CLPTM1L[gene] and "single gene"[properties] - ClinVar

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Items: 60

	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 3267852	NM_030782.5(CLPTM1L):c.1601C>T (p.Ala534Val)	CLPTM1L (A534V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2347683	NM_030782.5(CLPTM1L):c.1597C>T (p.Arg533Trp)	CLPTM1L (R533W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2608558	NM_030782.5(CLPTM1L):c.1568T>C (p.Phe523Ser)	CLPTM1L (F523S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2495416	NM_030782.5(CLPTM1L):c.1553G>A (p.Arg518His)	CLPTM1L (R518H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145983	NM_030782.5(CLPTM1L):c.1549A>G (p.Lys517Glu)	CLPTM1L (K517E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1226954	NM_030782.5(CLPTM1L):c.1532+1051G>T	CLPTM1L	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3035456	NM_030782.5(CLPTM1L):c.1532+7G>A	CLPTM1L	Single nucleotide variant (intron variant)	CLPTM1L-related disorder	GLikely benign
Select item 2369358	NM_030782.5(CLPTM1L):c.1501G>A (p.Val501Met)	CLPTM1L (V501M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2220258	NM_030782.5(CLPTM1L):c.1496A>T (p.Asp499Val)	CLPTM1L (D499V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2527105	NM_030782.5(CLPTM1L):c.1262T>C (p.Leu421Pro)	CLPTM1L (L421P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145982	NM_030782.5(CLPTM1L):c.1237G>A (p.Val413Ile)	CLPTM1L (V413I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2362150	NM_030782.5(CLPTM1L):c.1235G>C (p.Cys412Ser)	CLPTM1L (C412S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 3267853	NM_030782.5(CLPTM1L):c.1130T>C (p.Leu377Pro)	CLPTM1L (L377P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2337579	NM_030782.5(CLPTM1L):c.1126G>A (p.Gly376Ser)	CLPTM1L (G376S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2396488	NM_030782.5(CLPTM1L):c.1064T>C (p.Val355Ala)	CLPTM1L (V355A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2302618	NM_030782.5(CLPTM1L):c.1027G>A (p.Glu343Lys)	CLPTM1L (E343K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2277196	NM_030782.5(CLPTM1L):c.986G>A (p.Arg329His)	CLPTM1L (R329H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145989	NM_030782.5(CLPTM1L):c.972G>T (p.Lys324Asn)	CLPTM1L (K324N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2542590	NM_030782.5(CLPTM1L):c.955A>G (p.Ile319Val)	CLPTM1L (I319V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145987	NM_030782.5(CLPTM1L):c.906C>G (p.Phe302Leu)	CLPTM1L (F302L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145986	NM_030782.5(CLPTM1L):c.884C>T (p.Ala295Val)	CLPTM1L (A295V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2233847	NM_030782.5(CLPTM1L):c.858C>G (p.Phe286Leu)	CLPTM1L (F286L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2614028	NM_030782.5(CLPTM1L):c.853T>C (p.Tyr285His)	CLPTM1L (Y285H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2278075	NM_030782.5(CLPTM1L):c.823G>A (p.Val275Met)	CLPTM1L (V275M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 161775	NM_030782.5(CLPTM1L):c.749G>A (p.Arg250His)	CLPTM1L (R250H)	Single nucleotide variant (missense variant)	Malignant tumor of prostate	GUncertain significance
Select item 2351551	NM_030782.5(CLPTM1L):c.724G>A (p.Asp242Asn)	CLPTM1L (D242N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2261973	NM_030782.5(CLPTM1L):c.581T>C (p.Val194Ala)	CLPTM1L (V194A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3267858	NM_030782.5(CLPTM1L):c.532G>C (p.Val178Leu)	CLPTM1L (V178L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3267855	NM_030782.5(CLPTM1L):c.466G>C (p.Glu156Gln)	CLPTM1L (E156Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 218808	NM_030782.5(CLPTM1L):c.436G>A (p.Gly146Arg)	CLPTM1L (G146R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2242990	NM_030782.5(CLPTM1L):c.416A>G (p.Glu139Gly)	CLPTM1L (E139G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3267857	NM_030782.5(CLPTM1L):c.379G>C (p.Val127Leu)	CLPTM1L (V127L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 3145984	NM_030782.5(CLPTM1L):c.326T>G (p.Phe109Cys)	CLPTM1L (F109C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2529591	NM_030782.5(CLPTM1L):c.308C>T (p.Thr103Met)	CLPTM1L (T103M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2207829	NM_030782.5(CLPTM1L):c.226A>G (p.Asn76Asp)	CLPTM1L (N76D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 402547	NM_030782.5(CLPTM1L):c.220G>C (p.Val74Leu)	CLPTM1L (V74L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2373926	NM_030782.5(CLPTM1L):c.200C>A (p.Ala67Asp)	CLPTM1L (A67D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2379391	NM_030782.5(CLPTM1L):c.191A>C (p.His64Pro)	CLPTM1L (H64P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2595776	NM_030782.5(CLPTM1L):c.133C>T (p.Pro45Ser)	CLPTM1L (P45S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2551890	NM_030782.5(CLPTM1L):c.122A>G (p.Asn41Ser)	CLPTM1L (N41S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3050732	NM_030782.5(CLPTM1L):c.114C>T (p.Gly38=)	CLPTM1L	Single nucleotide variant (synonymous variant)	CLPTM1L-related disorder	GBenign
Select item 3145985	NM_030782.5(CLPTM1L):c.62T>C (p.Val21Ala)	CLPTM1L (V21A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3267854	NM_030782.5(CLPTM1L):c.41G>T (p.Gly14Val)	CLPTM1L (G14V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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Items: 60