"Counsyl"[submitter] AND "VPS13B"[gene] - ClinVar - NCBI

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

Search results

Items: 1 to 100 of 293

<< First< Prev

Page of 3

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 551601	NM_152564.5(VPS13B):c.107delinsAA (p.Val36fs)	VPS13B (V36fs)	Indel (frameshift variant +1 more)	Cohen syndrome	GLikely pathogenic
Select item 371129	NM_152564.5(VPS13B):c.147+1G>A	VPS13B	Single nucleotide variant (splice donor variant)	Cohen syndrome	GLikely pathogenic
Select item 370906	NM_152564.5(VPS13B):c.291+1G>A	VPS13B	Single nucleotide variant (splice donor variant)	Cohen syndrome	GLikely pathogenic
Select item 56656	NM_152564.5(VPS13B):c.292-2A>G	VPS13B	Single nucleotide variant (splice acceptor variant)	Cohen syndrome	GLikely pathogenic
Select item 370352	NM_152564.5(VPS13B):c.376C>T (p.Gln126Ter)	VPS13B (Q126*)	Single nucleotide variant (nonsense +1 more)	Cohen syndrome	GLikely pathogenic
Select item 371467	NM_152564.5(VPS13B):c.412+1G>A	VPS13B	Single nucleotide variant (splice donor variant)	Cohen syndrome	GLikely pathogenic
Select item 371191	NM_152564.5(VPS13B):c.424_425del (p.Leu143fs)	VPS13B (L143fs)	Microsatellite (frameshift variant +1 more)	Cohen syndrome	GPathogenic/Likely pathogenic
Select item 370440	NM_152564.5(VPS13B):c.436C>T (p.Arg146Ter)	VPS13B (R146*)	Single nucleotide variant (nonsense +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 554080	NM_152564.5(VPS13B):c.795_798del (p.Ile266fs)	VPS13B (I266fs)	Deletion (frameshift variant +1 more)	Cohen syndrome	GPathogenic/Likely pathogenic
Select item 550323	NM_152564.5(VPS13B):c.803del (p.Asp268fs)	VPS13B (D268fs)	Deletion (frameshift variant +1 more)	Cohen syndrome	GLikely pathogenic
Select item 554867	NM_152564.5(VPS13B):c.889del (p.Glu296_Ile297insTer)	VPS13B	Deletion (nonsense +1 more)	Cohen syndrome	GLikely pathogenic
Select item 370733	NM_152564.5(VPS13B):c.901_904del (p.Thr301fs)	VPS13B (T301fs)	Deletion (frameshift variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 370218	NM_152564.5(VPS13B):c.1001del (p.Tyr334fs)	VPS13B (Y334fs)	Deletion (frameshift variant +1 more)	Cohen syndrome	GPathogenic/Likely pathogenic
Select item 552572	NM_152564.5(VPS13B):c.1006C>T (p.Gln336Ter)	VPS13B (Q336*)	Single nucleotide variant (nonsense +1 more)	Cohen syndrome	GLikely pathogenic
Select item 557706	NM_152564.5(VPS13B):c.1027C>T (p.Gln343Ter)	VPS13B (Q343*)	Single nucleotide variant (nonsense +1 more)	Cohen syndrome	GLikely pathogenic
Select item 371057	NM_152564.5(VPS13B):c.1040del (p.Ser347fs)	VPS13B (S347fs)	Deletion (frameshift variant +1 more)	Cohen syndrome	GLikely pathogenic
Select item 557318	NM_152564.5(VPS13B):c.1071_1074del (p.Ser358fs)	VPS13B (S358fs)	Deletion (frameshift variant +1 more)	Cohen syndrome	GLikely pathogenic
Select item 370153	NM_152564.5(VPS13B):c.1079_1080delinsG (p.Asp360fs)	VPS13B (D360fs)	Indel (frameshift variant +1 more)	Cohen syndrome	GLikely pathogenic
Select item 552240	NM_152564.5(VPS13B):c.1150A>T (p.Lys384Ter)	VPS13B (K384*)	Single nucleotide variant (nonsense +1 more)	Cohen syndrome	GPathogenic/Likely pathogenic
Select item 557207	NM_152564.5(VPS13B):c.1187del (p.Lys396fs)	VPS13B (K396fs)	Deletion (frameshift variant +1 more)	Cohen syndrome	GLikely pathogenic
Select item 550597	NM_152564.5(VPS13B):c.1206+19_1206+34del	VPS13B (C409fs)	Deletion (frameshift variant +2 more)	VPS13B-related condition +1 more	GBenign/Likely benign
Select item 554054	NM_152564.5(VPS13B):c.1206+23T>A	VPS13B (L410*)	Single nucleotide variant (nonsense +2 more)	Cohen syndrome	GLikely benign
Select item 555438	NM_152564.5(VPS13B):c.1206+40T>C	VPS13B	Single nucleotide variant (stop lost +2 more)	Cohen syndrome	GUncertain significance
Select item 551724	NM_152564.5(VPS13B):c.1261_1272del (p.Lys421_Leu424del)	VPS13B	Deletion (inframe_deletion)	Cohen syndrome	GUncertain significance
Select item 551111	NM_152564.5(VPS13B):c.1302+2dup	VPS13B	Duplication (splice donor variant)	Cohen syndrome	GUncertain significance
Select item 558671	NM_152564.5(VPS13B):c.1303-1G>C	VPS13B	Single nucleotide variant (splice acceptor variant)	Cohen syndrome	GLikely pathogenic
Select item 551135	NM_152564.5(VPS13B):c.1306del (p.Leu436_Met437insTer)	VPS13B	Deletion (frameshift variant)	Cohen syndrome	GPathogenic/Likely pathogenic
Select item 371496	NM_152564.5(VPS13B):c.1495_1498del (p.Phe499fs)	VPS13B (F499fs)	Deletion (frameshift variant)	Cohen syndrome	GLikely pathogenic
Select item 370991	NM_152564.5(VPS13B):c.1563+1G>A	VPS13B	Single nucleotide variant (splice donor variant)	Cohen syndrome	GLikely pathogenic
Select item 371318	NM_152564.5(VPS13B):c.1664_1671del (p.Gln555fs)	VPS13B (Q555fs)	Deletion (frameshift variant)	Cohen syndrome	GPathogenic/Likely pathogenic
Select item 371451	NM_152564.5(VPS13B):c.1669del (p.Asp557fs)	VPS13B (D557fs)	Deletion (frameshift variant)	Cohen syndrome	GLikely pathogenic
Select item 95836	NM_152564.5(VPS13B):c.1864A>G (p.Thr622Ala)	VPS13B (T622A)	Single nucleotide variant (missense variant)	Cohen syndrome +4 more	GUncertain significance
Select item 265334	NM_152564.5(VPS13B):c.1915C>T (p.Arg639Ter)	VPS13B (R639*)	Single nucleotide variant (nonsense)	Cohen syndrome +1 more	GPathogenic/Likely pathogenic
Select item 371523	NM_152564.5(VPS13B):c.2011_2015del (p.Lys671fs)	VPS13B (K671fs)	Deletion (frameshift variant)	Cohen syndrome	GLikely pathogenic
Select item 555506	NM_152564.5(VPS13B):c.2034TAC[1] (p.Thr680del)	VPS13B (T680del)	Microsatellite (inframe_deletion)	Cohen syndrome	GUncertain significance
Select item 95837	NM_152564.5(VPS13B):c.2124T>C (p.Ala708=)	VPS13B	Single nucleotide variant (synonymous variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 369684	NM_152564.5(VPS13B):c.2158C>T (p.Gln720Ter)	VPS13B (Q720*)	Single nucleotide variant (nonsense)	Cohen syndrome	GPathogenic/Likely pathogenic
Select item 370495	NM_152564.5(VPS13B):c.2268del (p.Val757fs)	VPS13B (V757fs)	Deletion (frameshift variant)	Cohen syndrome	GLikely pathogenic
Select item 550319	NM_152564.5(VPS13B):c.2333+2T>C	VPS13B	Single nucleotide variant (splice donor variant)	Cohen syndrome	GLikely pathogenic
Select item 551163	NM_152564.5(VPS13B):c.2334-2A>G	VPS13B	Single nucleotide variant (splice acceptor variant)	Cohen syndrome	GLikely pathogenic
Select item 370680	NM_152564.5(VPS13B):c.2341A>T (p.Arg781Ter)	VPS13B (R781*)	Single nucleotide variant (nonsense)	Cohen syndrome	GLikely pathogenic
Select item 554360	NM_152564.5(VPS13B):c.2362G>T (p.Glu788Ter)	VPS13B (E788*)	Single nucleotide variant (nonsense)	Cohen syndrome	GLikely pathogenic
Select item 556374	NM_152564.5(VPS13B):c.2515+16596_2515+16608del	VPS13B (T860fs)	Deletion (frameshift variant +1 more)	Cohen syndrome	GLikely benign
Select item 553616	NM_152564.5(VPS13B):c.2515+16609T>G	VPS13B	Single nucleotide variant (stop lost +1 more)	Cohen syndrome	GLikely benign
Select item 120656	NM_152564.5(VPS13B):c.2515+37177T>C	VPS13B	Single nucleotide variant (intron variant)	Cohen syndrome	GLikely benign
Select item 556013	NM_152564.5(VPS13B):c.2516-2A>G	VPS13B	Single nucleotide variant (splice acceptor variant)	Cohen syndrome	GLikely pathogenic
Select item 552119	NM_152564.5(VPS13B):c.2552_2559del (p.Gly851fs)	VPS13B (G851fs)	Deletion (frameshift variant)	Cohen syndrome	GLikely pathogenic
Select item 553114	NM_152564.5(VPS13B):c.2579_2584dup (p.Cys861_Ser862insAsnCys)	VPS13B	Duplication (inframe_insertion)	Cohen syndrome	GUncertain significance
Select item 557716	NM_152564.5(VPS13B):c.2650+1G>A	VPS13B	Single nucleotide variant (splice donor variant)	Cohen syndrome	GLikely pathogenic
Select item 95841	NM_152564.5(VPS13B):c.2651-10T>G	VPS13B	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 554447	NM_152564.5(VPS13B):c.2691_2692delinsAAT (p.Pro898fs)	VPS13B (P898fs)	Indel (frameshift variant)	Cohen syndrome	GLikely pathogenic
Select item 371417	NM_152564.5(VPS13B):c.2816delinsCC (p.His939fs)	VPS13B (H939fs)	Indel (frameshift variant)	Cohen syndrome	GLikely pathogenic
Select item 370331	NM_152564.5(VPS13B):c.2824+2T>C	VPS13B	Single nucleotide variant (splice donor variant)	Cohen syndrome	GLikely pathogenic
Select item 554355	NM_152564.5(VPS13B):c.2828del (p.Ala943fs)	VPS13B (A943fs)	Deletion (frameshift variant)	Cohen syndrome	GLikely pathogenic
Select item 551787	NM_152564.5(VPS13B):c.2855del (p.Leu952fs)	VPS13B (L952fs)	Deletion (frameshift variant)	Cohen syndrome	GLikely pathogenic
Select item 56655	NM_152564.5(VPS13B):c.2889G>A (p.Trp963Ter)	VPS13B (W963*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 56657	NM_152564.5(VPS13B):c.2934+1_2934+2del	VPS13B	Deletion (splice donor variant)	Cohen syndrome +1 more	GPathogenic/Likely pathogenic
Select item 120658	NM_152564.5(VPS13B):c.2935-4C>T	VPS13B	Single nucleotide variant (intron variant)	Cohen syndrome	GConflicting classifications of pathogenicity
Select item 550227	NM_152564.5(VPS13B):c.3020del (p.Lys1007fs)	VPS13B (K1007fs)	Deletion (frameshift variant)	Cohen syndrome	GLikely pathogenic
Select item 370665	NM_152564.5(VPS13B):c.3027_3045dup (p.Tyr1016delinsIleIleSerGlyLeuTer)	VPS13B	Duplication (nonsense)	Cohen syndrome	GPathogenic/Likely pathogenic
Select item 370875	NM_152564.5(VPS13B):c.3072_3073delinsT (p.Lys1024fs)	VPS13B (K1024fs)	Indel (frameshift variant)	Cohen syndrome	GLikely pathogenic
Select item 556973	NM_152564.5(VPS13B):c.3082+2T>C	VPS13B	Single nucleotide variant (splice donor variant)	Cohen syndrome	GLikely pathogenic
Select item 555595	NM_152564.5(VPS13B):c.3083-2A>C	VPS13B	Single nucleotide variant (splice acceptor variant)	Cohen syndrome	GLikely pathogenic
Select item 555006	NM_152564.5(VPS13B):c.3096del (p.Leu1032fs)	VPS13B (L1032fs)	Deletion (frameshift variant)	Cohen syndrome	GLikely pathogenic
Select item 370995	NM_152564.5(VPS13B):c.3104del (p.Pro1035fs)	VPS13B (P1035fs)	Deletion (frameshift variant)	Cohen syndrome	GLikely pathogenic
Select item 371660	NM_152564.5(VPS13B):c.3133del (p.Ser1045fs)	VPS13B (S1045fs)	Deletion (frameshift variant)	Cohen syndrome	GLikely pathogenic
Select item 370978	NM_152564.5(VPS13B):c.3240del (p.Pro1081fs)	VPS13B (P1081fs)	Deletion (frameshift variant)	Cohen syndrome	GConflicting classifications of pathogenicity
Select item 555754	NM_152564.5(VPS13B):c.3349dup (p.Cys1117fs)	VPS13B (C1117fs)	Duplication (frameshift variant)	Cohen syndrome	GLikely pathogenic
Select item 556794	NM_152564.5(VPS13B):c.3402_3437del (p.Gln1135_Leu1146del)	VPS13B	Deletion (inframe_deletion)	Cohen syndrome	GUncertain significance
Select item 56658	NM_152564.5(VPS13B):c.3427C>T (p.Arg1143Ter)	VPS13B (R1143*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 554000	NM_152564.5(VPS13B):c.3445+1G>T	VPS13B	Single nucleotide variant (splice donor variant)	Cohen syndrome	GLikely pathogenic
Select item 555636	NM_152564.5(VPS13B):c.3503delinsAAAA (p.Gly1168delinsGluLys)	VPS13B	Indel (inframe_indel)	Cohen syndrome	GUncertain significance
Select item 370216	NM_017890.4:c.3542_3543ins5	VPS13B	Insertion	Cohen syndrome	GLikely pathogenic
Select item 552169	NM_152564.5(VPS13B):c.3666+1G>T	VPS13B	Single nucleotide variant (splice donor variant)	Cohen syndrome	GLikely pathogenic
Select item 556529	NM_152564.5(VPS13B):c.3666+2T>A	VPS13B	Single nucleotide variant (splice donor variant)	Cohen syndrome	GLikely pathogenic
Select item 551461	NM_152564.5(VPS13B):c.3667-1G>A	VPS13B	Single nucleotide variant (splice acceptor variant)	Cohen syndrome	GLikely pathogenic
Select item 553016	NM_152564.5(VPS13B):c.3686dup (p.Thr1230fs)	VPS13B (T1230fs)	Duplication (frameshift variant)	Cohen syndrome	GLikely pathogenic
Select item 95850	NM_152564.5(VPS13B):c.3751A>T (p.Thr1251Ser)	VPS13B (T1251S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 555869	NM_152564.5(VPS13B):c.3782del (p.Pro1261fs)	VPS13B (P1261fs)	Deletion (frameshift variant)	Cohen syndrome	GPathogenic/Likely pathogenic
Select item 370645	NM_152564.5(VPS13B):c.3902dup (p.Phe1302fs)	VPS13B (F1302fs)	Duplication (frameshift variant)	Cohen syndrome	GPathogenic/Likely pathogenic
Select item 553538	NM_152564.5(VPS13B):c.4042+2T>C	VPS13B	Single nucleotide variant (splice donor variant)	Cohen syndrome	GLikely pathogenic
Select item 557299	NM_152564.5(VPS13B):c.4158-16A>C	VPS13B	Single nucleotide variant (intron variant)	Cohen syndrome	GLikely benign
Select item 557016	NM_152564.5(VPS13B):c.4158G>A (p.Arg1386=)	VPS13B	Single nucleotide variant (synonymous variant +1 more)	Cohen syndrome	GLikely benign
Select item 555635	NM_152564.5(VPS13B):c.4159C>A (p.Pro1387Thr)	VPS13B (P1387T)	Single nucleotide variant (missense variant +1 more)	Cohen syndrome	GUncertain significance
Select item 556426	NM_152564.5(VPS13B):c.4196T>C (p.Val1399Ala)	VPS13B (V1399A)	Single nucleotide variant (missense variant +1 more)	Cohen syndrome	GUncertain significance
Select item 557768	NM_152564.5(VPS13B):c.4218_4222dup (p.Val1408fs)	VPS13B (V1408fs)	Duplication (frameshift variant +1 more)	Cohen syndrome	GUncertain significance
Select item 556670	NM_152564.5(VPS13B):c.4224+1G>C	VPS13B	Single nucleotide variant (splice donor variant +1 more)	Cohen syndrome	GUncertain significance
Select item 555086	NM_152564.5(VPS13B):c.4224+6A>G	VPS13B	Single nucleotide variant (intron variant)	Cohen syndrome	GLikely benign
Select item 549905	NM_152564.5(VPS13B):c.4224+556A>G	VPS13B	Single nucleotide variant (intron variant)	Cohen syndrome	GConflicting classifications of pathogenicity
Select item 556245	NM_017890.5(VPS13B):c.4159_4160delinsAAG (p.Leu1387fs)	VPS13B (L1387fs)	Indel (frameshift variant +1 more)	Cohen syndrome	GUncertain significance
Select item 553132	NM_017890.5(VPS13B):c.4186C>T (p.Gln1396Ter)	VPS13B (Q1396*)	Single nucleotide variant (nonsense +1 more)	Cohen syndrome	GConflicting classifications of pathogenicity
Select item 557274	NM_017890.5(VPS13B):c.4188A>T (p.Gln1396His)	VPS13B (Q1396H)	Single nucleotide variant (missense variant +1 more)	Cohen syndrome	GUncertain significance
Select item 557683	NM_017890.5(VPS13B):c.4194A>T (p.Gly1398=)	VPS13B	Single nucleotide variant (synonymous variant +1 more)	Cohen syndrome	GLikely benign
Select item 556693	NM_017890.5(VPS13B):c.4196G>A (p.Gly1399Asp)	VPS13B (G1399D)	Single nucleotide variant (missense variant +1 more)	Cohen syndrome	GUncertain significance
Select item 558640	NM_017890.5(VPS13B):c.4215T>G (p.Thr1405=)	VPS13B	Single nucleotide variant (synonymous variant +1 more)	Cohen syndrome	GLikely benign
Select item 556247	NM_017890.5(VPS13B):c.4228_4231dup (p.Arg1411fs)	VPS13B (R1411fs)	Duplication (frameshift variant +1 more)	Cohen syndrome	GUncertain significance
Select item 557823	NM_017890.5(VPS13B):c.4235C>A (p.Thr1412Asn)	VPS13B (T1412N)	Single nucleotide variant (missense variant +1 more)	Cohen syndrome	GUncertain significance
Select item 371573	NM_017890.5(VPS13B):c.4238T>A (p.Leu1413Ter)	VPS13B (L1413*)	Single nucleotide variant (nonsense +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 489015	NM_017890.5(VPS13B):c.4246C>T (p.Arg1416Ter)	VPS13B (R1416*)	Single nucleotide variant (nonsense +1 more)	Cohen syndrome +2 more	GConflicting classifications of pathogenicity
Select item 558609	NM_017890.5(VPS13B):c.4248A>G (p.Arg1416=)	VPS13B	Single nucleotide variant (synonymous variant +1 more)	Cohen syndrome	GLikely benign

<< First< Prev

Page of 3