3704[geneid] - ClinVar - NCBI

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

Search results

Items: 1 to 100 of 366

<< First< Prev

Page of 4

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150785	GRCh38/hg38 20p13-12.3(chr20:80093-6386012)x3	LOC130065401, LOC130065402 +348 more	Copy number gain	See cases	GPathogenic
Select item 149704	GRCh38/hg38 20p13-12.1(chr20:80106-13029401)x3	LOC130065344, LOC130065345 +455 more	Copy number gain	See cases	GPathogenic
Select item 144514	GRCh38/hg38 20p13-q11.1(chr20:80106-30227427)x3	LOC129456123, LOC130065248 +833 more	Copy number gain	See cases	GPathogenic
Select item 154176	GRCh38/hg38 20p13-12.3(chr20:80927-5447679)x3	LOC112694699, LOC112694712 +306 more	Copy number gain	See cases	GUncertain significance
Select item 153731	GRCh38/hg38 20p13-11.1(chr20:80927-26324843)x3	ABHD12, ACSS1 +828 more	Copy number gain	See cases	GPathogenic
Select item 155359	GRCh38/hg38 20p13-11.23(chr20:80928-18688031)x3	ADAM33, ADISSP +571 more	Copy number gain	See cases	GPathogenic
Select item 152841	GRCh38/hg38 20p13-12.3(chr20:84402-6159078)x3	LOC114004355, LOC116286198 +347 more	Copy number gain	See cases	GPathogenic
Select item 2579201	GRCh38/hg38 20p13-11.21(chr20:87153-23635465)x3	ADAM33, ADISSP +731 more	Copy number gain	Renal agenesis	GPathogenic
Select item 59191	GRCh38/hg38 20p13-11.23(chr20:89939-19071495)x3	ADAM33, ADISSP +579 more	Copy number gain	See cases	GPathogenic
Select item 57514	GRCh38/hg38 20p13-11.21(chr20:89939-25697564)x3	FASTKD5, FERMT1 +814 more	Copy number gain	See cases	GPathogenic
Select item 57354	GRCh38/hg38 20p13-11.23(chr20:89939-19146279)x3	LOC130065324, LOC130065325 +581 more	Copy number gain	See cases	GPathogenic
Select item 146596	GRCh38/hg38 20p13-q13.33(chr20:99557-64277321)x3	JPH2, KAT14 +2522 more	Copy number gain	See cases	GPathogenic
Select item 154850	GRCh38/hg38 20p13-12.3(chr20:1269303-8626911)x3	LOC130065322, LOC130065323 +300 more	Copy number gain	See cases	GPathogenic
Select item 59194	GRCh38/hg38 20p13(chr20:3059231-4187716)x3	ADAM33, ADISSP +76 more	Copy number gain	See cases	GPathogenic
Select item 154523	GRCh38/hg38 20p13(chr20:3177313-3849958)x1	ADAM33, ADISSP +45 more	Copy number loss	See cases	GUncertain significance
Select item 145587	GRCh38/hg38 20p13(chr20:3177313-3734506)x1	ADAM33, ATRN +24 more	Copy number loss	See cases	GUncertain significance
Select item 2801083	NM_023935.3(DDRGK1):c.91+19C>G	DDRGK1, ITPA +1 more	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1628612	NM_023935.3(DDRGK1):c.91+9T>A	DDRGK1, ITPA +1 more	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3080841	NM_023935.3(DDRGK1):c.89C>T (p.Ser30Leu)	DDRGK1, ITPA +1 more (S30L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1953932	NM_023935.3(DDRGK1):c.86C>T (p.Ala29Val)	DDRGK1, ITPA +1 more (A29V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1347351	NM_023935.3(DDRGK1):c.80G>A (p.Arg27Gln)	DDRGK1, ITPA +1 more (R27Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1670724	NM_023935.3(DDRGK1):c.78C>T (p.Gly26=)	ITPA, LOC130065321 +1 more	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2005574	NM_023935.3(DDRGK1):c.73C>T (p.Arg25Trp)	DDRGK1, ITPA +1 more (R25W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2166514	NM_023935.3(DDRGK1):c.65C>T (p.Thr22Ile)	DDRGK1, ITPA +1 more (T22I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1986327	NM_023935.3(DDRGK1):c.54C>T (p.Ile18=)	DDRGK1, ITPA +1 more	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1590916	NM_023935.3(DDRGK1):c.30G>C (p.Ala10=)	DDRGK1, ITPA	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2415102	NM_023935.3(DDRGK1):c.20A>T (p.Tyr7Phe)	DDRGK1, ITPA (Y7F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3016973	NM_023935.3(DDRGK1):c.15G>T (p.Val5=)	DDRGK1, ITPA	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1235259	NM_001324237.2(ITPA):c.-272+303G>A	ITPA	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1251484	NM_033453.3(ITPA):c.-159C>G	ITPA	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1264012	NM_033453.3(ITPA):c.-113C>T	ITPA	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 533428	NC_000020.11:g.(?_3209532)_(3209637_?)del	ITPA	Deletion	Inosine triphosphatase deficiency	GPathogenic
Select item 847991	NM_033453.4(ITPA):c.1A>G (p.Met1Val)	ITPA (M1V)	Single nucleotide variant (missense variant +4 more)	Inosine triphosphatase deficiency	GUncertain significance
Select item 1035647	NM_033453.4(ITPA):c.5C>A (p.Ala2Glu)	ITPA (A2E)	Single nucleotide variant (missense variant +3 more)	Inosine triphosphatase deficiency	GUncertain significance
Select item 1613949	NM_033453.4(ITPA):c.6G>T (p.Ala2=)	ITPA	Single nucleotide variant (synonymous variant +3 more)	Inosine triphosphatase deficiency	GLikely benign
Select item 1078943	NM_033453.4(ITPA):c.9C>T (p.Ala3=)	ITPA	Single nucleotide variant (synonymous variant +3 more)	Inosine triphosphatase deficiency	GLikely benign
Select item 2161532	NM_033453.4(ITPA):c.13T>C (p.Leu5=)	ITPA	Single nucleotide variant (synonymous variant +3 more)	Inosine triphosphatase deficiency	GLikely benign
Select item 1425718	NM_033453.4(ITPA):c.34T>C (p.Phe12Leu)	ITPA (F12L)	Single nucleotide variant (missense variant +3 more)	Inosine triphosphatase deficiency	GUncertain significance
Select item 3286960	NM_033453.4(ITPA):c.41C>T (p.Thr14Met)	ITPA (T14M)	Single nucleotide variant (missense variant +3 more)	Inborn genetic diseases	GUncertain significance
Select item 1146743	NM_033453.4(ITPA):c.42G>C (p.Thr14=)	ITPA	Single nucleotide variant (synonymous variant +3 more)	Inosine triphosphatase deficiency	GLikely benign
Select item 1088509	NM_033453.4(ITPA):c.48C>T (p.Asn16=)	ITPA	Single nucleotide variant (synonymous variant +3 more)	Inosine triphosphatase deficiency	GLikely benign
Select item 1066265	NM_033453.4(ITPA):c.49_66+4del	ITPA	Deletion (intron variant +1 more)	Inosine triphosphatase deficiency	GLikely pathogenic
Select item 1574254	NM_033453.4(ITPA):c.49G>T (p.Ala17Ser)	ITPA (A17S)	Single nucleotide variant (missense variant +3 more)	Inosine triphosphatase deficiency	GLikely benign
Select item 661793	NM_033453.4(ITPA):c.57_58delinsAA (p.Leu20Met)	ITPA (L20M)	Indel (missense variant +3 more)	Inosine triphosphatase deficiency	GUncertain significance
Select item 2259999	NM_033453.4(ITPA):c.58C>A (p.Leu20Met)	ITPA (L20M)	Single nucleotide variant (missense variant +3 more)	Inborn genetic diseases	GUncertain significance
Select item 860492	NM_033453.4(ITPA):c.66G>A (p.Glu22=)	ITPA	Single nucleotide variant (synonymous variant +3 more)	Inosine triphosphatase deficiency	GUncertain significance
Select item 1028521	NM_033453.4(ITPA):c.66+3G>C	ITPA	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 35	GUncertain significance
Select item 533424	NM_033453.4(ITPA):c.66+5C>T	ITPA	Single nucleotide variant (intron variant)	Inosine triphosphatase deficiency	GUncertain significance
Select item 2192969	NM_033453.4(ITPA):c.66+8G>T	ITPA	Single nucleotide variant (intron variant)	Inosine triphosphatase deficiency	GUncertain significance
Select item 2702198	NM_033453.4(ITPA):c.66+10G>C	ITPA	Single nucleotide variant (intron variant)	Inosine triphosphatase deficiency	GLikely benign
Select item 1633958	NM_033453.4(ITPA):c.66+12_66+14dup	ITPA	Duplication (intron variant)	Inosine triphosphatase deficiency	GLikely benign
Select item 1138724	NM_033453.4(ITPA):c.66+10G>A	ITPA	Single nucleotide variant (intron variant)	Inosine triphosphatase deficiency	GLikely benign
Select item 2734798	NM_033453.4(ITPA):c.66+15T>C	ITPA	Single nucleotide variant (intron variant)	Inosine triphosphatase deficiency	GLikely benign
Select item 2703904	NM_033453.4(ITPA):c.66+16T>G	ITPA	Single nucleotide variant (intron variant)	Inosine triphosphatase deficiency	GLikely benign
Select item 1578976	NM_033453.4(ITPA):c.66+17G>A	ITPA	Single nucleotide variant (intron variant)	Inosine triphosphatase deficiency	GLikely benign
Select item 1529643	NM_033453.4(ITPA):c.66+18G>A	ITPA	Single nucleotide variant (intron variant)	Inosine triphosphatase deficiency	GLikely benign
Select item 1235412	NM_033453.4(ITPA):c.67-198G>A	ITPA	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1178607	NM_033453.4(ITPA):c.67-141G>A	ITPA	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1257433	NM_033453.4(ITPA):c.67-128C>T	ITPA	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1224617	NM_033453.4(ITPA):c.67-83G>A	ITPA	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2103972	NM_033453.4(ITPA):c.67-19C>T	ITPA	Single nucleotide variant (intron variant)	Inosine triphosphatase deficiency	GLikely benign
Select item 533414	NM_033453.4(ITPA):c.67-12_67-8del	ITPA	Deletion (intron variant)	Inosine triphosphatase deficiency	GLikely benign
Select item 1564128	NM_033453.4(ITPA):c.67-9T>C	ITPA	Single nucleotide variant (intron variant)	Inosine triphosphatase deficiency	GLikely benign
Select item 2113025	NM_033453.4(ITPA):c.67-2A>G	ITPA	Single nucleotide variant (splice acceptor variant +1 more)	Inosine triphosphatase deficiency	GLikely pathogenic
Select item 1504690	NM_033453.4(ITPA):c.67G>A (p.Val23Ile)	ITPA (V6I +1 more)	Single nucleotide variant (5 prime UTR variant +3 more)	Inosine triphosphatase deficiency	GUncertain significance
Select item 1623619	NM_033453.4(ITPA):c.69C>T (p.Val23=)	ITPA	Single nucleotide variant (5 prime UTR variant +3 more)	Inosine triphosphatase deficiency	GLikely benign
Select item 1539903	NM_033453.4(ITPA):c.69C>G (p.Val23=)	ITPA	Single nucleotide variant (5 prime UTR variant +3 more)	Inosine triphosphatase deficiency	GLikely benign
Select item 580951	NM_033453.4(ITPA):c.70dup (p.Val24fs)	ITPA (V7fs +1 more)	Duplication (5 prime UTR variant +3 more)	Inosine triphosphatase deficiency	GPathogenic
Select item 943399	NM_033453.4(ITPA):c.70G>A (p.Val24Ile)	ITPA (V7I +1 more)	Single nucleotide variant (5 prime UTR variant +3 more)	Inosine triphosphatase deficiency	GUncertain significance
Select item 2867319	NM_033453.4(ITPA):c.73C>T (p.Gln25Ter)	ITPA (Q67* +2 more)	Single nucleotide variant (5 prime UTR variant +3 more)	Inosine triphosphatase deficiency	GPathogenic
Select item 2031686	NM_033453.4(ITPA):c.90dup (p.Phe31fs)	ITPA (F14fs +2 more)	Duplication (5 prime UTR variant +3 more)	Inosine triphosphatase deficiency	GPathogenic
Select item 794439	NM_033453.4(ITPA):c.93T>C (p.Phe31=)	ITPA	Single nucleotide variant (5 prime UTR variant +3 more)	Inosine triphosphatase deficiency	GLikely benign
Select item 14746	NM_033453.4(ITPA):c.94C>A (p.Pro32Thr)	ITPA (P32T +1 more)	Single nucleotide variant (5 prime UTR variant +3 more)	peginterferon alfa-2b and ribavirin response - Toxicity	Gdrug response
Select item 464837	NM_033453.4(ITPA):c.96A>G (p.Pro32=)	ITPA	Single nucleotide variant (5 prime UTR variant +3 more)	Inosine triphosphatase deficiency +1 more	GLikely benign
Select item 1590723	NM_033453.4(ITPA):c.99C>T (p.Cys33=)	ITPA	Single nucleotide variant (5 prime UTR variant +3 more)	Inosine triphosphatase deficiency	GLikely benign
Select item 854570	NM_033453.4(ITPA):c.100A>G (p.Thr34Ala)	ITPA (T34A +1 more)	Single nucleotide variant (5 prime UTR variant +3 more)	Inosine triphosphatase deficiency	GUncertain significance
Select item 533421	NM_033453.4(ITPA):c.101C>A (p.Thr34Asn)	ITPA (T34N +1 more)	Single nucleotide variant (5 prime UTR variant +3 more)	Inosine triphosphatase deficiency +2 more	GUncertain significance
Select item 793467	NM_033453.4(ITPA):c.103T>C (p.Leu35=)	ITPA	Single nucleotide variant (5 prime UTR variant +3 more)	Inosine triphosphatase deficiency	GLikely benign
Select item 1492687	NM_033453.4(ITPA):c.106G>A (p.Val36Met)	ITPA (V19M +1 more)	Single nucleotide variant (5 prime UTR variant +3 more)	Inosine triphosphatase deficiency	GUncertain significance
Select item 2011469	NM_033453.4(ITPA):c.109G>A (p.Ala37Thr)	ITPA (A20T +2 more)	Single nucleotide variant (5 prime UTR variant +3 more)	Inosine triphosphatase deficiency	GUncertain significance
Select item 1056971	NM_033453.4(ITPA):c.110C>T (p.Ala37Val)	ITPA (A20V +1 more)	Single nucleotide variant (5 prime UTR variant +3 more)	Inosine triphosphatase deficiency	GUncertain significance
Select item 3111681	NM_033453.4(ITPA):c.113A>G (p.Gln38Arg)	ITPA (Q21R +2 more)	Single nucleotide variant (5 prime UTR variant +3 more)	Inborn genetic diseases	GUncertain significance
Select item 1140799	NM_033453.4(ITPA):c.117A>G (p.Lys39=)	ITPA	Single nucleotide variant (5 prime UTR variant +3 more)	Inosine triphosphatase deficiency	GLikely benign
Select item 533412	NM_033453.4(ITPA):c.117A>C (p.Lys39Asn)	ITPA (K39N +1 more)	Single nucleotide variant (5 prime UTR variant +3 more)	Inosine triphosphatase deficiency	GUncertain significance
Select item 464827	NM_033453.4(ITPA):c.124C>T (p.Leu42=)	ITPA	Single nucleotide variant (5 prime UTR variant +3 more)	Inosine triphosphatase deficiency +2 more	GLikely benign
Select item 646228	NM_033453.4(ITPA):c.124+1G>A	ITPA	Single nucleotide variant (splice donor variant +1 more)	Inosine triphosphatase deficiency +1 more	GPathogenic/Likely pathogenic
Select item 804162	NM_033453.4(ITPA):c.124+2T>C	ITPA	Single nucleotide variant (splice donor variant +1 more)	Inosine triphosphatase deficiency +1 more	GPathogenic/Likely pathogenic
Select item 860575	NM_033453.4(ITPA):c.124+5G>A	ITPA	Single nucleotide variant (intron variant)	Inosine triphosphatase deficiency	GUncertain significance
Select item 783107	NM_033453.4(ITPA):c.124+7C>T	ITPA	Single nucleotide variant (intron variant)	Inosine triphosphatase deficiency	GLikely benign
Select item 1545303	NM_033453.4(ITPA):c.124+16_124+20del	ITPA	Microsatellite (intron variant)	Inosine triphosphatase deficiency	GLikely benign
Select item 1661874	NM_033453.4(ITPA):c.124+11G>C	ITPA	Single nucleotide variant (intron variant)	Inosine triphosphatase deficiency	GLikely benign
Select item 2901415	NM_033453.4(ITPA):c.124+13T>C	ITPA	Single nucleotide variant (intron variant)	Inosine triphosphatase deficiency	GLikely benign
Select item 1570894	NM_033453.4(ITPA):c.124+20T>C	ITPA	Single nucleotide variant (intron variant)	Inosine triphosphatase deficiency	GLikely benign
Select item 14747	NM_033453.4(ITPA):c.124+21A>C	ITPA	Single nucleotide variant (intron variant)	peginterferon alfa-2b and ribavirin response - Toxicity	Gdrug response
Select item 1135992	NM_033453.4(ITPA):c.125-25T>C	ITPA	Single nucleotide variant (5 prime UTR variant +1 more)	Inosine triphosphatase deficiency +1 more	GLikely benign
Select item 1588389	NM_033453.4(ITPA):c.125-17T>A	ITPA	Single nucleotide variant (5 prime UTR variant +1 more)	Inosine triphosphatase deficiency	GLikely benign
Select item 1622836	NM_033453.4(ITPA):c.125-16C>G	ITPA	Single nucleotide variant (5 prime UTR variant +1 more)	Inosine triphosphatase deficiency	GLikely benign
Select item 1588008	NM_033453.4(ITPA):c.125-12T>G	ITPA	Single nucleotide variant (5 prime UTR variant +1 more)	Inosine triphosphatase deficiency	GLikely benign
Select item 2420357	NM_033453.4(ITPA):c.125-8C>G	ITPA	Single nucleotide variant (5 prime UTR variant +1 more)	Inosine triphosphatase deficiency	GLikely benign
Select item 2081158	NM_033453.4(ITPA):c.125-5A>G	ITPA	Single nucleotide variant (5 prime UTR variant +1 more)	Inosine triphosphatase deficiency	GUncertain significance

<< First< Prev

Page of 4