ClinVar for Gene (Select 100534611) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3326462	NM_138461.4(TM4SF19):c.7T>G (p.Ser3Ala)	TM4SF19, TM4SF19-DYNLT2B (S3A)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3326461	NM_138461.4(TM4SF19):c.535G>A (p.Ala179Thr)	TM4SF19, TM4SF19-AS1 +1 more (A179T +1 more)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GLikely benign
Select item 3326460	NM_138461.4(TM4SF19):c.*42C>T	TM4SF19, TM4SF19-AS1 +1 more (S223L)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GLikely benign
Select item 3274215	NM_152773.5(DYNLT2B):c.46C>T (p.Pro16Ser)	DYNLT2B, LOC129938285 +1 more (P16S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3178113	NM_138461.4(TM4SF19):c.*87A>G	TM4SF19, TM4SF19-AS1 +1 more (N238S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3178112	NM_138461.4(TM4SF19):c.591C>T (p.Asn197=)	TM4SF19, TM4SF19-AS1 +1 more (T196I)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 3178111	NM_138461.4(TM4SF19):c.556C>T (p.Leu186Phe)	TM4SF19, TM4SF19-AS1 +1 more (L186F +1 more)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GLikely benign
Select item 3178110	NM_138461.4(TM4SF19):c.534C>T (p.Ser178=)	TM4SF19, TM4SF19-AS1 +1 more (P177L)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 3178109	NM_138461.4(TM4SF19):c.47G>A (p.Arg16His)	TM4SF19, TM4SF19-DYNLT2B (R16H)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3178108	NM_138461.4(TM4SF19):c.457C>G (p.Leu153Val)	TM4SF19, TM4SF19-AS1 +1 more (L127V +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3178107	NM_138461.4(TM4SF19):c.37A>G (p.Thr13Ala)	TM4SF19, TM4SF19-DYNLT2B (T13A)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3178106	NM_138461.4(TM4SF19):c.34C>T (p.Arg12Trp)	TM4SF19, TM4SF19-DYNLT2B (R12W)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3178105	NM_138461.4(TM4SF19):c.242G>C (p.Arg81Thr)	TM4SF19, TM4SF19-DYNLT2B (R81T)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 3178104	NM_138461.4(TM4SF19):c.14C>A (p.Pro5His)	TM4SF19, TM4SF19-DYNLT2B (P5H)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3064198	NM_152773.5(DYNLT2B):c.113+6T>C	DYNLT2B, TM4SF19-DYNLT2B	Single nucleotide variant (intron variant)	Short-rib thoracic dysplasia 17 with or without polydactyly	GUncertain significance
Select item 3058419	NM_152773.5(DYNLT2B):c.-4dup	DYNLT2B, LOC129938285 +1 more	Duplication (5 prime UTR variant)	DYNLT2B-related disorder	GLikely benign
Select item 2970073	NM_152773.5(DYNLT2B):c.247+13A>C	DYNLT2B, TM4SF19-DYNLT2B	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2862533	NM_152773.5(DYNLT2B):c.141T>C (p.Cys47=)	DYNLT2B, TM4SF19-DYNLT2B	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2777260	NM_152773.5(DYNLT2B):c.114-16A>G	DYNLT2B, TM4SF19-DYNLT2B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2690240	NM_138461.4(TM4SF19):c.41dup (p.Cys14fs)	TM4SF19, TM4SF19-DYNLT2B (C14fs)	Duplication (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2654510	NC_000003.12:g.196320048T>G	TM4SF19, TM4SF19-AS1 +1 more	Single nucleotide variant	not provided	GLikely benign
Select item 2654509	NC_000003.12:g.196320042A>C	TM4SF19, TM4SF19-AS1 +1 more	Single nucleotide variant	not provided	GLikely benign
Select item 2554169	NM_138461.4(TM4SF19):c.17G>T (p.Cys6Phe)	TM4SF19, TM4SF19-DYNLT2B (C6F)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2520777	NM_138461.4(TM4SF19):c.35G>A (p.Arg12Gln)	TM4SF19, TM4SF19-DYNLT2B (R12Q)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2516641	NM_138461.4(TM4SF19):c.127G>A (p.Val43Ile)	TM4SF19, TM4SF19-DYNLT2B (V43I)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2499658	GRCh38/hg38 3q29(chr3:195950438-197629463)	BDH1, CEP19 +113 more	Copy number loss	See cases	GPathogenic
Select item 2437026	NM_152773.5(DYNLT2B):c.35G>A (p.Gly12Asp)	TM4SF19-DYNLT2B, DYNLT2B +1 more (G12D)	Single nucleotide variant (missense variant)	Short-rib thoracic dysplasia 17 with or without polydactyly	GUncertain significance
Select item 2416035	NM_152773.5(DYNLT2B):c.26T>C (p.Phe9Ser)	DYNLT2B, LOC129938285 +1 more (F9S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2356032	NM_138461.4(TM4SF19):c.178G>A (p.Gly60Arg)	TM4SF19, TM4SF19-DYNLT2B (G60R)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2352857	NM_138461.4(TM4SF19):c.202G>T (p.Val68Leu)	TM4SF19, TM4SF19-DYNLT2B (V68L)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 2347368	NM_138461.4(TM4SF19):c.407A>G (p.Gln136Arg)	TM4SF19, TM4SF19-AS1 +1 more (Q136R +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2345335	NM_138461.4(TM4SF19):c.275G>A (p.Arg92Gln)	TM4SF19, TM4SF19-DYNLT2B (R92Q)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 2313941	NM_138461.4(TM4SF19):c.*8A>G	TM4SF19, TM4SF19-AS1 +1 more (N212D)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 2274069	NM_138461.4(TM4SF19):c.125A>T (p.Asp42Val)	TM4SF19, TM4SF19-DYNLT2B (D42V)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2192829	NM_152773.5(DYNLT2B):c.100G>C (p.Val34Leu)	DYNLT2B, TM4SF19-DYNLT2B (V34L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2192828	NM_152773.5(DYNLT2B):c.104dup (p.Gln36fs)	DYNLT2B, TM4SF19-DYNLT2B (Q36fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 2180537	NM_152773.5(DYNLT2B):c.113+10G>C	DYNLT2B, TM4SF19-DYNLT2B	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2157291	NM_152773.5(DYNLT2B):c.11C>T (p.Ser4Phe)	DYNLT2B, LOC129938285 +1 more (S4F)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2110030	NM_152773.5(DYNLT2B):c.73C>A (p.Pro25Thr)	DYNLT2B, LOC129938285 +1 more (P25T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2083990	NM_152773.5(DYNLT2B):c.10T>A (p.Ser4Thr)	DYNLT2B, LOC129938285 +1 more (S4T)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2037803	NM_152773.5(DYNLT2B):c.161A>G (p.Glu54Gly)	DYNLT2B, TM4SF19-DYNLT2B (E54G)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 1973233	NM_152773.5(DYNLT2B):c.31G>T (p.Val11Leu)	DYNLT2B, LOC129938285 +1 more (V11L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1969060	NM_152773.5(DYNLT2B):c.28T>G (p.Ser10Ala)	DYNLT2B, LOC129938285 +1 more (S10A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1963714	NM_152773.5(DYNLT2B):c.120G>A (p.Arg40=)	DYNLT2B, TM4SF19-DYNLT2B	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 1949611	NM_152773.5(DYNLT2B):c.113+2_113+4dup	DYNLT2B, TM4SF19-DYNLT2B	Duplication (splice donor variant)	not provided	GUncertain significance
Select item 1924723	NM_152773.5(DYNLT2B):c.16G>A (p.Gly6Arg)	DYNLT2B, LOC129938285 +1 more (G6R)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1914949	NM_152773.5(DYNLT2B):c.36C>T (p.Gly12=)	DYNLT2B, LOC129938285 +1 more	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 1895632	NM_152773.5(DYNLT2B):c.36C>A (p.Gly12=)	DYNLT2B, LOC129938285 +1 more	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 1679598	Single allele	LOC129938264, LOC129938265 +114 more	Deletion	Chromosome 3q29 microdeletion syndrome	GPathogenic
Select item 1290749	NM_152773.5(DYNLT2B):c.113+17C>G	DYNLT2B, TM4SF19-DYNLT2B	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1288668	NM_152773.5(DYNLT2B):c.113+242G>C	DYNLT2B, LOC129938284 +1 more	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1232495	NM_152773.5(DYNLT2B):c.113+186G>A	DYNLT2B, LOC129938284 +1 more	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1232152	NM_152773.5(DYNLT2B):c.114-122dup	DYNLT2B, TM4SF19-DYNLT2B	Duplication (intron variant)	not provided	GBenign
Select item 779236	NM_152773.5(DYNLT2B):c.57G>A (p.Glu19=)	DYNLT2B, LOC129938285 +1 more	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 732953	NM_152773.5(DYNLT2B):c.114-1G>A	DYNLT2B, TM4SF19-DYNLT2B	Single nucleotide variant (splice acceptor variant)	not provided	GUncertain significance
Select item 545295	NC_000003.12:g.(?_196154147)_(197376501_?)del	CEP19, DLG1 +85 more	Deletion	Schizophrenia	GPathogenic
Select item 545294	NC_000003.12:g.(?_195990063)_(197617301_?)del	LOC123464504, LOC123464505 +108 more	Deletion	Schizophrenia	GPathogenic
Select item 545293	Single allele	LOC123464504, LOC129938307 +114 more	Duplication	Autism	GLikely pathogenic
Select item 417793	NM_152773.5(DYNLT2B):c.100delinsCT (p.Val34fs)	DYNLT2B, TM4SF19-DYNLT2B (V34fs)	Indel (frameshift variant)	Short-rib thoracic dysplasia 17 with or without polydactyly	GPathogenic
Select item 417791	NM_152773.5(DYNLT2B):c.113+2C>G	TM4SF19-DYNLT2B, DYNLT2B	Single nucleotide variant (splice donor variant)	Short-rib thoracic dysplasia 17 with or without polydactyly	GPathogenic
Select item 252782	NM_138461.4(TM4SF19):c.88G>C (p.Ala30Pro)	TM4SF19, TM4SF19-DYNLT2B (A30P)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified +1 more	GUncertain significance
Select item 160933	GRCh38/hg38 3q29(chr3:196013486-197590232)x3	BDH1, CEP19 +107 more	Copy number gain	See cases	GPathogenic
Select item 160885	GRCh38/hg38 3q29(chr3:196013486-197590232)x1	BDH1, CEP19 +107 more	Copy number loss	See cases	GPathogenic
Select item 155627	GRCh38/hg38 3q26.1-29(chr3:166137209-198125115)x3	LOC129938260, LOC129938261 +1064 more	Copy number gain	See cases	GPathogenic
Select item 155434	GRCh38/hg38 3q29(chr3:193704605-198125115)x3	TM4SF19-DYNLT2B, TMEM44 +313 more	Copy number gain	See cases	GPathogenic
Select item 155422	GRCh38/hg38 3q29(chr3:195963356-197629463)x3	FBXO45, LINC00885 +110 more	Copy number gain	See cases	GUncertain significance
Select item 154986	GRCh38/hg38 3q29(chr3:196013486-197597912)x1	BDH1, CEP19 +107 more	Copy number loss	See cases	GPathogenic
Select item 154213	GRCh38/hg38 3q25.31-29(chr3:156118441-198125115)x3	LOC108281160, LOC108281177 +1247 more	Copy number gain	See cases	GPathogenic
Select item 153972	GRCh38/hg38 3q29(chr3:195976744-197629463)x1	BDH1, CEP19 +110 more	Copy number loss	See cases	GPathogenic
Select item 153314	GRCh38/hg38 3q29(chr3:195998419-197629463)x3	BDH1, CEP19 +108 more	Copy number gain	See cases	Gconflicting data from submitters
Select item 152467	GRCh38/hg38 3q29(chr3:196013486-197612399)x1	BDH1, CEP19 +107 more	Copy number loss	See cases	GPathogenic
Select item 152257	GRCh38/hg38 3q25.31-29(chr3:156321878-198113452)x3	ABCC5, ABCC5-AS1 +1245 more	Copy number gain	See cases	GPathogenic
Select item 150609	GRCh38/hg38 3q25.1-29(chr3:152100512-198118383)x3	LOC129938169, LOC129938170 +1318 more	Copy number gain	See cases	GPathogenic
Select item 149940	GRCh38/hg38 3q29(chr3:195955711-197597912)x1	BDH1, CEP19 +111 more	Copy number loss	See cases	GPathogenic
Select item 149685	GRCh38/hg38 3q26.32-29(chr3:176168525-198118383)x3	ZMAT3, ZNF639 +867 more	Copy number gain	See cases	GPathogenic
Select item 149576	GRCh38/hg38 3q29(chr3:196013531-197590232)x1	BDH1, CEP19 +107 more	Copy number loss	See cases	GPathogenic
Select item 149477	GRCh38/hg38 3q29(chr3:194296197-198110198)x3	ACAP2, APOD +273 more	Copy number gain	See cases	GPathogenic
Select item 148947	GRCh38/hg38 3q26.32-29(chr3:176439911-198118383)x3	LOC129938282, LOC129938283 +866 more	Copy number gain	See cases	GPathogenic
Select item 148761	GRCh38/hg38 3q29(chr3:192752937-198118383)x3	ACAP2, APOD +337 more	Copy number gain	See cases	GPathogenic
Select item 148628	GRCh38/hg38 3q29(chr3:195974291-197597912)x1	NRROS, PAK2 +109 more	Copy number loss	See cases	GPathogenic
Select item 148016	GRCh38/hg38 3q29(chr3:195711798-198110178)x3	BDH1, CEP19 +169 more	Copy number gain	See cases	GPathogenic
Select item 148012	GRCh38/hg38 3q26.2-29(chr3:168167568-198110178)x3	LOC129938077, LOC129938078 +1041 more	Copy number gain	See cases	GPathogenic
Select item 147306	GRCh38/hg38 3q29(chr3:194338534-197693741)x1	ACAP2, APOD +239 more	Copy number loss	See cases	GPathogenic
Select item 145614	GRCh38/hg38 3q13.11-29(chr3:103426882-198110178)x3	LOC115995524, LOC115995525 +2647 more	Copy number gain	See cases	GPathogenic
Select item 59986	GRCh38/hg38 3q29(chr3:196035777-197662231)x3	BDH1, CEP19 +111 more	Copy number gain	See cases	GPathogenic
Select item 59985	GRCh38/hg38 3q29(chr3:196035777-197606438)x3	BDH1, CEP19 +107 more	Copy number gain	See cases	GPathogenic
Select item 59984	GRCh38/hg38 3q29(chr3:195997494-197662231)x3	BDH1, CEP19 +111 more	Copy number gain	See cases	GPathogenic
Select item 59983	GRCh38/hg38 3q29(chr3:195972720-197658495)x3	BDH1, CEP19 +113 more	Copy number gain	See cases	GPathogenic
Select item 59982	GRCh38/hg38 3q29(chr3:195965316-197625573)x3	BDH1, CEP19 +109 more	Copy number gain	See cases	GPathogenic
Select item 59981	GRCh38/hg38 3q29(chr3:195755702-197583580)x3	LOC129938303, LOC129938304 +133 more	Copy number gain	See cases	GPathogenic
Select item 59687	GRCh38/hg38 3q29(chr3:195917073-196336765)x3	DYNLT2B, LINC00885 +41 more	Copy number gain	See cases	GUncertain significance
Select item 59686	GRCh38/hg38 3q29(chr3:195896948-198110178)x3	BDH1, CEP19 +155 more	Copy number gain	See cases	GUncertain significance
Select item 59685	GRCh38/hg38 3q29(chr3:195711798-197976152)x3	LOC129938284, LOC129938285 +166 more	Copy number gain	See cases	GUncertain significance
Select item 59289	GRCh38/hg38 3q29(chr3:196035777-197625573)x1	BDH1, CEP19 +107 more	Copy number loss	See cases	GPathogenic
Select item 59288	GRCh38/hg38 3q29(chr3:196035777-197658540)x1	BDH1, CEP19 +111 more	Copy number loss	See cases	GPathogenic
Select item 58000	GRCh38/hg38 3q29(chr3:194424496-198168758)x3	RUBCN, SENP5 +264 more	Copy number gain	See cases	GPathogenic
Select item 57998	GRCh38/hg38 3q28-29(chr3:190667663-198110178)x3	LOC126806930, LOC126806931 +375 more	Copy number gain	See cases	GPathogenic
Select item 57997	GRCh38/hg38 3q28-29(chr3:189265371-198110178)x3	ACAP2, APOD +411 more	Copy number gain	See cases	GPathogenic
Select item 57984	GRCh38/hg38 3q25.31-29(chr3:157293378-198134727)x3	LOC132088897, LOC132088898 +1201 more	Copy number gain	See cases	GPathogenic
Select item 57983	GRCh38/hg38 3q24-29(chr3:147521892-198096565)x3	LOC123453201, LOC123453202 +1450 more	Copy number gain	See cases	GPathogenic

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