TRPM5[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 151263	GRCh38/hg38 11p15.5-15.4(chr11:61793-10727969)x3	DENND5A, DNHD1 +723 more	Copy number gain	See cases	GPathogenic
Select item 154823	GRCh38/hg38 11p15.5-15.4(chr11:196855-5321874)x3	A-GAMMA3'E, ANO9 +388 more	Copy number gain	See cases	GPathogenic
Select item 57274	GRCh38/hg38 11p15.5-15.4(chr11:196966-3377077)x3	ANO9, AP2A2 +271 more	Copy number gain	See cases	GPathogenic
Select item 57258	GRCh38/hg38 11p15.5-15.4(chr11:196966-4435344)x3	LOC130005164, LOC130005165 +332 more	Copy number gain	See cases	GPathogenic
Select item 59748	GRCh38/hg38 11p15.5-15.4(chr11:218365-3377077)x3	ANO9, AP2A2 +266 more	Copy number gain	See cases	GPathogenic
Select item 144515	GRCh38/hg38 11p15.5-15.1(chr11:446754-18904742)x3	TRIM22, TRIM3 +917 more	Copy number gain	See cases	GPathogenic
Select item 14445	NC_000011.10:g.(499700_4999400)_(5279346_5279697)del	ASCL2, BGLT3 +328 more	Deletion	Thalassemia, gamma-delta-beta	GPathogenic
Select item 154397	GRCh38/hg38 11p15.5-15.4(chr11:1132899-3213923)x1	ASCL2, BRSK2 +129 more	Copy number loss	See cases	GPathogenic
Select item 147689	GRCh38/hg38 11p15.5-15.4(chr11:1537379-3360769)x3	C11orf21, CARS1 +115 more	Copy number gain	See cases	GPathogenic
Select item 147964	GRCh38/hg38 11p15.5-15.4(chr11:1975511-3624139)x1	ASCL2, C11orf21 +83 more	Copy number loss	See cases	GUncertain significance
Select item 146876	GRCh38/hg38 11p15.5-15.4(chr11:1975511-2888695)x3	ASCL2, C11orf21 +52 more	Copy number gain	See cases	GPathogenic
Select item 155520	GRCh38/hg38 11p15.5(chr11:2106943-2565669)x3	ASCL2, C11orf21 +32 more	Copy number gain	See cases	GUncertain significance
Select item 148331	GRCh38/hg38 11p15.5(chr11:2149352-2467542)x3	ASCL2, C11orf21 +28 more	Copy number gain	See cases	GUncertain significance
Select item 3183368	NM_014555.4(TRPM5):c.3488C>T (p.Ser1163Leu)	TRPM5 (S1163L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2345642	NM_014555.4(TRPM5):c.3469G>A (p.Gly1157Arg)	TRPM5 (G1157R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2241727	NM_014555.4(TRPM5):c.3446G>C (p.Gly1149Ala)	TRPM5 (G1149A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2368286	NM_014555.4(TRPM5):c.3427G>C (p.Ala1143Pro)	TRPM5 (A1143P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3329268	NM_014555.4(TRPM5):c.3425T>C (p.Val1142Ala)	TRPM5 (V1142A)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3329265	NM_014555.4(TRPM5):c.3409G>A (p.Glu1137Lys)	TRPM5 (E1137K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 786185	NM_014555.4(TRPM5):c.3406G>A (p.Gly1136Ser)	TRPM5 (G1136S)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2266704	NM_014555.4(TRPM5):c.3388C>T (p.Arg1130Trp)	TRPM5 (R1130W)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2641356	NM_014555.4(TRPM5):c.3380G>A (p.Gly1127Asp)	TRPM5 (G1127D)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2481347	NM_014555.4(TRPM5):c.3368T>A (p.Leu1123Gln)	TRPM5 (L1123Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2527538	NM_014555.4(TRPM5):c.3361G>C (p.Asp1121His)	TRPM5 (D1121H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2294954	NM_014555.4(TRPM5):c.3359C>T (p.Ala1120Val)	TRPM5 (A1120V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3183367	NM_014555.4(TRPM5):c.3309G>C (p.Lys1103Asn)	TRPM5 (K1103N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2349553	NM_014555.4(TRPM5):c.3302G>A (p.Arg1101His)	TRPM5 (R1101H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2595149	NM_014555.4(TRPM5):c.3301C>T (p.Arg1101Cys)	TRPM5 (R1101C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2261041	NM_014555.4(TRPM5):c.3281G>A (p.Gly1094Asp)	TRPM5 (G1094D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2525407	NM_014555.4(TRPM5):c.3235C>T (p.Arg1079Trp)	TRPM5 (R1079W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2263052	NM_014555.4(TRPM5):c.3206G>A (p.Arg1069Gln)	TRPM5 (R1069Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2610286	NM_014555.4(TRPM5):c.3074G>T (p.Arg1025Leu)	TRPM5 (R1025L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3183366	NM_014555.4(TRPM5):c.3050T>C (p.Leu1017Pro)	TRPM5 (L1017P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3329277	NM_014555.4(TRPM5):c.3026C>T (p.Ala1009Val)	TRPM5 (A1009V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2641357	NM_014555.4(TRPM5):c.2994C>T (p.Tyr998=)	TRPM5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2620745	NM_014555.4(TRPM5):c.2972T>C (p.Met991Thr)	TRPM5 (M991T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2523309	NM_014555.4(TRPM5):c.2972T>G (p.Met991Arg)	TRPM5 (M991R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3183365	NM_014555.4(TRPM5):c.2971A>G (p.Met991Val)	TRPM5 (M991V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3183364	NM_014555.4(TRPM5):c.2965G>A (p.Ala989Thr)	TRPM5 (A989T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2553268	NM_014555.4(TRPM5):c.2926G>A (p.Ala976Thr)	TRPM5 (A976T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2546627	NM_014555.4(TRPM5):c.2893G>T (p.Val965Phe)	TRPM5 (V965F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2340855	NM_014555.4(TRPM5):c.2845C>T (p.Leu949Phe)	TRPM5 (L949F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2306509	NM_014555.4(TRPM5):c.2840C>T (p.Pro947Leu)	TRPM5 (P947L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2641358	NM_014555.4(TRPM5):c.2808C>T (p.His936=)	TRPM5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3183363	NM_014555.4(TRPM5):c.2800T>C (p.Ser934Pro)	TRPM5 (S934P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2211072	NM_014555.4(TRPM5):c.2678C>T (p.Ala893Val)	TRPM5 (A893V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2641359	NM_014555.4(TRPM5):c.2632T>C (p.Phe878Leu)	TRPM5 (F878L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2280422	NM_014555.4(TRPM5):c.2620T>G (p.Phe874Val)	TRPM5 (F874V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2398041	NM_014555.4(TRPM5):c.2602C>T (p.Arg868Cys)	TRPM5 (R868C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3183362	NM_014555.4(TRPM5):c.2587A>G (p.Ile863Val)	TRPM5 (I863V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2222511	NM_014555.4(TRPM5):c.2434A>G (p.Met812Val)	TRPM5 (M812V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2606339	NM_014555.4(TRPM5):c.2374G>C (p.Asp792His)	TRPM5 (D792H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2284562	NM_014555.4(TRPM5):c.2350C>T (p.Arg784Trp)	TRPM5 (R784W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3183361	NM_014555.4(TRPM5):c.2230G>A (p.Ala744Thr)	TRPM5 (A744T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3183360	NM_014555.4(TRPM5):c.2215G>A (p.Val739Met)	TRPM5 (V739M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2368440	NM_014555.4(TRPM5):c.2168G>A (p.Arg723His)	TRPM5 (R723H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3329279	NM_014555.4(TRPM5):c.2146C>T (p.Arg716Cys)	TRPM5 (R716C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2301712	NM_014555.4(TRPM5):c.2126C>T (p.Ala709Val)	TRPM5 (A709V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3329273	NM_014555.4(TRPM5):c.2068A>G (p.Lys690Glu)	TRPM5 (K690E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2481346	NM_014555.4(TRPM5):c.2045A>G (p.Asp682Gly)	TRPM5 (D682G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2349122	NM_014555.4(TRPM5):c.1982A>G (p.Tyr661Cys)	TRPM5 (Y661C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2362839	NM_014555.4(TRPM5):c.1978G>A (p.Val660Ile)	TRPM5 (V660I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2206050	NM_014555.4(TRPM5):c.1948C>G (p.Leu650Val)	TRPM5 (L650V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2364380	NM_014555.4(TRPM5):c.1927G>A (p.Ala643Thr)	TRPM5 (A643T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2210149	NM_014555.4(TRPM5):c.1882G>A (p.Gly628Ser)	TRPM5 (G628S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3329278	NM_014555.4(TRPM5):c.1849G>A (p.Glu617Lys)	TRPM5 (E617K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 716966	NM_014555.4(TRPM5):c.1848C>T (p.Thr616=)	TRPM5	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2287029	NM_014555.4(TRPM5):c.1831T>C (p.Cys611Arg)	TRPM5 (C611R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2534242	NM_014555.4(TRPM5):c.1811G>A (p.Arg604His)	TRPM5 (R604H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2380626	NM_014555.4(TRPM5):c.1789G>A (p.Ala597Thr)	TRPM5 (A597T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3329270	NM_014555.4(TRPM5):c.1783G>A (p.Ala595Thr)	TRPM5 (A595T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3183358	NM_014555.4(TRPM5):c.1780C>T (p.Arg594Cys)	TRPM5 (R594C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 785334	NM_014555.4(TRPM5):c.1722G>A (p.Ala574=)	TRPM5	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2377822	NM_014555.4(TRPM5):c.1721C>A (p.Ala574Glu)	TRPM5 (A574E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3329280	NM_014555.4(TRPM5):c.1717G>A (p.Glu573Lys)	TRPM5 (E573K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3329269	NM_014555.4(TRPM5):c.1714C>T (p.Arg572Cys)	TRPM5 (R572C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2370244	NM_014555.4(TRPM5):c.1712C>T (p.Thr571Met)	TRPM5 (T571M)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3329272	NM_014555.4(TRPM5):c.1708G>A (p.Ala570Thr)	TRPM5 (A570T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2519465	NM_014555.4(TRPM5):c.1666A>C (p.Lys556Gln)	TRPM5 (K556Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2407962	NM_014555.4(TRPM5):c.1599G>A (p.Met533Ile)	TRPM5 (M533I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2601285	NM_014555.4(TRPM5):c.1589G>T (p.Arg530Leu)	TRPM5 (R530L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3329266	NM_014555.4(TRPM5):c.1543G>A (p.Glu515Lys)	TRPM5 (E515K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 777197	NM_014555.4(TRPM5):c.1499G>A (p.Arg500Gln)	TRPM5 (R500Q)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2336006	NM_014555.4(TRPM5):c.1476G>T (p.Arg492Ser)	TRPM5 (R492S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2512064	NM_014555.4(TRPM5):c.1469G>A (p.Arg490His)	TRPM5 (R490H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2314094	NM_014555.4(TRPM5):c.1463G>C (p.Gly488Ala)	TRPM5 (G488A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2335787	NM_014555.4(TRPM5):c.1457G>C (p.Arg486Pro)	TRPM5 (R486P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2603098	NM_014555.4(TRPM5):c.1429G>A (p.Ala477Thr)	TRPM5 (A477T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2397219	NM_014555.4(TRPM5):c.1425G>C (p.Gln475His)	TRPM5 (Q475H)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2262585	NM_014555.4(TRPM5):c.1403G>T (p.Arg468Leu)	TRPM5 (R468L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 723529	NM_014555.4(TRPM5):c.1365C>T (p.Pro455=)	TRPM5	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 3329267	NM_014555.4(TRPM5):c.1355G>A (p.Arg452Gln)	TRPM5 (R452Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2562939	NM_014555.4(TRPM5):c.1354C>T (p.Arg452Trp)	TRPM5 (R452W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2528026	NM_014555.4(TRPM5):c.1351G>A (p.Ala451Thr)	TRPM5 (A451T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2350372	NM_014555.4(TRPM5):c.1340G>A (p.Gly447Asp)	TRPM5 (G447D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3183356	NM_014555.4(TRPM5):c.1319G>A (p.Arg440Gln)	TRPM5 (R440Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3183355	NM_014555.4(TRPM5):c.1306C>G (p.Gln436Glu)	TRPM5 (Q436E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2468629	NM_014555.4(TRPM5):c.1301G>A (p.Arg434Gln)	TRPM5 (R434Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2378437	NM_014555.4(TRPM5):c.1300C>T (p.Arg434Trp)	TRPM5 (R434W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 712384	NM_014555.4(TRPM5):c.1271G>A (p.Arg424His)	TRPM5 (R424H)	Single nucleotide variant (missense variant)	not provided	GBenign

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