ClinVar for MedGen (Select 766485) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3003272	NM_018475.5(TMEM165):c.781G>A (p.Ala261Thr)	TMEM165 (A261T)	Single nucleotide variant (missense variant +1 more)	TMEM165-congenital disorder of glycosylation	GUncertain significance
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 2980874	NM_018475.5(TMEM165):c.898+16T>C	TMEM165	Single nucleotide variant (intron variant)	TMEM165-congenital disorder of glycosylation	GLikely benign
Select item 2971063	NM_018475.5(TMEM165):c.899-9C>G	TMEM165	Single nucleotide variant (intron variant)	TMEM165-congenital disorder of glycosylation	GLikely benign
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 2900208	NM_018475.5(TMEM165):c.831C>T (p.His277=)	TMEM165	Single nucleotide variant (synonymous variant +1 more)	TMEM165-congenital disorder of glycosylation	GLikely benign
Select item 2845405	NM_018475.5(TMEM165):c.777A>G (p.Val259=)	TMEM165	Single nucleotide variant (synonymous variant +1 more)	TMEM165-congenital disorder of glycosylation	GLikely benign
Select item 2829940	NM_018475.5(TMEM165):c.793-16dup	TMEM165	Duplication (intron variant)	TMEM165-congenital disorder of glycosylation	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 2791242	NM_018475.5(TMEM165):c.898+8T>A	TMEM165	Single nucleotide variant (intron variant)	TMEM165-congenital disorder of glycosylation	GLikely benign
Select item 2768393	NM_018475.5(TMEM165):c.747G>A (p.Trp249Ter)	TMEM165 (W249*)	Single nucleotide variant (nonsense +1 more)	TMEM165-congenital disorder of glycosylation	GPathogenic
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 2693058	NM_018475.5(TMEM165):c.639G>A (p.Pro213=)	TMEM165	Single nucleotide variant (synonymous variant +1 more)	TMEM165-congenital disorder of glycosylation	GLikely benign
Select item 2692915	NM_018475.5(TMEM165):c.849G>A (p.Leu283=)	TMEM165	Single nucleotide variant (synonymous variant +1 more)	TMEM165-congenital disorder of glycosylation	GLikely benign
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 2426476	NC_000004.11:g.(?_55124936)_(57368027_?)del	AASDH, CEP135 +13 more	Deletion	not provided	GPathogenic
Select item 2415992	NM_018475.5(TMEM165):c.772A>G (p.Ile258Val)	TMEM165 (I258V)	Single nucleotide variant (missense variant +1 more)	TMEM165-congenital disorder of glycosylation	GUncertain significance
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 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 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 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 2169281	NM_018475.5(TMEM165):c.929C>T (p.Ala310Val)	TMEM165 (A310V)	Single nucleotide variant (missense variant +1 more)	TMEM165-congenital disorder of glycosylation	GUncertain significance
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 2146162	NM_018475.5(TMEM165):c.723T>C (p.Leu241=)	TMEM165	Single nucleotide variant (synonymous variant +1 more)	TMEM165-congenital disorder of glycosylation	GLikely benign
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 2139473	NM_018475.5(TMEM165):c.778T>C (p.Leu260=)	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 2128627	NM_018475.5(TMEM165):c.433+7G>A	TMEM165	Single nucleotide variant (intron variant)	TMEM165-congenital disorder of glycosylation	GLikely benign
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 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 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 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 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 2055817	NM_018475.5(TMEM165):c.724A>T (p.Thr242Ser)	TMEM165 (T242S)	Single nucleotide variant (missense variant +1 more)	TMEM165-congenital disorder of glycosylation	GUncertain significance
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 2046570	NM_018475.5(TMEM165):c.733_738del (p.Phe245_Leu246del)	TMEM165	Deletion (inframe_deletion +1 more)	TMEM165-congenital disorder of glycosylation	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 2035868	NM_018475.5(TMEM165):c.898+19A>C	TMEM165	Single nucleotide variant (intron variant)	TMEM165-congenital disorder of glycosylation	GLikely benign
Select item 2017967	NM_018475.5(TMEM165):c.899-14T>C	TMEM165	Single nucleotide variant (intron variant)	TMEM165-congenital disorder of glycosylation	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 1985991	NM_018475.5(TMEM165):c.208-16G>A	TMEM165	Single nucleotide variant (intron variant)	TMEM165-congenital disorder of glycosylation	GLikely benign
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 1949989	NM_018475.5(TMEM165):c.8C>T (p.Ala3Val)	LOC129992613, TMEM165 (A3V)	Single nucleotide variant (missense variant +1 more)	TMEM165-congenital disorder of glycosylation	GUncertain significance
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 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 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 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 1909587	NM_018475.5(TMEM165):c.712G>A (p.Val238Ile)	TMEM165 (V238I)	Single nucleotide variant (missense variant +1 more)	TMEM165-congenital disorder of glycosylation	GUncertain significance
Select item 1898585	NM_018475.5(TMEM165):c.35C>G (p.Ser12Trp)	LOC129992613, TMEM165 (S12W)	Single nucleotide variant (missense variant +1 more)	TMEM165-congenital disorder of glycosylation	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 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 1625521	NM_018475.5(TMEM165):c.816T>G (p.Gly272=)	TMEM165	Single nucleotide variant (synonymous variant +1 more)	TMEM165-congenital disorder of glycosylation	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 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 1612289	NM_018475.5(TMEM165):c.96G>T (p.Arg32=)	LOC129992613, TMEM165	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign/Likely benign
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 1600769	NM_018475.5(TMEM165):c.208-5del	TMEM165	Deletion (intron variant)	TMEM165-congenital disorder of glycosylation	GBenign
Select item 1598540	NM_018475.5(TMEM165):c.208-5dup	TMEM165	Duplication (intron variant)	TMEM165-congenital disorder of glycosylation	GBenign
Select item 1590811	NM_018475.5(TMEM165):c.793-12G>A	TMEM165	Single nucleotide variant (intron variant)	TMEM165-congenital disorder of glycosylation	GLikely benign
Select item 1546504	NM_018475.5(TMEM165):c.793-13C>T	TMEM165	Single nucleotide variant (intron variant)	TMEM165-congenital disorder of glycosylation	GLikely benign
Select item 1521188	NM_018475.5(TMEM165):c.792+4_792+5insTATTTGA	TMEM165	Insertion (splice donor variant)	TMEM165-congenital disorder of glycosylation	GUncertain significance
Select item 1503858	NM_018475.5(TMEM165):c.731C>T (p.Thr244Ile)	TMEM165 (T244I)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	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 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 1433363	NC_000004.11:g.(?_55124936)_(57798318_?)dup	AASDH, ARL9 +18 more	Duplication	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)	not provided +1 more	GUncertain significance
Select item 1430183	NM_018475.5(TMEM165):c.811G>A (p.Val271Met)	TMEM165 (V271M)	Single nucleotide variant (missense variant +1 more)	TMEM165-congenital disorder of glycosylation	GUncertain significance
Select item 1423290	NM_018475.5(TMEM165):c.899-6T>G	TMEM165	Single nucleotide variant (intron variant)	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 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 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 1384289	NM_018475.5(TMEM165):c.898+3A>G	TMEM165	Single nucleotide variant (intron variant)	TMEM165-congenital disorder of glycosylation	GUncertain significance
Select item 1374146	NM_018475.5(TMEM165):c.833G>A (p.Cys278Tyr)	TMEM165 (C278Y)	Single nucleotide variant (missense variant +1 more)	TMEM165-congenital disorder of glycosylation	GUncertain significance
Select item 1349506	NM_018475.5(TMEM165):c.824T>C (p.Val275Ala)	TMEM165 (V275A)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	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 1063540	NM_018475.5(TMEM165):c.952A>G (p.Ile318Val)	TMEM165 (I318V)	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 1032804	NM_018475.5(TMEM165):c.40C>T (p.Pro14Ser)	LOC129992613, TMEM165 (P14S)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
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 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 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 976570	NM_018475.5(TMEM165):c.52C>A (p.Leu18Met)	TMEM165, LOC129992613 (L18M)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 967588	NM_018475.5(TMEM165):c.811G>T (p.Val271Leu)	TMEM165 (V271L)	Single nucleotide variant (missense variant +1 more)	TMEM165-congenital disorder of glycosylation	GUncertain significance
Select item 907357	NM_018475.5(TMEM165):c.*436T>C	TMEM165	Single nucleotide variant (3 prime UTR variant +1 more)	TMEM165-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 906353	NM_018475.5(TMEM165):c.*121T>A	TMEM165	Single nucleotide variant (3 prime UTR 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 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 904024	NM_018475.5(TMEM165):c.*643A>G	TMEM165	Single nucleotide variant (3 prime UTR variant +1 more)	TMEM165-congenital disorder of glycosylation	GUncertain significance
Select item 904023	NM_018475.5(TMEM165):c.*627A>C	TMEM165	Single nucleotide variant (3 prime UTR 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 742058	NM_018475.5(TMEM165):c.930G>A (p.Ala310=)	TMEM165	Single nucleotide variant (synonymous variant +1 more)	TMEM165-congenital disorder of glycosylation	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 702600	NM_018475.5(TMEM165):c.921T>G (p.Val307=)	TMEM165	Single nucleotide variant (synonymous variant +1 more)	TMEM165-congenital disorder of glycosylation	GBenign
Select item 682139	NM_018475.5(TMEM165):c.54G>A (p.Leu18=)	LOC129992613, TMEM165	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 513171	NM_018475.5(TMEM165):c.15T>C (p.Ala5=)	TMEM165, LOC129992613	Single nucleotide variant (synonymous variant +1 more)	not specified +1 more	GLikely benign
Select item 473210	NM_018475.5(TMEM165):c.892A>G (p.Arg298Gly)	TMEM165 (R298G)	Single nucleotide variant (missense variant +1 more)	TMEM165-congenital disorder of glycosylation	GUncertain significance
Select item 421122	NM_018475.5(TMEM165):c.899-14TC[3]	TMEM165	Microsatellite (intron variant)	not provided +1 more	GLikely benign
Select item 389418	NM_018475.5(TMEM165):c.603T>C (p.Asp201=)	TMEM165	Single nucleotide variant (synonymous variant +1 more)	TMEM165-congenital disorder of glycosylation +1 more	GLikely benign
Select item 384567	NM_018475.5(TMEM165):c.899-17T>A	TMEM165	Single nucleotide variant (intron variant)	TMEM165-congenital disorder of glycosylation +1 more	GLikely benign

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