ClinVar for Gene (Select 116211) - 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 3242309	GRCh37/hg19 3q29(chr3:195106447-197846145)x3	ACAP2, APOD +33 more	Copy number gain	not provided	GPathogenic
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 3148910	GRCh37/hg19 3q26.33-29(chr3:179313373-197851444)x3	ABCC5, ABCF3 +136 more	Copy number gain	See cases	GPathogenic
Select item 3148878	GRCh37/hg19 3q29(chr3:195739427-197340833)x1	BDH1, CEP19 +19 more	Copy number loss	not provided	GPathogenic
Select item 3062683	GRCh37/hg19 3q29(chr3:195792450-196145838)x3	DYNLT2B, PCYT1A +5 more	Copy number gain	not specified	GUncertain significance
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 2671619	Single allele	ABCC5, ABCF3 +145 more	Duplication	not provided	GPathogenic
Select item 2671595	Single allele	MUC20, MUC4 +286 more	Duplication	not provided	GPathogenic
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 2445506	NC_000003.11:g.(?_195591052)_(197682644_?)dup	BDH1, CEP19 +26 more	Duplication	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 1809243	GRCh37/hg19 3q29(chr3:195790857-196543483)x1	CEP19, DYNLT2B +13 more	Copy number loss	not provided	GUncertain significance
Select item 1808666	GRCh37/hg19 3q29(chr3:195690228-197356334)x1	BDH1, CEP19 +19 more	Copy number loss	not provided	GPathogenic
Select item 1707630	GRCh37/hg19 3q26.31-29(chr3:171558472-197871052)x3	CCDC50, MELTF +155 more	Copy number gain	Isolated anorectal malformation	GLikely pathogenic
Select item 1707428	GRCh37/hg19 3q27.1-29(chr3:183498520-197851986)x3	ABCC5, ABCF3 +118 more	Copy number gain	See cases	GPathogenic
Select item 1703655	GRCh37/hg19 3q29(chr3:195703615-197386180)	BDH1, CEP19 +19 more	Copy number loss	Chromosome 3q29 microdeletion syndrome	GPathogenic
Select item 1679598	Single allele	CEP19, DLG1 +114 more	Deletion	Chromosome 3q29 microdeletion syndrome	GPathogenic
Select item 1340723	GRCh37/hg19 3q29(chr3:195914129-196804639)x1	CEP19, DLG1 +17 more	Copy number loss	not provided	GPathogenic
Select item 1340518	GRCh37/hg19 3q29(chr3:195993691-197851986)x3	BDH1, CEP19 +22 more	Copy number gain	not provided	GUncertain significance
Select item 1330171	GRCh37/hg19 3q29(chr3:194790394-197961930)x3	ACAP2, APOD +35 more	Copy number gain	Chromosome 3q29 microdeletion syndrome	GUncertain significance
Select item 1328450	GRCh37/hg19 3q28-29(chr3:191866466-197842171)x1	ACAP2, APOD +48 more	Copy number loss	not provided	GPathogenic
Select item 1326307	GRCh37/hg19 3q28-29(chr3:189608636-197532175)x1	OPA1, OSTN +56 more	Copy number loss	3q28q29 deletion syndrome	GPathogenic
Select item 1172568	GRCh37/hg19 3q29(chr3:195693872-197376871)x3	BDH1, CEP19 +19 more	Copy number gain	See cases	Grisk factor
Select item 1015396	NC_000003.11:g.(?_195754030)_(196438852_?)dup	CEP19, DYNLT2B +11 more	Duplication	not provided	GUncertain significance
Select item 997056	GRCh37/hg19 3q29(chr3:195419168-197387258)	UBXN7, BDH1 +24 more	Copy number gain	Delayed speech and language development +1 more	GPathogenic
Select item 997046	GRCh37/hg19 3q29(chr3:195747856-197387258)	SENP5, SLC51A +19 more	Copy number gain	Motor delay +1 more	GPathogenic
Select item 988913	GRCh37/hg19 3q29(chr3:194498718-196196789)x1	ACAP2, APOD +15 more	Copy number loss	not provided	GUncertain significance
Select item 980659	GRCh37/hg19 3q29(chr3:196015911-196074214)x1	DYNLT2B, TM4SF19	Copy number loss	not provided	GUncertain significance
Select item 980655	GRCh37/hg19 3q29(chr3:195068028-197851986)x3	DLG1, PPP1R2 +33 more	Copy number gain	not provided	GPathogenic
Select item 816511	GRCh37/hg19 3q29(chr3:195652973-197346971)x1	BDH1, WDR53 +19 more	Copy number loss	See cases	GPathogenic
Select item 814512	GRCh37/hg19 3q29(chr3:195848341-196426606)x3	UBXN7, ZDHHC19 +9 more	Copy number gain	not provided	GUncertain significance
Select item 814511	GRCh37/hg19 3q29(chr3:195796048-196145269)x3	DYNLT2B, PCYT1A +5 more	Copy number gain	not provided	GUncertain significance
Select item 688052	GRCh37/hg19 3q29(chr3:196016339-196198346)x3	DYNLT2B, RNF168 +2 more	Copy number gain	not provided	GUncertain significance
Select item 687286	GRCh37/hg19 3q29(chr3:195573221-196124278)x3	DYNLT2B, PCYT1A +7 more	Copy number gain	not provided	GUncertain significance
Select item 686190	GRCh37/hg19 3q29(chr3:195700698-197386180)x3	BDH1, CEP19 +19 more	Copy number gain	not provided	GPathogenic
Select item 686054	GRCh37/hg19 3q29(chr3:195701149-197348561)x3	BDH1, CEP19 +19 more	Copy number gain	not provided	GPathogenic
Select item 638098	GRCh37/hg19 3q28-29(chr3:188386566-197838262)x3	GMNC, GP5 +62 more	Copy number gain	See cases	GPathogenic
Select item 562869	GRCh37/hg19 3q29(chr3:195891339-196137752)x1	TM4SF19, ZDHHC19 +4 more	Copy number loss	not provided	GUncertain significance
Select item 562868	GRCh37/hg19 3q29(chr3:195725290-197356334)x3	RNF168, NRROS +19 more	Copy number gain	not provided	GPathogenic
Select item 562867	GRCh37/hg19 3q29(chr3:195725290-197339848)x3	DYNLT2B, MELTF +19 more	Copy number gain	not provided	GPathogenic
Select item 562866	GRCh37/hg19 3q29(chr3:195725290-197015654)x1	SLC51A, PCYT1A +18 more	Copy number loss	not provided	GPathogenic
Select item 562865	GRCh37/hg19 3q29(chr3:195703615-197356334)x3	CEP19, DLG1 +19 more	Copy number gain	not provided	GPathogenic
Select item 562864	GRCh37/hg19 3q29(chr3:195703615-197348575)x1	SENP5, SLC51A +19 more	Copy number loss	not provided	GPathogenic
Select item 562857	GRCh37/hg19 3q28-29(chr3:191593619-197851986)x3	MB21D2, MUC4 +48 more	Copy number gain	not provided	GPathogenic
Select item 562855	GRCh37/hg19 3q28-29(chr3:187913567-197851986)x3	TMEM44, GP5 +62 more	Copy number gain	not provided	GPathogenic
Select item 562852	GRCh37/hg19 3q27.3-29(chr3:186374365-197851986)x3	PCYT1A, TNK2-AS1 +77 more	Copy number gain	not provided	GPathogenic
Select item 562850	GRCh37/hg19 3q27.1-29(chr3:184003967-197851986)x3	FYTTD1, FAM43A +103 more	Copy number gain	not provided	GPathogenic
Select item 562847	GRCh37/hg19 3q26.33-29(chr3:182539234-197851986)x3	PPP1R2, TBCCD1 +126 more	Copy number gain	not provided	GPathogenic
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 523280	GRCh37/hg19 3q29(chr3:195457650-196263123)	DYNLT2B, MUC20 +11 more	Copy number loss	Autism +1 more	GUncertain significance
Select item 443988	GRCh37/hg19 3q29(chr3:195690227-197356334)x1	BDH1, CEP19 +19 more	Copy number loss	See cases	GPathogenic
Select item 443479	GRCh37/hg19 3q29(chr3:195677309-197356334)x3	BDH1, CEP19 +19 more	Copy number gain	See cases	GUncertain significance
Select item 443234	GRCh37/hg19 3q29(chr3:195725290-197344176)x1	BDH1, CEP19 +19 more	Copy number loss	See cases	GPathogenic
Select item 442401	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3	HHLA2, HIGD1A +1054 more	Copy number gain	See cases	GPathogenic
Select item 442400	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)	A4GNT, AADAC +1054 more	Copy number gain	See cases	GPathogenic
Select item 442134	GRCh37/hg19 3q29(chr3:195456034-197356334)x3	BDH1, CEP19 +23 more	Copy number gain	See cases	GUncertain significance
Select item 395332	GRCh37/hg19 3q29(chr3:195997397-196053790)x3	DYNLT2B, PCYT1A +1 more	Copy number gain	See cases	GLikely benign
Select item 395106	GRCh37/hg19 3q29(chr3:196051182-196129686)x3	TM4SF19, UBXN7	Copy number gain	See cases	GLikely benign
Select item 394282	GRCh37/hg19 3q29(chr3:195780280-196264407)x3	DYNLT2B, PCYT1A +7 more	Copy number gain	See cases	GPathogenic
Select item 394253	GRCh37/hg19 3q29(chr3:195780280-197299752)x1	BDH1, CEP19 +19 more	Copy number loss	See cases	GPathogenic
Select item 393885	GRCh37/hg19 3q25.32-29(chr3:158980631-197766890)x3	ABCC5, ABCF3 +198 more	Copy number gain	See cases	GPathogenic
Select item 267260	GRCh37/hg19 3q29(chr3:195756054-197344665)x1	DYNLT2B, FBXO45 +19 more	Copy number loss	Chromosome 3q29 microdeletion syndrome	GPathogenic
Select item 253577	GRCh37/hg19 3q29(chr3:195690241-197299811)x1	NRROS, SENP5 +19 more	Copy number loss	See cases	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

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