LOC129992813[gene] - ClinVar - NCBI

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

Search results

Items: 1 to 100 of 208

<< First< Prev

Page of 3

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58029	GRCh38/hg38 4q12-22.3(chr4:51831622-97505618)x3	LOC129389216, LOC129389217 +757 more	Copy number gain	See cases	GPathogenic
Select item 155391	GRCh38/hg38 4q13.2-22.3(chr4:68686088-95294456)x3	LOC129992695, LOC129992696 +533 more	Copy number gain	See cases	GPathogenic
Select item 2579270	GRCh38/hg38 4q21.21-23(chr4:79123548-99457773)x1	ABCG2, ABRAXAS1 +338 more	Copy number loss	Chromosome 4q21 deletion syndrome	GPathogenic
Select item 59455	GRCh38/hg38 4q21.21-22.1(chr4:79575748-92412449)x1	ABCG2, ABRAXAS1 +251 more	Copy number loss	See cases	GPathogenic
Select item 148194	GRCh38/hg38 4q21.21-24(chr4:80427023-100855441)x1	ABCG2, ABRAXAS1 +335 more	Copy number loss	See cases	GPathogenic
Select item 145649	GRCh38/hg38 4q21.21-22.3(chr4:80879777-94809447)x1	ABCG2, ABRAXAS1 +244 more	Copy number loss	See cases	GPathogenic
Select item 152923	GRCh38/hg38 4q21.23-22.2(chr4:85449365-93973194)x1	ABCG2, AFF1 +126 more	Copy number loss	See cases	GPathogenic
Select item 144779	GRCh38/hg38 4q21.3-22.1(chr4:87067415-88158276)x3	ABCG2, AFF1 +32 more	Copy number gain	See cases	GUncertain significance
Select item 1684060	NC_000004.12:g.88007437G>A	LOC129992813, PKD2	Single nucleotide variant	not provided	GLikely benign
Select item 1300458	NC_000004.12:g.88007613G>A	LOC129992813, PKD2	Single nucleotide variant	not provided	GLikely benign
Select item 350007	NM_000297.4(PKD2):c.-82G>C	LOC129992813, PKD2	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 more	GLikely benign
Select item 350006	NM_000297.4(PKD2):c.-82G>A	LOC129992813, PKD2	Single nucleotide variant (5 prime UTR variant +1 more)	Polycystic kidney disease 2	GUncertain significance
Select item 350008	NM_000297.4(PKD2):c.-68A>G	LOC129992813, PKD2	Single nucleotide variant (non-coding transcript variant +1 more)	Polycystic kidney disease 2	GUncertain significance
Select item 350009	NM_000297.4(PKD2):c.-64C>T	LOC129992813, PKD2	Single nucleotide variant (5 prime UTR variant +1 more)	Polycystic kidney disease 2	GUncertain significance
Select item 903898	NM_000297.4(PKD2):c.-47G>C	LOC129992813, PKD2	Single nucleotide variant (non-coding transcript variant +1 more)	Polycystic kidney disease 2	GUncertain significance
Select item 350010	NM_000297.4(PKD2):c.-26C>T	LOC129992813, PKD2	Single nucleotide variant (5 prime UTR variant +1 more)	Polycystic kidney disease 2	GUncertain significance
Select item 584210	NC_000004.12:g.(?_88007714)_(88075714_?)del	LOC123477784, LOC129992813 +2 more	Deletion	Autosomal dominant polycystic kidney disease	GPathogenic
Select item 477620	NC_000004.12:g.(?_88007714)_(88058123_?)del	LOC123477784, LOC129992813 +2 more	Deletion	Autosomal dominant polycystic kidney disease	GPathogenic
Select item 997305	NM_000297.4(PKD2):c.-14C>A	LOC129992813, PKD2	Single nucleotide variant (5 prime UTR variant +1 more)	Polycystic kidney disease	GLikely benign
Select item 3029240	NM_000297.4(PKD2):c.-3G>A	LOC129992813, PKD2	Single nucleotide variant (5 prime UTR variant +1 more)	PKD2-related disorder	GLikely benign
Select item 2078491	NM_000297.4(PKD2):c.2T>A (p.Met1Lys)	LOC129992813, PKD2 (M1K)	Single nucleotide variant (missense variant +2 more)	Autosomal dominant polycystic kidney disease	GUncertain significance
Select item 2971205	NM_000297.4(PKD2):c.6G>A (p.Val2=)	LOC129992813, PKD2	Single nucleotide variant (synonymous variant +1 more)	Autosomal dominant polycystic kidney disease	GLikely benign
Select item 903899	NM_000297.4(PKD2):c.9C>T (p.Asn3=)	LOC129992813, PKD2	Single nucleotide variant (synonymous variant +1 more)	Polycystic kidney disease 2 +2 more	GConflicting classifications of pathogenicity
Select item 1810101	NM_000297.4(PKD2):c.11C>A (p.Ser4Tyr)	LOC129992813, PKD2 (S4Y)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2038698	NM_000297.4(PKD2):c.17G>A (p.Arg6His)	LOC129992813, PKD2 (R6H)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant polycystic kidney disease	GUncertain significance
Select item 2413831	NM_000297.4(PKD2):c.18C>G (p.Arg6=)	LOC129992813, PKD2	Single nucleotide variant (synonymous variant +1 more)	Autosomal dominant polycystic kidney disease	GLikely benign
Select item 1058615	NM_000297.4(PKD2):c.19G>A (p.Val7Met)	LOC129992813, PKD2 (V7M)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant polycystic kidney disease +1 more	GUncertain significance
Select item 1439222	NM_000297.4(PKD2):c.23A>G (p.Gln8Arg)	LOC129992813, PKD2 (Q8R)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant polycystic kidney disease	GUncertain significance
Select item 2920117	NM_000297.4(PKD2):c.35C>T (p.Pro12Leu)	LOC129992813, PKD2 (P12L)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant polycystic kidney disease	GLikely benign
Select item 2882463	NM_000297.4(PKD2):c.37G>C (p.Gly13Arg)	LOC129992813, PKD2 (G13R)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant polycystic kidney disease	GUncertain significance
Select item 1612895	NM_000297.4(PKD2):c.39G>C (p.Gly13=)	LOC129992813, PKD2	Single nucleotide variant (synonymous variant +1 more)	Autosomal dominant polycystic kidney disease	GLikely benign
Select item 1344891	NM_000297.4(PKD2):c.41del (p.Asp14fs)	LOC129992813, PKD2 (D14fs)	Deletion (frameshift variant +1 more)	PKD2-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 2766895	NM_000297.4(PKD2):c.42C>T (p.Asp14=)	LOC129992813, PKD2	Single nucleotide variant (synonymous variant +1 more)	Autosomal dominant polycystic kidney disease	GLikely benign
Select item 2960211	NM_000297.4(PKD2):c.46A>G (p.Lys16Glu)	LOC129992813, PKD2 (K16E)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant polycystic kidney disease	GUncertain significance
Select item 2911882	NM_000297.4(PKD2):c.54G>C (p.Pro18=)	LOC129992813, PKD2	Single nucleotide variant (synonymous variant +1 more)	Autosomal dominant polycystic kidney disease	GLikely benign
Select item 2826064	NM_000297.4(PKD2):c.55C>T (p.Pro19Ser)	LOC129992813, PKD2 (P19S)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant polycystic kidney disease	GUncertain significance
Select item 2002846	NM_000297.4(PKD2):c.56C>T (p.Pro19Leu)	LOC129992813, PKD2 (P19L)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant polycystic kidney disease	GUncertain significance
Select item 994726	NM_000297.4(PKD2):c.59C>T (p.Ala20Val)	LOC129992813, PKD2 (A20V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1977823	NM_000297.4(PKD2):c.64C>A (p.Arg22Ser)	LOC129992813, PKD2 (R22S)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant polycystic kidney disease +1 more	GUncertain significance
Select item 2822571	NM_000297.4(PKD2):c.65_66delinsTT (p.Arg22Leu)	LOC129992813, PKD2 (R22L)	Indel (missense variant +1 more)	Autosomal dominant polycystic kidney disease	GUncertain significance
Select item 2047318	NM_000297.4(PKD2):c.65G>A (p.Arg22His)	LOC129992813, PKD2 (R22H)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant polycystic kidney disease	GUncertain significance
Select item 1987127	NM_000297.4(PKD2):c.68C>T (p.Ala23Val)	LOC129992813, PKD2 (A23V)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant polycystic kidney disease	GUncertain significance
Select item 188333	NM_000297.4(PKD2):c.70C>T (p.Pro24Ser)	LOC129992813, PKD2 (P24S)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant polycystic kidney disease +1 more	GBenign/Likely benign
Select item 2695968	NM_000297.4(PKD2):c.73G>C (p.Asp25His)	LOC129992813, PKD2 (D25H)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant polycystic kidney disease	GUncertain significance
Select item 1983131	NM_000297.4(PKD2):c.76C>T (p.Pro26Ser)	LOC129992813, PKD2 (P26S)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant polycystic kidney disease	GUncertain significance
Select item 1958989	NM_000297.4(PKD2):c.76C>A (p.Pro26Thr)	LOC129992813, PKD2 (P26T)	Single nucleotide variant (non-coding transcript variant +1 more)	Autosomal dominant polycystic kidney disease	GUncertain significance
Select item 1983383	NM_000297.4(PKD2):c.77C>T (p.Pro26Leu)	LOC129992813, PKD2 (P26L)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant polycystic kidney disease	GUncertain significance
Select item 477628	NM_000297.4(PKD2):c.78G>T (p.Pro26=)	LOC129992813, PKD2	Single nucleotide variant (synonymous variant +1 more)	Autosomal dominant polycystic kidney disease	GLikely benign
Select item 1896163	NM_000297.4(PKD2):c.82C>T (p.Arg28Trp)	LOC129992813, PKD2 (R28W)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant polycystic kidney disease +1 more	GUncertain significance
Select item 92798	NM_000297.4(PKD2):c.83G>C (p.Arg28Pro)	LOC129992813, PKD2 (R28P)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GBenign
Select item 969177	NM_000297.4(PKD2):c.85C>G (p.Leu29Val)	LOC129992813, PKD2 (L29V)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant polycystic kidney disease	GUncertain significance
Select item 931035	NM_000297.4(PKD2):c.95G>A (p.Gly32Asp)	LOC129992813, PKD2 (G32D)	Single nucleotide variant (missense variant +1 more)	Polycystic kidney disease 2	GUncertain significance
Select item 1036884	NM_000297.4(PKD2):c.103_104delinsAA (p.Ala35Asn)	LOC129992813, PKD2 (A35N)	Indel (missense variant +1 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 350011	NM_000297.4(PKD2):c.103G>A (p.Ala35Thr)	LOC129992813, PKD2 (A35T)	Single nucleotide variant (non-coding transcript variant +1 more)	Polycystic kidney disease 2	GUncertain significance
Select item 903900	NM_000297.4(PKD2):c.104C>A (p.Ala35Asp)	LOC129992813, PKD2 (A35D)	Single nucleotide variant (missense variant +1 more)	Polycystic kidney disease 2	GUncertain significance
Select item 1179063	NM_000297.4(PKD2):c.110del (p.Gly37fs)	LOC129992813, PKD2 (G37fs)	Deletion (frameshift variant +1 more)	Polycystic kidney disease 2	GPathogenic
Select item 659676	NM_000297.4(PKD2):c.109G>A (p.Gly37Ser)	LOC129992813, PKD2 (G37S)	Single nucleotide variant (missense variant +1 more)	Polycystic kidney disease 2 +1 more	GUncertain significance
Select item 992977	NM_000297.4(PKD2):c.111_117delinsGG (p.Ser39fs)	LOC129992813, PKD2 (S39fs)	Indel (non-coding transcript variant +1 more)	Polycystic kidney disease 2	GLikely pathogenic
Select item 2984519	NM_000297.4(PKD2):c.112G>A (p.Ala38Thr)	LOC129992813, PKD2 (A38T)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant polycystic kidney disease	GUncertain significance
Select item 2123276	NM_000297.4(PKD2):c.114C>A (p.Ala38=)	LOC129992813, PKD2	Single nucleotide variant (synonymous variant +1 more)	Autosomal dominant polycystic kidney disease	GLikely benign
Select item 2191448	NM_000297.4(PKD2):c.120C>T (p.Leu40=)	LOC129992813, PKD2	Single nucleotide variant (synonymous variant +1 more)	Autosomal dominant polycystic kidney disease	GLikely benign
Select item 2175889	NM_000297.4(PKD2):c.121G>C (p.Ala41Pro)	LOC129992813, PKD2 (A41P)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant polycystic kidney disease	GUncertain significance
Select item 2727575	NM_000297.4(PKD2):c.123C>T (p.Ala41=)	LOC129992813, PKD2	Single nucleotide variant (synonymous variant +1 more)	Autosomal dominant polycystic kidney disease	GLikely benign
Select item 3004335	NM_000297.4(PKD2):c.132C>T (p.Gly44=)	LOC129992813, PKD2	Single nucleotide variant (synonymous variant +1 more)	Autosomal dominant polycystic kidney disease	GLikely benign
Select item 663883	NM_000297.4(PKD2):c.133G>A (p.Gly45Ser)	LOC129992813, PKD2 (G45S)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant polycystic kidney disease	GUncertain significance
Select item 2574209	NM_000297.4(PKD2):c.136C>T (p.Leu46Phe)	LOC129992813, PKD2 (L46F)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant polycystic kidney disease +1 more	GUncertain significance
Select item 2776731	NM_000297.4(PKD2):c.140G>T (p.Cys47Phe)	LOC129992813, PKD2 (C47F)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant polycystic kidney disease	GUncertain significance
Select item 2814947	NM_000297.4(PKD2):c.144G>C (p.Glu48Asp)	LOC129992813, PKD2 (E48D)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant polycystic kidney disease	GUncertain significance
Select item 374110	NM_000297.4(PKD2):c.145C>T (p.Gln49Ter)	LOC129992813, PKD2 (Q49*)	Single nucleotide variant (nonsense +1 more)	Polycystic kidney disease	GPathogenic
Select item 1979191	NM_000297.4(PKD2):c.146A>G (p.Gln49Arg)	LOC129992813, PKD2 (Q49R)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant polycystic kidney disease	GUncertain significance
Select item 2061336	NM_000297.4(PKD2):c.149G>A (p.Arg50Gln)	LOC129992813, PKD2 (R50Q)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant polycystic kidney disease	GUncertain significance
Select item 1404259	NM_000297.4(PKD2):c.149G>C (p.Arg50Pro)	LOC129992813, PKD2 (R50P)	Single nucleotide variant (non-coding transcript variant +1 more)	Autosomal dominant polycystic kidney disease	GUncertain significance
Select item 997320	NM_000297.4(PKD2):c.152del (p.Gly51fs)	LOC129992813, PKD2 (G51fs)	Deletion (frameshift variant +1 more)	Autosomal dominant polycystic kidney disease	GPathogenic
Select item 2858901	NM_000297.4(PKD2):c.150G>A (p.Arg50=)	LOC129992813, PKD2	Single nucleotide variant (synonymous variant +1 more)	Autosomal dominant polycystic kidney disease	GLikely benign
Select item 2048253	NM_000297.4(PKD2):c.152G>T (p.Gly51Val)	LOC129992813, PKD2 (G51V)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant polycystic kidney disease	GUncertain significance
Select item 350012	NM_000297.4(PKD2):c.154C>A (p.Leu52Met)	LOC129992813, PKD2 (L52M)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +3 more	GUncertain significance
Select item 997246	NM_000297.4(PKD2):c.155T>C (p.Leu52Pro)	LOC129992813, PKD2 (L52P)	Single nucleotide variant (missense variant +1 more)	Polycystic kidney disease	GUncertain significance
Select item 2719263	NM_000297.4(PKD2):c.161T>C (p.Ile54Thr)	LOC129992813, PKD2 (I54T)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant polycystic kidney disease	GUncertain significance
Select item 1953654	NM_000297.4(PKD2):c.163G>A (p.Glu55Lys)	LOC129992813, PKD2 (E55K)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant polycystic kidney disease	GUncertain significance
Select item 1061865	NM_000297.4(PKD2):c.170A>G (p.Gln57Arg)	LOC129992813, PKD2 (Q57R)	Single nucleotide variant (missense variant +1 more)	PKD2-related disorder +1 more	GUncertain significance
Select item 704310	NM_000297.4(PKD2):c.180G>A (p.Arg60=)	LOC129992813, PKD2	Single nucleotide variant (synonymous variant +1 more)	Autosomal dominant polycystic kidney disease	GLikely benign
Select item 636465	NM_000297.4(PKD2):c.181C>T (p.Gln61Ter)	LOC129992813, PKD2 (Q61*)	Single nucleotide variant (nonsense +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 2764708	NM_000297.4(PKD2):c.182A>G (p.Gln61Arg)	LOC129992813, PKD2 (Q61R)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant polycystic kidney disease	GUncertain significance
Select item 2807024	NM_000297.4(PKD2):c.185C>T (p.Ala62Val)	LOC129992813, PKD2 (A62V)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant polycystic kidney disease	GUncertain significance
Select item 350013	NM_000297.4(PKD2):c.189C>T (p.Ala63=)	LOC129992813, PKD2	Single nucleotide variant (synonymous variant +1 more)	Autosomal dominant polycystic kidney disease +1 more	GConflicting classifications of pathogenicity
Select item 2966507	NM_000297.4(PKD2):c.195_196delinsAA (p.Asp66Asn)	LOC129992813, PKD2 (D66N)	Indel (missense variant +1 more)	Autosomal dominant polycystic kidney disease	GUncertain significance
Select item 873388	NM_000297.4(PKD2):c.196_199dup (p.Pro67fs)	LOC129992813, PKD2 (P67fs)	Duplication (frameshift variant +1 more)	Polycystic kidney disease 2 +1 more	GPathogenic
Select item 1435552	NM_000297.4(PKD2):c.196G>C (p.Asp66His)	LOC129992813, PKD2 (D66H)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 477627	NM_000297.4(PKD2):c.203dup (p.Ala69fs)	LOC129992813, PKD2 (A69fs)	Duplication (frameshift variant +1 more)	Polycystic kidney disease 2 +2 more	GPathogenic
Select item 961356	NM_000297.4(PKD2):c.198C>A (p.Asp66Glu)	LOC129992813, PKD2 (D66E)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant polycystic kidney disease	GUncertain significance
Select item 905784	NM_000297.4(PKD2):c.199C>T (p.Pro67Ser)	LOC129992813, PKD2 (P67S)	Single nucleotide variant (non-coding transcript variant +1 more)	Polycystic kidney disease 2	GUncertain significance
Select item 2987154	NM_000297.4(PKD2):c.208_219del (p.Gly70_Ala73del)	LOC129992813, PKD2	Deletion (inframe_deletion +1 more)	Autosomal dominant polycystic kidney disease	GUncertain significance
Select item 905785	NM_000297.4(PKD2):c.203C>A (p.Pro68Gln)	LOC129992813, PKD2 (P68Q)	Single nucleotide variant (non-coding transcript variant +1 more)	Autosomal dominant polycystic kidney disease +1 more	GUncertain significance
Select item 2099535	NM_000297.4(PKD2):c.204G>A (p.Pro68=)	LOC129992813, PKD2	Single nucleotide variant (synonymous variant +1 more)	Autosomal dominant polycystic kidney disease	GLikely benign
Select item 2087027	NM_000297.4(PKD2):c.208G>T (p.Gly70Ter)	LOC129992813, PKD2 (G70*)	Single nucleotide variant (nonsense +1 more)	Autosomal dominant polycystic kidney disease	GPathogenic
Select item 1521777	NM_000297.4(PKD2):c.208G>A (p.Gly70Arg)	LOC129992813, PKD2 (G70R)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant polycystic kidney disease	GUncertain significance
Select item 3248537	NM_000297.4(PKD2):c.210_211del (p.Ala71fs)	LOC129992813, PKD2 (A71fs)	Deletion (frameshift variant +1 more)	Polycystic kidney disease 2	GPathogenic
Select item 2564735	NM_000297.4(PKD2):c.218C>T (p.Ala73Val)	LOC129992813, PKD2 (A73V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1449751	NM_000297.4(PKD2):c.219C>T (p.Ala73=)	LOC129992813, PKD2	Single nucleotide variant (synonymous variant +1 more)	Autosomal dominant polycystic kidney disease	GLikely benign
Select item 2796066	NM_000297.4(PKD2):c.224C>A (p.Pro75His)	LOC129992813, PKD2 (P75H)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant polycystic kidney disease	GUncertain significance

<< First< Prev

Page of 3