"GeneDx"[submitter] AND "TRPM6"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59108	GRCh38/hg38 9q21.13-21.2(chr9:72224348-77332127)x1	ALDH1A1, ANXA1 +90 more	Copy number loss	See cases	GPathogenic
Select item 367291	NM_017662.5(TRPM6):c.*238G>A	TRPM6	Single nucleotide variant (3 prime UTR variant)	Intestinal hypomagnesemia 1 +1 more	GBenign
Select item 1245297	NM_017662.5(TRPM6):c.5936-35T>A	TRPM6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1295775	NM_017662.5(TRPM6):c.5935+340G>C	TRPM6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1221845	NM_017662.5(TRPM6):c.5935+292T>A	TRPM6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1249290	NM_017662.5(TRPM6):c.5935+261C>T	TRPM6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1223328	NM_017662.5(TRPM6):c.5776+158A>G	TRPM6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1283302	NM_017662.5(TRPM6):c.5776+23A>G	TRPM6	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1212129	NM_017662.5(TRPM6):c.5570+53C>T	TRPM6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1187539	NM_017662.5(TRPM6):c.5488-49G>C	TRPM6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 914404	NM_017662.5(TRPM6):c.5339G>A (p.Arg1780His)	TRPM6 (R1780H +1 more)	Single nucleotide variant (missense variant)	Intestinal hypomagnesemia 1 +2 more	GUncertain significance
Select item 1223288	NM_017662.5(TRPM6):c.5201-19C>A	TRPM6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1198480	NM_017662.5(TRPM6):c.5135-182C>A	TRPM6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1237849	NM_017662.5(TRPM6):c.5134+266A>G	TRPM6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1232072	NM_017662.5(TRPM6):c.5083+321T>C	TRPM6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1231790	NM_017662.5(TRPM6):c.5083+53C>T	TRPM6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1276971	NM_017662.5(TRPM6):c.5058-186A>G	TRPM6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1193848	NM_017662.5(TRPM6):c.4999-75T>C	TRPM6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 218740	NM_017662.5(TRPM6):c.4988A>G (p.Gln1663Arg)	TRPM6 (Q1663R +1 more)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign/Likely benign
Select item 367300	NM_017662.5(TRPM6):c.4764T>C (p.Asn1588=)	TRPM6	Single nucleotide variant (synonymous variant)	Intestinal hypomagnesemia 1 +1 more	GBenign
Select item 367301	NM_017662.5(TRPM6):c.4750A>G (p.Lys1584Glu)	TRPM6 (K1584E +1 more)	Single nucleotide variant (missense variant)	Intestinal hypomagnesemia 1 +1 more	GBenign
Select item 367302	NM_017662.5(TRPM6):c.4707A>T (p.Ala1569=)	TRPM6	Single nucleotide variant (synonymous variant)	Intestinal hypomagnesemia 1 +1 more	GBenign/Likely benign
Select item 1178535	NM_017662.5(TRPM6):c.4673-62G>A	TRPM6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 367304	NM_017662.5(TRPM6):c.4569A>T (p.Thr1523=)	TRPM6	Single nucleotide variant (synonymous variant)	Intestinal hypomagnesemia 1 +1 more	GBenign/Likely benign
Select item 367305	NM_017662.5(TRPM6):c.4221C>T (p.His1407=)	TRPM6	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 367306	NM_017662.5(TRPM6):c.4177G>A (p.Val1393Ile)	TRPM6 (V1393I +1 more)	Single nucleotide variant (missense variant)	Intestinal hypomagnesemia 1 +1 more	GBenign
Select item 2444636	NM_017662.5(TRPM6):c.4027C>T (p.Gln1343Ter)	TRPM6 (Q1338* +1 more)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 3377881	NM_017662.5(TRPM6):c.3665T>A (p.Leu1222Gln)	TRPM6 (L1217Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1282968	NM_017662.5(TRPM6):c.3537-32C>T	TRPM6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1273038	NM_017662.5(TRPM6):c.3537-142G>A	TRPM6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1273961	NM_017662.5(TRPM6):c.3537-198T>C	TRPM6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1255028	NM_017662.5(TRPM6):c.3536+319G>C	TRPM6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1248076	NM_017662.5(TRPM6):c.3536+260CG[6]	TRPM6	Microsatellite (intron variant)	not provided	GBenign
Select item 1187512	NM_017662.5(TRPM6):c.3536+270T>C	TRPM6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1252711	NM_017662.5(TRPM6):c.3536+128C>T	TRPM6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1267113	NM_017662.5(TRPM6):c.3404-108_3404-107dup	TRPM6	Duplication (intron variant)	not provided	GBenign
Select item 1261220	NM_017662.5(TRPM6):c.3404-187A>G	TRPM6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1291972	NM_017662.5(TRPM6):c.3404-231C>T	TRPM6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1272182	NM_017662.5(TRPM6):c.3403+166C>T	TRPM6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1276225	NM_017662.5(TRPM6):c.3403+148G>A	TRPM6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1312269	NM_017662.5(TRPM6):c.3330C>A (p.His1110Gln)	TRPM6 (H1105Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 733607	NM_017662.5(TRPM6):c.3289G>A (p.Glu1097Lys)	TRPM6 (E1097K +1 more)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 1288523	NM_017662.5(TRPM6):c.3210-68A>G	TRPM6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1266290	NM_017662.5(TRPM6):c.3210-133C>T	TRPM6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1254396	NM_017662.5(TRPM6):c.3095-17A>T	TRPM6	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 1295829	NM_017662.5(TRPM6):c.3094+76A>G	TRPM6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1240579	NM_017662.5(TRPM6):c.2920-179T>C	TRPM6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1245682	NM_017662.5(TRPM6):c.2919+134A>C	TRPM6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1279107	NM_017662.5(TRPM6):c.2919+130A>G	TRPM6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1283594	NM_017662.5(TRPM6):c.2919+72A>G	TRPM6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1326614	NM_017662.5(TRPM6):c.2919+59T>C	TRPM6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1310998	NM_017662.5(TRPM6):c.2842T>C (p.Phe948Leu)	TRPM6 (F943L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1283971	NM_017662.5(TRPM6):c.2667+327C>T	TRPM6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1294547	NM_017662.5(TRPM6):c.2667+296T>C	TRPM6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2579414	NM_017662.5(TRPM6):c.2560A>G (p.Met854Val)	TRPM6 (M849V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1200633	NM_017662.5(TRPM6):c.2539-157T>C	TRPM6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1243602	NM_017662.5(TRPM6):c.2539-186C>T	TRPM6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1249669	NM_017662.5(TRPM6):c.2539-263C>T	TRPM6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1707268	NM_017662.5(TRPM6):c.2538+130G>A	TRPM6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1276377	NM_017662.5(TRPM6):c.2538+62G>T	TRPM6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 367314	NM_017662.5(TRPM6):c.2442G>A (p.Gln814=)	TRPM6	Single nucleotide variant (synonymous variant)	Intestinal hypomagnesemia 1 +1 more	GBenign
Select item 1270282	NM_017662.5(TRPM6):c.2392-50T>C	TRPM6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1291312	NM_017662.5(TRPM6):c.2391+267A>G	TRPM6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 367317	NM_017662.5(TRPM6):c.2319G>C (p.Gln773His)	TRPM6 (Q773H +1 more)	Single nucleotide variant (missense variant)	Intestinal hypomagnesemia 1 +1 more	GConflicting classifications of pathogenicity
Select item 1269145	NM_017662.5(TRPM6):c.2238+170A>G	TRPM6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 367318	NM_017662.5(TRPM6):c.2124T>G (p.Leu708=)	TRPM6	Single nucleotide variant (synonymous variant)	Intestinal hypomagnesemia 1 +1 more	GBenign
Select item 913009	NM_017662.5(TRPM6):c.2087C>T (p.Thr696Met)	TRPM6 (T691M +1 more)	Single nucleotide variant (missense variant)	Intestinal hypomagnesemia 1 +1 more	GUncertain significance
Select item 1183699	NM_017662.5(TRPM6):c.2010-152dup	TRPM6	Duplication (intron variant)	not provided	GLikely benign
Select item 1241197	NM_017662.5(TRPM6):c.2010-138del	TRPM6	Deletion (intron variant)	not provided	GBenign
Select item 1221250	NM_017662.5(TRPM6):c.2010-139_2010-138del	TRPM6	Deletion (intron variant)	not provided	GBenign
Select item 1197720	NM_017662.5(TRPM6):c.2010-140_2010-138del	TRPM6	Deletion (intron variant)	not provided	GLikely benign
Select item 2505702	NM_017662.5(TRPM6):c.2009+5G>A	TRPM6	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 367319	NM_017662.5(TRPM6):c.1872T>C (p.Ala624=)	TRPM6	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 2501859	NM_017662.5(TRPM6):c.1865A>C (p.Lys622Thr)	TRPM6 (K617T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 367320	NM_017662.5(TRPM6):c.1851G>A (p.Leu617=)	TRPM6	Single nucleotide variant (synonymous variant)	Intestinal hypomagnesemia 1 +1 more	GBenign
Select item 1314306	NM_017662.5(TRPM6):c.1756T>G (p.Ser586Ala)	TRPM6 (S581A +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1256803	NM_017662.5(TRPM6):c.1732-100G>C	TRPM6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1276328	NM_017662.5(TRPM6):c.1732-204C>G	TRPM6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1224039	NM_017662.5(TRPM6):c.1732-315G>A	TRPM6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1706776	NM_017662.5(TRPM6):c.1731+39T>A	TRPM6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 367322	NM_017662.5(TRPM6):c.1639C>T (p.His547Tyr)	TRPM6 (H547Y +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 1181999	NM_017662.5(TRPM6):c.1639-171_1639-170insT	TRPM6	Insertion (intron variant)	not provided	GBenign
Select item 1244877	NM_017662.5(TRPM6):c.1497+274A>T	TRPM6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1329738	NM_017662.5(TRPM6):c.1497+243T>C	TRPM6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1238035	NM_017662.5(TRPM6):c.1497+205G>C	TRPM6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1226030	NM_017662.5(TRPM6):c.1497+93T>G	TRPM6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1180363	NM_017662.5(TRPM6):c.1444-255A>T	TRPM6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1191923	NM_017662.5(TRPM6):c.1443+152T>A	TRPM6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1204166	NM_017662.5(TRPM6):c.1443+140C>T	TRPM6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1237924	NM_017662.5(TRPM6):c.1443+42A>G	TRPM6	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 733733	NM_017662.5(TRPM6):c.1421G>A (p.Arg474Gln)	TRPM6 (R469Q +1 more)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 1702656	NM_017662.5(TRPM6):c.1309-13G>C	TRPM6	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1300320	NM_017662.5(TRPM6):c.1309-31T>C	TRPM6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1281598	NM_017662.5(TRPM6):c.1309-134del	TRPM6	Deletion (intron variant)	not provided	GBenign
Select item 1257106	NM_017662.5(TRPM6):c.1309-294C>G	TRPM6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1247697	NM_017662.5(TRPM6):c.1308+221C>A	TRPM6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1271016	NM_017662.5(TRPM6):c.1308+180dup	TRPM6	Duplication (intron variant)	not provided	GBenign
Select item 1179674	NM_017662.5(TRPM6):c.1308+180_1308+181dup	TRPM6	Duplication (intron variant)	not provided	GBenign
Select item 1241611	NM_017662.5(TRPM6):c.1308+203del	TRPM6	Deletion (intron variant)	not provided	GBenign
Select item 1202407	NM_017662.5(TRPM6):c.1134+283A>C	TRPM6	Single nucleotide variant (intron variant)	not provided	GLikely benign

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