CLPTM1[gene] - ClinVar

Search results

Items: 93

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3038555	NM_001282175.2(CLPTM1):c.30+1G>T	CLPTM1	Single nucleotide variant (intron variant +1 more)	CLPTM1-related disorder	GLikely benign
Select item 2363433	NM_001294.4(CLPTM1):c.5C>T (p.Ala2Val)	CLPTM1, LOC130064657 (A2V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3048348	NM_001294.4(CLPTM1):c.6G>A (p.Ala2=)	CLPTM1, LOC130064657	Single nucleotide variant (synonymous variant +1 more)	CLPTM1-related disorder	GLikely benign
Select item 744468	NM_001294.4(CLPTM1):c.21G>A (p.Ala7=)	CLPTM1, LOC130064657	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3267847	NM_001294.4(CLPTM1):c.40G>A (p.Val14Met)	CLPTM1, LOC130064657 (V14M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3350762	NM_001294.4(CLPTM1):c.53G>A (p.Gly18Glu)	CLPTM1, LOC130064657 (G18E)	Single nucleotide variant (missense variant +1 more)	CLPTM1-related disorder	GUncertain significance
Select item 2355238	NM_001294.4(CLPTM1):c.53G>C (p.Gly18Ala)	CLPTM1, LOC130064657 (G18A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2207672	NM_001294.4(CLPTM1):c.59G>A (p.Gly20Asp)	CLPTM1, LOC130064657 (G20D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2259284	NM_001294.4(CLPTM1):c.68G>A (p.Gly23Asp)	CLPTM1, LOC130064657 (G23D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3054496	NM_001294.4(CLPTM1):c.73-5C>A	CLPTM1	Single nucleotide variant (intron variant)	CLPTM1-related disorder	GLikely benign
Select item 2463403	NM_001294.4(CLPTM1):c.94G>A (p.Gly32Arg)	CLPTM1 (G32R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3267848	NM_001294.4(CLPTM1):c.104C>T (p.Pro35Leu)	CLPTM1 (P35L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2224212	NM_001294.4(CLPTM1):c.110C>T (p.Ala37Val)	CLPTM1 (A37V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 709303	NM_001294.4(CLPTM1):c.135G>A (p.Pro45=)	CLPTM1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 147383	GRCh38/hg38 19q13.32-13.33(chr19:44971420-48257402)x3	LOC129391127, LOC129391128 +363 more	Copy number gain	See cases	GPathogenic
Select item 3029011	NM_001294.4(CLPTM1):c.198C>T (p.Ile66=)	CLPTM1	Single nucleotide variant (synonymous variant +1 more)	CLPTM1-related disorder	GLikely benign
Select item 3267845	NM_001294.4(CLPTM1):c.220C>T (p.Arg74Cys)	CLPTM1 (R60C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2469557	NM_001294.4(CLPTM1):c.221G>A (p.Arg74His)	CLPTM1 (R60H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3035253	NM_001294.4(CLPTM1):c.249G>A (p.Ala83=)	CLPTM1	Single nucleotide variant (synonymous variant +1 more)	CLPTM1-related disorder	GLikely benign
Select item 782057	NM_001294.4(CLPTM1):c.255C>T (p.Pro85=)	CLPTM1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2273711	NM_001294.4(CLPTM1):c.256G>A (p.Gly86Arg)	CLPTM1 (G72R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1278716	NM_001294.4(CLPTM1):c.264T>C (p.Ala88=)	CLPTM1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 3047181	NM_001294.4(CLPTM1):c.270C>T (p.Arg90=)	CLPTM1	Single nucleotide variant (synonymous variant +1 more)	CLPTM1-related disorder	GLikely benign
Select item 708251	NM_001294.4(CLPTM1):c.345T>C (p.Phe115=)	CLPTM1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3145977	NM_001294.4(CLPTM1):c.356A>G (p.Asn119Ser)	CLPTM1 (N119S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2323141	NM_001294.4(CLPTM1):c.358G>A (p.Ala120Thr)	CLPTM1 (A106T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3267849	NM_001294.4(CLPTM1):c.400G>A (p.Gly134Ser)	CLPTM1 (G134S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2398217	NM_001294.4(CLPTM1):c.418G>A (p.Glu140Lys)	CLPTM1 (E38K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3267850	NM_001294.4(CLPTM1):c.439G>A (p.Glu147Lys)	CLPTM1 (E133K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145978	NM_001294.4(CLPTM1):c.457G>A (p.Asp153Asn)	CLPTM1 (D153N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145979	NM_001294.4(CLPTM1):c.460A>G (p.Ile154Val)	CLPTM1 (I140V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2630902	NM_001294.4(CLPTM1):c.464C>T (p.Pro155Leu)	CLPTM1 (P141L +2 more)	Single nucleotide variant (missense variant)	CLPTM1-related disorder	GUncertain significance
Select item 3041029	NM_001294.4(CLPTM1):c.468+5G>A	CLPTM1	Single nucleotide variant (intron variant)	CLPTM1-related disorder	GBenign
Select item 2459833	NM_001294.4(CLPTM1):c.538C>T (p.Arg180Trp)	CLPTM1 (R166W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 714889	NM_001294.4(CLPTM1):c.556C>T (p.Arg186Cys)	CLPTM1 (R172C +2 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3047527	NM_001294.4(CLPTM1):c.654G>A (p.Ala218=)	CLPTM1	Single nucleotide variant (synonymous variant)	CLPTM1-related disorder	GLikely benign
Select item 3047689	NM_001294.4(CLPTM1):c.657C>T (p.Asp219=)	CLPTM1	Single nucleotide variant (synonymous variant)	CLPTM1-related disorder	GLikely benign
Select item 3145980	NM_001294.4(CLPTM1):c.700G>A (p.Val234Met)	CLPTM1 (V132M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2259717	NM_001294.4(CLPTM1):c.750C>A (p.His250Gln)	CLPTM1 (H148Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3043739	NM_001294.4(CLPTM1):c.804C>T (p.Phe268=)	CLPTM1	Single nucleotide variant (synonymous variant)	CLPTM1-related disorder	GLikely benign
Select item 2228786	NM_001294.4(CLPTM1):c.835A>G (p.Ile279Val)	CLPTM1 (I279V +2 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 3039867	NM_001294.4(CLPTM1):c.852C>T (p.Tyr284=)	CLPTM1	Single nucleotide variant (synonymous variant)	CLPTM1-related disorder	GLikely benign
Select item 3347400	NM_001294.4(CLPTM1):c.884A>G (p.Asn295Ser)	CLPTM1 (N193S +2 more)	Single nucleotide variant (missense variant)	CLPTM1-related disorder	GUncertain significance
Select item 3145981	NM_001294.4(CLPTM1):c.886G>A (p.Glu296Lys)	CLPTM1 (E282K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3035316	NM_001294.4(CLPTM1):c.897C>T (p.Ala299=)	CLPTM1	Single nucleotide variant (synonymous variant)	CLPTM1-related disorder	GLikely benign
Select item 3035645	NM_001294.4(CLPTM1):c.912C>T (p.Arg304=)	CLPTM1	Single nucleotide variant (synonymous variant)	CLPTM1-related disorder	GLikely benign
Select item 2211042	NM_001294.4(CLPTM1):c.913G>A (p.Val305Ile)	CLPTM1 (V291I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3053464	NM_001294.4(CLPTM1):c.1000T>C (p.Leu334=)	CLPTM1	Single nucleotide variant (synonymous variant)	CLPTM1-related disorder	GLikely benign
Select item 3052422	NM_001294.4(CLPTM1):c.1039-9C>T	CLPTM1	Single nucleotide variant (intron variant)	CLPTM1-related disorder	GLikely benign
Select item 1278978	NM_001294.4(CLPTM1):c.1133-18C>G	CLPTM1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3145968	NM_001294.4(CLPTM1):c.1181G>T (p.Arg394Leu)	CLPTM1 (R380L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2347156	NM_001294.4(CLPTM1):c.1189T>G (p.Phe397Val)	CLPTM1 (F295V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145969	NM_001294.4(CLPTM1):c.1244C>T (p.Thr415Ile)	CLPTM1 (T313I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145970	NM_001294.4(CLPTM1):c.1274T>C (p.Ile425Thr)	CLPTM1 (I425T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3267851	NM_001294.4(CLPTM1):c.1282C>G (p.Leu428Val)	CLPTM1 (L326V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145971	NM_001294.4(CLPTM1):c.1282C>T (p.Leu428Phe)	CLPTM1 (L326F +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 716505	NM_001294.4(CLPTM1):c.1284C>T (p.Leu428=)	CLPTM1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3145972	NM_001294.4(CLPTM1):c.1303A>T (p.Thr435Ser)	CLPTM1 (T333S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3041608	NM_001294.4(CLPTM1):c.1322G>A (p.Arg441Gln)	CLPTM1 (R339Q +2 more)	Single nucleotide variant (missense variant)	CLPTM1-related disorder	GLikely benign
Select item 2609432	NM_001294.4(CLPTM1):c.1335G>T (p.Glu445Asp)	CLPTM1 (E343D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3267844	NM_001294.4(CLPTM1):c.1360C>T (p.Arg454Cys)	CLPTM1 (R440C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2267643	NM_001294.4(CLPTM1):c.1376A>G (p.Asp459Gly)	CLPTM1 (D357G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2588421	NM_001294.4(CLPTM1):c.1393G>A (p.Glu465Lys)	CLPTM1 (E451K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2509212	NM_001294.4(CLPTM1):c.1429C>T (p.Arg477Trp)	CLPTM1 (R375W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3051766	NM_001294.4(CLPTM1):c.1433A>G (p.Tyr478Cys)	CLPTM1 (Y376C +2 more)	Single nucleotide variant (missense variant)	CLPTM1-related disorder	GBenign
Select item 3056545	NM_001294.4(CLPTM1):c.1437G>C (p.Leu479=)	CLPTM1	Single nucleotide variant (synonymous variant)	CLPTM1-related disorder	GBenign
Select item 717488	NM_001294.4(CLPTM1):c.1458C>T (p.Leu486=)	CLPTM1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2539236	NM_001294.4(CLPTM1):c.1463G>C (p.Gly488Ala)	CLPTM1 (G474A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145973	NM_001294.4(CLPTM1):c.1474G>A (p.Val492Ile)	CLPTM1 (V390I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145974	NM_001294.4(CLPTM1):c.1554C>T (p.Phe518=)	CLPTM1	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3033092	NM_001294.4(CLPTM1):c.1644C>T (p.Ala548=)	CLPTM1	Single nucleotide variant (synonymous variant)	CLPTM1-related disorder	GBenign
Select item 3035654	NM_001294.4(CLPTM1):c.1724-6C>T	CLPTM1	Single nucleotide variant (intron variant)	CLPTM1-related disorder	GLikely benign
Select item 2345246	NM_001294.4(CLPTM1):c.1742A>G (p.Tyr581Cys)	CLPTM1 (Y567C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2321179	NM_001294.4(CLPTM1):c.1766G>A (p.Arg589His)	CLPTM1 (R575H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3039789	NM_001294.4(CLPTM1):c.1770C>T (p.Val590=)	CLPTM1	Single nucleotide variant (synonymous variant)	CLPTM1-related disorder	GLikely benign
Select item 2411876	NM_001294.4(CLPTM1):c.1814C>T (p.Pro605Leu)	CLPTM1 (P591L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145975	NM_001294.4(CLPTM1):c.1825G>A (p.Ala609Thr)	CLPTM1 (A507T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2330034	NM_001294.4(CLPTM1):c.1831G>A (p.Val611Met)	CLPTM1 (V611M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 736893	NM_001294.4(CLPTM1):c.1836C>T (p.Ala612=)	CLPTM1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2353746	NM_001294.4(CLPTM1):c.1837G>A (p.Glu613Lys)	CLPTM1 (E511K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2234125	NM_001294.4(CLPTM1):c.1856G>C (p.Gly619Ala)	CLPTM1 (G605A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3046761	NM_001294.4(CLPTM1):c.1893C>T (p.Thr631=)	CLPTM1	Single nucleotide variant (synonymous variant)	CLPTM1-related disorder	GLikely benign
Select item 2323244	NM_001294.4(CLPTM1):c.1934C>G (p.Pro645Arg)	CLPTM1 (P543R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3041299	NM_001294.4(CLPTM1):c.1950C>T (p.Ser650=)	CLPTM1	Single nucleotide variant (synonymous variant)	CLPTM1-related disorder	GLikely benign
Select item 2597781	NM_001294.4(CLPTM1):c.1988C>G (p.Ala663Gly)	CLPTM1 (A649G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1526667	GRCh37/hg19 19q13.31-13.32(chr19:45074342-46133841)	APOC1, APOC2 +36 more	Copy number gain	not specified	GUncertain significance
Select item 816084	GRCh37/hg19 19q13.31-13.42(chr19:44738088-53621561)x3	C5AR1, C5AR2 +293 more	Copy number gain	not provided	GPathogenic
Select item 685025	GRCh37/hg19 19q11-13.33(chr19:28271106-49213832)x3	ZNF607, ZNF780A +432 more	Copy number gain	not provided	GPathogenic
Select item 443499	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)	PGLYRP1, PGLYRP2 +1364 more	Copy number gain	See cases	GPathogenic
Select item 443498	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3	TMC4, TMED1 +1364 more	Copy number gain	See cases	GPathogenic
Select item 442437	GRCh37/hg19 19q13.31-13.32(chr19:44300416-45639540)x1	APOC1, APOC2 +39 more	Copy number loss	See cases	GUncertain significance
Select item 253776	GRCh37/hg19 19q13.32(chr19:45284576-45978239)x3	NECTIN2, APOE +24 more	Copy number gain	See cases	GUncertain significance
Select item 253540	GRCh37/hg19 19q13.2-13.32(chr19:43013365-47241534)x1	APOC1, APOC2 +120 more	Copy number loss	See cases	GPathogenic

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Items: 93