ClinVar for Gene (Select 5198) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3305876	NM_012393.3(PFAS):c.2770T>A (p.Phe924Ile)	PFAS (F924I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3305875	NM_012393.3(PFAS):c.1372A>G (p.Arg458Gly)	PFAS (R458G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3305874	NM_012393.3(PFAS):c.3109G>C (p.Glu1037Gln)	PFAS (E1037Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3305873	NM_012393.3(PFAS):c.1366G>A (p.Val456Ile)	PFAS (V456I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3305872	NM_012393.3(PFAS):c.3535G>A (p.Ala1179Thr)	PFAS (A1179T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3305871	NM_012393.3(PFAS):c.2017G>A (p.Ala673Thr)	PFAS (A673T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3305869	NM_012393.3(PFAS):c.1376T>C (p.Ile459Thr)	PFAS (I459T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3305868	NM_012393.3(PFAS):c.3773A>G (p.His1258Arg)	PFAS (H1258R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3305867	NM_012393.3(PFAS):c.3434G>A (p.Arg1145His)	PFAS (R1145H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3305866	NM_012393.3(PFAS):c.271G>A (p.Gly91Arg)	PFAS (G91R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3305865	NM_012393.3(PFAS):c.3772C>T (p.His1258Tyr)	PFAS (H1258Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3305864	NM_012393.3(PFAS):c.1166C>G (p.Ala389Gly)	PFAS (A389G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3305863	NM_012393.3(PFAS):c.2020G>A (p.Val674Met)	PFAS (V674M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3305862	NM_012393.3(PFAS):c.496A>G (p.Met166Val)	PFAS (M166V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3305861	NM_012393.3(PFAS):c.362C>A (p.Thr121Asn)	PFAS (T121N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3243205	NC_000017.10:g.(?_422368)_(8285628_?)dup	FBXO39, FGF11 +209 more	Duplication	not provided	GUncertain significance
Select item 3211547	NM_012393.3(PFAS):c.845G>A (p.Arg282Gln)	PFAS (R282Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3211546	NM_012393.3(PFAS):c.388G>T (p.Ala130Ser)	PFAS (A130S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3211545	NM_012393.3(PFAS):c.3824A>G (p.Asn1275Ser)	PFAS (N1275S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3211543	NM_012393.3(PFAS):c.353G>A (p.Arg118His)	PFAS (R118H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3211542	NM_012393.3(PFAS):c.3530A>T (p.Asp1177Val)	PFAS (D1177V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3211541	NM_012393.3(PFAS):c.3311G>T (p.Gly1104Val)	PFAS (G1104V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3211540	NM_012393.3(PFAS):c.3254T>C (p.Leu1085Ser)	PFAS (L1085S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3211539	NM_012393.3(PFAS):c.3196G>A (p.Ala1066Thr)	PFAS (A1066T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3211538	NM_012393.3(PFAS):c.23A>G (p.Tyr8Cys)	PFAS (Y8C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3211537	NM_012393.3(PFAS):c.2206C>G (p.Pro736Ala)	PFAS (P736A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3211536	NM_012393.3(PFAS):c.215A>G (p.Asp72Gly)	PFAS (D72G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3211535	NM_012393.3(PFAS):c.1714C>T (p.Arg572Trp)	PFAS (R572W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3211534	NM_012393.3(PFAS):c.1666G>C (p.Gly556Arg)	PFAS (G556R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3211533	NM_012393.3(PFAS):c.1513G>A (p.Ala505Thr)	PFAS (A505T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3211532	NM_012393.3(PFAS):c.1126G>T (p.Ala376Ser)	PFAS (A376S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3211531	NM_012393.3(PFAS):c.10G>A (p.Val4Ile)	PFAS (V4I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063486	GRCh37/hg19 17p13.3-11.2(chr17:525-21510992)x3	ABR, ACADVL +329 more	Copy number gain	not specified	GPathogenic
Select item 2971255	NM_025099.6(CTC1):c.33+9T>C	CTC1, PFAS	Single nucleotide variant (intron variant)	Dyskeratosis congenita	GLikely benign
Select item 2891232	NM_025099.6(CTC1):c.12C>T (p.Gly4=)	CTC1, PFAS	Single nucleotide variant (synonymous variant +1 more)	Dyskeratosis congenita	GLikely benign
Select item 2884157	NM_025099.6(CTC1):c.1A>T (p.Met1Leu)	CTC1, PFAS (M1L)	Single nucleotide variant (missense variant +2 more)	Dyskeratosis congenita	GPathogenic
Select item 2841328	NM_025099.6(CTC1):c.33+7G>A	CTC1, PFAS	Single nucleotide variant (intron variant)	Dyskeratosis congenita	GLikely benign
Select item 2738911	NM_025099.6(CTC1):c.27T>A (p.Pro9=)	CTC1, PFAS	Single nucleotide variant (synonymous variant +1 more)	Dyskeratosis congenita	GLikely benign
Select item 2723180	NM_025099.6(CTC1):c.33+15T>A	CTC1, LOC130060237 +1 more	Single nucleotide variant (intron variant)	Dyskeratosis congenita	GLikely benign
Select item 2671586	Single allele	TMEM88, TRG-GCC2-6 +31 more	Duplication	not provided	GUncertain significance
Select item 2616931	NM_012393.3(PFAS):c.805T>G (p.Phe269Val)	PFAS (F269V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2601195	NM_012393.3(PFAS):c.3748G>A (p.Glu1250Lys)	PFAS (E1250K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2594619	NM_012393.3(PFAS):c.3565C>T (p.Arg1189Trp)	PFAS (R1189W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2589137	NM_012393.3(PFAS):c.3206G>A (p.Arg1069Gln)	PFAS (R1069Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2579287	GRCh38/hg38 17p13.3-12(chr17:165730-11404096)x3	SAT2, SCARF1 +911 more	Copy number gain	Chromosome 17p13.3 duplication syndrome	GPathogenic
Select item 2568806	NM_012393.3(PFAS):c.2668C>T (p.Arg890Trp)	PFAS (R890W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2545965	NM_012393.3(PFAS):c.3986C>G (p.Ala1329Gly)	PFAS (A1329G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2543231	NM_012393.3(PFAS):c.661G>A (p.Asp221Asn)	PFAS (D221N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2542170	NM_012393.3(PFAS):c.29G>A (p.Arg10His)	PFAS (R10H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2529754	NM_012393.3(PFAS):c.292A>T (p.Thr98Ser)	PFAS (T98S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2527360	NM_012393.3(PFAS):c.1384G>A (p.Gly462Arg)	PFAS (G462R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2523240	NM_012393.3(PFAS):c.2480C>T (p.Ala827Val)	PFAS (A827V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2521947	NM_012393.3(PFAS):c.2263C>G (p.Leu755Val)	PFAS (L755V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2520962	NM_012393.3(PFAS):c.3167G>A (p.Arg1056His)	PFAS (R1056H)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2495106	NM_012393.3(PFAS):c.3676G>A (p.Val1226Met)	PFAS (V1226M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2493027	NM_012393.3(PFAS):c.1901G>C (p.Gly634Ala)	PFAS (G634A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2484583	NM_012393.3(PFAS):c.1430G>A (p.Ser477Asn)	PFAS (S477N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2478674	NM_025099.6(CTC1):c.22G>A (p.Val8Ile)	CTC1, PFAS (V8I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2478079	NM_012393.3(PFAS):c.3436T>G (p.Phe1146Val)	PFAS (F1146V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2474818	NM_012393.3(PFAS):c.106G>A (p.Val36Ile)	PFAS (V36I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2467570	NM_012393.3(PFAS):c.3072G>C (p.Glu1024Asp)	PFAS (E1024D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2465799	NM_012393.3(PFAS):c.1849C>T (p.Pro617Ser)	PFAS (P617S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2464605	NM_012393.3(PFAS):c.2375T>C (p.Met792Thr)	PFAS (M792T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2462246	NM_012393.3(PFAS):c.3877G>T (p.Ala1293Ser)	PFAS (A1293S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2458740	NM_012393.3(PFAS):c.1622G>A (p.Arg541His)	PFAS (R541H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2423280	NC_000017.10:g.(?_7571752)_(8285628_?)del	ALOX12B, ALOX15B +33 more	Deletion	Li-Fraumeni syndrome	GPathogenic
Select item 2422139	NC_000017.10:g.(?_7123304)_(8193254_?)del	ACADVL, ACAP1 +69 more	Deletion	Very long chain acyl-CoA dehydrogenase deficiency	GPathogenic
Select item 2413833	NM_025099.6(CTC1):c.33+6T>C	CTC1, PFAS	Single nucleotide variant (intron variant)	Dyskeratosis congenita	GUncertain significance
Select item 2411226	NM_012393.3(PFAS):c.1715G>T (p.Arg572Leu)	PFAS (R572L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2410913	NM_012393.3(PFAS):c.3016G>A (p.Glu1006Lys)	PFAS (E1006K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2399368	NM_012393.3(PFAS):c.988C>T (p.Arg330Trp)	PFAS (R330W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2397144	NM_012393.3(PFAS):c.443G>A (p.Arg148Gln)	PFAS (R148Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2396012	NM_012393.3(PFAS):c.524A>G (p.Asn175Ser)	PFAS (N175S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2393962	NM_012393.3(PFAS):c.3524A>G (p.Asn1175Ser)	PFAS (N1175S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2389592	NM_012393.3(PFAS):c.668C>T (p.Ala223Val)	PFAS (A223V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2375298	NM_012393.3(PFAS):c.1147A>G (p.Ile383Val)	PFAS (I383V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2374952	NM_012393.3(PFAS):c.1663T>G (p.Trp555Gly)	PFAS (W555G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2367979	NM_012393.3(PFAS):c.109G>A (p.Glu37Lys)	PFAS (E37K)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2360763	NM_012393.3(PFAS):c.379C>T (p.Leu127Phe)	PFAS (L127F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2359359	NM_012393.3(PFAS):c.1148T>C (p.Ile383Thr)	PFAS (I383T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2350261	NM_012393.3(PFAS):c.2345C>T (p.Ala782Val)	PFAS (A782V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2342875	NM_012393.3(PFAS):c.3097C>T (p.Arg1033Trp)	PFAS (R1033W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2330457	NM_012393.3(PFAS):c.1298T>C (p.Met433Thr)	PFAS (M433T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2317322	NM_012393.3(PFAS):c.28C>T (p.Arg10Cys)	PFAS (R10C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2314931	NM_012393.3(PFAS):c.791A>G (p.Asn264Ser)	PFAS (N264S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2304560	NM_012393.3(PFAS):c.2362A>G (p.Met788Val)	PFAS (M788V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2304397	NM_012393.3(PFAS):c.3988C>G (p.Arg1330Gly)	PFAS (R1330G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2295825	NM_012393.3(PFAS):c.1670C>T (p.Ala557Val)	PFAS (A557V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2291603	NM_012393.3(PFAS):c.3323T>G (p.Phe1108Cys)	PFAS (F1108C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2283361	NM_012393.3(PFAS):c.2473A>G (p.Ile825Val)	PFAS (I825V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2247066	NM_012393.3(PFAS):c.2028C>G (p.Ser676Arg)	PFAS (S676R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2246449	NM_012393.3(PFAS):c.2704C>T (p.Arg902Cys)	PFAS (R902C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2241292	NM_012393.3(PFAS):c.1157G>A (p.Ser386Asn)	PFAS (S386N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2239855	NM_012393.3(PFAS):c.2156T>G (p.Ile719Arg)	PFAS (I719R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2233485	NM_012393.3(PFAS):c.1525A>G (p.Asn509Asp)	PFAS (N509D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2231238	NM_012393.3(PFAS):c.1853C>T (p.Pro618Leu)	PFAS (P618L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2226252	NM_012393.3(PFAS):c.3583C>T (p.Arg1195Cys)	PFAS (R1195C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2217931	NM_012393.3(PFAS):c.1328C>T (p.Pro443Leu)	PFAS (P443L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2215978	NM_012393.3(PFAS):c.1159A>G (p.Asn387Asp)	PFAS (N387D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2213600	NM_012393.3(PFAS):c.2962G>A (p.Ala988Thr)	PFAS (A988T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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