"PreventionGenetics, part of Exact Sciences"[submitter] AND "KIAA0586" - ClinVar

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Items: 53

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3049176	NM_001244189.2(KIAA0586):c.9+10T>C	KIAA0586	Single nucleotide variant (intron variant)	KIAA0586-related disorder	GUncertain significance
Select item 2103942	NM_001329943.3(KIAA0586):c.-31T>G	KIAA0586	Single nucleotide variant (5 prime UTR variant +1 more)	Joubert syndrome 23 +2 more	GLikely benign
Select item 772034	NM_001329943.3(KIAA0586):c.15G>C (p.Glu5Asp)	KIAA0586 (E5D +1 more)	Single nucleotide variant (missense variant +2 more)	Short-rib thoracic dysplasia 14 with polydactyly +3 more	GLikely benign
Select item 445497	NM_001329943.3(KIAA0586):c.94dup (p.His32fs)	KIAA0586 (H17fs +2 more)	Duplication (frameshift variant +1 more)	not provided +6 more	GConflicting classifications of pathogenicity
Select item 1396610	NM_001329943.3(KIAA0586):c.143C>T (p.Ser48Phe)	KIAA0586 (S60F +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +3 more	GUncertain significance
Select item 774106	NM_001329943.3(KIAA0586):c.182T>C (p.Leu61Ser)	KIAA0586 (L61S +2 more)	Single nucleotide variant (missense variant +1 more)	Short-rib thoracic dysplasia 14 with polydactyly +3 more	GConflicting classifications of pathogenicity
Select item 1538004	NM_001329943.3(KIAA0586):c.340+7G>T	KIAA0586	Single nucleotide variant (intron variant)	KIAA0586-related disorder +2 more	GLikely benign
Select item 1497515	NM_001329943.3(KIAA0586):c.367A>T (p.Thr123Ser)	KIAA0586 (T108S +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GUncertain significance
Select item 204593	NM_001329943.3(KIAA0586):c.392del (p.Arg131fs)	KIAA0586 (R131fs +3 more)	Deletion (frameshift variant)	Short-rib thoracic dysplasia 14 with polydactyly +6 more	GPathogenic/Likely pathogenic
Select item 3048739	NM_001329943.3(KIAA0586):c.411-1360G>A	KIAA0586	Single nucleotide variant (intron variant)	KIAA0586-related disorder	GLikely benign
Select item 3031663	NM_001329943.3(KIAA0586):c.411-1357T>C	KIAA0586	Single nucleotide variant (intron variant)	KIAA0586-related disorder	GLikely benign
Select item 770102	NM_001329943.3(KIAA0586):c.657A>G (p.Lys219=)	KIAA0586	Single nucleotide variant (synonymous variant)	Short-rib thoracic dysplasia 14 with polydactyly +2 more	GLikely benign
Select item 772504	NM_001329943.3(KIAA0586):c.698G>A (p.Arg233Lys)	KIAA0586 (R148K +5 more)	Single nucleotide variant (missense variant)	Short-rib thoracic dysplasia 14 with polydactyly +5 more	GConflicting classifications of pathogenicity
Select item 798228	NM_001329943.3(KIAA0586):c.750T>A (p.Phe250Leu)	KIAA0586 (F250L +5 more)	Single nucleotide variant (missense variant)	KIAA0586-related disorder +2 more	GLikely benign
Select item 723778	NM_001329943.3(KIAA0586):c.789A>G (p.Gln263=)	KIAA0586	Single nucleotide variant (synonymous variant)	KIAA0586-related disorder +2 more	GLikely benign
Select item 542191	NM_001329943.3(KIAA0586):c.974A>T (p.Glu325Val)	KIAA0586 (E325V +5 more)	Single nucleotide variant (missense variant)	KIAA0586-related disorder +4 more	GBenign/Likely benign
Select item 3032036	NM_001329943.3(KIAA0586):c.998A>G (p.Lys333Arg)	KIAA0586 (K193R +5 more)	Single nucleotide variant (missense variant)	KIAA0586-related disorder	GUncertain significance
Select item 204595	NM_001329943.3(KIAA0586):c.1000C>T (p.Gln334Ter)	KIAA0586 (Q387* +5 more)	Single nucleotide variant (nonsense)	Joubert syndrome 23 +2 more	GPathogenic
Select item 2637236	NM_001329943.3(KIAA0586):c.1196C>G (p.Ser399Ter)	KIAA0586 (S259* +5 more)	Single nucleotide variant (nonsense)	KIAA0586-related disorder	GLikely pathogenic
Select item 1603712	NM_001329943.3(KIAA0586):c.1656+4T>C	KIAA0586	Single nucleotide variant (intron variant)	Joubert syndrome 23 +2 more	GLikely benign
Select item 1538796	NM_001329943.3(KIAA0586):c.1785A>T (p.Val595=)	KIAA0586	Single nucleotide variant (synonymous variant +1 more)	KIAA0586-related disorder +2 more	GLikely benign
Select item 2629964	NM_001329943.3(KIAA0586):c.1909del (p.Ile637fs)	KIAA0586 (I497fs +6 more)	Deletion (frameshift variant)	KIAA0586-related disorder	GPathogenic
Select item 1588038	NM_001329943.3(KIAA0586):c.2028A>G (p.Pro676=)	KIAA0586	Single nucleotide variant (synonymous variant)	Joubert syndrome 23 +2 more	GLikely benign
Select item 3030814	NM_001329943.3(KIAA0586):c.2373A>G (p.Val791=)	KIAA0586	Single nucleotide variant (synonymous variant)	KIAA0586-related disorder	GLikely benign
Select item 1082184	NM_001329943.3(KIAA0586):c.2554-9C>T	KIAA0586	Single nucleotide variant (intron variant)	KIAA0586-related disorder +2 more	GLikely benign
Select item 3061126	NM_001329943.3(KIAA0586):c.2690G>C (p.Arg897Thr)	KIAA0586 (R757T +6 more)	Single nucleotide variant (missense variant)	KIAA0586-related disorder	GUncertain significance
Select item 475444	NM_001329943.3(KIAA0586):c.2735C>T (p.Pro912Leu)	KIAA0586 (P836L +6 more)	Single nucleotide variant (missense variant)	KIAA0586-related disorder +3 more	GBenign/Likely benign
Select item 1578071	NM_001329943.3(KIAA0586):c.2856C>T (p.Ile952=)	KIAA0586	Single nucleotide variant (synonymous variant)	Joubert syndrome 23 +2 more	GLikely benign
Select item 1601554	NM_001329943.3(KIAA0586):c.2944+8A>C	KIAA0586	Single nucleotide variant (intron variant)	Joubert syndrome 23 +2 more	GBenign/Likely benign
Select item 3041742	NM_001329943.3(KIAA0586):c.2945-10_2945-9del	KIAA0586	Deletion (intron variant)	KIAA0586-related disorder	GLikely benign
Select item 475447	NM_001329943.3(KIAA0586):c.3104G>A (p.Gly1035Asp)	KIAA0586 (G1088D +6 more)	Single nucleotide variant (missense variant)	KIAA0586-related disorder +3 more	GBenign
Select item 3033625	NM_001329943.3(KIAA0586):c.3114G>C (p.Gly1038=)	KIAA0586	Single nucleotide variant (synonymous variant)	KIAA0586-related disorder	GLikely benign
Select item 709292	NM_001329943.3(KIAA0586):c.3165G>A (p.Leu1055=)	KIAA0586	Single nucleotide variant (synonymous variant)	KIAA0586-related disorder +1 more	GBenign/Likely benign
Select item 435568	NM_001329943.3(KIAA0586):c.3283A>C (p.Lys1095Gln)	KIAA0586 (K1019Q +6 more)	Single nucleotide variant (missense variant)	KIAA0586-related disorder +4 more	GBenign/Likely benign
Select item 766938	NM_001329943.3(KIAA0586):c.3553G>A (p.Glu1185Lys)	KIAA0586 (E1045K +6 more)	Single nucleotide variant (missense variant)	Short-rib thoracic dysplasia 14 with polydactyly +3 more	GLikely benign
Select item 542190	NM_001329943.3(KIAA0586):c.3663T>G (p.Ser1221=)	KIAA0586	Single nucleotide variant (synonymous variant)	KIAA0586-related disorder +3 more	GConflicting classifications of pathogenicity
Select item 1169975	NM_001329943.3(KIAA0586):c.3774C>G (p.Ala1258=)	KIAA0586	Single nucleotide variant (synonymous variant)	KIAA0586-related disorder +2 more	GBenign/Likely benign
Select item 2922646	NM_001329943.3(KIAA0586):c.3777C>T (p.Pro1259=)	KIAA0586	Single nucleotide variant (synonymous variant)	Joubert syndrome 23 +2 more	GLikely benign
Select item 2928224	NM_001329943.3(KIAA0586):c.3786A>G (p.Leu1262=)	KIAA0586	Single nucleotide variant (synonymous variant)	Joubert syndrome 23 +2 more	GLikely benign
Select item 1114799	NM_001329943.3(KIAA0586):c.3858+10G>A	KIAA0586	Single nucleotide variant (intron variant)	KIAA0586-related disorder +2 more	GLikely benign
Select item 767103	NM_001329943.3(KIAA0586):c.3861G>A (p.Glu1287=)	KIAA0586	Single nucleotide variant (synonymous variant +1 more)	Short-rib thoracic dysplasia 14 with polydactyly +2 more	GLikely benign
Select item 771823	NM_001329943.3(KIAA0586):c.3862G>A (p.Asp1288Asn)	KIAA0586 (D1212N +6 more)	Single nucleotide variant (missense variant +1 more)	Short-rib thoracic dysplasia 14 with polydactyly +3 more	GConflicting classifications of pathogenicity
Select item 761469	NM_001329943.3(KIAA0586):c.3966C>T (p.Ser1322=)	KIAA0586	Single nucleotide variant (synonymous variant +1 more)	KIAA0586-related disorder +2 more	GLikely benign
Select item 772121	NM_001329943.3(KIAA0586):c.4125A>G (p.Gln1375=)	KIAA0586	Single nucleotide variant (synonymous variant)	Short-rib thoracic dysplasia 14 with polydactyly +3 more	GBenign/Likely benign
Select item 1492745	NM_001329943.3(KIAA0586):c.4286A>G (p.Asp1429Gly)	KIAA0586 (D1429G +6 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GUncertain significance
Select item 1626411	NM_001329943.3(KIAA0586):c.4311A>G (p.Glu1437=)	KIAA0586	Single nucleotide variant (synonymous variant)	KIAA0586-related disorder +2 more	GBenign/Likely benign
Select item 1045900	NM_001329943.3(KIAA0586):c.4315T>G (p.Phe1439Val)	KIAA0586 (F1395V +6 more)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 1326522	NM_001329943.3(KIAA0586):c.4325A>G (p.Tyr1442Cys)	KIAA0586 (Y1302C +6 more)	Single nucleotide variant (missense variant)	KIAA0586-related disorder +3 more	GConflicting classifications of pathogenicity
Select item 1595485	NM_001329943.3(KIAA0586):c.4473G>A (p.Pro1491=)	KIAA0586	Single nucleotide variant (synonymous variant +1 more)	Joubert syndrome 23 +2 more	GLikely benign
Select item 1166819	NM_001329943.3(KIAA0586):c.4495+3795T>C	KIAA0586 (L1515P +1 more)	Single nucleotide variant (missense variant +1 more)	KIAA0586-related disorder +3 more	GBenign
Select item 766846	NM_001329943.3(KIAA0586):c.4519G>A (p.Ala1507Thr)	KIAA0586 (A1422T +8 more)	Single nucleotide variant (missense variant)	Short-rib thoracic dysplasia 14 with polydactyly +3 more	GConflicting classifications of pathogenicity
Select item 707236	NM_001329943.3(KIAA0586):c.4629G>A (p.Ser1543=)	KIAA0586 (G1572R +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GBenign/Likely benign
Select item 1314223	NM_001329943.3(KIAA0586):c.*2C>T	KIAA0586	Single nucleotide variant (synonymous variant +1 more)	not provided +3 more	GLikely benign

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Items: 53