2524[geneid] - ClinVar

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Items: 59

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59115	GRCh38/hg38 19q13.32-13.33(chr19:46658791-49050450)x3	LOC130064822, LOC130064823 +290 more	Copy number gain	See cases	GPathogenic
Select item 59116	GRCh38/hg38 19q13.33-13.43(chr19:47908540-58539965)x3	LOC130064925, LOC130064926 +1081 more	Copy number gain	See cases	GPathogenic
Select item 59117	GRCh38/hg38 19q13.33-13.43(chr19:47929575-58572206)x3	LOC130064903, LOC130064904 +1093 more	Copy number gain	See cases	GPathogenic
Select item 146386	GRCh38/hg38 19q13.33(chr19:48577651-48839042)x3	BCAT2, CA11 +45 more	Copy number gain	See cases	GUncertain significance
Select item 2336717	NM_000511.6(FUT2):c.10G>A (p.Val4Ile)	FUT2, LOC105447645 (V4I)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GLikely benign
Select item 2621709	NM_000511.6(FUT2):c.65T>C (p.Val22Ala)	FUT2, LOC105447645 (V22A)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GLikely benign
Select item 979159	NM_000511.6(FUT2):c.73A>G (p.Ile25Val)	FUT2, LOC105447645 (I25V)	Single nucleotide variant (non-coding transcript variant +1 more)	Fucosyltransferase 6 deficiency +1 more	GBenign
Select item 2325732	NM_000511.6(FUT2):c.92G>A (p.Arg31Gln)	FUT2, LOC105447645 (R31Q)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3097477	NM_000511.6(FUT2):c.212G>A (p.Arg71His)	FUT2, LOC105447645 (R71H)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2410136	NM_000511.6(FUT2):c.242C>T (p.Thr81Ile)	FUT2, LOC105447645 (T81I)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3052051	NM_000511.6(FUT2):c.243A>G (p.Thr81=)	FUT2, LOC105447645	Single nucleotide variant (non-coding transcript variant +1 more)	FUT2-related disorder	GLikely benign
Select item 2309754	NM_000511.6(FUT2):c.247T>C (p.Tyr83His)	FUT2, LOC105447645 (Y83H)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 996596	NM_000511.6(FUT2):c.249C>T (p.Tyr83=)	FUT2, LOC105447645	Single nucleotide variant (non-coding transcript variant +1 more)	Familial Otitis Media	Gconfers sensitivity
Select item 2216219	NM_000511.6(FUT2):c.297G>A (p.Met99Ile)	FUT2, LOC105447645 (M99I)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3280185	NM_000511.6(FUT2):c.308T>C (p.Leu103Pro)	FUT2, LOC105447645 (L103P)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 996597	NM_000511.6(FUT2):c.311C>T (p.Ala104Val)	FUT2, LOC105447645 (A104V)	Single nucleotide variant (non-coding transcript variant +1 more)	Familial Otitis Media	Gconfers sensitivity
Select item 996598	NM_000511.6(FUT2):c.335C>T (p.Pro112Leu)	FUT2, LOC105447645 (P112L)	Single nucleotide variant (non-coding transcript variant +1 more)	Familial Otitis Media	Gconfers sensitivity
Select item 3039160	NM_000511.6(FUT2):c.348C>T (p.Ser116=)	FUT2, LOC105447645	Single nucleotide variant (non-coding transcript variant +1 more)	FUT2-related disorder	GBenign
Select item 3097478	NM_000511.6(FUT2):c.353C>T (p.Thr118Met)	FUT2, LOC105447645 (T118M)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 1288280	NM_000511.6(FUT2):c.390C>T (p.Asn130=)	FUT2, LOC105447645	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 714890	NM_000511.6(FUT2):c.408A>G (p.Glu136=)	FUT2, LOC105447645	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 996567	NM_000511.6(FUT2):c.412C>T (p.Arg138Cys)	FUT2, LOC105447645 (R138C)	Single nucleotide variant (non-coding transcript variant +1 more)	Familial Otitis Media	Gconfers sensitivity
Select item 3097479	NM_000511.6(FUT2):c.413G>A (p.Arg138His)	FUT2, LOC105447645 (R138H)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 12946	NM_000511.6(FUT2):c.418A>T (p.Ile140Phe)	FUT2, LOC105447645 (I140F)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 2617742	NM_000511.6(FUT2):c.431A>T (p.Tyr144Phe)	FUT2, LOC105447645 (Y144F)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 724072	NM_000511.6(FUT2):c.444C>G (p.Thr148=)	FUT2, LOC105447645	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 12945	NM_000511.6(FUT2):c.461G>A (p.Trp154Ter)	FUT2, LOC105447645 (W154*)	Single nucleotide variant (non-coding transcript variant +1 more)	Vitamin b12 plasma level quantitative trait locus 1 +2 more	GBenign
Select item 3097480	NM_000511.6(FUT2):c.517C>T (p.His173Tyr)	FUT2, LOC105447645 (H173Y)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2223420	NM_000511.6(FUT2):c.523C>T (p.Arg175Trp)	FUT2, LOC105447645 (R175W)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified +1 more	GUncertain significance
Select item 2220632	NM_000511.6(FUT2):c.587T>G (p.Val196Gly)	FUT2, LOC105447645 (V196G)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 225366	NM_000511.6(FUT2):c.604C>T (p.Arg202Ter)	FUT2, LOC105447645 (R202*)	Single nucleotide variant (non-coding transcript variant +1 more)	Vitamin b12 plasma level quantitative trait locus 1	GPathogenic
Select item 2599580	NM_000511.6(FUT2):c.659G>A (p.Arg220Gln)	FUT2, LOC105447645 (R220Q)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2381435	NM_000511.6(FUT2):c.744G>C (p.Trp248Cys)	FUT2, LOC105447645 (W248C)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3097481	NM_000511.6(FUT2):c.758T>C (p.Ile253Thr)	FUT2, LOC105447645 (I253T)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2650217	NM_000511.6(FUT2):c.762C>T (p.Asp254=)	FUT2, LOC105447645	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 996599	NM_000511.6(FUT2):c.772G>A (p.Gly258Ser)	FUT2, LOC105447645 (G258S)	Single nucleotide variant (non-coding transcript variant +1 more)	Familial Otitis Media +1 more	Gconfers sensitivity; other
Select item 729703	NM_000511.6(FUT2):c.812del (p.Pro271fs)	FUT2, LOC105447645 (P271fs)	Deletion (non-coding transcript variant +1 more)	not provided	GBenign
Select item 2559775	NM_000511.6(FUT2):c.851C>G (p.Thr284Ser)	FUT2, LOC105447645 (T284S)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3097482	NM_000511.6(FUT2):c.853A>G (p.Ile285Val)	FUT2, LOC105447645 (I285V)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GLikely benign
Select item 715544	NM_000511.6(FUT2):c.882G>A (p.Trp294Ter)	FUT2, LOC105447645 (W294*)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 1050189	NM_000511.6(FUT2):c.923A>G (p.Asn308Ser)	FUT2 (N308S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2215059	NM_000511.6(FUT2):c.971C>T (p.Ala324Val)	FUT2 (A324V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 996600	NM_000511.6(FUT2):c.993A>G (p.Thr331=)	FUT2	Single nucleotide variant (synonymous variant)	Familial Otitis Media	Gconfers sensitivity
Select item 2560159	NM_000511.6(FUT2):c.994G>C (p.Gly332Arg)	FUT2 (G332R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2369673	NM_000511.6(FUT2):c.1003G>T (p.Ala335Ser)	FUT2 (A335S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2353267	NM_000511.6(FUT2):c.1003G>A (p.Ala335Thr)	FUT2 (A335T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3280186	NM_000511.6(FUT2):c.1010T>C (p.Leu337Pro)	FUT2 (L337P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062398	GRCh37/hg19 19q13.33-13.41(chr19:48905537-51614930)x3	ACP4, ADM5 +118 more	Copy number gain	not specified	GLikely pathogenic
Select item 980768	GRCh37/hg19 19q13.33-13.43(chr19:48463931-57095254)x3	PPP1R15A, PPP2R1A +308 more	Copy number gain	not provided	GPathogenic
Select item 980767	GRCh37/hg19 19q13.33(chr19:48854319-49430535)x3	BCAT2, CA11 +26 more	Copy number gain	not provided	GLikely pathogenic
Select item 972980	GRCh37/hg19 19q13.32-13.42(chr19:47939842-54626871)	GRIN2D, GRWD1 +228 more	Copy number gain	not provided	Gnot provided
Select item 816084	GRCh37/hg19 19q13.31-13.42(chr19:44738088-53621561)x3	C5AR1, C5AR2 +293 more	Copy number gain	not provided	GPathogenic
Select item 688109	GRCh37/hg19 19q13.33(chr19:48119589-49595956)x3	HSD17B14, IZUMO1 +58 more	Copy number gain	not provided	GUncertain significance
Select item 685025	GRCh37/hg19 19q11-13.33(chr19:28271106-49213832)x3	ZNF607, ZNF780A +432 more	Copy number gain	not provided	GPathogenic
Select item 564585	GRCh37/hg19 19q13.33(chr19:49169554-49388064)x3	IZUMO1, FUT2 +10 more	Copy number gain	not provided	GUncertain significance
Select item 443499	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)	PGLYRP1, PGLYRP2 +1364 more	Copy number gain	See cases	GPathogenic
Select item 443498	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3	TMC4, TMED1 +1364 more	Copy number gain	See cases	GPathogenic
Select item 394838	GRCh37/hg19 19q13.33(chr19:49185469-49206253)x1	FUT2	Copy number loss	See cases	GBenign
Select item 12947	NG_007511.1:g.6141_16535del	FUT2	Deletion	BOMBAY PHENOTYPE, DIGENIC	GPathogenic

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Items: 59