.Ala85Glu)	SLC5A2 (A85E)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 253135	NM_003041.4(SLC5A2):c.265G>A (p.Ala89Thr)	SLC5A2 (A89T)	Single nucleotide variant (missense variant +1 more)	Familial renal glucosuria	GPathogenic
Select item 804477	NM_003041.4(SLC5A2):c.294_295insTT (p.Glu99fs)	SLC5A2 (E99fs)	Insertion (frameshift variant +1 more)	Familial renal glucosuria	GLikely pathogenic
Select item 29882	NM_003041.4(SLC5A2):c.294C>A (p.Phe98Leu)	SLC5A2 (F98L)	Single nucleotide variant (missense variant +1 more)	Familial renal glucosuria	GPathogenic
Select item 1326666	NM_003041.4(SLC5A2):c.295G>C (p.Glu99Gln)	SLC5A2 (E99Q)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3067930	NM_003041.4(SLC5A2):c.305C>T (p.Ala102Val)	SLC5A2 (A102V)	Single nucleotide variant (missense variant +1 more)	Familial renal glucosuria	GUncertain significance
Select item 3051410	NM_003041.4(SLC5A2):c.306G>A (p.Ala102=)	SLC5A2	Single nucleotide variant (synonymous variant +1 more)	SLC5A2-related disorder	GLikely benign
Select item 2584610	NM_003041.4(SLC5A2):c.350A>G (p.Tyr117Cys)	SLC5A2 (Y117C)	Single nucleotide variant (missense variant +1 more)	Familial renal glucosuria	GUncertain significance
Select item 992379	NM_003041.4(SLC5A2):c.371C>T (p.Thr124Met)	SLC5A2 (T124M)	Single nucleotide variant (missense variant +1 more)	Familial renal glucosuria	GUncertain significance
Select item 319054	NM_003041.4(SLC5A2):c.389G>A (p.Arg130His)	SLC5A2 (R130H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2514529	NM_003041.4(SLC5A2):c.394C>A (p.Arg132Ser)	SLC5A2 (R132S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 161605	NM_003041.4(SLC5A2):c.395G>A (p.Arg132His)	SLC5A2 (R132H)	Single nucleotide variant (missense variant +1 more)	SLC5A2-related disorder +1 more	GUncertain significance
Select item 2619308	NM_003041.4(SLC5A2):c.403G>A (p.Gly135Ser)	SLC5A2 (G135S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2393140	NM_003041.4(SLC5A2):c.406C>T (p.Arg136Cys)	SLC5A2 (R136C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2272170	NM_003041.4(SLC5A2):c.407G>A (p.Arg136His)	SLC5A2 (R136H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 522721	NM_003041.4(SLC5A2):c.416G>A (p.Arg139His)	SLC5A2 (R139H)	Single nucleotide variant (missense variant +1 more)	Familial renal glucosuria	GUncertain significance
Select item 3165235	NM_003041.4(SLC5A2):c.430G>A (p.Val144Met)	SLC5A2 (V144M)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 992418	NM_003041.4(SLC5A2):c.451A>C (p.Ile151Leu)	SLC5A2 (I151L)	Single nucleotide variant (missense variant +1 more)	Familial renal glucosuria	GUncertain significance
Select item 319055	NM_003041.4(SLC5A2):c.469-3A>T	SLC5A2	Single nucleotide variant (intron variant)	Familial renal glucosuria	GUncertain significance
Select item 2577426	NM_003041.4(SLC5A2):c.469-2A>T	SLC5A2	Single nucleotide variant (splice acceptor variant)	Familial renal glucosuria	GPathogenic
Select item 2485677	NM_003041.4(SLC5A2):c.477G>A (p.Met159Ile)	SLC5A2 (M159I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3236083	NM_003041.4(SLC5A2):c.484G>A (p.Gly162Arg)	SLC5A2 (G162R)	Single nucleotide variant (missense variant +1 more)	Familial renal glucosuria	GLikely pathogenic
Select item 12906	NM_003041.4(SLC5A2):c.500del (p.Gln167fs)	SLC5A2 (Q167fs)	Deletion (frameshift variant +1 more)	SLC5A2-related disorder +1 more	GPathogenic
Select item 2662939	NM_003041.4(SLC5A2):c.503A>G (p.Gln168Arg)	SLC5A2 (Q168R)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely pathogenic
Select item 2635987	NM_003041.4(SLC5A2):c.506del (p.Ala169fs)	SLC5A2 (A169fs)	Deletion (frameshift variant +1 more)	SLC5A2-related disorder	GLikely pathogenic
Select item 808037	NM_003041.4(SLC5A2):c.531C>T (p.Ser177=)	SLC5A2	Single nucleotide variant (synonymous variant +1 more)	not provided	GUncertain significance
Select item 319056	NM_003041.4(SLC5A2):c.568G>A (p.Val190Met)	SLC5A2 (V190M)	Single nucleotide variant (missense variant +1 more)	Familial renal glucosuria	GUncertain significance
Select item 1232557	NM_003041.4(SLC5A2):c.574+212A>T	SLC5A2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2326549	NM_003041.4(SLC5A2):c.599C>T (p.Thr200Met)	SLC5A2 (T200M)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2305059	NM_003041.4(SLC5A2):c.602A>G (p.Asp201Gly)	SLC5A2 (D201G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3165236	NM_003041.4(SLC5A2):c.619G>T (p.Val207Phe)	SLC5A2 (V207F)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2502163	NM_003041.4(SLC5A2):c.655+5G>A	SLC5A2	Single nucleotide variant (intron variant)	Familial renal glucosuria	GUncertain significance
Select item 638410	NM_003041.4(SLC5A2):c.655+6G>C	SLC5A2	Single nucleotide variant (intron variant)	Familial renal glucosuria	GUncertain significance
Select item 710744	NM_003041.4(SLC5A2):c.657C>T (p.Ala219=)	SLC5A2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1803821	NM_003041.4(SLC5A2):c.673G>A (p.Gly225Arg)	SLC5A2 (G225R)	Single nucleotide variant (missense variant +1 more)	Familial renal glucosuria +1 more	GUncertain significance
Select item 1705713	NM_003041.4(SLC5A2):c.683G>T (p.Gly228Val)	SLC5A2 (G228V)	Single nucleotide variant (missense variant +1 more)	Familial renal glucosuria	GUncertain significance
Select item 3165237	NM_003041.4(SLC5A2):c.697T>C (p.Tyr233His)	SLC5A2 (Y233H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 319057	NM_003041.4(SLC5A2):c.704G>A (p.Gly235Glu)	SLC5A2 (G235E)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 2565724	NM_003041.4(SLC5A2):c.758G>A (p.Ser253Asn)	SLC5A2 (S253N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2395417	NM_003041.4(SLC5A2):c.767A>G (p.Tyr256Cys)	SLC5A2 (Y256C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2582381	NM_003041.4(SLC5A2):c.776G>A (p.Arg259Gln)	SLC5A2 (R259Q)	Single nucleotide variant (missense variant +1 more)	Familial renal glucosuria	GUncertain significance
Select item 3030697	NM_003041.4(SLC5A2):c.789C>T (p.Tyr263=)	SLC5A2	Single nucleotide variant (synonymous variant +1 more)	SLC5A2-related disorder	GLikely benign
Select item 3051298	NM_003041.4(SLC5A2):c.843C>A (p.Leu281=)	SLC5A2	Single nucleotide variant (synonymous variant +1 more)	SLC5A2-related disorder	GLikely benign
Select item 2633899	NM_003041.4(SLC5A2):c.872G>A (p.Trp291Ter)	LOC130058907, SLC5A2 (W291*)	Single nucleotide variant (nonsense +1 more)	SLC5A2-related disorder	GLikely pathogenic
Select item 632249	NM_003041.4(SLC5A2):c.885+5G>A	LOC130058907, SLC5A2	Single nucleotide variant (intron variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 3032203	NM_003041.4(SLC5A2):c.885+7G>T	LOC130058907, SLC5A2	Single nucleotide variant (intron variant)	SLC5A2-related disorder	GLikely benign
Select item 887915	NM_003041.4(SLC5A2):c.886G>C (p.Val296Leu)	SLC5A2 (V296L)	Single nucleotide variant (missense variant +1 more)	Familial renal glucosuria	GUncertain significance
Select item 591522	NM_003041.4(SLC5A2):c.890T>C (p.Ile297Thr)	SLC5A2 (I297T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3236174	NM_003041.4(SLC5A2):c.910G>A (p.Gly304Arg)	SLC5A2 (G304R)	Single nucleotide variant (missense variant +1 more)	Familial renal glucosuria	GUncertain significance
Select item 3061886	NM_003041.4(SLC5A2):c.959T>C (p.Leu320Pro)	SLC5A2 (L320P)	Single nucleotide variant (missense variant +1 more)	Familial renal glucosuria	GUncertain significance
Select item 1334520	NM_003041.4(SLC5A2):c.968C>A (p.Thr323Lys)	SLC5A2 (T323K)	Single nucleotide variant (missense variant +1 more)	Familial renal glucosuria +1 more	GUncertain significance
Select item 3165238	NM_003041.4(SLC5A2):c.982A>G (p.Met328Val)	SLC5A2 (M328V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 992419	NM_003041.4(SLC5A2):c.1007G>A (p.Arg336His)	SLC5A2 (R336H)	Single nucleotide variant (missense variant +1 more)	Familial renal glucosuria	GUncertain significance
Select item 887916	NM_003041.4(SLC5A2):c.1008C>T (p.Arg336=)	SLC5A2	Single nucleotide variant (synonymous variant +1 more)	Familial renal glucosuria	GUncertain significance
Select item 887917	NM_003041.4(SLC5A2):c.1021+14C>T	SLC5A2	Single nucleotide variant (intron variant)	Familial renal glucosuria	GUncertain significance
Select item 3058571	NM_003041.4(SLC5A2):c.1022-4G>A	SLC5A2	Single nucleotide variant (intron variant)	SLC5A2-related disorder	GLikely benign
Select item 1325096	NM_003041.4(SLC5A2):c.1031C>T (p.Ala344Val)	SLC5A2 (A344V)	Single nucleotide variant (missense variant +1 more)	Familial renal glucosuria	GConflicting classifications of pathogenicity
Select item 2502266	NM_003041.4(SLC5A2):c.1036G>A (p.Val346Met)	SLC5A2 (V346M)	Single nucleotide variant (missense variant +1 more)	Familial renal glucosuria	GUncertain significance
Select item 2603288	NM_003041.4(SLC5A2):c.1042C>A (p.Pro348Thr)	SLC5A2 (P348T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 638419	NM_003041.4(SLC5A2):c.1075G>A (p.Val359Met)	SLC5A2 (V359M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1285213	NM_003041.4(SLC5A2):c.1102C>T (p.Arg368Trp)	SLC5A2 (R368W)	Single nucleotide variant (missense variant +1 more)	Familial renal glucosuria	GLikely pathogenic
Select item 887918	NM_003041.4(SLC5A2):c.1129+6G>A	SLC5A2	Single nucleotide variant (intron variant)	Familial renal glucosuria	GUncertain significance
Select item 3052186	NM_003041.4(SLC5A2):c.1130-4G>A	SLC5A2	Single nucleotide variant (intron variant)	SLC5A2-related disorder	GLikely benign
Select item 319058	NM_003041.4(SLC5A2):c.1130G>C (p.Gly377Ala)	SLC5A2 (G377A)	Single nucleotide variant (missense variant)	Familial renal glucosuria	GUncertain significance
Select item 3165226	NM_003041.4(SLC5A2):c.1133T>C (p.Leu378Pro)	SLC5A2 (L378P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 319059	NM_003041.4(SLC5A2):c.1137C>T (p.Arg379=)	SLC5A2	Single nucleotide variant (synonymous variant)	Familial renal glucosuria	GUncertain significance
Select item 420178	NM_003041.4(SLC5A2):c.1152_1163del (p.Val385_Ala388del)	SLC5A2	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 319060	NM_003041.4(SLC5A2):c.1145T>C (p.Met382Thr)	SLC5A2 (M382T)	Single nucleotide variant (missense variant)	Familial renal glucosuria	GUncertain significance
Select item 2433567	NM_003041.4(SLC5A2):c.1153_1162del (p.Val385fs)	SLC5A2 (V385fs)	Deletion (frameshift variant)	Familial renal glucosuria	GLikely pathogenic
Select item 3165227	NM_003041.4(SLC5A2):c.1153G>C (p.Val385Leu)	SLC5A2 (V385L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 887919	NM_003041.4(SLC5A2):c.1154T>C (p.Val385Ala)	SLC5A2 (V385A)	Single nucleotide variant (missense variant)	Familial renal glucosuria	GUncertain significance
Select item 3236792	NM_003041.4(SLC5A2):c.1163C>T (p.Ala388Val)	SLC5A2 (A388V)	Single nucleotide variant (missense variant)	Familial renal glucosuria	GUncertain significance
Select item 3165228	NM_003041.4(SLC5A2):c.1172T>C (p.Met391Thr)	SLC5A2 (M391T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3165229	NM_003041.4(SLC5A2):c.1173G>A (p.Met391Ile)	SLC5A2 (M391I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 992414	NM_003041.4(SLC5A2):c.1261G>A (p.Glu421Lys)	SLC5A2 (E421K)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 884765	NM_003041.4(SLC5A2):c.1265T>C (p.Leu422Pro)	SLC5A2 (L422P)	Single nucleotide variant (missense variant)	Familial renal glucosuria	GUncertain significance
Select item 319061	NM_003041.4(SLC5A2):c.1269G>T (p.Leu423=)	SLC5A2	Single nucleotide variant (synonymous variant)	Familial renal glucosuria	GUncertain significance
Select item 976092	NM_003041.4(SLC5A2):c.1274T>A (p.Val425Glu)	SLC5A2 (V425E)	Single nucleotide variant (missense variant)	Familial renal glucosuria	GUncertain significance
Select item 884766	NM_003041.4(SLC5A2):c.1275G>A (p.Val425=)	SLC5A2	Single nucleotide variant (synonymous variant)	Familial renal glucosuria	GUncertain significance
Select item 1297591	NM_003041.4(SLC5A2):c.1280+1G>A	SLC5A2	Single nucleotide variant (splice donor variant)	Familial renal glucosuria	GLikely pathogenic
Select item 2297229	NM_003041.4(SLC5A2):c.1288G>A (p.Val430Met)	SLC5A2 (V430M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

<< First< Prev

Page of 2