"Counsyl"[submitter] AND "SLC37A4"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 557397	NM_001164277.2(SLC37A4):c.*12G>A	SLC37A4	Single nucleotide variant (3 prime UTR variant)	Glucose-6-phosphate transport defect	GUncertain significance
Select item 392933	NM_001164277.2(SLC37A4):c.*11G>A	SLC37A4	Single nucleotide variant (3 prime UTR variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 551128	NM_001164277.2(SLC37A4):c.*7T>G	SLC37A4	Single nucleotide variant (3 prime UTR variant)	Glucose-6-phosphate transport defect	GUncertain significance
Select item 553127	NM_001164277.2(SLC37A4):c.*1AG[2]	SLC37A4	Microsatellite (3 prime UTR variant)	Glucose-6-phosphate transport defect	GUncertain significance
Select item 557051	NM_001164277.2(SLC37A4):c.*5A>T	SLC37A4	Single nucleotide variant (3 prime UTR variant)	Glucose-6-phosphate transport defect	GUncertain significance
Select item 554801	NM_001164277.2(SLC37A4):c.*5A>G	SLC37A4	Single nucleotide variant (3 prime UTR variant)	Glucose-6-phosphate transport defect	GUncertain significance
Select item 553281	NM_001164277.2(SLC37A4):c.*1A>G	SLC37A4	Single nucleotide variant (3 prime UTR variant)	Glucose-6-phosphate transport defect	GUncertain significance
Select item 550762	NM_001164277.2(SLC37A4):c.1283C>T (p.Ala428Val)	SLC37A4 (A428V +2 more)	Single nucleotide variant (missense variant)	Glucose-6-phosphate transport defect	GUncertain significance
Select item 557760	NM_001164277.2(SLC37A4):c.1281G>A (p.Lys427=)	SLC37A4	Single nucleotide variant (synonymous variant)	Glucose-6-phosphate transport defect	GLikely benign
Select item 556675	NM_001164277.2(SLC37A4):c.1270G>T (p.Val424Leu)	SLC37A4 (V424L +2 more)	Single nucleotide variant (missense variant)	Glucose-6-phosphate transport defect	GUncertain significance
Select item 554428	NM_001164277.2(SLC37A4):c.1268G>T (p.Arg423Leu)	SLC37A4 (R423L +2 more)	Single nucleotide variant (missense variant)	Glucose-6-phosphate transport defect	GUncertain significance
Select item 551733	NM_001164277.2(SLC37A4):c.1264G>A (p.Gly422Ser)	SLC37A4 (G422S +2 more)	Single nucleotide variant (missense variant)	Glucose-6-phosphate transport defect	GUncertain significance
Select item 550481	NM_001164277.2(SLC37A4):c.1241T>C (p.Leu414Pro)	SLC37A4 (L414P +2 more)	Single nucleotide variant (missense variant)	Glucose-6-phosphate transport defect	GUncertain significance
Select item 459621	NM_001164277.2(SLC37A4):c.1230C>T (p.Ala410=)	SLC37A4	Single nucleotide variant (synonymous variant)	Glucose-6-phosphate transport defect	GLikely benign
Select item 302704	NM_001164277.2(SLC37A4):c.1225G>A (p.Ala409Thr)	SLC37A4 (A409T +2 more)	Single nucleotide variant (missense variant)	Glycogen storage disease, type I +1 more	GConflicting classifications of pathogenicity
Select item 553213	NM_001164277.2(SLC37A4):c.1211G>C (p.Cys404Ser)	SLC37A4 (C404S +2 more)	Single nucleotide variant (missense variant)	Glucose-6-phosphate transport defect	GUncertain significance
Select item 552223	NM_001164277.2(SLC37A4):c.1208T>C (p.Ile403Thr)	SLC37A4 (I403T +2 more)	Single nucleotide variant (missense variant)	Glucose-6-phosphate transport defect	GUncertain significance
Select item 554518	NM_001164277.2(SLC37A4):c.1201G>C (p.Glu401Gln)	SLC37A4 (E401Q +2 more)	Single nucleotide variant (missense variant)	Glucose-6-phosphate transport defect	GUncertain significance
Select item 554808	NM_001164277.2(SLC37A4):c.1195G>A (p.Val399Met)	SLC37A4 (V399M +2 more)	Single nucleotide variant (missense variant)	Glucose-6-phosphate transport defect	GUncertain significance
Select item 551003	NM_001164277.2(SLC37A4):c.1185A>G (p.Thr395=)	SLC37A4	Single nucleotide variant (synonymous variant)	Glucose-6-phosphate transport defect	GLikely benign
Select item 554828	NM_001164277.2(SLC37A4):c.1176T>A (p.Ser392Arg)	SLC37A4 (S392R +2 more)	Single nucleotide variant (missense variant)	Glucose-6-phosphate transport defect	GUncertain significance
Select item 551534	NM_001164277.2(SLC37A4):c.1175G>A (p.Ser392Asn)	SLC37A4 (S392N +2 more)	Single nucleotide variant (missense variant)	Glucose-6-phosphate transport defect +2 more	GUncertain significance
Select item 556637	NM_001164277.2(SLC37A4):c.1173C>T (p.Tyr391=)	SLC37A4	Single nucleotide variant (synonymous variant)	Glucose-6-phosphate transport defect	GLikely benign
Select item 554698	NM_001164277.2(SLC37A4):c.1165A>G (p.Lys389Glu)	SLC37A4 (K389E +2 more)	Single nucleotide variant (missense variant)	Glucose-6-phosphate transport defect	GUncertain significance
Select item 556963	NM_001164277.2(SLC37A4):c.1164C>G (p.Ala388=)	SLC37A4	Single nucleotide variant (synonymous variant)	Glucose-6-phosphate transport defect	GLikely benign
Select item 552321	NM_001164277.2(SLC37A4):c.1155C>A (p.Ser385Arg)	SLC37A4 (S385R +2 more)	Single nucleotide variant (missense variant)	Glucose-6-phosphate transport defect	GUncertain significance
Select item 553677	NM_001164277.2(SLC37A4):c.1154G>C (p.Ser385Thr)	SLC37A4 (S385T +2 more)	Single nucleotide variant (missense variant)	Glucose-6-phosphate transport defect	GUncertain significance
Select item 551599	NM_001164277.2(SLC37A4):c.1150T>C (p.Phe384Leu)	SLC37A4 (F384L +2 more)	Single nucleotide variant (missense variant)	Glucose-6-phosphate transport defect	GUncertain significance
Select item 556636	NM_001164277.2(SLC37A4):c.1148C>T (p.Pro383Leu)	SLC37A4 (P383L +2 more)	Single nucleotide variant (missense variant)	Glucose-6-phosphate transport defect	GUncertain significance
Select item 555014	NM_001164277.2(SLC37A4):c.1142G>C (p.Gly381Ala)	SLC37A4 (G381A +2 more)	Single nucleotide variant (missense variant)	Glucose-6-phosphate transport defect	GUncertain significance
Select item 552957	NM_001164277.2(SLC37A4):c.1125-1G>A	SLC37A4	Single nucleotide variant (splice acceptor variant)	Glucose-6-phosphate transport defect	GLikely pathogenic
Select item 556292	NM_001164277.2(SLC37A4):c.1125-6T>C	SLC37A4	Single nucleotide variant (intron variant)	Glucose-6-phosphate transport defect	GConflicting classifications of pathogenicity
Select item 555011	NM_001164277.2(SLC37A4):c.1125-6T>G	SLC37A4	Single nucleotide variant (intron variant)	Glucose-6-phosphate transport defect	GConflicting classifications of pathogenicity
Select item 550435	NM_001164277.2(SLC37A4):c.1125-7_1125-6del	SLC37A4	Deletion (intron variant)	Glucose-6-phosphate transport defect	GConflicting classifications of pathogenicity
Select item 553575	NM_001164277.2(SLC37A4):c.1125-8C>T	SLC37A4	Single nucleotide variant (intron variant)	Glucose-6-phosphate transport defect	GUncertain significance
Select item 555772	NM_001164277.2(SLC37A4):c.1125-14T>C	SLC37A4	Single nucleotide variant (intron variant)	Glucose-6-phosphate transport defect	GConflicting classifications of pathogenicity
Select item 552909	NM_001164277.2(SLC37A4):c.1125-29G>A	SLC37A4	Single nucleotide variant (intron variant)	Glucose-6-phosphate transport defect	GLikely benign
Select item 557156	NM_001164277.2(SLC37A4):c.1125-41C>T	SLC37A4	Single nucleotide variant (intron variant)	Glucose-6-phosphate transport defect	GLikely benign
Select item 554784	NM_001164277.2(SLC37A4):c.1125-44G>A	SLC37A4	Single nucleotide variant (intron variant)	Glucose-6-phosphate transport defect	GLikely benign
Select item 556376	NM_001164277.2(SLC37A4):c.1125-53G>A	SLC37A4	Single nucleotide variant (intron variant)	Glucose-6-phosphate transport defect	GLikely benign
Select item 556453	NM_001164277.2(SLC37A4):c.1124+57C>T	SLC37A4	Single nucleotide variant (intron variant)	Glucose-6-phosphate transport defect	GLikely benign
Select item 552004	NM_001164277.2(SLC37A4):c.1124+55G>A	SLC37A4	Single nucleotide variant (intron variant)	Glucose-6-phosphate transport defect	GLikely benign
Select item 556476	NM_001164277.2(SLC37A4):c.1124+51T>C	SLC37A4	Single nucleotide variant (intron variant)	Glucose-6-phosphate transport defect	GLikely benign
Select item 557787	NM_001164277.2(SLC37A4):c.1124+49C>T	SLC37A4	Single nucleotide variant (intron variant)	Glucose-6-phosphate transport defect	GLikely benign
Select item 556634	NM_001164277.2(SLC37A4):c.1124+38C>G	SLC37A4	Single nucleotide variant (intron variant)	Glucose-6-phosphate transport defect	GLikely benign
Select item 556233	NM_001164277.2(SLC37A4):c.1124+38C>T	SLC37A4	Single nucleotide variant (intron variant)	Glucose-6-phosphate transport defect	GLikely benign
Select item 555714	NM_001164277.2(SLC37A4):c.1124+36C>A	SLC37A4	Single nucleotide variant (intron variant)	Glucose-6-phosphate transport defect	GLikely benign
Select item 551294	NM_001164277.2(SLC37A4):c.1124+36C>G	SLC37A4	Single nucleotide variant (intron variant)	Glucose-6-phosphate transport defect	GLikely benign
Select item 556299	NM_001164277.2(SLC37A4):c.1124+34C>T	SLC37A4	Single nucleotide variant (intron variant)	Glucose-6-phosphate transport defect	GLikely benign
Select item 550405	NM_001164277.2(SLC37A4):c.1124+26C>T	SLC37A4	Single nucleotide variant (intron variant)	Glucose-6-phosphate transport defect	GLikely benign
Select item 552557	NM_001164277.2(SLC37A4):c.1124+25T>C	SLC37A4	Single nucleotide variant (intron variant)	Glucose-6-phosphate transport defect	GLikely benign
Select item 552681	NM_001164277.2(SLC37A4):c.1124+18G>C	SLC37A4	Single nucleotide variant (intron variant)	Glucose-6-phosphate transport defect	GLikely benign
Select item 557019	NM_001164277.2(SLC37A4):c.1124+8T>C	SLC37A4	Single nucleotide variant (intron variant)	Glucose-6-phosphate transport defect	GLikely benign
Select item 558042	NM_001164277.2(SLC37A4):c.1124+7G>A	SLC37A4	Single nucleotide variant (intron variant)	Glucose-6-phosphate transport defect	GLikely benign
Select item 558508	NM_001164277.2(SLC37A4):c.1124+4A>G	SLC37A4	Single nucleotide variant (intron variant)	Glucose-6-phosphate transport defect	GUncertain significance
Select item 554500	NM_001164277.2(SLC37A4):c.1115T>C (p.Met372Thr)	SLC37A4 (M372T +2 more)	Single nucleotide variant (missense variant)	Glucose-6-phosphate transport defect	GUncertain significance
Select item 556749	NM_001164277.2(SLC37A4):c.1101C>T (p.Ala367=)	SLC37A4	Single nucleotide variant (synonymous variant)	Glucose-6-phosphate transport defect	GLikely benign
Select item 556747	NM_001164277.2(SLC37A4):c.1079A>G (p.Asn360Ser)	SLC37A4 (N360S +2 more)	Single nucleotide variant (missense variant)	Glucose-6-phosphate transport defect	GUncertain significance
Select item 550758	NM_001164277.2(SLC37A4):c.1077C>G (p.Pro359=)	SLC37A4	Single nucleotide variant (synonymous variant)	Glucose-6-phosphate transport defect	GLikely benign
Select item 552517	NM_001164277.2(SLC37A4):c.1076C>T (p.Pro359Leu)	SLC37A4 (P359L +2 more)	Single nucleotide variant (missense variant)	Glucose-6-phosphate transport defect	GUncertain significance
Select item 553532	NM_001164277.2(SLC37A4):c.1071C>T (p.Ala357=)	SLC37A4	Single nucleotide variant (synonymous variant)	Glucose-6-phosphate transport defect	GLikely benign
Select item 551246	NM_001164277.2(SLC37A4):c.1068T>C (p.Ser356=)	SLC37A4	Single nucleotide variant (synonymous variant)	Glucose-6-phosphate transport defect	GLikely benign
Select item 553753	NM_001164277.2(SLC37A4):c.1057G>T (p.Ala353Ser)	SLC37A4 (A353S +2 more)	Single nucleotide variant (missense variant)	Glucose-6-phosphate transport defect	GUncertain significance
Select item 550838	NM_001164277.2(SLC37A4):c.1055T>C (p.Ile352Thr)	SLC37A4 (I352T +2 more)	Single nucleotide variant (missense variant)	Glucose-6-phosphate transport defect	GUncertain significance
Select item 551314	NM_001164277.2(SLC37A4):c.1043T>C (p.Leu348Pro)	SLC37A4 (L348P +2 more)	Single nucleotide variant (missense variant)	Glucose-6-phosphate transport defect	GUncertain significance
Select item 556651	NM_001164277.2(SLC37A4):c.1042C>T (p.Leu348=)	SLC37A4	Single nucleotide variant (synonymous variant)	Glucose-6-phosphate transport defect	GLikely benign
Select item 551352	NM_001164277.2(SLC37A4):c.1039G>A (p.Ala347Thr)	SLC37A4 (A347T +2 more)	Single nucleotide variant (missense variant)	Glucose-6-phosphate transport defect	GUncertain significance
Select item 558392	NM_001164277.2(SLC37A4):c.1038T>G (p.Ile346Met)	SLC37A4 (I346M +2 more)	Single nucleotide variant (missense variant)	Glucose-6-phosphate transport defect	GUncertain significance
Select item 550831	NM_001164277.2(SLC37A4):c.1032C>G (p.Gly344=)	SLC37A4	Single nucleotide variant (synonymous variant)	Glucose-6-phosphate transport defect	GLikely benign
Select item 555634	NM_001164277.2(SLC37A4):c.1028A>G (p.Tyr343Cys)	SLC37A4 (Y343C +2 more)	Single nucleotide variant (missense variant)	Glucose-6-phosphate transport defect	GUncertain significance
Select item 550096	NM_001164277.2(SLC37A4):c.1023C>T (p.Ser341=)	SLC37A4	Single nucleotide variant (synonymous variant)	Glucose-6-phosphate transport defect +1 more	GLikely benign
Select item 556791	NM_001164277.2(SLC37A4):c.1018T>G (p.Phe340Val)	SLC37A4 (F340V +2 more)	Single nucleotide variant (missense variant)	Glucose-6-phosphate transport defect	GUncertain significance
Select item 558439	NM_001164277.2(SLC37A4):c.1008T>C (p.Ala336=)	SLC37A4	Single nucleotide variant (synonymous variant)	Glucose-6-phosphate transport defect	GLikely benign
Select item 550787	NM_001164277.2(SLC37A4):c.997G>C (p.Val333Leu)	SLC37A4 (V333L +2 more)	Single nucleotide variant (missense variant)	Glucose-6-phosphate transport defect	GUncertain significance
Select item 558403	NM_001164277.2(SLC37A4):c.993C>T (p.Ile331=)	SLC37A4	Single nucleotide variant (synonymous variant)	Glucose-6-phosphate transport defect	GLikely benign
Select item 550764	NM_001164277.2(SLC37A4):c.993C>G (p.Ile331Met)	SLC37A4 (I331M +2 more)	Single nucleotide variant (missense variant)	Glucose-6-phosphate transport defect	GUncertain significance
Select item 551256	NM_001164277.2(SLC37A4):c.989G>C (p.Trp330Ser)	SLC37A4 (W330S +2 more)	Single nucleotide variant (missense variant)	Glucose-6-phosphate transport defect	GUncertain significance
Select item 556157	NM_001164277.2(SLC37A4):c.986-3_989del	SLC37A4	Deletion (splice acceptor variant)	Glucose-6-phosphate transport defect	GLikely pathogenic
Select item 554795	NM_001164277.2(SLC37A4):c.985C>A (p.Leu329Ile)	SLC37A4 (L329I +2 more)	Single nucleotide variant (missense variant)	Glucose-6-phosphate transport defect	GUncertain significance
Select item 555556	NM_001164277.2(SLC37A4):c.986-4del	SLC37A4	Deletion (intron variant)	Glucose-6-phosphate transport defect	GUncertain significance
Select item 555032	NM_001164277.2(SLC37A4):c.986-8C>T	SLC37A4	Single nucleotide variant (intron variant)	Glucose-6-phosphate transport defect	GConflicting classifications of pathogenicity
Select item 555717	NM_001164277.2(SLC37A4):c.986-11G>A	SLC37A4	Single nucleotide variant (intron variant)	Glucose-6-phosphate transport defect	GUncertain significance
Select item 555586	NM_001164277.2(SLC37A4):c.986-12T>C	SLC37A4	Single nucleotide variant (intron variant)	Glucose-6-phosphate transport defect	GUncertain significance
Select item 215183	NM_001164277.2(SLC37A4):c.986-14T>G	SLC37A4	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 556760	NM_001164277.2(SLC37A4):c.986-15C>T	SLC37A4	Single nucleotide variant (intron variant)	Glucose-6-phosphate transport defect	GConflicting classifications of pathogenicity
Select item 551423	NM_001164277.2(SLC37A4):c.986-18C>T	SLC37A4	Single nucleotide variant (intron variant)	Glucose-6-phosphate transport defect	GLikely benign
Select item 555543	NM_001164277.2(SLC37A4):c.985+295G>A	SLC37A4	Single nucleotide variant (intron variant)	Glucose-6-phosphate transport defect	GLikely benign
Select item 552727	NM_001164277.2(SLC37A4):c.985+290T>C	SLC37A4	Single nucleotide variant (intron variant)	Glucose-6-phosphate transport defect	GLikely benign
Select item 553895	NM_001164277.2(SLC37A4):c.985+288T>G	SLC37A4	Single nucleotide variant (intron variant)	Glucose-6-phosphate transport defect	GLikely benign
Select item 557435	NM_001164277.2(SLC37A4):c.985+286G>A	SLC37A4	Single nucleotide variant (intron variant)	Glucose-6-phosphate transport defect	GLikely benign
Select item 556215	NM_001164277.2(SLC37A4):c.985+283A>G	SLC37A4	Single nucleotide variant (intron variant)	Glucose-6-phosphate transport defect	GLikely benign
Select item 554139	NM_001164277.2(SLC37A4):c.985+278G>A	SLC37A4	Single nucleotide variant (intron variant)	Glucose-6-phosphate transport defect	GLikely benign
Select item 554638	NM_001164277.2(SLC37A4):c.985+276G>A	SLC37A4	Single nucleotide variant (intron variant +1 more)	Glucose-6-phosphate transport defect	GLikely benign
Select item 557724	NM_001164277.2(SLC37A4):c.985+271A>C	SLC37A4 (H349P)	Single nucleotide variant (missense variant +1 more)	Glucose-6-phosphate transport defect	GUncertain significance
Select item 392994	NM_001164277.2(SLC37A4):c.985+270C>T	SLC37A4 (H349Y)	Single nucleotide variant (missense variant +1 more)	Glucose-6-phosphate transport defect +1 more	GConflicting classifications of pathogenicity
Select item 550110	NM_001164277.2(SLC37A4):c.985+265_985+266insCGGAGCTCACAGGCTTTT	SLC37A4	Insertion (inframe_insertion +1 more)	Glucose-6-phosphate transport defect	GLikely benign
Select item 558350	NM_001164277.2(SLC37A4):c.985+259G>A	SLC37A4 (G345D)	Single nucleotide variant (missense variant +1 more)	Glucose-6-phosphate transport defect	GUncertain significance
Select item 557439	NM_001164277.2(SLC37A4):c.985+259G>C	SLC37A4 (G345A)	Single nucleotide variant (missense variant +1 more)	Glucose-6-phosphate transport defect	GUncertain significance
Select item 553051	NM_001164277.2(SLC37A4):c.985+252C>G	SLC37A4 (L343V)	Single nucleotide variant (missense variant +1 more)	Glucose-6-phosphate transport defect	GLikely benign
Select item 551112	NM_001164277.2(SLC37A4):c.985+248G>A	SLC37A4	Single nucleotide variant (synonymous variant +1 more)	Glucose-6-phosphate transport defect	GLikely benign

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