"PreventionGenetics, part of Exact Sciences"[submitter] AND "KRTCAP3"[ - ClinVar

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

Search results

Items: 25

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3058325	NM_015662.3(IFT172):c.5137A>G (p.Asn1713Asp)	IFT172, KRTCAP3 (N1691D +1 more)	Single nucleotide variant (missense variant +1 more)	IFT172-related disorder	GUncertain significance
Select item 1007656	NM_015662.3(IFT172):c.5128G>A (p.Asp1710Asn)	IFT172, KRTCAP3 (D1710N +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +3 more	GUncertain significance
Select item 1120654	NM_015662.3(IFT172):c.5124C>A (p.Asn1708Lys)	KRTCAP3, IFT172 (N1708K +1 more)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome 20 +3 more	GLikely benign
Select item 2185530	NM_015662.3(IFT172):c.5093T>C (p.Ile1698Thr)	IFT172, KRTCAP3 (I1676T +1 more)	Single nucleotide variant (missense variant +1 more)	Short-rib thoracic dysplasia 10 with or without polydactyly +2 more	GUncertain significance
Select item 1044431	NM_015662.3(IFT172):c.5069-3C>T	IFT172, KRTCAP3	Single nucleotide variant (intron variant)	IFT172-related disorder +3 more	GConflicting classifications of pathogenicity
Select item 1002877	NM_015662.3(IFT172):c.5068G>C (p.Gly1690Arg)	KRTCAP3, IFT172 (G1690R +1 more)	Single nucleotide variant (missense variant +1 more)	IFT172-related disorder +2 more	GUncertain significance
Select item 1461096	NM_015662.3(IFT172):c.5053C>T (p.Pro1685Ser)	IFT172, KRTCAP3 (P1685S +1 more)	Single nucleotide variant (missense variant +1 more)	Retinitis pigmentosa 71 +2 more	GUncertain significance
Select item 1054216	NM_015662.3(IFT172):c.5000G>A (p.Arg1667His)	IFT172, KRTCAP3 (R1667H +1 more)	Single nucleotide variant (missense variant +1 more)	IFT172-related disorder +2 more	GUncertain significance
Select item 1036252	NM_015662.3(IFT172):c.4996G>A (p.Glu1666Lys)	IFT172, KRTCAP3 (E1666K +1 more)	Single nucleotide variant (missense variant +1 more)	Short-rib thoracic dysplasia 10 with or without polydactyly +4 more	GUncertain significance
Select item 1379644	NM_015662.3(IFT172):c.4981G>A (p.Val1661Ile)	IFT172, KRTCAP3 (V1661I +1 more)	Single nucleotide variant (missense variant +1 more)	Retinitis pigmentosa 71 +2 more	GUncertain significance
Select item 2634421	NM_015662.3(IFT172):c.4964A>G (p.Asp1655Gly)	IFT172, KRTCAP3 (D1633G +1 more)	Single nucleotide variant (missense variant +1 more)	IFT172-related disorder	GUncertain significance
Select item 843644	NM_015662.3(IFT172):c.4960A>G (p.Met1654Val)	IFT172, KRTCAP3 (M1654V +1 more)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome 20 +3 more	GConflicting classifications of pathogenicity
Select item 2629012	NM_015662.3(IFT172):c.4934T>C (p.Val1645Ala)	IFT172, KRTCAP3 (V1623A +1 more)	Single nucleotide variant (missense variant +1 more)	IFT172-related disorder	GUncertain significance
Select item 772582	NM_015662.3(IFT172):c.4933G>A (p.Val1645Ile)	IFT172, KRTCAP3 (V1645I +1 more)	Single nucleotide variant (missense variant +1 more)	Retinitis pigmentosa 71 +3 more	GBenign/Likely benign
Select item 1408653	NM_015662.3(IFT172):c.4909G>A (p.Val1637Ile)	IFT172, KRTCAP3 (V1637I +1 more)	Single nucleotide variant (missense variant +1 more)	Retinitis pigmentosa 71 +3 more	GUncertain significance
Select item 1593945	NM_015662.3(IFT172):c.4893C>A (p.Leu1631=)	KRTCAP3, IFT172	Single nucleotide variant (synonymous variant +1 more)	IFT172-related disorder +2 more	GLikely benign
Select item 1036167	NM_015662.3(IFT172):c.4867A>G (p.Thr1623Ala)	IFT172, KRTCAP3 (T1623A +1 more)	Single nucleotide variant (missense variant +1 more)	Short-rib thoracic dysplasia 10 with or without polydactyly +3 more	GUncertain significance
Select item 3030898	NM_015662.3(IFT172):c.4819A>G (p.Ile1607Val)	IFT172, KRTCAP3 (I1585V +1 more)	Single nucleotide variant (missense variant +1 more)	IFT172-related disorder	GUncertain significance
Select item 1595311	NM_015662.3(IFT172):c.4816-6C>T	IFT172, KRTCAP3	Single nucleotide variant (intron variant)	IFT172-related disorder +2 more	GLikely benign
Select item 1101378	NM_015662.3(IFT172):c.4816-8T>C	IFT172, KRTCAP3	Single nucleotide variant (intron variant)	IFT172-related disorder +2 more	GLikely benign
Select item 772893	NM_015662.3(IFT172):c.4795C>T (p.Arg1599Cys)	IFT172, KRTCAP3 (R1599C +1 more)	Single nucleotide variant (missense variant +1 more)	Retinitis pigmentosa 71 +4 more	GConflicting classifications of pathogenicity
Select item 3040017	NM_015662.3(IFT172):c.4696C>T (p.Arg1566Cys)	IFT172, KRTCAP3 (R1544C +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	IFT172-related disorder	GUncertain significance
Select item 2179214	NM_015662.3(IFT172):c.4692C>T (p.Leu1564=)	IFT172, KRTCAP3	Single nucleotide variant (3 prime UTR variant +1 more)	Short-rib thoracic dysplasia 10 with or without polydactyly +2 more	GLikely benign
Select item 1658066	NM_015662.3(IFT172):c.4689A>G (p.Ser1563=)	KRTCAP3, IFT172	Single nucleotide variant (3 prime UTR variant +1 more)	Short-rib thoracic dysplasia 10 with or without polydactyly +2 more	GLikely benign
Select item 451341	NM_015662.3(IFT172):c.4666G>A (p.Val1556Met)	KRTCAP3, IFT172 (V1556M +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Retinitis pigmentosa 71 +4 more	GConflicting classifications of pathogenicity

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 25