FYTTD1[gene] - ClinVar

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Items: 76

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 145614	GRCh38/hg38 3q13.11-29(chr3:103426882-198110178)x3	LOC115995524, LOC115995525 +2647 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
Select item 150609	GRCh38/hg38 3q25.1-29(chr3:152100512-198118383)x3	LOC129938169, LOC129938170 +1318 more	Copy number gain	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 152257	GRCh38/hg38 3q25.31-29(chr3:156321878-198113452)x3	ABCC5, ABCC5-AS1 +1245 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 155627	GRCh38/hg38 3q26.1-29(chr3:166137209-198125115)x3	LOC129938260, LOC129938261 +1064 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 149685	GRCh38/hg38 3q26.32-29(chr3:176168525-198118383)x3	ZMAT3, ZNF639 +867 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 57868	GRCh38/hg38 3q27.2-29(chr3:185485849-198110178)x1	MIR944, MUC20 +557 more	Copy number loss	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 57998	GRCh38/hg38 3q28-29(chr3:190667663-198110178)x3	LOC126806930, LOC126806931 +375 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 155434	GRCh38/hg38 3q29(chr3:193704605-198125115)x3	TM4SF19-DYNLT2B, TMEM44 +313 more	Copy number gain	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 58000	GRCh38/hg38 3q29(chr3:194424496-198168758)x3	RUBCN, SENP5 +264 more	Copy number gain	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 59685	GRCh38/hg38 3q29(chr3:195711798-197976152)x3	LOC129938284, LOC129938285 +166 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 153416	GRCh38/hg38 3q29(chr3:196418334-198125115)x3	BDH1, CEP19 +102 more	Copy number gain	See cases	GUncertain significance
Select item 149972	GRCh38/hg38 3q29(chr3:196812829-197938552)x3	BDH1, DLG1 +62 more	Copy number gain	See cases	GUncertain significance
Select item 59689	GRCh38/hg38 3q29(chr3:197511726-197833102)x3	BDH1, FYTTD1 +21 more	Copy number gain	See cases	GUncertain significance
Select item 2579209	GRCh38/hg38 3q29(chr3:197681032-198111976)x1	FYTTD1, IQCG +27 more	Copy number loss	Diamond-Blackfan anemia 5	GPathogenic
Select item 2604612	NM_032288.7(FYTTD1):c.56C>G (p.Pro19Arg)	FYTTD1 (P19R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2461316	NM_032288.7(FYTTD1):c.62C>A (p.Ala21Asp)	FYTTD1 (A21D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2337195	NM_032288.7(FYTTD1):c.130G>A (p.Glu44Lys)	FYTTD1 (E44K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3097638	NM_032288.7(FYTTD1):c.214T>C (p.Trp72Arg)	FYTTD1 (W72R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3097639	NM_032288.7(FYTTD1):c.216G>C (p.Trp72Cys)	FYTTD1 (W46C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2479095	NM_032288.7(FYTTD1):c.297T>G (p.Asn99Lys)	FYTTD1 (N99K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2387846	NM_032288.7(FYTTD1):c.544C>A (p.His182Asn)	FYTTD1 (H156N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3097640	NM_032288.7(FYTTD1):c.584G>A (p.Arg195Lys)	FYTTD1 (R195K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2300445	NM_032288.7(FYTTD1):c.641C>G (p.Ala214Gly)	FYTTD1 (A188G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2346103	NM_032288.7(FYTTD1):c.687T>G (p.Ile229Met)	FYTTD1 (I203M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3280274	NM_032288.7(FYTTD1):c.725G>A (p.Cys242Tyr)	FYTTD1 (C216Y +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2510228	NM_032288.7(FYTTD1):c.727C>T (p.Pro243Ser)	FYTTD1 (P243S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3280273	NM_032288.7(FYTTD1):c.754C>T (p.Arg252Cys)	FYTTD1 (R226C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2622390	NM_032288.7(FYTTD1):c.838A>G (p.Ile280Val)	FYTTD1 (I254V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2457913	NM_032288.7(FYTTD1):c.934A>G (p.Ser312Gly)	FYTTD1 (S312G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 152457	GRCh38/hg38 3q29(chr3:197786508-197876465)x3	FYTTD1, LOC126806937 +5 more	Copy number gain	See cases	GBenign
Select item 3246899	NC_000003.11:g.(?_197401889)_(197682644_?)del	FYTTD1, IQCG +3 more	Deletion	Diamond-Blackfan anemia 5	GPathogenic
Select item 3242309	GRCh37/hg19 3q29(chr3:195106447-197846145)x3	ACAP2, APOD +33 more	Copy number gain	not provided	GPathogenic
Select item 3148910	GRCh37/hg19 3q26.33-29(chr3:179313373-197851444)x3	ABCC5, ABCF3 +136 more	Copy number gain	See cases	GPathogenic
Select item 3062702	GRCh37/hg19 3q29(chr3:196657995-197656512)x1	BDH1, DLG1 +8 more	Copy number loss	not specified	GUncertain significance
Select item 2685951	GRCh37/hg19 3q29(chr3:196190723-197605588)x3	BDH1, CEP19 +15 more	Copy number gain	not provided	GPathogenic
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 2445506	NC_000003.11:g.(?_195591052)_(197682644_?)dup	BDH1, CEP19 +26 more	Duplication	not provided	GUncertain significance
Select item 1808419	GRCh37/hg19 3q29(chr3:197185584-197672964)x3	BDH1, FYTTD1 +3 more	Copy number gain	not provided	GUncertain significance
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 1340641	GRCh37/hg19 3q29(chr3:197386180-197532716)x1	FYTTD1, LRCH3 +1 more	Copy number loss	not provided	GUncertain significance
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 980658	GRCh37/hg19 3q29(chr3:197401121-197563460)x3	LRCH3, RUBCN +1 more	Copy number gain	not provided	GUncertain significance
Select item 980657	GRCh37/hg19 3q29(chr3:196552734-197498996)x3	RUBCN, BDH1 +7 more	Copy number gain	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 980561	GRCh37/hg19 3q29(chr3:197075198-197591280)x3	FYTTD1, BDH1 +2 more	Copy number gain	not provided	GLikely benign
Select item 980560	GRCh37/hg19 3q29(chr3:197307386-197851986)x3	FYTTD1, LMLN +4 more	Copy number gain	not provided	GLikely benign
Select item 814515	GRCh37/hg19 3q29(chr3:197328504-197563460)x3	RUBCN, FYTTD1 +1 more	Copy number gain	not provided	GUncertain significance
Select item 689140	GRCh37/hg19 3q29(chr3:197312832-197851986)x3	FYTTD1, IQCG +4 more	Copy number gain	not provided	GUncertain significance
Select item 688725	GRCh37/hg19 3q29(chr3:197386179-197851986)x3	FYTTD1, IQCG +4 more	Copy number gain	not provided	GUncertain significance
Select item 638098	GRCh37/hg19 3q28-29(chr3:188386566-197838262)x3	GMNC, GP5 +62 more	Copy number gain	See cases	GPathogenic
Select item 562873	GRCh37/hg19 3q29(chr3:197263782-197550798)x3	LRCH3, RUBCN +2 more	Copy number gain	not provided	GLikely benign
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 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 393885	GRCh37/hg19 3q25.32-29(chr3:158980631-197766890)x3	ABCC5, ABCF3 +198 more	Copy number gain	See cases	GPathogenic
Select item 253357	GRCh37/hg19 3q29(chr3:196281672-197681798)x3	PAK2, PIGZ +15 more	Copy number gain	See cases	GLikely pathogenic
Select item 219039	GRCh37/hg19 3q29(chr3:197127599-197771083)x3	BDH1, FYTTD1 +5 more	Copy number gain	See cases	GUncertain significance

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Items: 76