PFAS[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154089	GRCh38/hg38 17p13.3-12(chr17:150732-14764202)x3	ABR, ABR-AS1 +962 more	Copy number gain	See cases	GPathogenic
Select item 149531	GRCh38/hg38 17p13.3-12(chr17:162016-12343901)x3	LOC130059883, LOC130059884 +922 more	Copy number gain	See cases	GPathogenic
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 145484	GRCh38/hg38 17p13.2-12(chr17:5732953-12095349)x3	ACADVL, ACAP1 +461 more	Copy number gain	See cases	GPathogenic
Select item 59583	GRCh38/hg38 17p13.1(chr17:7478195-8435524)x1	ALOX12B, ALOX15B +191 more	Copy number loss	See cases	GPathogenic
Select item 649065	NC_000017.11:g.(?_7669599)_(8382320_?)del	LOC130060207, LOC130060208 +141 more	Deletion	Li-Fraumeni syndrome	GPathogenic
Select item 463365	NC_000017.11:g.(?_7669603)_(8382316_?)del	LOC130060232, LOC130060233 +141 more	Deletion	Li-Fraumeni syndrome +2 more	GPathogenic
Select item 152524	GRCh38/hg38 17p13.1(chr17:7967712-8490279)x3	ALOX12B, ALOX15B +110 more	Copy number gain	See cases	GUncertain significance
Select item 1271918	NM_025099.6(CTC1):c.33+159T>G	CTC1, PFAS	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1227785	NM_025099.6(CTC1):c.33+144C>T	CTC1, LOC130060237 +1 more	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2096705	NM_025099.6(CTC1):c.33+17C>A	CTC1, LOC130060237 +1 more	Single nucleotide variant (intron variant)	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 2146687	NM_025099.6(CTC1):c.33+13A>G	CTC1, LOC130060237 +1 more	Single nucleotide variant (intron variant)	Dyskeratosis congenita	GLikely benign
Select item 2971255	NM_025099.6(CTC1):c.33+9T>C	CTC1, PFAS	Single nucleotide variant (intron variant)	Dyskeratosis congenita	GLikely benign
Select item 1123223	NM_025099.6(CTC1):c.33+9T>G	CTC1, PFAS	Single nucleotide variant (intron variant)	Dyskeratosis congenita	GLikely benign
Select item 2841328	NM_025099.6(CTC1):c.33+7G>A	CTC1, PFAS	Single nucleotide variant (intron variant)	Dyskeratosis congenita	GLikely benign
Select item 1588202	NM_025099.6(CTC1):c.33+7G>T	CTC1, PFAS	Single nucleotide variant (intron variant)	Dyskeratosis congenita	GLikely benign
Select item 2413833	NM_025099.6(CTC1):c.33+6T>C	CTC1, PFAS	Single nucleotide variant (intron variant)	Dyskeratosis congenita	GUncertain significance
Select item 955721	NM_025099.6(CTC1):c.33+4A>G	CTC1, PFAS	Single nucleotide variant (intron variant)	Dyskeratosis congenita	GUncertain significance
Select item 1505656	NM_025099.6(CTC1):c.33+2T>G	CTC1, PFAS	Single nucleotide variant (splice donor variant)	Dyskeratosis congenita	GLikely pathogenic
Select item 326090	NM_025099.6(CTC1):c.33C>T (p.Ser11=)	CTC1, PFAS	Single nucleotide variant (synonymous variant +1 more)	Dyskeratosis congenita +1 more	GUncertain significance
Select item 1041890	NM_025099.6(CTC1):c.32C>A (p.Ser11Tyr)	PFAS, CTC1 (S11Y)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita	GUncertain significance
Select item 700329	NM_025099.6(CTC1):c.30C>T (p.Ser10=)	CTC1, PFAS	Single nucleotide variant (synonymous variant +1 more)	Dyskeratosis congenita	GLikely benign
Select item 1022405	NM_025099.6(CTC1):c.29C>T (p.Ser10Phe)	CTC1, PFAS (S10F)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita	GUncertain significance
Select item 942924	NM_025099.6(CTC1):c.29C>G (p.Ser10Cys)	CTC1, PFAS (S10C)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita	GUncertain significance
Select item 1012044	NM_025099.6(CTC1):c.28T>A (p.Ser10Thr)	CTC1, PFAS (S10T)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita	GUncertain significance
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 1665687	NM_025099.6(CTC1):c.27T>C (p.Pro9=)	CTC1, PFAS	Single nucleotide variant (synonymous variant +1 more)	Dyskeratosis congenita	GLikely benign
Select item 1409462	NM_025099.6(CTC1):c.26C>G (p.Pro9Arg)	CTC1, PFAS (P9R)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita	GUncertain significance
Select item 1379945	NM_025099.6(CTC1):c.26C>A (p.Pro9His)	CTC1, PFAS (P9H)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita	GUncertain significance
Select item 855509	NM_025099.6(CTC1):c.26C>T (p.Pro9Leu)	CTC1, PFAS (P9L)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita	GUncertain significance
Select item 581122	NM_025099.6(CTC1):c.25C>T (p.Pro9Ser)	CTC1, PFAS (P9S)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita	GUncertain significance
Select item 701853	NM_025099.6(CTC1):c.24C>T (p.Val8=)	CTC1, PFAS	Single nucleotide variant (synonymous variant +1 more)	Dyskeratosis congenita	GLikely benign
Select item 698540	NM_025099.6(CTC1):c.24C>A (p.Val8=)	CTC1, PFAS	Single nucleotide variant (synonymous variant +1 more)	Dyskeratosis congenita +2 more	GConflicting classifications of pathogenicity
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 845192	NM_025099.6(CTC1):c.22G>C (p.Val8Leu)	CTC1, PFAS (V8L)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita	GUncertain significance
Select item 575990	NM_025099.6(CTC1):c.21G>C (p.Gln7His)	CTC1, PFAS (Q7H)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita	GUncertain significance
Select item 943454	NM_025099.6(CTC1):c.19C>T (p.Gln7Ter)	CTC1, PFAS (Q7*)	Single nucleotide variant (nonsense +1 more)	Dyskeratosis congenita +1 more	GPathogenic
Select item 1155574	NM_025099.6(CTC1):c.18C>G (p.Ala6=)	CTC1, PFAS	Single nucleotide variant (synonymous variant +1 more)	Dyskeratosis congenita	GLikely benign
Select item 952575	NM_025099.6(CTC1):c.17C>T (p.Ala6Val)	CTC1, PFAS (A6V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2149900	NM_025099.6(CTC1):c.16G>T (p.Ala6Ser)	CTC1, PFAS (A6S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2058517	NM_025099.6(CTC1):c.16G>A (p.Ala6Thr)	CTC1, PFAS (A6T)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita	GUncertain significance
Select item 1124927	NM_025099.6(CTC1):c.15G>C (p.Arg5=)	CTC1, PFAS	Single nucleotide variant (synonymous variant +1 more)	Dyskeratosis congenita	GLikely benign
Select item 1372467	NM_025099.6(CTC1):c.14G>A (p.Arg5Gln)	CTC1, PFAS (R5Q)	Single nucleotide variant (missense variant +1 more)	Cerebroretinal microangiopathy with calcifications and cysts 1 +1 more	GUncertain significance
Select item 434853	NM_025099.6(CTC1):c.13C>T (p.Arg5Trp)	CTC1, PFAS (R5W)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 326091	NM_025099.6(CTC1):c.13C>G (p.Arg5Gly)	CTC1, PFAS (R5G)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita +1 more	GUncertain significance
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 1123892	NM_025099.6(CTC1):c.12C>G (p.Gly4=)	CTC1, PFAS	Single nucleotide variant (synonymous variant +1 more)	Dyskeratosis congenita	GLikely benign
Select item 661168	NM_025099.6(CTC1):c.8C>G (p.Ala3Gly)	CTC1, PFAS (A3G)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita	GUncertain significance
Select item 581397	NM_025099.6(CTC1):c.8C>T (p.Ala3Val)	CTC1, PFAS (A3V)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 2156757	NM_025099.6(CTC1):c.7G>T (p.Ala3Ser)	PFAS, CTC1 (A3S)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita	GUncertain significance
Select item 1026305	NM_025099.6(CTC1):c.6G>A (p.Ala2=)	CTC1, PFAS	Single nucleotide variant (synonymous variant +1 more)	Dyskeratosis congenita	GLikely benign
Select item 1353180	NM_025099.6(CTC1):c.5C>A (p.Ala2Glu)	CTC1, PFAS (A2E)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita	GUncertain significance
Select item 1342131	NM_025099.6(CTC1):c.2T>C (p.Met1Thr)	PFAS, CTC1 (M1T)	Single nucleotide variant (missense variant +2 more)	Dyskeratosis congenita +1 more	GPathogenic
Select item 1324185	NM_025099.6(CTC1):c.2T>A (p.Met1Lys)	CTC1, PFAS (M1K)	Single nucleotide variant (missense variant +2 more)	Dyskeratosis congenita +1 more	GPathogenic/Likely pathogenic
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 2202444	NM_025099.6(CTC1):c.1A>G (p.Met1Val)	CTC1, PFAS (M1V)	Single nucleotide variant (missense variant +2 more)	Dyskeratosis congenita	GPathogenic
Select item 1066973	NM_025099.6(CTC1):c.1A>C (p.Met1Leu)	PFAS, CTC1 (M1L)	Single nucleotide variant (missense variant +2 more)	Cerebroretinal microangiopathy with calcifications and cysts 1 +1 more	GPathogenic/Likely pathogenic
Select item 326092	NM_025099.6(CTC1):c.-10C>T	CTC1, PFAS	Single nucleotide variant (5 prime UTR variant +1 more)	Dyskeratosis congenita +1 more	GUncertain significance
Select item 1212110	NC_000017.11:g.8248066del	CTC1, PFAS	Deletion (genic upstream transcript variant)	not provided	GLikely benign
Select item 326093	NM_025099.5(CTC1):c.-59C>G	CTC1, LOC130060238 +1 more	Single nucleotide variant (genic upstream transcript variant)	Dyskeratosis Congenita, Recessive	GUncertain significance
Select item 369245	NM_025099.5(CTC1):c.-62dupC	CTC1, LOC130060238 +1 more	Duplication	not provided +1 more	GBenign/Likely benign
Select item 369246	NM_025099.6(CTC1):c.-69G>A	CTC1, LOC130060238 +1 more	Single nucleotide variant	not provided +2 more	GBenign
Select item 1257181	NC_000017.11:g.8248158C>T	CTC1, PFAS	Single nucleotide variant	not provided	GBenign
Select item 1217079	NC_000017.11:g.8248352G>T	CTC1, PFAS	Single nucleotide variant	not provided	GLikely benign
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 3211538	NM_012393.3(PFAS):c.23A>G (p.Tyr8Cys)	PFAS (Y8C)	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 2542170	NM_012393.3(PFAS):c.29G>A (p.Arg10His)	PFAS (R10H)	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 2367979	NM_012393.3(PFAS):c.109G>A (p.Glu37Lys)	PFAS (E37K)	Single nucleotide variant (missense variant)	not specified	GLikely benign
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 3305866	NM_012393.3(PFAS):c.271G>A (p.Gly91Arg)	PFAS (G91R)	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 3211543	NM_012393.3(PFAS):c.353G>A (p.Arg118His)	PFAS (R118H)	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 2360763	NM_012393.3(PFAS):c.379C>T (p.Leu127Phe)	PFAS (L127F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2397144	NM_012393.3(PFAS):c.443G>A (p.Arg148Gln)	PFAS (R148Q)	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 2396012	NM_012393.3(PFAS):c.524A>G (p.Asn175Ser)	PFAS (N175S)	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 2389592	NM_012393.3(PFAS):c.668C>T (p.Ala223Val)	PFAS (A223V)	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 2616931	NM_012393.3(PFAS):c.805T>G (p.Phe269Val)	PFAS (F269V)	Single nucleotide variant (missense variant)	not specified	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 2399368	NM_012393.3(PFAS):c.988C>T (p.Arg330Trp)	PFAS (R330W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 777128	NM_012393.3(PFAS):c.1076-8C>G	PFAS	Single nucleotide variant (intron variant)	not provided	GBenign
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 2375298	NM_012393.3(PFAS):c.1147A>G (p.Ile383Val)	PFAS (I383V)	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 2241292	NM_012393.3(PFAS):c.1157G>A (p.Ser386Asn)	PFAS (S386N)	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 3305864	NM_012393.3(PFAS):c.1166C>G (p.Ala389Gly)	PFAS (A389G)	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 777714	NM_012393.3(PFAS):c.1300G>A (p.Glu434Lys)	PFAS (E434K)	Single nucleotide variant (missense variant)	not provided	GBenign
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 3305873	NM_012393.3(PFAS):c.1366G>A (p.Val456Ile)	PFAS (V456I)	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 3305869	NM_012393.3(PFAS):c.1376T>C (p.Ile459Thr)	PFAS (I459T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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