"PreventionGenetics, part of Exact Sciences"[submitter] AND "CLPTM1L"[ - ClinVar - NCBI

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Items: 19

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3047303	NM_030782.5(CLPTM1L):c.1611G>A (p.Thr537=)	CLPTM1L	Single nucleotide variant (synonymous variant)	CLPTM1L-related disorder	GLikely benign
Select item 3035456	NM_030782.5(CLPTM1L):c.1532+7G>A	CLPTM1L	Single nucleotide variant (intron variant)	CLPTM1L-related disorder	GLikely benign
Select item 3041255	NM_030782.5(CLPTM1L):c.1314C>T (p.Asn438=)	CLPTM1L	Single nucleotide variant (synonymous variant)	CLPTM1L-related disorder	GBenign
Select item 3045755	NM_030782.5(CLPTM1L):c.1281-8C>T	CLPTM1L	Single nucleotide variant (intron variant)	CLPTM1L-related disorder	GLikely benign
Select item 3052632	NM_030782.5(CLPTM1L):c.1138G>A (p.Glu380Lys)	CLPTM1L (E380K)	Single nucleotide variant (missense variant)	CLPTM1L-related disorder	GBenign
Select item 3036430	NM_030782.5(CLPTM1L):c.1092G>C (p.Val364=)	CLPTM1L	Single nucleotide variant (synonymous variant)	CLPTM1L-related disorder	GLikely benign
Select item 3044441	NM_030782.5(CLPTM1L):c.1080+9C>T	CLPTM1L	Single nucleotide variant (intron variant)	CLPTM1L-related disorder	GLikely benign
Select item 3031679	NM_030782.5(CLPTM1L):c.993C>T (p.Phe331=)	CLPTM1L	Single nucleotide variant (synonymous variant)	CLPTM1L-related disorder	GLikely benign
Select item 3043571	NM_030782.5(CLPTM1L):c.879C>G (p.Val293=)	CLPTM1L	Single nucleotide variant (synonymous variant)	CLPTM1L-related disorder	GLikely benign
Select item 3035090	NM_030782.5(CLPTM1L):c.797-10dup	CLPTM1L	Duplication (intron variant)	CLPTM1L-related disorder	GLikely benign
Select item 3049159	NM_030782.5(CLPTM1L):c.792G>A (p.Gln264=)	CLPTM1L	Single nucleotide variant (synonymous variant)	CLPTM1L-related disorder	GBenign
Select item 3048647	NM_030782.5(CLPTM1L):c.774C>T (p.Ala258=)	CLPTM1L	Single nucleotide variant (synonymous variant)	CLPTM1L-related disorder	GBenign
Select item 3033206	NM_030782.5(CLPTM1L):c.688C>T (p.Arg230Cys)	CLPTM1L (R230C)	Single nucleotide variant (missense variant)	CLPTM1L-related disorder	GBenign
Select item 3057697	NM_030782.5(CLPTM1L):c.459C>T (p.Ile153=)	CLPTM1L	Single nucleotide variant (synonymous variant)	CLPTM1L-related disorder	GLikely benign
Select item 3032545	NM_030782.5(CLPTM1L):c.336C>T (p.His112=)	CLPTM1L	Single nucleotide variant (synonymous variant)	CLPTM1L-related disorder	GLikely benign
Select item 3061444	NM_030782.5(CLPTM1L):c.309G>A (p.Thr103=)	CLPTM1L	Single nucleotide variant (synonymous variant)	CLPTM1L-related disorder	GLikely benign
Select item 3045764	NM_030782.5(CLPTM1L):c.303T>C (p.Asn101=)	CLPTM1L	Single nucleotide variant (synonymous variant)	CLPTM1L-related disorder	GLikely benign
Select item 3048412	NM_030782.5(CLPTM1L):c.231G>C (p.Val77=)	CLPTM1L	Single nucleotide variant (synonymous variant)	CLPTM1L-related disorder	GBenign
Select item 3050732	NM_030782.5(CLPTM1L):c.114C>T (p.Gly38=)	CLPTM1L	Single nucleotide variant (synonymous variant)	CLPTM1L-related disorder	GBenign