ClinVar for Gene (Select 55151) - ClinVar - NCBI

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

Links from Gene

Items: 1 to 100 of 217

<< First< Prev

Page of 3

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3346147	NM_018112.3(TMEM38B):c.725_726delinsCT (p.Trp242Ser)	TMEM38B (W242S)	Indel (missense variant)	TMEM38B-related disorder	GUncertain significance
Select item 3336083	NM_018112.3(TMEM38B):c.218C>T (p.Pro73Leu)	TMEM38B (P73L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3327086	NM_018112.3(TMEM38B):c.640A>G (p.Ile214Val)	TMEM38B (I214V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3245361	NC_000009.11:g.(?_108510334)_(108536361_?)del	TMEM38B	Deletion	not provided	GUncertain significance
Select item 3245360	NC_000009.11:g.(?_108456942)_(108468054_?)del	TMEM38B	Deletion	not provided	GPathogenic
Select item 3245359	NC_000009.11:g.(?_108467858)_(108468054_?)del	TMEM38B	Deletion	not provided	GPathogenic
Select item 3179449	NM_018112.3(TMEM38B):c.575T>C (p.Ile192Thr)	TMEM38B (I192T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3179448	NM_018112.3(TMEM38B):c.553G>T (p.Val185Leu)	TMEM38B (V185L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3179446	NM_018112.3(TMEM38B):c.301G>C (p.Val101Leu)	TMEM38B (V101L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3064997	NM_018112.3(TMEM38B):c.455-64_542+7del	TMEM38B	Deletion (splice acceptor variant +1 more)	Osteogenesis imperfecta type 14	GLikely pathogenic
Select item 3063086	GRCh37/hg19 9q31.2(chr9:108443820-108476067)x1	TMEM38B	Copy number loss	not specified	GUncertain significance
Select item 3063071	GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020389)x3	DMAC1, DMRT1 +769 more	Copy number gain	not specified	GPathogenic
Select item 3063058	GRCh37/hg19 9q31.1-31.2(chr9:102606857-109839724)x1	ABCA1, ALDOB +34 more	Copy number loss	not specified	GPathogenic
Select item 2988606	NM_018112.3(TMEM38B):c.15G>A (p.Trp5Ter)	TMEM38B (W5*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2957855	NM_018112.3(TMEM38B):c.732A>G (p.Leu244=)	TMEM38B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2955713	NM_018112.3(TMEM38B):c.660+12A>G	TMEM38B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2917999	NM_018112.3(TMEM38B):c.344C>T (p.Ser115Leu)	TMEM38B (S115L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2899591	NM_018112.3(TMEM38B):c.476C>T (p.Thr159Met)	TMEM38B (T159M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2897328	NM_018112.3(TMEM38B):c.258A>G (p.Ala86=)	TMEM38B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2896033	NM_018112.3(TMEM38B):c.270-9C>A	TMEM38B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2879220	NM_018112.3(TMEM38B):c.543-17del	TMEM38B	Deletion (intron variant)	not provided	GBenign
Select item 2876012	NM_018112.3(TMEM38B):c.495A>T (p.Val165=)	TMEM38B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2869687	NM_018112.3(TMEM38B):c.542+2T>G	TMEM38B	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 2858565	NM_018112.3(TMEM38B):c.661-12T>C	TMEM38B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2835777	NM_018112.3(TMEM38B):c.253C>T (p.Leu85=)	TMEM38B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2811190	NM_018112.3(TMEM38B):c.184G>A (p.Gly62Arg)	TMEM38B (G62R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2784416	NM_018112.3(TMEM38B):c.331C>T (p.Gln111Ter)	TMEM38B (Q111*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2779706	NM_018112.3(TMEM38B):c.477G>A (p.Thr159=)	TMEM38B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2747250	NM_018112.3(TMEM38B):c.780A>T (p.Ala260=)	TMEM38B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2745969	NM_018112.3(TMEM38B):c.112+14G>T	TMEM38B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2740598	NM_018112.3(TMEM38B):c.492G>A (p.Leu164=)	TMEM38B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2740160	NM_018112.3(TMEM38B):c.651G>A (p.Val217=)	TMEM38B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2698585	NM_018112.3(TMEM38B):c.158C>G (p.Thr53Ser)	TMEM38B (T53S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2698038	NM_018112.3(TMEM38B):c.408T>G (p.Tyr136Ter)	TMEM38B (Y136*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2685357	GRCh37/hg19 9q31.2(chr9:108382469-108494782)x1	FKTN, TAL2 +1 more	Copy number loss	not provided	GUncertain significance
Select item 2671591	Single allele	CARD19, MIR24-1 +106 more	Deletion	not provided	GPathogenic
Select item 2632921	NM_018112.3(TMEM38B):c.712_722del (p.Asp238fs)	TMEM38B (D238fs)	Deletion (frameshift variant)	TMEM38B-related disorder	GUncertain significance
Select item 2611787	NM_018112.3(TMEM38B):c.505T>C (p.Trp169Arg)	TMEM38B (W169R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2579281	GRCh38/hg38 9q31.1-31.3(chr9:102995214-108903040)x1	ABCA1, ACTL7A +109 more	Copy number loss	Weiss-Kruszka syndrome	GPathogenic
Select item 2557159	NM_018112.3(TMEM38B):c.457G>A (p.Ala153Thr)	TMEM38B (A153T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2539871	NM_018112.3(TMEM38B):c.179G>T (p.Gly60Val)	TMEM38B (G60V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2528197	NM_018112.3(TMEM38B):c.5A>C (p.Asp2Ala)	TMEM38B (D2A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2501234	NM_018112.3(TMEM38B):c.532A>T (p.Lys178Ter)	TMEM38B (K178*)	Single nucleotide variant (nonsense)	Osteogenesis imperfecta	GLikely pathogenic
Select item 2494557	NM_018112.3(TMEM38B):c.374A>G (p.Lys125Arg)	TMEM38B (K125R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2445843	NC_000009.11:g.(108484903_108510353)_(108538893_?)del	TMEM38B	Deletion	Osteogenesis imperfecta	GLikely pathogenic
Select item 2429269	NM_018112.3(TMEM38B):c.3G>A (p.Met1Ile)	TMEM38B (M1I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2426439	NC_000009.11:g.(?_108536126)_(108536361_?)dup	TMEM38B	Duplication	not provided	GUncertain significance
Select item 2426438	NC_000009.11:g.(?_108467858)_(108536361_?)del	TMEM38B	Deletion	not provided	GPathogenic
Select item 2426437	NC_000009.11:g.(?_108456942)_(108536361_?)del	TMEM38B	Deletion	not provided	GPathogenic
Select item 2423632	NC_000009.11:g.(?_107546596)_(108536361_?)dup	ABCA1, FKTN +4 more	Duplication	Walker-Warburg congenital muscular dystrophy	GUncertain significance
Select item 2423629	NC_000009.11:g.(?_108358859)_(108484922_?)del	FKTN, TAL2 +1 more	Deletion	Walker-Warburg congenital muscular dystrophy	GPathogenic
Select item 2302794	NM_018112.3(TMEM38B):c.169C>T (p.His57Tyr)	TMEM38B (H57Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2290771	NM_018112.3(TMEM38B):c.703C>T (p.Pro235Ser)	TMEM38B (P235S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2289024	NM_018112.3(TMEM38B):c.103C>A (p.Arg35Ser)	TMEM38B (R35S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2274634	NM_018112.3(TMEM38B):c.857A>C (p.His286Pro)	TMEM38B (H286P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2170069	NM_018112.3(TMEM38B):c.512C>T (p.Pro171Leu)	TMEM38B (P171L)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2116996	NM_018112.3(TMEM38B):c.237C>A (p.Asn79Lys)	TMEM38B (N79K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2114114	NM_018112.3(TMEM38B):c.548C>G (p.Ala183Gly)	TMEM38B (A183G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2082548	NM_018112.3(TMEM38B):c.335T>C (p.Leu112Pro)	TMEM38B (L112P)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2082033	NM_018112.3(TMEM38B):c.647T>C (p.Ile216Thr)	TMEM38B (I216T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2077559	NM_018112.3(TMEM38B):c.291G>A (p.Pro97=)	TMEM38B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2068647	NM_018112.3(TMEM38B):c.290C>T (p.Pro97Leu)	TMEM38B (P97L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2065239	NM_018112.3(TMEM38B):c.185G>A (p.Gly62Glu)	TMEM38B (G62E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2057795	NM_018112.3(TMEM38B):c.788C>T (p.Pro263Leu)	TMEM38B (P263L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2042599	NM_018112.3(TMEM38B):c.449C>T (p.Ala150Val)	TMEM38B (A150V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2033235	NM_018112.3(TMEM38B):c.455-21_455-17del	TMEM38B	Deletion (intron variant)	not provided	GLikely benign
Select item 2029982	NM_018112.3(TMEM38B):c.210A>G (p.Ala70=)	TMEM38B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2013757	NM_018112.3(TMEM38B):c.33C>G (p.Ala11=)	TMEM38B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2010668	NM_018112.3(TMEM38B):c.652G>A (p.Ala218Thr)	TMEM38B (A218T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1976549	NM_018112.3(TMEM38B):c.835T>A (p.Ser279Thr)	TMEM38B (S279T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1972209	NM_018112.3(TMEM38B):c.153G>T (p.Trp51Cys)	TMEM38B (W51C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1963687	NM_018112.3(TMEM38B):c.2T>C (p.Met1Thr)	TMEM38B (M1T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1958032	NM_018112.3(TMEM38B):c.311G>T (p.Gly104Val)	TMEM38B (G104V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1935126	NM_018112.3(TMEM38B):c.392C>T (p.Thr131Ile)	TMEM38B (T131I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1932965	NM_018112.3(TMEM38B):c.689C>G (p.Thr230Ser)	TMEM38B (T230S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1931695	NM_018112.3(TMEM38B):c.141T>C (p.Pro47=)	TMEM38B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1925655	NM_018112.3(TMEM38B):c.270-19G>T	TMEM38B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1925318	NM_018112.3(TMEM38B):c.129A>G (p.Ala43=)	TMEM38B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1924818	NM_018112.3(TMEM38B):c.873A>G (p.Glu291=)	TMEM38B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1904806	NM_018112.3(TMEM38B):c.437C>T (p.Ala146Val)	TMEM38B (A146V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1723336	NC_000009.11:g.(?_108456805)_(108468035_108483817)del	TMEM38B	Deletion	Osteogenesis imperfecta	GPathogenic
Select item 1711101	GRCh37/hg19 9p24.3-q34.11(chr9:203861-131603223)x3	ADAMTSL1, CEP78 +596 more	Copy number gain	See cases	GPathogenic
Select item 1704584	NC_000009.11:g.(108510472_108536145)_(108538893_?)del	TMEM38B	Deletion	not specified	GUncertain significance
Select item 1703688	GRCh37/hg19 9p22.1-q33.1(chr9:19356861-119513311)	ATOSB, ATP6V1G1 +417 more	Copy number loss	Distal tetrasomy 15q	GUncertain significance
Select item 1702070	NM_018112.3(TMEM38B):c.526T>C (p.Trp176Arg)	TMEM38B (W176R)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta	GUncertain significance
Select item 1702069	NM_018112.3(TMEM38B):c.390C>A (p.Val130=)	TMEM38B	Single nucleotide variant (synonymous variant)	Osteogenesis imperfecta	GUncertain significance
Select item 1702068	NM_018112.3(TMEM38B):c.341C>T (p.Ala114Val)	TMEM38B (A114V)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 1696355	NM_018112.3(TMEM38B):c.-10G>A	TMEM38B	Single nucleotide variant (5 prime UTR variant)	not specified	GUncertain significance
Select item 1696354	NM_018112.3(TMEM38B):c.319T>C (p.Tyr107His)	TMEM38B (Y107H)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1677411	NM_018112.3(TMEM38B):c.848A>G (p.Lys283Arg)	TMEM38B (K283R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1672506	NM_018112.3(TMEM38B):c.324A>G (p.Leu108=)	TMEM38B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1671830	NM_018112.3(TMEM38B):c.269+14A>G	TMEM38B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1661672	NM_018112.3(TMEM38B):c.220T>C (p.Leu74=)	TMEM38B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1638184	NM_018112.3(TMEM38B):c.660+20A>G	TMEM38B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1638116	NM_018112.3(TMEM38B):c.543-16T>C	TMEM38B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1632784	NM_018112.3(TMEM38B):c.112+10G>A	TMEM38B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1628208	NM_018112.3(TMEM38B):c.72G>A (p.Ala24=)	TMEM38B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1620205	NM_018112.3(TMEM38B):c.455-8A>G	TMEM38B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1585807	NM_018112.3(TMEM38B):c.270-4T>G	TMEM38B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1584279	NM_018112.3(TMEM38B):c.493G>C (p.Val165Leu)	TMEM38B (V165L)	Single nucleotide variant (missense variant)	not provided	GBenign

<< First< Prev

Page of 3