TMEM165[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2579174	GRCh38/hg38 4p16.3-q12(chr4:85624-57073230)x3	LOC129992561, LOC129992562 +1409 more	Copy number gain	Neurodevelopmental disorder	GPathogenic
Select item 57074	GRCh38/hg38 4p13-q13.1(chr4:44356201-62245882)x3	AASDH, ADGRL3 +244 more	Copy number gain	See cases	GPathogenic
Select item 58029	GRCh38/hg38 4q12-22.3(chr4:51831622-97505618)x3	LOC129389216, LOC129389217 +757 more	Copy number gain	See cases	GPathogenic
Select item 58028	GRCh38/hg38 4q12-13.2(chr4:51831622-66991489)x3	AASDH, ADGRL3 +177 more	Copy number gain	See cases	GPathogenic
Select item 1098574	GRCh38/hg38 4q12-21.1(chr4:51891814-76009719)x1	CDKL2, LOC110120745 +360 more	Copy number loss	Piebaldism	GPathogenic
Select item 58030	GRCh38/hg38 4q12-13.1(chr4:51899860-59984479)x3	LOC129992618, LOC129992619 +143 more	Copy number gain	See cases	GPathogenic
Select item 59423	GRCh38/hg38 4q12-13.1(chr4:52639018-59984479)x1	AASDH, ARL9 +136 more	Copy number loss	See cases	GPathogenic
Select item 59424	GRCh38/hg38 4q12-13.1(chr4:54198601-62270115)x1	AASDH, ADGRL3 +100 more	Copy number loss	See cases	GPathogenic
Select item 1238673	NC_000004.12:g.55395763C>G	LOC129992612, TMEM165	Single nucleotide variant (genic upstream transcript variant)	not provided	GBenign
Select item 1233241	NC_000004.12:g.55395772G>A	LOC129992612, TMEM165	Single nucleotide variant (genic upstream transcript variant)	not provided	GBenign
Select item 1237019	NC_000004.12:g.55395832C>T	LOC129992612, TMEM165	Single nucleotide variant (genic upstream transcript variant)	not provided	GBenign
Select item 1266197	NC_000004.12:g.55395855G>A	LOC129992612, TMEM165	Single nucleotide variant (genic upstream transcript variant)	not provided	GBenign
Select item 349062	NM_018475.4(TMEM165):c.-253C>T	LOC129992612, TMEM165	Single nucleotide variant	Congenital disorder of glycosylation	GUncertain significance
Select item 349063	NM_018475.4(TMEM165):c.-252C>A	LOC129992612, TMEM165	Single nucleotide variant	Congenital disorder of glycosylation	GUncertain significance
Select item 907295	NM_018475.5(TMEM165):c.-147T>C	TMEM165	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GBenign
Select item 1949989	NM_018475.5(TMEM165):c.8C>T (p.Ala3Val)	TMEM165, LOC129992613 (A3V)	Single nucleotide variant (missense variant +1 more)	TMEM165-congenital disorder of glycosylation	GUncertain significance
Select item 513171	NM_018475.5(TMEM165):c.15T>C (p.Ala5=)	LOC129992613, TMEM165	Single nucleotide variant (synonymous variant +1 more)	TMEM165-congenital disorder of glycosylation +2 more	GLikely benign
Select item 2065208	NM_018475.5(TMEM165):c.17_18delinsGG (p.Pro6Arg)	LOC129992613, TMEM165 (P6R)	Indel (missense variant +1 more)	TMEM165-congenital disorder of glycosylation	GUncertain significance
Select item 193395	NM_018475.5(TMEM165):c.18A>G (p.Pro6=)	LOC129992613, TMEM165	Single nucleotide variant (synonymous variant +1 more)	not specified +2 more	GBenign
Select item 386518	NM_018475.5(TMEM165):c.27C>G (p.Gly9=)	LOC129992613, TMEM165	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 2195213	NM_018475.5(TMEM165):c.30C>G (p.Arg10=)	LOC129992613, TMEM165	Single nucleotide variant (synonymous variant +1 more)	TMEM165-congenital disorder of glycosylation	GLikely benign
Select item 1898585	NM_018475.5(TMEM165):c.35C>G (p.Ser12Trp)	TMEM165, LOC129992613 (S12W)	Single nucleotide variant (missense variant +1 more)	TMEM165-congenital disorder of glycosylation	GUncertain significance
Select item 1032804	NM_018475.5(TMEM165):c.40C>T (p.Pro14Ser)	LOC129992613, TMEM165 (P14S)	Single nucleotide variant (non-coding transcript variant +1 more)	TMEM165-congenital disorder of glycosylation	GUncertain significance
Select item 1422392	NM_018475.5(TMEM165):c.41C>T (p.Pro14Leu)	LOC129992613, TMEM165 (P14L)	Single nucleotide variant (missense variant +1 more)	TMEM165-congenital disorder of glycosylation	GUncertain significance
Select item 1930916	NM_018475.5(TMEM165):c.43C>T (p.Arg15Trp)	LOC129992613, TMEM165 (R15W)	Single nucleotide variant (missense variant +1 more)	TMEM165-congenital disorder of glycosylation	GUncertain significance
Select item 976570	NM_018475.5(TMEM165):c.52C>A (p.Leu18Met)	LOC129992613, TMEM165 (L18M)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 682139	NM_018475.5(TMEM165):c.54G>A (p.Leu18=)	LOC129992613, TMEM165	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 more	GLikely benign
Select item 1612904	NM_018475.5(TMEM165):c.63G>C (p.Leu21=)	LOC129992613, TMEM165	Single nucleotide variant (synonymous variant +1 more)	TMEM165-congenital disorder of glycosylation	GLikely benign
Select item 2309426	NM_018475.5(TMEM165):c.74T>C (p.Leu25Pro)	LOC129992613, TMEM165 (L25P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1720665	NM_018475.5(TMEM165):c.82C>G (p.Pro28Ala)	LOC129992613, TMEM165 (P28A)	Single nucleotide variant (missense variant +1 more)	TMEM165-congenital disorder of glycosylation	GUncertain significance
Select item 976571	NM_018475.5(TMEM165):c.92T>C (p.Val31Ala)	LOC129992613, TMEM165 (V31A)	Single nucleotide variant (missense variant +1 more)	TMEM165-congenital disorder of glycosylation	GUncertain significance
Select item 1612289	NM_018475.5(TMEM165):c.96G>T (p.Arg32=)	LOC129992613, TMEM165	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GBenign/Likely benign
Select item 1401006	NM_018475.5(TMEM165):c.97G>A (p.Ala33Thr)	LOC129992613, TMEM165 (A33T)	Single nucleotide variant (missense variant +1 more)	TMEM165-congenital disorder of glycosylation	GUncertain significance
Select item 2066563	NM_018475.5(TMEM165):c.123C>T (p.His41=)	LOC129992613, TMEM165	Single nucleotide variant (synonymous variant +1 more)	TMEM165-congenital disorder of glycosylation	GLikely benign
Select item 1937586	NM_018475.5(TMEM165):c.124C>T (p.Arg42Trp)	LOC129992613, TMEM165 (R42W)	Single nucleotide variant (missense variant +1 more)	TMEM165-congenital disorder of glycosylation	GUncertain significance
Select item 2252202	NM_018475.5(TMEM165):c.133G>C (p.Glu45Gln)	LOC129992613, TMEM165 (E45Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2041048	NM_018475.5(TMEM165):c.138G>A (p.Pro46=)	LOC129992613, TMEM165	Single nucleotide variant (synonymous variant +1 more)	TMEM165-congenital disorder of glycosylation	GLikely benign
Select item 1715729	NM_018475.5(TMEM165):c.143C>T (p.Ala48Val)	LOC129992613, TMEM165 (A48V)	Single nucleotide variant (missense variant +1 more)	TMEM165-congenital disorder of glycosylation	GUncertain significance
Select item 593154	NM_018475.5(TMEM165):c.151C>T (p.Gln51Ter)	LOC129992613, TMEM165 (Q51*)	Single nucleotide variant (nonsense +1 more)	not provided	GLikely pathogenic
Select item 1911342	NM_018475.5(TMEM165):c.163C>G (p.Pro55Ala)	LOC129992613, TMEM165 (P55A)	Single nucleotide variant (missense variant +1 more)	TMEM165-congenital disorder of glycosylation	GUncertain significance
Select item 1060970	NM_018475.5(TMEM165):c.164C>A (p.Pro55Gln)	LOC129992613, TMEM165 (P55Q)	Single nucleotide variant (missense variant +1 more)	TMEM165-congenital disorder of glycosylation	GUncertain significance
Select item 2481917	NM_018475.5(TMEM165):c.166C>G (p.Gln56Glu)	LOC129992613, TMEM165 (Q56E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2736332	NM_018475.5(TMEM165):c.185G>T (p.Gly62Val)	LOC129992613, TMEM165 (G62V)	Single nucleotide variant (missense variant +1 more)	TMEM165-congenital disorder of glycosylation	GUncertain significance
Select item 1480813	NM_018475.5(TMEM165):c.191A>G (p.Glu64Gly)	LOC129992613, TMEM165 (E64G)	Single nucleotide variant (missense variant +1 more)	TMEM165-congenital disorder of glycosylation	GUncertain significance
Select item 2437109	NM_018475.5(TMEM165):c.196G>T (p.Ala66Ser)	LOC129992613, TMEM165 (A66S)	Single nucleotide variant (missense variant +1 more)	TMEM165-congenital disorder of glycosylation	GUncertain significance
Select item 976572	NM_018475.5(TMEM165):c.199C>T (p.Arg67Trp)	LOC129992613, TMEM165 (R67W)	Single nucleotide variant (missense variant +1 more)	TMEM165-congenital disorder of glycosylation	GUncertain significance
Select item 511191	NM_018475.5(TMEM165):c.199C>A (p.Arg67=)	LOC129992613, TMEM165	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 727079	NM_018475.5(TMEM165):c.204C>G (p.Val68=)	LOC129992613, TMEM165	Single nucleotide variant (synonymous variant +1 more)	TMEM165-congenital disorder of glycosylation	GLikely benign
Select item 1020581	NM_018475.5(TMEM165):c.207+3G>A	LOC129992613, TMEM165	Single nucleotide variant (intron variant)	TMEM165-congenital disorder of glycosylation	GUncertain significance
Select item 2143252	NM_018475.5(TMEM165):c.207+16T>C	LOC129992613, TMEM165	Single nucleotide variant (intron variant)	TMEM165-congenital disorder of glycosylation	GLikely benign
Select item 1325921	NM_018475.5(TMEM165):c.207+131G>A	LOC129992613, TMEM165	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1284228	NM_018475.5(TMEM165):c.207+178C>G	LOC129992613, TMEM165	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1693062	NM_018475.5(TMEM165):c.208-230C>T	TMEM165	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1326223	NM_018475.5(TMEM165):c.208-148G>A	TMEM165	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1985991	NM_018475.5(TMEM165):c.208-16G>A	TMEM165	Single nucleotide variant (intron variant)	TMEM165-congenital disorder of glycosylation	GLikely benign
Select item 2415941	NM_018475.5(TMEM165):c.208-15A>T	TMEM165	Single nucleotide variant (intron variant)	TMEM165-congenital disorder of glycosylation	GLikely benign
Select item 1598540	NM_018475.5(TMEM165):c.208-5dup	TMEM165	Duplication (intron variant)	TMEM165-congenital disorder of glycosylation	GBenign
Select item 1600769	NM_018475.5(TMEM165):c.208-5del	TMEM165	Deletion (intron variant)	TMEM165-congenital disorder of glycosylation	GBenign
Select item 755734	NM_018475.5(TMEM165):c.208-9T>C	TMEM165	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2791919	NM_018475.5(TMEM165):c.218C>T (p.Thr73Ile)	TMEM165 (T73I)	Single nucleotide variant (missense variant +1 more)	TMEM165-congenital disorder of glycosylation	GUncertain significance
Select item 1398878	NM_018475.5(TMEM165):c.226G>C (p.Ala76Pro)	TMEM165 (A76P)	Single nucleotide variant (missense variant +1 more)	TMEM165-congenital disorder of glycosylation	GUncertain significance
Select item 1980924	NM_018475.5(TMEM165):c.242A>G (p.Asn81Ser)	TMEM165 (N81S)	Single nucleotide variant (missense variant +1 more)	TMEM165-congenital disorder of glycosylation	GUncertain significance
Select item 380191	NM_018475.5(TMEM165):c.294C>T (p.Val98=)	TMEM165	Single nucleotide variant (synonymous variant +1 more)	TMEM165-congenital disorder of glycosylation +1 more	GConflicting classifications of pathogenicity
Select item 2148642	NM_018475.5(TMEM165):c.295G>A (p.Ala99Thr)	TMEM165 (A99T)	Single nucleotide variant (missense variant +1 more)	TMEM165-congenital disorder of glycosylation	GUncertain significance
Select item 905839	NM_018475.5(TMEM165):c.351A>G (p.Ala117=)	TMEM165	Single nucleotide variant (synonymous variant +1 more)	TMEM165-congenital disorder of glycosylation	GConflicting classifications of pathogenicity
Select item 35520	NM_018475.5(TMEM165):c.376C>T (p.Arg126Cys)	TMEM165 (R126C)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 35519	NM_018475.5(TMEM165):c.377G>A (p.Arg126His)	TMEM165 (R126H)	Single nucleotide variant (missense variant +1 more)	TMEM165-congenital disorder of glycosylation	GPathogenic
Select item 2173287	NM_018475.5(TMEM165):c.384C>T (p.Thr128=)	TMEM165	Single nucleotide variant (synonymous variant +1 more)	TMEM165-congenital disorder of glycosylation	GLikely benign
Select item 2085118	NM_018475.5(TMEM165):c.400A>G (p.Met134Val)	TMEM165 (M134V)	Single nucleotide variant (missense variant +1 more)	TMEM165-congenital disorder of glycosylation	GUncertain significance
Select item 2912811	NM_018475.5(TMEM165):c.402G>A (p.Met134Ile)	TMEM165 (M134I)	Single nucleotide variant (missense variant +1 more)	TMEM165-congenital disorder of glycosylation	GUncertain significance
Select item 2126943	NM_018475.5(TMEM165):c.427T>C (p.Leu143=)	TMEM165	Single nucleotide variant (synonymous variant +1 more)	TMEM165-congenital disorder of glycosylation	GLikely benign
Select item 2128627	NM_018475.5(TMEM165):c.433+7G>A	TMEM165	Single nucleotide variant (intron variant)	TMEM165-congenital disorder of glycosylation	GLikely benign
Select item 3036781	NM_018475.5(TMEM165):c.433+9G>A	TMEM165	Single nucleotide variant (intron variant)	TMEM165-related disorder	GLikely benign
Select item 349065	NM_018475.5(TMEM165):c.433+15C>A	TMEM165	Single nucleotide variant (intron variant)	TMEM165-congenital disorder of glycosylation +1 more	GConflicting classifications of pathogenicity
Select item 2993231	NM_018475.5(TMEM165):c.433+17C>T	TMEM165	Single nucleotide variant (intron variant)	TMEM165-congenital disorder of glycosylation	GLikely benign
Select item 680438	NM_018475.5(TMEM165):c.433+20T>G	TMEM165	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1189530	NM_018475.5(TMEM165):c.433+148_433+162del	TMEM165	Microsatellite (intron variant)	not provided	GLikely benign
Select item 1618299	NM_018475.5(TMEM165):c.434-11A>G	TMEM165	Single nucleotide variant (intron variant)	TMEM165-congenital disorder of glycosylation	GLikely benign
Select item 2080797	NM_018475.5(TMEM165):c.462C>A (p.Ile154=)	TMEM165	Single nucleotide variant (synonymous variant +1 more)	TMEM165-congenital disorder of glycosylation	GLikely benign
Select item 2131267	NM_018475.5(TMEM165):c.464C>G (p.Pro155Arg)	TMEM165 (P155R)	Single nucleotide variant (missense variant +1 more)	TMEM165-congenital disorder of glycosylation	GUncertain significance
Select item 2218552	NM_018475.5(TMEM165):c.469G>T (p.Val157Phe)	TMEM165 (V157F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3052243	NM_018475.5(TMEM165):c.489A>C (p.Ser163=)	TMEM165	Single nucleotide variant (synonymous variant +1 more)	TMEM165-related disorder	GLikely benign
Select item 2010960	NM_018475.5(TMEM165):c.495A>G (p.Val165=)	TMEM165	Single nucleotide variant (synonymous variant +1 more)	TMEM165-congenital disorder of glycosylation	GLikely benign
Select item 349066	NM_018475.5(TMEM165):c.506T>C (p.Ile169Thr)	TMEM165 (I169T)	Single nucleotide variant (missense variant +1 more)	TMEM165-congenital disorder of glycosylation	GUncertain significance
Select item 1610524	NM_018475.5(TMEM165):c.507T>A (p.Ile169=)	TMEM165	Single nucleotide variant (synonymous variant +1 more)	TMEM165-congenital disorder of glycosylation	GLikely benign
Select item 2173906	NM_018475.5(TMEM165):c.527G>A (p.Arg176Gln)	TMEM165 (R176Q)	Single nucleotide variant (missense variant +1 more)	TMEM165-congenital disorder of glycosylation	GUncertain significance
Select item 3178930	NM_018475.5(TMEM165):c.581A>C (p.Gln194Pro)	TMEM165 (Q194P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 349067	NM_018475.5(TMEM165):c.602A>G (p.Asp201Gly)	TMEM165 (D201G)	Single nucleotide variant (missense variant +1 more)	TMEM165-congenital disorder of glycosylation	GUncertain significance
Select item 389418	NM_018475.5(TMEM165):c.603T>C (p.Asp201=)	TMEM165	Single nucleotide variant (synonymous variant +1 more)	not specified +1 more	GLikely benign
Select item 2050137	NM_018475.5(TMEM165):c.609+7C>T	TMEM165	Single nucleotide variant (intron variant)	TMEM165-congenital disorder of glycosylation	GLikely benign
Select item 1948524	NM_018475.5(TMEM165):c.612T>G (p.Phe204Leu)	TMEM165 (F204L)	Single nucleotide variant (missense variant +1 more)	TMEM165-congenital disorder of glycosylation	GUncertain significance
Select item 906352	NM_018475.5(TMEM165):c.617G>A (p.Arg206Gln)	TMEM165 (R206Q)	Single nucleotide variant (missense variant +1 more)	TMEM165-congenital disorder of glycosylation	GUncertain significance
Select item 2693058	NM_018475.5(TMEM165):c.639G>A (p.Pro213=)	TMEM165	Single nucleotide variant (non-coding transcript variant +1 more)	TMEM165-congenital disorder of glycosylation	GLikely benign
Select item 1463474	NM_018475.5(TMEM165):c.652A>G (p.Thr218Ala)	TMEM165 (T218A)	Single nucleotide variant (missense variant +1 more)	TMEM165-congenital disorder of glycosylation	GUncertain significance
Select item 1433095	NM_018475.5(TMEM165):c.653C>T (p.Thr218Met)	TMEM165 (T218M)	Single nucleotide variant (missense variant +1 more)	TMEM165-congenital disorder of glycosylation	GUncertain significance
Select item 757008	NM_018475.5(TMEM165):c.660A>C (p.Thr220=)	TMEM165	Single nucleotide variant (synonymous variant +1 more)	TMEM165-congenital disorder of glycosylation	GLikely benign
Select item 2247036	NM_018475.5(TMEM165):c.661A>G (p.Ser221Gly)	TMEM165 (S221G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1345250	NM_018475.5(TMEM165):c.690G>C (p.Leu230Phe)	TMEM165 (L230F)	Single nucleotide variant (missense variant +1 more)	TMEM165-congenital disorder of glycosylation	GUncertain significance
Select item 2298678	NM_018475.5(TMEM165):c.700T>C (p.Ser234Pro)	TMEM165 (S234P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2537778	NM_018475.5(TMEM165):c.712G>C (p.Val238Leu)	TMEM165 (V238L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance

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