ClinVar for Gene (Select 81037) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3246399	NC_000005.9:g.(?_1293408)_(1443312_?)dup	CLPTM1L, SLC6A3 +1 more	Duplication	Dyskeratosis congenita, autosomal dominant 2 +1 more	GUncertain significance
Select item 3246398	NC_000005.9:g.(?_1254473)_(1322087_?)dup	CLPTM1L, TERT	Duplication	Dyskeratosis congenita, autosomal dominant 2 +1 more	GUncertain significance
Select item 3148940	GRCh37/hg19 5p15.33(chr5:113577-2191119)x1	AHRR, BRD9 +24 more	Copy number loss	See cases	GUncertain significance
Select item 3148925	GRCh37/hg19 5p15.33-13.3(chr5:113577-31773283)x3	MRPL36, MTRR +70 more	Copy number gain	not provided	GPathogenic
Select item 3148923	GRCh37/hg19 5p15.33-15.2(chr5:113577-13341742)x1	ADAMTS16, ADCY2 +49 more	Copy number loss	not provided	GPathogenic
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 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 3145985	NM_030782.5(CLPTM1L):c.62T>C (p.Val21Ala)	CLPTM1L (V21A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 3145983	NM_030782.5(CLPTM1L):c.1549A>G (p.Lys517Glu)	CLPTM1L (K517E)	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 3062870	GRCh37/hg19 5p15.33-15.2(chr5:113576-10835556)x1	ADAMTS16, ADCY2 +47 more	Copy number loss	not specified	GPathogenic
Select item 3062868	GRCh37/hg19 5p15.33-15.31(chr5:113576-7436985)x1	ADAMTS16, ADCY2 +35 more	Copy number loss	not specified	GPathogenic
Select item 3062864	GRCh37/hg19 5p15.33-14.3(chr5:113576-19388145)x1	ADAMTS16, ADCY2 +61 more	Copy number loss	not specified	GPathogenic
Select item 3062860	GRCh37/hg19 5p15.33-15.1(chr5:113576-17511896)x1	ADAMTS16, ADCY2 +61 more	Copy number loss	not specified	GPathogenic
Select item 3062835	GRCh37/hg19 5p15.33(chr5:113576-3612214)x1	AHRR, BRD9 +27 more	Copy number loss	not specified	GPathogenic
Select item 3062831	GRCh37/hg19 5p15.33-14.1(chr5:113576-26534253)x1	ADAMTS16, ADCY2 +66 more	Copy number loss	not specified	GPathogenic
Select item 3062815	GRCh37/hg19 5p15.33-14.1(chr5:113576-28300709)x1	ADAMTS16, ADCY2 +67 more	Copy number loss	not specified	GPathogenic
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 3057697	NM_030782.5(CLPTM1L):c.459C>T (p.Ile153=)	CLPTM1L	Single nucleotide variant (synonymous 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 3050732	NM_030782.5(CLPTM1L):c.114C>T (p.Gly38=)	CLPTM1L	Single nucleotide variant (synonymous variant)	CLPTM1L-related disorder	GBenign
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 3048412	NM_030782.5(CLPTM1L):c.231G>C (p.Val77=)	CLPTM1L	Single nucleotide variant (synonymous variant)	CLPTM1L-related disorder	GBenign
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 3045764	NM_030782.5(CLPTM1L):c.303T>C (p.Asn101=)	CLPTM1L	Single nucleotide variant (synonymous variant)	CLPTM1L-related disorder	GLikely benign
Select item 3045755	NM_030782.5(CLPTM1L):c.1281-8C>T	CLPTM1L	Single nucleotide variant (intron 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 3043571	NM_030782.5(CLPTM1L):c.879C>G (p.Val293=)	CLPTM1L	Single nucleotide variant (synonymous 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 3036430	NM_030782.5(CLPTM1L):c.1092G>C (p.Val364=)	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 3035090	NM_030782.5(CLPTM1L):c.797-10dup	CLPTM1L	Duplication (intron variant)	CLPTM1L-related disorder	GLikely benign
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 3032545	NM_030782.5(CLPTM1L):c.336C>T (p.His112=)	CLPTM1L	Single nucleotide variant (synonymous 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 2685145	GRCh37/hg19 5p15.33-14.3(chr5:862398-18927500)x1	ADAMTS16, ADCY2 +48 more	Copy number loss	not provided	GPathogenic
Select item 2685142	GRCh37/hg19 5p15.33-14.3(chr5:113577-21529653)x1	ADAMTS16, ADCY2 +62 more	Copy number loss	not provided	GPathogenic
Select item 2685141	GRCh37/hg19 5p15.33-13.3(chr5:113577-30529044)x1	ADAMTS16, ADCY2 +67 more	Copy number loss	not provided	GPathogenic
Select item 2685140	GRCh37/hg19 5p15.33-15.2(chr5:113577-11095056)x1	ADAMTS16, ADCY2 +48 more	Copy number loss	not provided	GPathogenic
Select item 2685139	GRCh37/hg19 5p15.33-13.2(chr5:113577-35613146)x1	ADAMTS12, ADAMTS16 +89 more	Copy number loss	not provided	GPathogenic
Select item 2684403	GRCh37/hg19 5p15.33-14.1(chr5:113577-27800913)x3	ADAMTS16, ADCY2 +67 more	Copy number gain	not provided	GPathogenic
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 2608558	NM_030782.5(CLPTM1L):c.1568T>C (p.Phe523Ser)	CLPTM1L (F523S)	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 2579279	GRCh38/hg38 5p15.33-15.2(chr5:9999-14320000)x1	LOC129993645, LOC129993646 +419 more	Copy number loss	Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome	GPathogenic
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 2542590	NM_030782.5(CLPTM1L):c.955A>G (p.Ile319Val)	CLPTM1L (I319V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2527105	NM_030782.5(CLPTM1L):c.1262T>C (p.Leu421Pro)	CLPTM1L (L421P)	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 2427645	NC_000005.9:g.(?_1201766)_(1443312_?)dup	CLPTM1L, SLC6A18 +3 more	Duplication	Idiopathic Pulmonary Fibrosis +1 more	GUncertain significance
Select item 2427644	NC_000005.9:g.(?_482643)_(1895829_?)del	BRD9, CEP72 +16 more	Deletion	Idiopathic Pulmonary Fibrosis +1 more	GPathogenic
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 2379391	NM_030782.5(CLPTM1L):c.191A>C (p.His64Pro)	CLPTM1L (H64P)	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 2369358	NM_030782.5(CLPTM1L):c.1501G>A (p.Val501Met)	CLPTM1L (V501M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2351551	NM_030782.5(CLPTM1L):c.724G>A (p.Asp242Asn)	CLPTM1L (D242N)	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 2337579	NM_030782.5(CLPTM1L):c.1126G>A (p.Gly376Ser)	CLPTM1L (G376S)	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 2278075	NM_030782.5(CLPTM1L):c.823G>A (p.Val275Met)	CLPTM1L (V275M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2261973	NM_030782.5(CLPTM1L):c.581T>C (p.Val194Ala)	CLPTM1L (V194A)	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 2233847	NM_030782.5(CLPTM1L):c.858C>G (p.Phe286Leu)	CLPTM1L (F286L)	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 2207829	NM_030782.5(CLPTM1L):c.226A>G (p.Asn76Asp)	CLPTM1L (N76D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1809293	GRCh37/hg19 5p15.33-13.3(chr5:113577-31448527)x1	ADAMTS16, ADCY2 +69 more	Copy number loss	not provided	GPathogenic
Select item 1809200	GRCh37/hg19 5p15.33-14.1(chr5:113577-26164852)x1	ADAMTS16, ADCY2 +66 more	Copy number loss	not provided	GPathogenic
Select item 1808602	GRCh37/hg19 5p15.33-15.1(chr5:113577-17654787)x1	ADAMTS16, ADCY2 +61 more	Copy number loss	not provided	GPathogenic
Select item 1808301	GRCh37/hg19 5p15.33(chr5:1256058-1411832)x3	CLPTM1L, SLC6A3 +1 more	Copy number gain	not provided	GUncertain significance
Select item 1807906	GRCh37/hg19 5p15.33-13.3(chr5:1-32091038)x1	ADAMTS16, ADCY2 +71 more	Copy number loss	not provided	GPathogenic
Select item 1711872	GRCh37/hg19 5p15.33(chr5:113576-2027194)x1	AHRR, BRD9 +24 more	Copy number loss	See cases	GPathogenic
Select item 1707436	GRCh37/hg19 5p15.33-15.31(chr5:113576-8007018)x1	ADAMTS16, ADCY2 +38 more	Copy number loss	See cases	GPathogenic
Select item 1706484	GRCh37/hg19 5p15.33-13.3(chr5:113576-30712376)x1	ADAMTS16, ADCY2 +67 more	Copy number loss	See cases	GPathogenic
Select item 1705881	GRCh37/hg19 5p15.33(chr5:26141-2537457)x3	NDUFS6, NKD2 +24 more	Copy number gain	Global developmental delay	GUncertain significance
Select item 1703686	GRCh37/hg19 5p15.33-15.2(chr5:113576-12601027)	ADAMTS16, ADCY2 +48 more	Copy number loss	5p partial monosomy syndrome	GPathogenic
Select item 1703685	GRCh37/hg19 5p15.33-13.3(chr5:113576-29310520)	ADAMTS16, ADCY2 +67 more	Copy number gain	5p partial monosomy syndrome	GPathogenic
Select item 1459245	NC_000005.9:g.(?_218471)_(1895829_?)del	AHRR, BRD9 +21 more	Deletion	Parkinsonism-dystonia, infantile	GPathogenic
Select item 1340680	GRCh37/hg19 5p15.33(chr5:113577-2276310)x1	AHRR, BRD9 +24 more	Copy number loss	not provided	GUncertain significance
Select item 1340533	GRCh37/hg19 5p15.33-15.1(chr5:113577-16952167)x1	ADAMTS16, ADCY2 +60 more	Copy number loss	not provided	GPathogenic
Select item 1226954	NM_030782.5(CLPTM1L):c.1532+1051G>T	CLPTM1L	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1180547	GRCh37/hg19 5p15.33(chr5:13200-4012072)x1	AHRR, BRD9 +27 more	Copy number loss	not provided	GPathogenic
Select item 1072228	NC_000005.9:g.(?_1253823)_(1448148_?)del	CLPTM1L, SLC6A3 +1 more	Deletion	Parkinsonism-dystonia, infantile	GPathogenic
Select item 1012369	GRCh37/hg19 5p15.33-13.3(chr5:22149-29048823)x1	MARCHF11, MARCHF6 +67 more	Copy number loss	See cases	GPathogenic
Select item 979670	GRCh37/hg19 5p15.33(chr5:113576-4305172)x1	AHRR, BRD9 +27 more	Copy number loss	not provided	GPathogenic
Select item 915985	GRCh37/hg19 5p15.33-14.3(chr5:71904-22078969)	LPCAT1, MYO10 +63 more	Copy number loss	5p partial monosomy syndrome	GPathogenic
Select item 814659	GRCh37/hg19 5p15.33-15.2(chr5:1322680-10762544)x1	CCT5, ADAMTS16 +27 more	Copy number loss	not provided	GPathogenic
Select item 814657	GRCh37/hg19 5p15.33(chr5:944046-1541755)x3	CLPTM1L, LPCAT1 +6 more	Copy number gain	not provided	GUncertain significance
Select item 814656	GRCh37/hg19 5p15.33-15.32(chr5:113576-5194484)x1	ADAMTS16, AHRR +28 more	Copy number loss	not provided	GPathogenic
Select item 814655	GRCh37/hg19 5p15.33-15.32(chr5:113576-5657333)x1	ADAMTS16, AHRR +29 more	Copy number loss	not provided	GPathogenic
Select item 814654	GRCh37/hg19 5p15.33-15.2(chr5:113576-11767720)x1	SLC9A3, SRD5A1 +48 more	Copy number loss	not provided	GPathogenic
Select item 814653	GRCh37/hg19 5p15.33-15.2(chr5:113576-14738180)x1	ADAMTS16, ADCY2 +55 more	Copy number loss	not provided	GPathogenic
Select item 814652	GRCh37/hg19 5p15.33-14.2(chr5:113576-23364376)x1	ADAMTS16, ADCY2 +63 more	Copy number loss	not provided	GPathogenic
Select item 814651	GRCh37/hg19 5p15.33(chr5:113576-4325585)x1	AHRR, BRD9 +27 more	Copy number loss	not provided	GPathogenic
Select item 814650	GRCh37/hg19 5p15.33(chr5:113576-2485820)x1	AHRR, BRD9 +24 more	Copy number loss	not provided	GUncertain significance

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