TMED7[gene] - ClinVar - NCBI

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

Search results

Items: 1 to 100 of 117

<< First< Prev

Page of 2

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 151143	GRCh38/hg38 5q14.3-23.3(chr5:90374606-128076423)x1	ADGRV1, ALDH7A1 +682 more	Copy number loss	See cases	GPathogenic
Select item 155679	GRCh38/hg38 5q14.3-31.1(chr5:91411708-131319563)x1	LOC129994229, LOC129994230 +688 more	Copy number loss	See cases	GPathogenic
Select item 152734	GRCh38/hg38 5q14.3-23.1(chr5:92899734-119614119)x1	LOC129994369, LOC129994370 +495 more	Copy number loss	See cases	GPathogenic
Select item 59672	GRCh38/hg38 5q21.3-33.2(chr5:106619588-156124387)x1	ABLIM3, ACSL6 +1672 more	Copy number loss	See cases	GPathogenic
Select item 146399	GRCh38/hg38 5q21.3-23.1(chr5:107002209-118025316)x1	AP3S1, APC +230 more	Copy number loss	See cases	GPathogenic
Select item 155259	GRCh38/hg38 5q21.3-23.2(chr5:108308463-125777797)x1	LOC129994389, LOC129994390 +340 more	Copy number loss	See cases	GPathogenic
Select item 144331	GRCh38/hg38 5q21.3-23.1(chr5:108585264-116815075)x1	AP3S1, APC +186 more	Copy number loss	See cases	GPathogenic
Select item 150374	GRCh38/hg38 5q22.1-23.3(chr5:110687442-130103838)x1	LOC129389350, LOC129389351 +377 more	Copy number loss	See cases	GPathogenic
Select item 146237	GRCh38/hg38 5q22.1-23.2(chr5:111463016-127193038)x1	ALDH7A1, AP3S1 +317 more	Copy number loss	See cases	GPathogenic
Select item 152168	GRCh38/hg38 5q22.2-23.1(chr5:112323517-117773507)x1	AP3S1, DCP2 +119 more	Copy number loss	See cases	GPathogenic
Select item 545308	Single allele	AP3S1, ARL14EPL +88 more	Duplication	Autism	GLikely pathogenic
Select item 145546	GRCh38/hg38 5q22.3-23.2(chr5:114707561-126507744)x1	AP3S1, ARL14EPL +228 more	Copy number loss	See cases	GPathogenic
Select item 150035	GRCh38/hg38 5q22.3(chr5:115320895-115754204)x1	FEM1C, LOC102467217 +18 more	Copy number loss	See cases	GUncertain significance
Select item 148671	GRCh38/hg38 5q22.3-23.1(chr5:115387674-115916830)x1	AP3S1, ATG12 +24 more	Copy number loss	See cases	GUncertain significance
Select item 1930833	NM_181836.6(TMED7):c.672A>T (p.Ser224=)	TMED7, TMED7-TICAM2 +1 more	Single nucleotide variant (intron variant +1 more)	not provided	GLikely benign
Select item 1961753	NM_181836.6(TMED7):c.660_661delinsAT (p.Arg221Cys)	TICAM2-AS1, TMED7 +1 more (R221C)	Indel (intron variant +1 more)	not provided	GUncertain significance
Select item 1483638	NM_181836.6(TMED7):c.655A>G (p.Thr219Ala)	TICAM2-AS1, TMED7 +1 more (T219A)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1669343	NM_181836.6(TMED7):c.622T>C (p.Leu208=)	TICAM2-AS1, TMED7 +1 more	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2067978	NM_181836.6(TMED7):c.612G>A (p.Gln204=)	TICAM2-AS1, TMED7 +1 more	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2874826	NM_181836.6(TMED7):c.603C>T (p.Ser201=)	TICAM2-AS1, TMED7 +1 more	Single nucleotide variant (intron variant +1 more)	not provided	GLikely benign
Select item 1990854	NM_181836.6(TMED7):c.572T>C (p.Val191Ala)	TICAM2-AS1, TMED7 +1 more (V191A)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1657409	NM_181836.6(TMED7):c.570A>T (p.Ser190=)	TICAM2-AS1, TMED7 +1 more	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2867670	NM_181836.6(TMED7):c.552A>C (p.Thr184=)	TICAM2-AS1, TMED7 +1 more	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2182309	NM_181836.6(TMED7):c.542A>T (p.Asp181Val)	TICAM2-AS1, TMED7 +1 more (D181V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2015385	NM_181836.6(TMED7):c.527G>A (p.Arg176Gln)	TMED7-TICAM2, TICAM2-AS1 +1 more (R176Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2012165	NM_181836.6(TMED7):c.497C>A (p.Thr166Asn)	TICAM2-AS1, TMED7 +1 more (T166N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2123480	NM_181836.6(TMED7):c.492T>C (p.Tyr164=)	TICAM2-AS1, TMED7 +1 more	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2885015	NM_181836.6(TMED7):c.448G>C (p.Ala150Pro)	TICAM2-AS1, TMED7 +1 more (A150P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1976387	NM_181836.6(TMED7):c.439-11T>C	TICAM2-AS1, TMED7 +1 more	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1908186	NM_181836.6(TMED7):c.439-14A>G	TICAM2-AS1, TMED7 +1 more	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2104096	NM_181836.6(TMED7):c.439-17A>G	TICAM2-AS1, TMED7 +1 more	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1609570	NM_181836.6(TMED7):c.439-20C>T	TICAM2-AS1, TMED7 +1 more	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1623948	NM_181836.6(TMED7):c.438+20A>G	TICAM2-AS1, TMED7 +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 1963755	NM_181836.6(TMED7):c.438+18C>T	TICAM2-AS1, TMED7 +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 1916398	NM_181836.6(TMED7):c.438+13dup	TMED7, TMED7-TICAM2	Duplication (intron variant)	not provided	GBenign
Select item 1906847	NM_181836.6(TMED7):c.438+12_438+13dup	TMED7, TMED7-TICAM2	Duplication (intron variant)	not provided	GBenign
Select item 1924444	NM_181836.6(TMED7):c.438+7A>T	TMED7, TMED7-TICAM2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1999773	NM_181836.6(TMED7):c.436C>A (p.Gln146Lys)	TMED7, TMED7-TICAM2 (Q146K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1906631	NM_181836.6(TMED7):c.419G>A (p.Arg140Gln)	TMED7, TMED7-TICAM2 (R140Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1931588	NM_181836.6(TMED7):c.397C>T (p.Pro133Ser)	TMED7, TMED7-TICAM2 (P133S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1975902	NM_181836.6(TMED7):c.396A>G (p.Pro132=)	TMED7, TMED7-TICAM2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2189428	NM_181836.6(TMED7):c.389A>G (p.Glu130Gly)	TMED7-TICAM2, TMED7 (E130G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2032990	NM_181836.6(TMED7):c.388G>C (p.Glu130Gln)	TMED7, TMED7-TICAM2 (E130Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2704053	NM_181836.6(TMED7):c.375T>C (p.Asp125=)	TMED7, TMED7-TICAM2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1573817	NM_181836.6(TMED7):c.348T>A (p.Thr116=)	TMED7, TMED7-TICAM2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1384740	NM_181836.6(TMED7):c.337G>A (p.Glu113Lys)	TMED7, TMED7-TICAM2 (E113K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2971478	NM_181836.6(TMED7):c.324T>G (p.Phe108Leu)	TMED7, TMED7-TICAM2 (F108L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1569577	NM_181836.6(TMED7):c.315A>G (p.Thr105=)	TMED7, TMED7-TICAM2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2103043	NM_181836.6(TMED7):c.309T>C (p.Asn103=)	TMED7, TMED7-TICAM2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2120733	NM_181836.6(TMED7):c.307A>C (p.Asn103His)	TMED7-TICAM2, TMED7 (N103H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2012264	NM_181836.6(TMED7):c.305A>G (p.Lys102Arg)	TMED7, TMED7-TICAM2 (K102R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2019238	NM_181836.6(TMED7):c.299C>T (p.Ala100Val)	TMED7, TMED7-TICAM2 (A100V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1927563	NM_181836.6(TMED7):c.285T>C (p.Ser95=)	TMED7, TMED7-TICAM2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1982705	NM_181836.6(TMED7):c.270G>A (p.Lys90=)	TMED7, TMED7-TICAM2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1929436	NM_181836.6(TMED7):c.250G>C (p.Val84Leu)	TMED7, TMED7-TICAM2 (V84L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1895933	NM_181836.6(TMED7):c.245G>A (p.Gly82Asp)	TMED7, TMED7-TICAM2 (G82D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2065235	NM_181836.6(TMED7):c.227G>A (p.Arg76Gln)	TMED7, TMED7-TICAM2 (R76Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1669874	NM_181836.6(TMED7):c.222T>C (p.Asp74=)	TMED7, TMED7-TICAM2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2842221	NM_181836.6(TMED7):c.221A>G (p.Asp74Gly)	TMED7, TMED7-TICAM2 (D74G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2134557	NM_181836.6(TMED7):c.219A>G (p.Val73=)	TMED7-TICAM2, TMED7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2072002	NM_181836.6(TMED7):c.193G>A (p.Val65Met)	TMED7, TMED7-TICAM2 (V65M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2064287	NM_181836.6(TMED7):c.193-5del	TMED7, TMED7-TICAM2	Deletion (intron variant)	not provided	GLikely benign
Select item 1929811	NM_181836.6(TMED7):c.192+8G>T	TMED7, TMED7-TICAM2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1906986	NM_181836.6(TMED7):c.192+6_192+7del	TMED7, TMED7-TICAM2	Deletion (intron variant)	not provided	GUncertain significance
Select item 3000568	NM_181836.6(TMED7):c.155A>G (p.Asp52Gly)	TMED7, TMED7-TICAM2 (D52G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1931849	NM_181836.6(TMED7):c.155A>T (p.Asp52Val)	TMED7, TMED7-TICAM2 (D52V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2883296	NM_181836.6(TMED7):c.154G>A (p.Asp52Asn)	TMED7, TMED7-TICAM2 (D52N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2105887	NM_181836.6(TMED7):c.144C>T (p.Cys48=)	TMED7, TMED7-TICAM2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2186621	NM_181836.6(TMED7):c.108G>A (p.Glu36=)	TMED7, TMED7-TICAM2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2016608	NM_181836.6(TMED7):c.105T>A (p.Ser35=)	TMED7, TMED7-TICAM2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1939069	NM_181836.6(TMED7):c.100G>T (p.Ala34Ser)	LOC129994401, TMED7 +1 more (A34S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2824129	NM_181836.6(TMED7):c.97G>A (p.Gly33Ser)	LOC129994401, TMED7 +1 more (G33S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1599502	NM_181836.6(TMED7):c.94G>T (p.Gly32Cys)	LOC129994401, TMED7 +1 more (G32C)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1548288	NM_181836.6(TMED7):c.93C>T (p.Pro31=)	LOC129994401, TMED7 +1 more	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1905820	NM_181836.6(TMED7):c.91C>G (p.Pro31Ala)	LOC129994401, TMED7 +1 more (P31A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2098316	NM_181836.6(TMED7):c.85C>T (p.Pro29Ser)	LOC129994401, TMED7 +1 more (P29S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2067979	NM_181836.6(TMED7):c.84G>A (p.Val28=)	LOC129994401, TMED7 +1 more	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2053323	NM_181836.6(TMED7):c.81G>A (p.Leu27=)	LOC129994401, TMED7 +1 more	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2053822	NM_181836.6(TMED7):c.79C>T (p.Leu27=)	TMED7, TMED7-TICAM2 +1 more	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1654503	NM_181836.6(TMED7):c.78A>G (p.Leu26=)	LOC129994401, TMED7 +1 more	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2042132	NM_181836.6(TMED7):c.70C>T (p.Leu24=)	LOC129994401, TMED7 +1 more	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1930511	NM_181836.6(TMED7):c.61C>T (p.Leu21=)	LOC129994401, TMED7 +1 more	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1974646	NM_181836.6(TMED7):c.54G>T (p.Gly18=)	LOC129994401, TMED7 +1 more	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2413322	NM_181836.6(TMED7):c.52G>T (p.Gly18Trp)	LOC129994401, TMED7 +1 more (G18W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2178564	NM_181836.6(TMED7):c.51G>C (p.Trp17Cys)	TMED7-TICAM2, LOC129994401 +1 more (W17C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1503017	NM_181836.6(TMED7):c.51G>T (p.Trp17Cys)	LOC129994401, TMED7 +1 more (W17C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2184685	NM_181836.6(TMED7):c.47G>A (p.Arg16His)	LOC129994401, TMED7 +1 more (R16H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2116229	NM_181836.6(TMED7):c.46C>T (p.Arg16Cys)	TMED7-TICAM2, LOC129994401 +1 more (R16C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2800533	NM_181836.6(TMED7):c.42G>C (p.Ala14=)	LOC129994401, TMED7 +1 more	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1616078	NM_181836.6(TMED7):c.42G>A (p.Ala14=)	LOC129994401, TMED7 +1 more	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2993265	NM_181836.6(TMED7):c.37G>T (p.Val13Phe)	LOC129994401, TMED7 +1 more (V13F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2786038	NM_181836.6(TMED7):c.31G>A (p.Ala11Thr)	TMED7, TMED7-TICAM2 (A11T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2791965	NM_181836.6(TMED7):c.29G>C (p.Trp10Ser)	TMED7, TMED7-TICAM2 (W10S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1420456	NM_181836.6(TMED7):c.28T>C (p.Trp10Arg)	TMED7, TMED7-TICAM2 (W10R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1927541	NM_181836.6(TMED7):c.23A>G (p.Gln8Arg)	TMED7, TMED7-TICAM2 (Q8R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1924289	NM_181836.6(TMED7):c.20C>T (p.Ala7Val)	TMED7, TMED7-TICAM2 (A7V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1932785	NM_181836.6(TMED7):c.15G>A (p.Gly5=)	TMED7, TMED7-TICAM2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1608069	NM_181836.6(TMED7):c.15G>T (p.Gly5=)	TMED7, TMED7-TICAM2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1947996	NM_181836.6(TMED7):c.12G>C (p.Pro4=)	TMED7, TMED7-TICAM2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1989984	NM_181836.6(TMED7):c.11C>T (p.Pro4Leu)	TMED7, TMED7-TICAM2 (P4L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

<< First< Prev

Page of 2