ClinVar for Gene (Select 79054) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3183442	NM_024080.5(TRPM8):c.832C>T (p.Arg278Trp)	TRPM8 (R201W +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3183441	NM_024080.5(TRPM8):c.787G>A (p.Val263Met)	TRPM8 (V213M +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3183440	NM_024080.5(TRPM8):c.655A>C (p.Met219Leu)	TRPM8 (M169L +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3183439	NM_024080.5(TRPM8):c.572A>G (p.Tyr191Cys)	TRPM8 (Y114C +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3183438	NM_024080.5(TRPM8):c.497G>A (p.Ser166Asn)	TRPM8 (S166N +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3183437	NM_024080.5(TRPM8):c.494T>C (p.Phe165Ser)	TRPM8 (F115S +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3183436	NM_024080.5(TRPM8):c.3212C>T (p.Ala1071Val)	TRPM8 (A994V +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3183434	NM_024080.5(TRPM8):c.2903A>C (p.Asn968Thr)	TRPM8 (N573T +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3183433	NM_024080.5(TRPM8):c.2073G>C (p.Lys691Asn)	TRPM8 (K296N +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3183432	NM_024080.5(TRPM8):c.2013G>T (p.Gln671His)	TRPM8 (Q389H +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3183431	NM_024080.5(TRPM8):c.1918G>C (p.Ala640Pro)	TRPM8 (A590P +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3183430	NM_024080.5(TRPM8):c.1498C>A (p.His500Asn)	TRPM8 (H218N +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3183429	NM_024080.5(TRPM8):c.1466C>T (p.Thr489Ile)	TRPM8 (T412I +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3183428	NM_024080.5(TRPM8):c.1351C>A (p.Arg451Ser)	TRPM8 (R169S +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3183427	NM_024080.5(TRPM8):c.122T>C (p.Leu41Ser)	TRPM8 (L41S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3148939	GRCh37/hg19 2q35-37.3(chr2:216815496-242782258)x3	AAMP, ABCB6 +218 more	Copy number gain	See cases	GPathogenic
Select item 2685879	GRCh37/hg19 2q36.2-37.3(chr2:225995545-237594511)x3	ACKR3, AGAP1 +79 more	Copy number gain	not provided	GPathogenic
Select item 2685875	GRCh37/hg19 2q35-37.3(chr2:218376403-242783384)x3	AAMP, ABCB6 +208 more	Copy number gain	not provided	GPathogenic
Select item 2671587	Single allele	CHRND, LRRFIP1 +123 more	Duplication	not provided	GPathogenic
Select item 2621447	NM_024080.5(TRPM8):c.1480A>G (p.Thr494Ala)	TRPM8 (T417A +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2621148	NM_024080.5(TRPM8):c.2106A>G (p.Ile702Met)	TRPM8 (I420M +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2619391	NM_024080.5(TRPM8):c.3059A>C (p.Tyr1020Ser)	TRPM8 (Y1020S +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2597808	NM_024080.5(TRPM8):c.2375A>G (p.Asn792Ser)	TRPM8 (N510S +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2597278	NM_024080.5(TRPM8):c.820G>A (p.Glu274Lys)	TRPM8 (E274K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2592021	NM_024080.5(TRPM8):c.82G>A (p.Ala28Thr)	TRPM8 (A28T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2590798	NM_024080.5(TRPM8):c.318T>G (p.Ile106Met)	TRPM8 (I29M +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2557706	NM_024080.5(TRPM8):c.1127G>A (p.Ser376Asn)	TRPM8 (S376N +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2539725	NM_024080.5(TRPM8):c.71T>A (p.Leu24Gln)	TRPM8 (L24Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2534047	NM_024080.5(TRPM8):c.1595G>A (p.Arg532Gln)	TRPM8 (R137Q +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2532031	NM_024080.5(TRPM8):c.193G>C (p.Glu65Gln)	TRPM8 (E65Q +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2526583	NM_024080.5(TRPM8):c.2408C>T (p.Thr803Met)	TRPM8 (T753M +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2486670	NM_024080.5(TRPM8):c.2860T>C (p.Trp954Arg)	TRPM8 (W559R +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2482138	NM_024080.5(TRPM8):c.3059A>G (p.Tyr1020Cys)	TRPM8 (Y625C +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2476930	NM_024080.5(TRPM8):c.2440G>A (p.Val814Ile)	TRPM8 (V14I +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2473140	NM_024080.5(TRPM8):c.575T>C (p.Ile192Thr)	TRPM8 (I142T +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2471432	NM_024080.5(TRPM8):c.1759T>C (p.Cys587Arg)	TRPM8 (C305R +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2464425	NM_024080.5(TRPM8):c.2815C>A (p.Leu939Met)	TRPM8 (L139M +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2459048	NM_024080.5(TRPM8):c.65G>A (p.Arg22Gln)	TRPM8 (R22Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2457760	NM_024080.5(TRPM8):c.1316T>C (p.Leu439Pro)	TRPM8 (L44P +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2409904	NM_024080.5(TRPM8):c.1079G>A (p.Arg360His)	TRPM8 (R78H +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2389672	NM_024080.5(TRPM8):c.2194A>G (p.Thr732Ala)	TRPM8 (T682A +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2361635	NM_024080.5(TRPM8):c.2236A>G (p.Ile746Val)	TRPM8 (I746V +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2352071	NM_024080.5(TRPM8):c.1066G>C (p.Glu356Gln)	TRPM8 (E306Q +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2349407	NM_024080.5(TRPM8):c.1121C>T (p.Thr374Ile)	TRPM8 (T324I +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2348332	NM_024080.5(TRPM8):c.1006G>A (p.Ala336Thr)	TRPM8 (A336T +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2340396	NM_024080.5(TRPM8):c.1627C>T (p.Arg543Trp)	TRPM8 (R493W +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2323122	NM_024080.5(TRPM8):c.3073G>T (p.Val1025Leu)	TRPM8 (V1025L +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2322989	NM_024080.5(TRPM8):c.1271A>G (p.Asp424Gly)	TRPM8 (D424G +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2313575	NM_024080.5(TRPM8):c.482T>C (p.Met161Thr)	TRPM8 (M161T +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2311008	NM_024080.5(TRPM8):c.1615G>C (p.Asp539His)	TRPM8 (D539H +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2305478	NM_024080.5(TRPM8):c.2422T>C (p.Tyr808His)	TRPM8 (Y413H +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2302614	NM_024080.5(TRPM8):c.2371G>A (p.Val791Met)	TRPM8 (V396M +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2292735	NM_024080.5(TRPM8):c.2475G>T (p.Leu825Phe)	TRPM8 (L430F +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2275227	NM_024080.5(TRPM8):c.2368G>A (p.Gly790Arg)	TRPM8 (G740R +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2270935	NM_024080.5(TRPM8):c.14C>A (p.Ala5Glu)	TRPM8 (A5E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2260269	NM_024080.5(TRPM8):c.381A>C (p.Glu127Asp)	TRPM8 (E127D +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2256843	NM_024080.5(TRPM8):c.301G>A (p.Asp101Asn)	TRPM8 (D101N +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2208038	NM_024080.5(TRPM8):c.3296T>C (p.Ile1099Thr)	TRPM8 (I704T +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1807604	GRCh37/hg19 2q37.1-37.3(chr2:233642145-237654870)x1	ACKR3, AGAP1 +27 more	Copy number loss	not provided	GUncertain significance
Select item 1703651	GRCh37/hg19 2q37.1-37.3(chr2:233227837-242783384)	ACKR3, AGAP1 +94 more	Copy number loss	Chromosome 2q37 deletion syndrome	GPathogenic
Select item 1703543	GRCh37/hg19 2p25.3-q37.3(chr2:1-243199373)	ABCA12, ABCB11 +1216 more	Copy number gain	Mosaic trisomy 2	GPathogenic
Select item 1526964	GRCh37/hg19 2q37.1-37.2(chr2:234613080-236824976)	AGAP1, ARL4C +15 more	Copy number loss	not specified	GUncertain significance
Select item 1526963	GRCh37/hg19 2q37.1-37.2(chr2:234390282-236327203)	ARL4C, DNAJB3 +15 more	Copy number loss	not specified	GUncertain significance
Select item 1526962	GRCh37/hg19 2q37.1(chr2:232215111-235593473)	ALPG, ALPI +44 more	Copy number loss	not specified	GLikely pathogenic
Select item 1526959	GRCh37/hg19 2q36.3-37.1(chr2:228807574-235475892)	ALPG, ALPI +61 more	Copy number loss	not specified	GPathogenic
Select item 1526953	GRCh37/hg19 2q35-37.3(chr2:219606537-239217703)	FBXO36, UGT1A5 +147 more	Copy number loss	not specified	GPathogenic
Select item 1374168	NC_000002.11:g.(?_231033840)_(234978657_?)dup	SP140L, SPATA3 +54 more	Duplication	Perlman syndrome +1 more	GUncertain significance
Select item 1246736	NM_024080.5(TRPM8):c.740G>C (p.Arg247Thr)	TRPM8 (R247T)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 983184	GRCh37/hg19 2q31.2-37.3(chr2:178397959-243007457)x3	AAMP, ABCA12 +384 more	Copy number gain	See cases	GPathogenic
Select item 981208	GRCh37/hg19 2q37.1-37.3(chr2:233110452-243028452)x1	KCNJ13, NGEF +97 more	Copy number loss	Chromosome 2q37 deletion syndrome	GPathogenic
Select item 816585	GRCh37/hg19 2q37.1-37.3(chr2:234791927-242783384)x1	ACKR3, AGAP1 +63 more	Copy number loss	not provided	GPathogenic
Select item 816583	GRCh37/hg19 2q37.1-37.3(chr2:234090049-239494702)x1	RAB17, ASB1 +41 more	Copy number loss	not provided	GPathogenic
Select item 816582	GRCh37/hg19 2q36.3-37.3(chr2:230814690-242783384)x3	ACKR3, AGAP1 +119 more	Copy number gain	not provided	GPathogenic
Select item 791527	NM_024080.5(TRPM8):c.1385T>C (p.Met462Thr)	TRPM8 (M462T)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 787246	NM_024080.5(TRPM8):c.2462A>G (p.Asn821Ser)	TRPM8 (N821S)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 785996	NM_024080.5(TRPM8):c.2748C>A (p.Pro916=)	TRPM8	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 780873	NM_024080.5(TRPM8):c.1635G>A (p.Glu545=)	TRPM8	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 769595	NM_024080.5(TRPM8):c.678C>G (p.Leu226=)	TRPM8	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 767873	NM_024080.5(TRPM8):c.1362+10A>C	TRPM8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 762413	NM_024080.5(TRPM8):c.1350C>T (p.Asp450=)	TRPM8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 742947	NM_024080.5(TRPM8):c.1880-7G>A	TRPM8	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 727971	NM_024080.5(TRPM8):c.126G>T (p.Val42=)	TRPM8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 723767	NM_024080.5(TRPM8):c.12G>A (p.Arg4=)	TRPM8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 721898	NM_024080.5(TRPM8):c.1363-8C>T	TRPM8	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 716303	NM_024080.5(TRPM8):c.1230C>T (p.Tyr410=)	TRPM8	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 638100	GRCh37/hg19 2q34-37.3(chr2:210779657-239879183)x3	CTDSP1, NGEF +197 more	Copy number gain	See cases	GPathogenic
Select item 562681	GRCh37/hg19 2q35-37.3(chr2:219225872-242016876)x3	ABCB6, ACKR3 +183 more	Copy number gain	not provided	GPathogenic
Select item 562672	GRCh37/hg19 2q37.1-37.3(chr2:234716425-242783384)x3	ACKR3, AGAP1 +65 more	Copy number gain	not provided	GPathogenic
Select item 443370	GRCh37/hg19 2q37.1-37.3(chr2:234495262-242783384)x1	ACKR3, AGAP1 +74 more	Copy number loss	See cases	GPathogenic
Select item 442998	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)	RGPD4, RGPD5 +1214 more	Copy number gain	See cases	GPathogenic
Select item 442997	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3	IL1F10, IL1R1 +1214 more	Copy number gain	See cases	GPathogenic
Select item 442425	GRCh37/hg19 2q36.1-37.3(chr2:222077224-239394441)x3	UGT1A8, UGT1A9 +113 more	Copy number gain	See cases	GPathogenic
Select item 442002	GRCh37/hg19 2q34-37.3(chr2:213518431-242783384)x3	AAMP, ABCA12 +225 more	Copy number gain	See cases	GPathogenic
Select item 441700	GRCh37/hg19 2q37.1(chr2:234401465-235250353)x1	DNAJB3, HJURP +13 more	Copy number loss	See cases	GUncertain significance
Select item 395404	GRCh37/hg19 2q37.1-37.3(chr2:233784243-243040217)x1	ACKR3, AGAP1 +82 more	Copy number loss	See cases	GPathogenic
Select item 161051	GRCh38/hg38 2q37.1-37.3(chr2:231770279-242126245)x1	ACKR3, AGAP1 +455 more	Copy number loss	See cases	GPathogenic
Select item 155239	GRCh38/hg38 2q37.1(chr2:233890063-234101264)x1	LOC121009631, LOC122861317 +3 more	Copy number loss	See cases	GUncertain significance
Select item 155149	GRCh38/hg38 2q35-37.3(chr2:218101759-242126245)x3	LOC129935871, LOC129935872 +986 more	Copy number gain	See cases	GPathogenic
Select item 154206	GRCh38/hg38 2q32.2-37.3(chr2:189436149-241841232)x3	LOC129935343, LOC129935344 +1687 more	Copy number gain	See cases	GPathogenic
Select item 147843	GRCh38/hg38 2q36.3-37.2(chr2:228014149-234976424)x3	ALPG, ALPI +309 more	Copy number gain	See cases	GPathogenic

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