5889[geneid] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 1 to 100 of 2066

<< First< Prev

Page of 21

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 148363	GRCh38/hg38 17q23.1-25.1(chr17:36449220-75053130)x3	AARSD1, AATF +2032 more	Copy number gain	See cases	GPathogenic
Select item 57282	GRCh38/hg38 17q21.33-24.2(chr17:36449220-68170214)x3	LOC126862582, LOC126862583 +1753 more	Copy number gain	See cases	GPathogenic
Select item 151500	GRCh38/hg38 17q22-23.1(chr17:57418806-59735464)x1	C17orf47, CCDC182 +168 more	Copy number loss	See cases	GPathogenic
Select item 1217059	NC_000017.11:g.58692375C>T	LOC130061309, RAD51C	Single nucleotide variant (genic upstream transcript variant)	not provided	GLikely benign
Select item 1250767	NC_000017.11:g.58692526G>A	RAD51C	Single nucleotide variant (genic upstream transcript variant)	not provided	GBenign
Select item 803439	NC_000017.11:g.58692541G>A	RAD51C	Single nucleotide variant (genic upstream transcript variant)	Fanconi anemia complementation group O	GLikely benign
Select item 386066	NM_058216.2(RAD51C):c.-49C>G	RAD51C	Single nucleotide variant (non-coding transcript variant)	not specified	GLikely benign
Select item 379465	NM_058216.2(RAD51C):c.-48G>T	RAD51C	Single nucleotide variant (non-coding transcript variant)	not specified	GBenign
Select item 1292622	NM_058216.3(RAD51C):c.-41T>C	RAD51C	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 378456	NM_058216.3(RAD51C):c.-41T>A	RAD51C	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GLikely benign
Select item 378457	NM_058216.3(RAD51C):c.-39C>G	RAD51C	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GLikely benign
Select item 384535	NM_058216.3(RAD51C):c.-36A>G	RAD51C	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GLikely benign
Select item 422269	NM_058216.3(RAD51C):c.-35del	RAD51C	Deletion (5 prime UTR variant +1 more)	not specified	GLikely benign
Select item 379144	NM_058216.3(RAD51C):c.-29C>T	RAD51C	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GLikely benign
Select item 385254	NM_058216.3(RAD51C):c.-28T>G	RAD51C	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GLikely benign
Select item 324173	NM_058216.3(RAD51C):c.-26C>T	RAD51C	Single nucleotide variant (5 prime UTR variant +1 more)	Fanconi anemia +2 more	GBenign/Likely benign
Select item 511163	NM_058216.3(RAD51C):c.-24C>T	RAD51C	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GLikely benign
Select item 387037	NM_058216.3(RAD51C):c.-24C>G	RAD51C	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GLikely benign
Select item 386941	NM_058216.3(RAD51C):c.-24C>A	RAD51C	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GLikely benign
Select item 388066	NM_058216.3(RAD51C):c.-22G>C	RAD51C	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GLikely benign
Select item 927063	NM_058216.3(RAD51C):c.-20G>C	RAD51C	Single nucleotide variant (5 prime UTR variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 629705	NM_058216.3(RAD51C):c.-20G>T	RAD51C	Single nucleotide variant (5 prime UTR variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 492357	NM_058216.3(RAD51C):c.-20G>A	RAD51C	Single nucleotide variant (5 prime UTR variant +1 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 492355	NM_058216.3(RAD51C):c.-19G>T	RAD51C	Single nucleotide variant (5 prime UTR variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 378458	NM_058216.3(RAD51C):c.-19G>A	RAD51C	Single nucleotide variant (5 prime UTR variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GConflicting classifications of pathogenicity
Select item 926046	NM_058216.3(RAD51C):c.-18T>C	RAD51C	Single nucleotide variant (5 prime UTR variant +1 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 492354	NM_058216.3(RAD51C):c.-18T>G	RAD51C	Single nucleotide variant (5 prime UTR variant +1 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 492353	NM_058216.3(RAD51C):c.-15G>T	RAD51C	Single nucleotide variant (5 prime UTR variant +1 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 1098890	NM_058216.3(RAD51C):c.-13_14del (p.Met1_Thr5del)	RAD51C	Deletion (inframe_deletion +2 more)	Breast-ovarian cancer, familial, susceptibility to, 3	GPathogenic
Select item 492352	NM_058216.3(RAD51C):c.-13A>G	RAD51C	Single nucleotide variant (5 prime UTR variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GBenign/Likely benign
Select item 1332076	NM_058216.3(RAD51C):c.-12G>C	RAD51C	Single nucleotide variant (5 prime UTR variant +1 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 631415	NM_058216.3(RAD51C):c.-11G>A	RAD51C	Single nucleotide variant (5 prime UTR variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 2774187	NM_058216.3(RAD51C):c.-10T>G	RAD51C	Single nucleotide variant (5 prime UTR variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 656297	NC_000017.10:g.(?_56769995)_(56801471_?)dup	LOC129390903, LOC130061310 +2 more	Duplication	Fanconi anemia complementation group O	GUncertain significance
Select item 651825	NC_000017.11:g.(?_58692634)_(58710000_?)del	LOC129390903, LOC130061310 +2 more	Deletion	Fanconi anemia complementation group O	GPathogenic
Select item 649637	NC_000017.10:g.(?_56769995)_(56811593_?)dup	LOC129390903, LOC130061310 +2 more	Duplication	Fanconi anemia complementation group O	GUncertain significance
Select item 646951	NC_000017.11:g.(?_58692634)_(58692798_?)del	LOC130061310, RAD51C	Deletion	Fanconi anemia complementation group O	GPathogenic
Select item 378459	NM_058216.3(RAD51C):c.-8A>G	RAD51C	Single nucleotide variant (5 prime UTR variant +1 more)	not specified +2 more	GLikely benign
Select item 927405	NM_058216.3(RAD51C):c.-7G>T	RAD51C	Single nucleotide variant (5 prime UTR variant +1 more)	not specified +1 more	GUncertain significance
Select item 619724	NM_058216.3(RAD51C):c.-7G>C	RAD51C	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 382213	NM_058216.3(RAD51C):c.-7G>A	RAD51C	Single nucleotide variant (5 prime UTR variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 538799	NC_000017.10:g.(?_56769999)_(56801467_?)dup	LOC130061310, LOC129390903 +2 more	Duplication	Fanconi anemia complementation group O	GUncertain significance
Select item 492359	NM_058216.3(RAD51C):c.-6C>T	RAD51C	Single nucleotide variant (5 prime UTR variant +1 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 471421	NC_000017.11:g.(?_58692638)_(58734228_?)del	LOC129390903, LOC130061310 +2 more	Deletion	Fanconi anemia complementation group O	GPathogenic
Select item 471419	NC_000017.10:g.(?_56769999)_(56774226_?)dup	LOC130061310, RAD51C	Duplication	Fanconi anemia complementation group O	GUncertain significance
Select item 2774188	NM_058216.3(RAD51C):c.-5C>G	RAD51C	Single nucleotide variant (non-coding transcript variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 230283	NM_058216.3(RAD51C):c.-5C>T	RAD51C	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GUncertain significance
Select item 492358	NM_058216.3(RAD51C):c.-4T>A	RAD51C	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1736910	NM_058216.3(RAD51C):c.-3G>C	RAD51C	Single nucleotide variant (5 prime UTR variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 824488	NM_058216.3(RAD51C):c.-3G>T	RAD51C	Single nucleotide variant (5 prime UTR variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 219548	NM_058216.3(RAD51C):c.-3G>A	RAD51C	Single nucleotide variant (5 prime UTR variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 929788	NM_058216.3(RAD51C):c.-2C>G	RAD51C	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 230827	NM_058216.3(RAD51C):c.-2C>T	RAD51C	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +2 more	GUncertain significance
Select item 923945	NM_058216.3(RAD51C):c.-1G>T	RAD51C	Single nucleotide variant (5 prime UTR variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 492356	NM_058216.3(RAD51C):c.-1G>A	RAD51C	Single nucleotide variant (5 prime UTR variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 219702	NM_058216.1(RAD51C):c.(?_-1)_837+?del	LOC129390903, LOC130061310 +2 more	Deletion	Fanconi anemia complementation group O	GPathogenic
Select item 820482	NM_058216.3(RAD51C):c.1A>T (p.Met1Leu)	RAD51C (M1L)	Single nucleotide variant (missense variant +2 more)	Fanconi anemia complementation group O +1 more	GUncertain significance
Select item 820479	NM_058216.3(RAD51C):c.1A>G (p.Met1Val)	RAD51C (M1V)	Single nucleotide variant (missense variant +2 more)	Fanconi anemia complementation group O +1 more	GUncertain significance
Select item 1798672	NM_058216.3(RAD51C):c.2T>C (p.Met1Thr)	RAD51C (M1T)	Single nucleotide variant (missense variant +2 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 956146	NM_058216.3(RAD51C):c.3G>C (p.Met1Ile)	RAD51C (M1I)	Single nucleotide variant (missense variant +2 more)	Hereditary breast ovarian cancer syndrome +1 more	GUncertain significance
Select item 230796	NM_058216.3(RAD51C):c.3G>A (p.Met1Ile)	RAD51C (M1I)	Single nucleotide variant (missense variant +2 more)	Fanconi anemia complementation group O +2 more	GUncertain significance
Select item 216798	NM_058216.3(RAD51C):c.3G>T (p.Met1Ile)	RAD51C (M1I)	Single nucleotide variant (missense variant +2 more)	Breast-ovarian cancer, familial, susceptibility to, 3 +3 more	GUncertain significance
Select item 1692063	NM_058216.3(RAD51C):c.4C>T (p.Arg2Cys)	RAD51C (R2C)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 548876	NM_058216.3(RAD51C):c.4C>G (p.Arg2Gly)	RAD51C (R2G)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 1692064	NM_058216.3(RAD51C):c.5G>A (p.Arg2His)	RAD51C (R2H)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GConflicting classifications of pathogenicity
Select item 765405	NM_058216.3(RAD51C):c.6C>G (p.Arg2=)	RAD51C	Single nucleotide variant (synonymous variant +1 more)	Fanconi anemia complementation group O +1 more	GLikely benign
Select item 763787	NM_058216.3(RAD51C):c.6C>T (p.Arg2=)	RAD51C	Single nucleotide variant (synonymous variant +1 more)	Fanconi anemia complementation group O +1 more	GLikely benign
Select item 926172	NM_058216.3(RAD51C):c.7G>C (p.Gly3Arg)	RAD51C (G3R)	Single nucleotide variant (missense variant +1 more)	Fanconi anemia complementation group O +1 more	GUncertain significance
Select item 849267	NM_058216.3(RAD51C):c.7G>T (p.Gly3Trp)	RAD51C (G3W)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 184411	NM_058216.3(RAD51C):c.7G>A (p.Gly3Arg)	RAD51C (G3R)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 660651	NM_058216.3(RAD51C):c.8G>A (p.Gly3Glu)	RAD51C (G3E)	Single nucleotide variant (missense variant +1 more)	Fanconi anemia complementation group O +1 more	GConflicting classifications of pathogenicity
Select item 478614	NM_058216.3(RAD51C):c.8G>C (p.Gly3Ala)	RAD51C (G3A)	Single nucleotide variant (missense variant +1 more)	Fanconi anemia complementation group O	GUncertain significance
Select item 1664751	NM_058216.3(RAD51C):c.9G>A (p.Gly3=)	RAD51C	Single nucleotide variant (synonymous variant +1 more)	Fanconi anemia complementation group O	GLikely benign
Select item 842010	NM_058216.3(RAD51C):c.9G>T (p.Gly3=)	RAD51C	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GLikely benign
Select item 186623	NM_058216.3(RAD51C):c.9G>C (p.Gly3=)	RAD51C	Single nucleotide variant (synonymous variant +1 more)	Hereditary breast ovarian cancer syndrome +3 more	GLikely benign
Select item 1791905	NM_058216.3(RAD51C):c.10A>G (p.Lys4Glu)	RAD51C (K4E)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GConflicting classifications of pathogenicity
Select item 1791888	NM_058216.3(RAD51C):c.10A>C (p.Lys4Gln)	RAD51C (K4Q)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GConflicting classifications of pathogenicity
Select item 1372954	NM_058216.3(RAD51C):c.11A>G (p.Lys4Arg)	RAD51C (K4R)	Single nucleotide variant (missense variant +1 more)	Fanconi anemia complementation group O	GUncertain significance
Select item 2003741	NM_058216.3(RAD51C):c.12G>C (p.Lys4Asn)	RAD51C (K4N)	Single nucleotide variant (missense variant +1 more)	Fanconi anemia complementation group O	GUncertain significance
Select item 417815	NM_058216.3(RAD51C):c.12G>A (p.Lys4=)	RAD51C	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 1716841	NM_058216.3(RAD51C):c.13A>G (p.Thr5Ala)	RAD51C (T5A)	Single nucleotide variant (missense variant +1 more)	Fanconi anemia complementation group O	GUncertain significance
Select item 1098884	NM_058216.3(RAD51C):c.13A>T (p.Thr5Ser)	RAD51C (T5S)	Single nucleotide variant (missense variant +1 more)	Breast-ovarian cancer, familial, susceptibility to, 3 +2 more	GConflicting classifications of pathogenicity
Select item 484753	NM_058216.3(RAD51C):c.14C>G (p.Thr5Arg)	RAD51C (T5R)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 128203	NM_058216.3(RAD51C):c.14C>T (p.Thr5Met)	RAD51C (T5M)	Single nucleotide variant (missense variant +1 more)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 1776147	NM_058216.3(RAD51C):c.15G>A (p.Thr5=)	RAD51C	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GLikely benign
Select item 1567834	NM_058216.3(RAD51C):c.15G>T (p.Thr5=)	RAD51C	Single nucleotide variant (synonymous variant +1 more)	Fanconi anemia complementation group O	GLikely benign
Select item 803440	NM_058216.3(RAD51C):c.16T>G (p.Phe6Val)	RAD51C (F6V)	Single nucleotide variant (missense variant +1 more)	Fanconi anemia complementation group O	GUncertain significance
Select item 3228948	NM_058216.3(RAD51C):c.17_19del (p.Phe6_Arg7delinsCys)	RAD51C	Deletion (inframe_indel +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1347953	NM_058216.3(RAD51C):c.17T>G (p.Phe6Cys)	RAD51C (F6C)	Single nucleotide variant (missense variant +1 more)	Fanconi anemia complementation group O	GUncertain significance
Select item 409849	NM_058216.3(RAD51C):c.17T>A (p.Phe6Tyr)	RAD51C (F6Y)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 859541	NM_058216.3(RAD51C):c.18C>G (p.Phe6Leu)	RAD51C (F6L)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 820301	NM_058216.3(RAD51C):c.18C>T (p.Phe6=)	RAD51C	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GLikely benign
Select item 566354	NM_058216.3(RAD51C):c.18C>A (p.Phe6Leu)	RAD51C (F6L)	Single nucleotide variant (missense variant +1 more)	Fanconi anemia complementation group O +2 more	GUncertain significance
Select item 578406	NM_058216.3(RAD51C):c.19C>G (p.Arg7Gly)	RAD51C (R7G)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 538779	NM_058216.3(RAD51C):c.19C>A (p.Arg7Ser)	RAD51C (R7S)	Single nucleotide variant (missense variant +1 more)	Fanconi anemia complementation group O +2 more	GConflicting classifications of pathogenicity
Select item 478608	NM_058216.3(RAD51C):c.19C>T (p.Arg7Cys)	RAD51C (R7C)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 841553	NM_058216.3(RAD51C):c.20G>T (p.Arg7Leu)	RAD51C (R7L)	Single nucleotide variant (missense variant +1 more)	Fanconi anemia complementation group O	GUncertain significance
Select item 820716	NM_058216.3(RAD51C):c.20G>C (p.Arg7Pro)	RAD51C (R7P)	Single nucleotide variant (missense variant +1 more)	Fanconi anemia complementation group O +2 more	GUncertain significance
Select item 480947	NM_058216.3(RAD51C):c.20G>A (p.Arg7His)	RAD51C (R7H)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GConflicting classifications of pathogenicity
Select item 950215	NM_058216.3(RAD51C):c.21C>G (p.Arg7=)	RAD51C	Single nucleotide variant (synonymous variant +1 more)	Fanconi anemia complementation group O	GUncertain significance

<< First< Prev

Page of 21