"Ambry Genetics"[submitter] AND "SUMF2"[gene] - ClinVar

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

Search results

Items: 56

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2405581	NM_001130069.2(SUMF2):c.10C>T (p.His4Tyr)	SUMF2 (H4Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2543183	NM_001130069.2(SUMF2):c.29G>A (p.Gly10Glu)	SUMF2 (G10E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2219379	NM_015411.4(SUMF2):c.-12G>T	SUMF2	Single nucleotide variant (5 prime UTR variant)	Inborn genetic diseases	GUncertain significance
Select item 2350047	NM_015411.4(SUMF2):c.7C>T (p.Arg3Trp)	SUMF2 (R3W)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2362344	NM_015411.4(SUMF2):c.11A>C (p.His4Pro)	SUMF2 (H4P)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2616240	NM_015411.4(SUMF2):c.57G>C (p.Trp19Cys)	SUMF2 (W19C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2264932	NM_015411.4(SUMF2):c.170C>T (p.Ala57Val)	SUMF2 (A57V)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GLikely benign
Select item 2326112	NM_015411.4(SUMF2):c.202C>T (p.Pro68Ser)	SUMF2 (P68S)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2550974	NM_015411.4(SUMF2):c.209C>A (p.Thr70Asn)	SUMF2 (T70N)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2389408	NM_015411.4(SUMF2):c.254C>A (p.Thr85Lys)	SUMF2 (T85K +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2589624	NM_015411.4(SUMF2):c.412G>A (p.Glu138Lys)	SUMF2 (E123K +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2394401	NM_015411.4(SUMF2):c.424C>T (p.His142Tyr)	SUMF2 (H127Y +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2483698	NM_015411.4(SUMF2):c.428C>T (p.Pro143Leu)	SUMF2 (P146L +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2288058	NM_015411.4(SUMF2):c.476G>A (p.Arg159Gln)	SUMF2 (R159Q +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2285912	NM_015411.4(SUMF2):c.501A>C (p.Glu167Asp)	SUMF2 (E170D +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2457860	NM_015411.4(SUMF2):c.521G>A (p.Arg174Gln)	SUMF2 (R86Q +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2461131	NM_015411.4(SUMF2):c.550T>C (p.Trp184Arg)	SUMF2 (W169R +3 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2256652	NM_015411.4(SUMF2):c.581A>C (p.Asn194Thr)	SUMF2 (N197T +3 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2224288	NM_015411.4(SUMF2):c.601C>G (p.Pro201Ala)	SUMF2 (P204A +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2295220	NM_015411.4(SUMF2):c.608G>A (p.Gly203Glu)	SUMF2 (G188E +4 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2607482	NM_015411.4(SUMF2):c.855C>T (p.Asn285=)	SUMF2 (P310S +3 more)	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2592716	NM_015411.4(SUMF2):c.866G>A (p.Arg289His)	SUMF2 (A73T +6 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2390072	NM_015411.4(SUMF2):c.873T>C (p.Ala291=)	SUMF2 (L75P +3 more)	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2321044	NM_015411.4(SUMF2):c.876A>G (p.Ala292=)	SUMF2 (R317G +3 more)	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2226433	NM_015411.4(SUMF2):c.*6C>T	SUMF2 (P256L +3 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2408115	NM_015411.4(SUMF2):c.*45C>T	SUMF2 (S269L +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2348061	NM_015411.4(SUMF2):c.*203T>C	SUMF2 (C154R +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	SUMF2-related condition +1 more	GLikely benign
Select item 2376858	NM_006213.5(PHKG1):c.1150G>A (p.Glu384Lys)	PHKG1, SUMF2 (E384K +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2352651	NM_006213.5(PHKG1):c.1114G>A (p.Glu372Lys)	PHKG1, SUMF2 (E372K +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2293662	NM_006213.5(PHKG1):c.1063T>C (p.Tyr355His)	PHKG1, SUMF2 (Y355H +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2410794	NM_006213.5(PHKG1):c.1042G>A (p.Asp348Asn)	SUMF2, PHKG1 (D339N +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2483652	NM_006213.5(PHKG1):c.997G>A (p.Val333Ile)	PHKG1, SUMF2 (V324I +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2519464	NM_006213.5(PHKG1):c.996C>G (p.Ile332Met)	PHKG1, SUMF2 (I323M +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2256883	NM_006213.5(PHKG1):c.995T>C (p.Ile332Thr)	PHKG1, SUMF2 (I332T +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2389418	NM_006213.5(PHKG1):c.989G>A (p.Arg330Gln)	SUMF2, PHKG1 (R362Q +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2531044	NM_006213.5(PHKG1):c.968G>A (p.Arg323His)	PHKG1, SUMF2 (R323H +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2217624	NM_006213.5(PHKG1):c.967C>T (p.Arg323Cys)	PHKG1, SUMF2 (R323C +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2226075	NM_006213.5(PHKG1):c.949C>T (p.Arg317Trp)	PHKG1, SUMF2 (R317W +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2219078	NM_006213.5(PHKG1):c.934G>A (p.Val312Met)	SUMF2, PHKG1 (V303M +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2597746	NM_006213.5(PHKG1):c.905G>A (p.Arg302Gln)	PHKG1, SUMF2 (R293Q +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2322440	NM_006213.5(PHKG1):c.889C>T (p.Arg297Trp)	PHKG1, SUMF2 (R329W +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2481504	NM_006213.5(PHKG1):c.845C>G (p.Ala282Gly)	PHKG1, SUMF2 (A314G +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2382736	NM_006213.5(PHKG1):c.789C>G (p.Asp263Glu)	SUMF2, PHKG1 (D263E +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2226768	NM_006213.5(PHKG1):c.781G>A (p.Val261Met)	SUMF2, PHKG1 (V261M +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2569581	NM_006213.5(PHKG1):c.733G>A (p.Gly245Ser)	PHKG1, SUMF2 (G236S +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2268713	NM_006213.5(PHKG1):c.732C>A (p.Ser244Arg)	SUMF2, PHKG1 (S276R +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2484067	NM_006213.5(PHKG1):c.728T>C (p.Met243Thr)	PHKG1, SUMF2 (M243T +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2263697	NM_006213.5(PHKG1):c.728T>G (p.Met243Arg)	SUMF2, PHKG1 (M275R +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2278322	NM_006213.5(PHKG1):c.697C>T (p.Arg233Trp)	PHKG1, SUMF2 (R265W +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2275672	NM_006213.5(PHKG1):c.637A>G (p.Met213Val)	SUMF2, PHKG1 (M213V +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2238127	NM_006213.5(PHKG1):c.580G>A (p.Glu194Lys)	PHKG1, SUMF2 (E226K +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2267243	NM_006213.5(PHKG1):c.457C>T (p.Pro153Ser)	PHKG1, SUMF2 (P185S +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2607955	NM_006213.5(PHKG1):c.211A>C (p.Thr71Pro)	PHKG1, SUMF2 (T71P)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2352351	NM_006213.5(PHKG1):c.205G>A (p.Glu69Lys)	SUMF2, PHKG1 (E69K)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2250151	NM_006213.5(PHKG1):c.203G>A (p.Arg68Gln)	PHKG1, SUMF2 (R68Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2531051	NM_006213.5(PHKG1):c.163G>A (p.Gly55Ser)	PHKG1, SUMF2 (G55S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 56