5096[geneid] - ClinVar - NCBI

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

Search results

Items: 1 to 100 of 1199

<< First< Prev

Page of 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154258	GRCh38/hg38 3q11.1-24(chr3:93800620-145695381)x3	PDIA5, PHLDB2 +1344 more	Copy number gain	See cases	GPathogenic
Select item 145614	GRCh38/hg38 3q13.11-29(chr3:103426882-198110178)x3	LOC115995524, LOC115995525 +2647 more	Copy number gain	See cases	GPathogenic
Select item 153723	GRCh38/hg38 3q21.3-23(chr3:126106779-140918089)x3	LOC129937605, LOC129937606 +484 more	Copy number gain	See cases	GUncertain significance
Select item 152454	GRCh38/hg38 3q22.1-23(chr3:129817243-141425155)x1	A4GNT, ACAD11 +282 more	Copy number loss	See cases	GPathogenic
Select item 147358	GRCh38/hg38 3q22.1-24(chr3:129817243-143381624)x1	A4GNT, ACAD11 +345 more	Copy number loss	See cases	GPathogenic
Select item 150380	GRCh38/hg38 3q22.1-23(chr3:130401265-139005019)x1	A4GNT, ACAD11 +212 more	Copy number loss	See cases	GPathogenic
Select item 155567	GRCh38/hg38 3q22.1-24(chr3:132716978-144784743)x1	A4GNT, AMOTL2 +301 more	Copy number loss	See cases	GPathogenic
Select item 57831	GRCh38/hg38 3q22.1-22.3(chr3:132972567-136894498)x1	AMOTL2, ANAPC13 +102 more	Copy number loss	See cases	GPathogenic
Select item 149077	GRCh38/hg38 3q22.2-25.1(chr3:134257180-149729538)x1	LOC129937630, LOC129937631 +320 more	Copy number loss	See cases	GPathogenic
Select item 151765	GRCh38/hg38 3q22.2-23(chr3:134333553-141701458)x1	A4GNT, AMOTL2 +167 more	Copy number loss	See cases	GPathogenic
Select item 146737	GRCh38/hg38 3q22.2-22.3(chr3:134824436-136787321)x3	EPHB1, LOC112903838 +20 more	Copy number gain	See cases	GUncertain significance
Select item 57832	GRCh38/hg38 3q22.2-24(chr3:135227451-145870770)x1	A4GNT, ARMC8 +221 more	Copy number loss	See cases	GPathogenic
Select item 523197	GRCh38/hg38 3q22.2-22.3(chr3:135343568-136642002)x1	LOC129937632, LOC129937633 +11 more	Copy number loss	Intellectual disability, autosomal dominant 47	GLikely pathogenic
Select item 523198	GRCh38/hg38 3q22.2-22.3(chr3:135423479-136961152)x1	IL20RB, IL20RB-AS1 +26 more	Copy number loss	Intellectual disability, autosomal dominant 47	GLikely pathogenic
Select item 149150	GRCh38/hg38 3q22.2-22.3(chr3:135930259-136445332)x3	LOC112903838, LOC123038190 +7 more	Copy number gain	See cases	GUncertain significance
Select item 132644	NG_008939.1(PCCB):g.896_8947del	PCCB	Deletion	Propionic acidemia	GPathogenic
Select item 683365	NM_000532.4(PCCB):c.-390G>C	PCCB	Single nucleotide variant	not provided	GBenign
Select item 1187790	NC_000003.12:g.136250221C>T	PCCB	Single nucleotide variant	not provided	GLikely benign
Select item 1202278	NC_000003.12:g.136250236C>G	PCCB	Single nucleotide variant	not provided	GLikely benign
Select item 343452	NM_000532.4(PCCB):c.-46A>T	PCCB	Single nucleotide variant	Propionic acidemia	GUncertain significance
Select item 343453	NM_000532.4(PCCB):c.-37C>T	PCCB	Single nucleotide variant	not provided +2 more	GBenign/Likely benign
Select item 343454	NM_000532.5(PCCB):c.-35G>A	PCCB	Single nucleotide variant (5 prime UTR variant)	Propionic acidemia	GUncertain significance
Select item 343455	NM_000532.5(PCCB):c.-34G>A	PCCB	Single nucleotide variant (5 prime UTR variant)	Propionic acidemia	GUncertain significance
Select item 1069994	NM_000532.5(PCCB):c.-8_12del (p.Met1fs)	PCCB (M1fs)	Deletion (frameshift variant +1 more)	Propionic acidemia	GPathogenic
Select item 507158	NM_000532.5(PCCB):c.-12G>A	PCCB	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 653524	NC_000003.12:g.(?_136250366)_(136250568_?)del	PCCB	Deletion	Propionic acidemia	GPathogenic
Select item 550487	NM_000532.5(PCCB):c.11_28dup (p.Ala4_Ala9dup)	PCCB	Duplication (inframe_insertion +1 more)	Propionic acidemia	GUncertain significance
Select item 2745320	NM_000532.5(PCCB):c.2T>G (p.Met1Arg)	PCCB (M1R)	Single nucleotide variant (missense variant +1 more)	Propionic acidemia	GPathogenic
Select item 1968405	NM_000532.5(PCCB):c.2_3delinsAA (p.Met1Lys)	PCCB (M1K)	Indel (missense variant +1 more)	Propionic acidemia	GPathogenic
Select item 1067629	NM_000532.5(PCCB):c.2T>C (p.Met1Thr)	PCCB (M1T)	Single nucleotide variant (missense variant +1 more)	Propionic acidemia	GPathogenic
Select item 93228	NM_000532.5(PCCB):c.2T>A (p.Met1Lys)	PCCB (M1K)	Single nucleotide variant (missense variant +1 more)	not provided	GPathogenic
Select item 93230	NM_000532.5(PCCB):c.3G>A (p.Met1Ile)	PCCB (M1I)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GPathogenic
Select item 2169171	NM_000532.5(PCCB):c.5C>T (p.Ala2Val)	PCCB (A2V)	Single nucleotide variant (missense variant)	Propionic acidemia	GUncertain significance
Select item 2165024	NM_000532.5(PCCB):c.5C>A (p.Ala2Glu)	PCCB (A2E)	Single nucleotide variant (missense variant)	Propionic acidemia	GUncertain significance
Select item 2805467	NM_000532.5(PCCB):c.6G>C (p.Ala2=)	PCCB	Single nucleotide variant (synonymous variant)	Propionic acidemia	GLikely benign
Select item 1150812	NM_000532.5(PCCB):c.6G>A (p.Ala2=)	PCCB	Single nucleotide variant (synonymous variant)	Propionic acidemia	GLikely benign
Select item 551958	NM_000532.5(PCCB):c.12_26del (p.Leu5_Ala9del)	PCCB	Deletion (inframe_deletion)	Propionic acidemia	GUncertain significance
Select item 1403866	NM_000532.5(PCCB):c.8C>T (p.Ala3Val)	PCCB (A3V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2123798	NM_000532.5(PCCB):c.10del (p.Ala4fs)	PCCB (A4fs)	Deletion (frameshift variant)	Propionic acidemia	GPathogenic
Select item 1619119	NM_000532.5(PCCB):c.9G>A (p.Ala3=)	PCCB	Single nucleotide variant (synonymous variant)	Propionic acidemia	GLikely benign
Select item 513608	NM_000532.5(PCCB):c.9G>C (p.Ala3=)	PCCB	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 1093946	NM_000532.5(PCCB):c.12A>G (p.Ala4=)	PCCB	Single nucleotide variant (synonymous variant)	Propionic acidemia	GLikely benign
Select item 1619316	NM_000532.5(PCCB):c.13T>C (p.Leu5=)	PCCB	Single nucleotide variant (synonymous variant)	Propionic acidemia	GLikely benign
Select item 556077	NM_000532.5(PCCB):c.14T>G (p.Leu5Ter)	PCCB (L5*)	Single nucleotide variant (nonsense)	Propionic acidemia	GPathogenic/Likely pathogenic
Select item 1969812	NM_000532.5(PCCB):c.16C>G (p.Arg6Gly)	PCCB (R6G)	Single nucleotide variant (missense variant)	Propionic acidemia	GUncertain significance
Select item 959596	NM_000532.5(PCCB):c.16C>T (p.Arg6Trp)	PCCB (R6W)	Single nucleotide variant (missense variant)	Propionic acidemia	GUncertain significance
Select item 2603315	NM_000532.5(PCCB):c.17G>A (p.Arg6Gln)	PCCB (R6Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1385936	NM_000532.5(PCCB):c.17G>T (p.Arg6Leu)	PCCB (R6L)	Single nucleotide variant (missense variant)	Propionic acidemia +1 more	GUncertain significance
Select item 2088849	NM_000532.5(PCCB):c.18G>A (p.Arg6=)	PCCB	Single nucleotide variant (synonymous variant)	Propionic acidemia	GLikely benign
Select item 1138088	NM_000532.5(PCCB):c.18G>T (p.Arg6=)	PCCB	Single nucleotide variant (synonymous variant)	Propionic acidemia	GLikely benign
Select item 1083943	NM_000532.5(PCCB):c.18G>C (p.Arg6=)	PCCB	Single nucleotide variant (synonymous variant)	Propionic acidemia	GLikely benign
Select item 2135200	NM_000532.5(PCCB):c.19G>T (p.Val7Leu)	PCCB (V7L)	Single nucleotide variant (missense variant)	Propionic acidemia	GUncertain significance
Select item 1551003	NM_000532.5(PCCB):c.21G>C (p.Val7=)	PCCB	Single nucleotide variant (synonymous variant)	Propionic acidemia	GLikely benign
Select item 1119179	NM_000532.5(PCCB):c.21G>A (p.Val7=)	PCCB	Single nucleotide variant (synonymous variant)	Propionic acidemia	GLikely benign
Select item 1005879	NM_000532.5(PCCB):c.23C>T (p.Ala8Val)	PCCB (A8V)	Single nucleotide variant (missense variant)	Propionic acidemia	GUncertain significance
Select item 2995330	NM_000532.5(PCCB):c.24G>A (p.Ala8=)	PCCB	Single nucleotide variant (synonymous variant)	Propionic acidemia	GLikely benign
Select item 390000	NM_000532.5(PCCB):c.24G>T (p.Ala8=)	PCCB	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 2918753	NM_000532.5(PCCB):c.27G>T (p.Ala9=)	PCCB	Single nucleotide variant (synonymous variant)	Propionic acidemia	GLikely benign
Select item 1645582	NM_000532.5(PCCB):c.27G>C (p.Ala9=)	PCCB	Single nucleotide variant (synonymous variant)	Propionic acidemia	GLikely benign
Select item 1113799	NM_000532.5(PCCB):c.27G>A (p.Ala9=)	PCCB	Single nucleotide variant (synonymous variant)	Propionic acidemia	GLikely benign
Select item 1561321	NM_000532.5(PCCB):c.30C>G (p.Val10=)	PCCB	Single nucleotide variant (synonymous variant)	Propionic acidemia	GLikely benign
Select item 1124277	NM_000532.5(PCCB):c.30C>T (p.Val10=)	PCCB	Single nucleotide variant (synonymous variant)	Propionic acidemia	GLikely benign
Select item 1111711	NM_000532.5(PCCB):c.30C>A (p.Val10=)	PCCB	Single nucleotide variant (synonymous variant)	Propionic acidemia	GLikely benign
Select item 1442508	NM_000532.5(PCCB):c.31G>C (p.Gly11Arg)	PCCB (G11R)	Single nucleotide variant (missense variant)	Propionic acidemia	GUncertain significance
Select item 2149864	NM_000532.5(PCCB):c.34G>A (p.Ala12Thr)	PCCB (A12T)	Single nucleotide variant (missense variant)	Propionic acidemia	GUncertain significance
Select item 1031611	NM_000532.5(PCCB):c.35C>A (p.Ala12Glu)	PCCB (A12E)	Single nucleotide variant (missense variant)	Propionic acidemia	GUncertain significance
Select item 967851	NM_000532.5(PCCB):c.38G>A (p.Arg13Lys)	PCCB (R13K)	Single nucleotide variant (missense variant)	Propionic acidemia	GUncertain significance
Select item 3364616	NM_000532.5(PCCB):c.39G>T (p.Arg13Ser)	PCCB (R13S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2746099	NM_000532.5(PCCB):c.39G>A (p.Arg13=)	PCCB	Single nucleotide variant (synonymous variant)	Propionic acidemia	GLikely benign
Select item 1937854	NM_000532.5(PCCB):c.40C>A (p.Leu14Ile)	PCCB (L14I)	Single nucleotide variant (missense variant)	Propionic acidemia	GUncertain significance
Select item 1487099	NM_000532.5(PCCB):c.40C>T (p.Leu14Phe)	PCCB (L14F)	Single nucleotide variant (missense variant)	Propionic acidemia	GUncertain significance
Select item 2715174	NM_000532.5(PCCB):c.42C>G (p.Leu14=)	PCCB	Single nucleotide variant (synonymous variant)	Propionic acidemia	GLikely benign
Select item 1091307	NM_000532.5(PCCB):c.42C>T (p.Leu14=)	PCCB	Single nucleotide variant (synonymous variant)	Propionic acidemia	GLikely benign
Select item 343456	NM_000532.5(PCCB):c.45C>T (p.Ser15=)	PCCB	Single nucleotide variant (synonymous variant)	Propionic acidemia	GConflicting classifications of pathogenicity
Select item 656449	NM_000532.5(PCCB):c.46G>T (p.Val16Phe)	PCCB (V16F)	Single nucleotide variant (missense variant)	Propionic acidemia	GUncertain significance
Select item 667547	NM_000532.5(PCCB):c.48T>C (p.Val16=)	PCCB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1155915	NM_000532.5(PCCB):c.49C>T (p.Leu17=)	PCCB	Single nucleotide variant (synonymous variant)	Propionic acidemia	GLikely benign
Select item 203883	NM_000532.5(PCCB):c.49C>A (p.Leu17Met)	PCCB (L17M)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1726884	NM_000532.5(PCCB):c.52del (p.Ala18fs)	PCCB (A18fs)	Deletion (frameshift variant)	Propionic acidemia	GLikely pathogenic
Select item 1597219	NM_000532.5(PCCB):c.51G>A (p.Leu17=)	PCCB	Single nucleotide variant (synonymous variant)	Propionic acidemia	GLikely benign
Select item 2142774	NM_000532.5(PCCB):c.53C>T (p.Ala18Val)	PCCB (A18V)	Single nucleotide variant (missense variant)	Propionic acidemia	GUncertain significance
Select item 1450752	NM_000532.5(PCCB):c.53C>G (p.Ala18Gly)	PCCB (A18G)	Single nucleotide variant (missense variant)	Propionic acidemia	GUncertain significance
Select item 1534969	NM_000532.5(PCCB):c.54G>A (p.Ala18=)	PCCB	Single nucleotide variant (synonymous variant)	Propionic acidemia	GLikely benign
Select item 1629062	NM_000532.5(PCCB):c.57C>T (p.Ser19=)	PCCB	Single nucleotide variant (synonymous variant)	Propionic acidemia	GLikely benign
Select item 1961739	NM_000532.5(PCCB):c.58G>T (p.Gly20Cys)	PCCB (G20C)	Single nucleotide variant (missense variant)	Propionic acidemia	GUncertain significance
Select item 1442156	NM_000532.5(PCCB):c.58G>A (p.Gly20Ser)	PCCB (G20S)	Single nucleotide variant (missense variant)	Propionic acidemia	GUncertain significance
Select item 2859484	NM_000532.5(PCCB):c.59_60del (p.Gly20fs)	PCCB (G20fs)	Deletion (frameshift variant)	Propionic acidemia	GPathogenic
Select item 1642931	NM_000532.5(PCCB):c.63C>G (p.Leu21=)	PCCB	Single nucleotide variant (synonymous variant)	Propionic acidemia	GLikely benign
Select item 1923282	NM_000532.5(PCCB):c.64C>T (p.Arg22Cys)	PCCB (R22C)	Single nucleotide variant (missense variant)	Propionic acidemia	GUncertain significance
Select item 743185	NM_000532.5(PCCB):c.66C>G (p.Arg22=)	PCCB	Single nucleotide variant (synonymous variant)	Propionic acidemia +1 more	GLikely benign
Select item 1357368	NM_000532.5(PCCB):c.67G>A (p.Ala23Thr)	PCCB (A23T)	Single nucleotide variant (missense variant)	Propionic acidemia	GUncertain significance
Select item 1982505	NM_000532.5(PCCB):c.68C>T (p.Ala23Val)	PCCB (A23V)	Single nucleotide variant (missense variant)	Propionic acidemia	GUncertain significance
Select item 2864876	NM_000532.5(PCCB):c.69C>G (p.Ala23=)	PCCB	Single nucleotide variant (synonymous variant)	Propionic acidemia	GLikely benign
Select item 1998676	NM_000532.5(PCCB):c.69C>T (p.Ala23=)	PCCB	Single nucleotide variant (synonymous variant)	Propionic acidemia	GLikely benign
Select item 1437270	NM_000532.5(PCCB):c.72G>A (p.Ala24=)	PCCB	Single nucleotide variant (synonymous variant)	Propionic acidemia	GLikely benign
Select item 1090545	NM_000532.5(PCCB):c.72G>T (p.Ala24=)	PCCB	Single nucleotide variant (synonymous variant)	Propionic acidemia	GLikely benign
Select item 2171971	NM_000532.5(PCCB):c.73G>A (p.Val25Ile)	PCCB (V25I)	Single nucleotide variant (missense variant)	Propionic acidemia	GUncertain significance
Select item 944298	NM_000532.5(PCCB):c.76dup (p.Arg26fs)	PCCB (R26fs)	Duplication (frameshift variant)	Propionic acidemia	GPathogenic
Select item 1093186	NM_000532.5(PCCB):c.75C>T (p.Val25=)	PCCB	Single nucleotide variant (synonymous variant)	Propionic acidemia	GLikely benign
Select item 1995198	NM_000532.5(PCCB):c.77_183+30delinsCC	PCCB	Indel (splice donor variant)	Propionic acidemia	GLikely pathogenic

<< First< Prev

Page of 12