ClinVar for Gene (Select 25870) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3347633	NM_015411.2(SUMF2):c.-3T>C	SUMF2	Single nucleotide variant	SUMF2-related disorder	GLikely benign
Select item 3323629	NM_015411.4(SUMF2):c.*174G>T	SUMF2 (S312I +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3323628	NM_015411.4(SUMF2):c.*170C>T	SUMF2 (L311F +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3323627	NM_015411.4(SUMF2):c.279C>G (p.Ser93Arg)	SUMF2 (S93R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3323626	NM_015411.4(SUMF2):c.110G>C (p.Arg37Thr)	SUMF2 (R37T)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3323625	NM_001130069.2(SUMF2):c.25C>A (p.Arg9Ser)	SUMF2 (R9S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3323624	NM_015411.4(SUMF2):c.193G>A (p.Asp65Asn)	SUMF2 (D65N)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3323623	NM_015411.4(SUMF2):c.886C>T (p.Arg296Trp)	SUMF2 (P335L +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3323622	NM_015411.4(SUMF2):c.632A>G (p.His211Arg)	SUMF2 (H123R +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3306195	NM_006213.5(PHKG1):c.734G>T (p.Gly245Val)	PHKG1, SUMF2 (G245V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3306194	NM_006213.5(PHKG1):c.1021C>T (p.Arg341Trp)	PHKG1, SUMF2 (R332W +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3306193	NM_006213.5(PHKG1):c.853C>T (p.His285Tyr)	PHKG1, SUMF2 (H285Y +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3306192	NM_006213.5(PHKG1):c.530C>G (p.Pro177Arg)	PHKG1, SUMF2 (P168R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3306190	NM_006213.5(PHKG1):c.1004G>A (p.Arg335Gln)	PHKG1, SUMF2 (R326Q +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3306189	NM_006213.5(PHKG1):c.1031G>A (p.Arg344His)	PHKG1, SUMF2 (R335H +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3306187	NM_006213.5(PHKG1):c.904C>T (p.Arg302Trp)	PHKG1, SUMF2 (R302W +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3306186	NM_006213.5(PHKG1):c.311T>C (p.Phe104Ser)	PHKG1, SUMF2 (F104S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3212255	NM_006213.5(PHKG1):c.970C>T (p.Arg324Trp)	PHKG1, SUMF2 (R315W +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3212254	NM_006213.5(PHKG1):c.836C>T (p.Ala279Val)	PHKG1, SUMF2 (A270V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3212253	NM_006213.5(PHKG1):c.797C>T (p.Ser266Phe)	PHKG1, SUMF2 (S266F +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3212252	NM_006213.5(PHKG1):c.685C>T (p.Pro229Ser)	PHKG1, SUMF2 (P220S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3212251	NM_006213.5(PHKG1):c.293C>G (p.Thr98Ser)	PHKG1, SUMF2 (T89S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3212250	NM_006213.5(PHKG1):c.272A>G (p.Lys91Arg)	PHKG1, SUMF2 (K91R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3212249	NM_006213.5(PHKG1):c.248G>A (p.Gly83Glu)	PHKG1, SUMF2 (G83E)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3212248	NM_006213.5(PHKG1):c.194G>A (p.Arg65Gln)	PHKG1, SUMF2 (R65Q)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3212247	NM_006213.5(PHKG1):c.1099C>T (p.Arg367Trp)	PHKG1, SUMF2 (R358W +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3212246	NM_006213.5(PHKG1):c.1033C>T (p.Arg345Trp)	PHKG1, SUMF2 (R336W +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3172105	NM_015411.4(SUMF2):c.35T>C (p.Leu12Pro)	SUMF2 (L12P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3172104	NM_015411.4(SUMF2):c.*106G>T	SUMF2 (K121N +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3172103	NM_015411.4(SUMF2):c.32T>G (p.Leu11Arg)	SUMF2 (L11R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3172102	NM_015411.4(SUMF2):c.28C>G (p.Pro10Ala)	SUMF2 (P10A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3172100	NM_015411.4(SUMF2):c.611A>G (p.Asp204Gly)	SUMF2 (D204G +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3172098	NM_015411.4(SUMF2):c.323C>T (p.Ala108Val)	SUMF2 (A111V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3172097	NM_015411.4(SUMF2):c.47T>C (p.Val16Ala)	SUMF2 (V16A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3172096	NM_015411.4(SUMF2):c.*227C>G	SUMF2 (Q162E +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3060574	NM_015411.4(SUMF2):c.822-484G>A	SUMF2	Single nucleotide variant (intron variant)	SUMF2-related disorder	GBenign
Select item 3056694	NM_015411.2(SUMF2):c.9G>T (p.Ala3=)	SUMF2	Single nucleotide variant (synonymous variant)	SUMF2-related disorder	GLikely benign
Select item 3049389	NM_015411.4(SUMF2):c.635G>C (p.Gly212Ala)	SUMF2 (G124A +4 more)	Single nucleotide variant (missense variant +1 more)	SUMF2-related disorder	GLikely benign
Select item 3039385	NM_015411.4(SUMF2):c.822-506A>G	SUMF2 (K293E +1 more)	Single nucleotide variant (missense variant +1 more)	SUMF2-related disorder	GBenign
Select item 3037599	NM_015411.4(SUMF2):c.821+433G>T	SUMF2 (G266C +1 more)	Single nucleotide variant (missense variant +1 more)	SUMF2-related disorder	GBenign
Select item 2684487	GRCh37/hg19 7p11.2-11.1(chr7:55498635-58025873)x3	CCT6A, CHCHD2 +12 more	Copy number gain	not provided	GUncertain significance
Select item 2616240	NM_015411.4(SUMF2):c.57G>C (p.Trp19Cys)	SUMF2 (W19C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2607955	NM_006213.5(PHKG1):c.211A>C (p.Thr71Pro)	PHKG1, SUMF2 (T71P)	Single nucleotide variant (missense variant +1 more)	not specified	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)	not specified	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)	not specified	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)	not specified	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)	not specified	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)	not specified	GUncertain significance
Select item 2550974	NM_015411.4(SUMF2):c.209C>A (p.Thr70Asn)	SUMF2 (T70N)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2543183	NM_001130069.2(SUMF2):c.29G>A (p.Gly10Glu)	SUMF2 (G10E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2531051	NM_006213.5(PHKG1):c.163G>A (p.Gly55Ser)	PHKG1, SUMF2 (G55S)	Single nucleotide variant (missense variant +1 more)	not specified	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)	not specified	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)	not specified	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)	not specified	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)	not specified	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)	not specified	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)	not specified	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)	not specified	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)	not specified	GUncertain significance
Select item 2410794	NM_006213.5(PHKG1):c.1042G>A (p.Asp348Asn)	PHKG1, SUMF2 (D339N +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2408115	NM_015411.4(SUMF2):c.*45C>T	SUMF2 (S269L +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2405581	NM_001130069.2(SUMF2):c.10C>T (p.His4Tyr)	SUMF2 (H4Y)	Single nucleotide variant (missense variant)	not specified	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)	not specified	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)	not specified	GUncertain significance
Select item 2389418	NM_006213.5(PHKG1):c.989G>A (p.Arg330Gln)	PHKG1, SUMF2 (R362Q +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	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)	not specified	GUncertain significance
Select item 2382736	NM_006213.5(PHKG1):c.789C>G (p.Asp263Glu)	PHKG1, SUMF2 (D263E +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2376858	NM_006213.5(PHKG1):c.1150G>A (p.Glu384Lys)	PHKG1, SUMF2 (E384K +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2362344	NM_015411.4(SUMF2):c.11A>C (p.His4Pro)	SUMF2 (H4P)	Single nucleotide variant (missense variant +1 more)	not specified	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)	not specified	GUncertain significance
Select item 2352351	NM_006213.5(PHKG1):c.205G>A (p.Glu69Lys)	PHKG1, SUMF2 (E69K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2350047	NM_015411.4(SUMF2):c.7C>T (p.Arg3Trp)	SUMF2 (R3W)	Single nucleotide variant (missense variant +1 more)	not specified	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)	not specified	GLikely benign
Select item 2326112	NM_015411.4(SUMF2):c.202C>T (p.Pro68Ser)	SUMF2 (P68S)	Single nucleotide variant (missense variant +2 more)	not specified	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)	not specified	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)	not specified	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)	not specified	GUncertain significance
Select item 2293662	NM_006213.5(PHKG1):c.1063T>C (p.Tyr355His)	PHKG1, SUMF2 (Y355H +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	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)	not specified	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)	not specified	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)	not specified	GUncertain significance
Select item 2275672	NM_006213.5(PHKG1):c.637A>G (p.Met213Val)	PHKG1, SUMF2 (M213V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2268713	NM_006213.5(PHKG1):c.732C>A (p.Ser244Arg)	PHKG1, SUMF2 (S276R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	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)	not specified	GUncertain significance
Select item 2264932	NM_015411.4(SUMF2):c.170C>T (p.Ala57Val)	SUMF2 (A57V)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 2263697	NM_006213.5(PHKG1):c.728T>G (p.Met243Arg)	PHKG1, SUMF2 (M275R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	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)	not specified	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)	not specified	GUncertain significance
Select item 2250151	NM_006213.5(PHKG1):c.203G>A (p.Arg68Gln)	PHKG1, SUMF2 (R68Q)	Single nucleotide variant (missense variant +1 more)	not specified	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)	not specified	GUncertain significance
Select item 2226768	NM_006213.5(PHKG1):c.781G>A (p.Val261Met)	PHKG1, SUMF2 (V261M +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	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)	not specified	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)	not specified	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)	not specified	GUncertain significance
Select item 2219379	NM_015411.4(SUMF2):c.-12G>T	SUMF2	Single nucleotide variant (5 prime UTR variant)	not specified	GUncertain significance
Select item 2219078	NM_006213.5(PHKG1):c.934G>A (p.Val312Met)	PHKG1, SUMF2 (V303M +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	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)	not specified	GUncertain significance
Select item 1809442	GRCh37/hg19 7p12.1-11.2(chr7:53991820-56148011)x3	CCT6A, EGFR +12 more	Copy number gain	not provided	GUncertain significance
Select item 1708459	GRCh37/hg19 7p22.3-q36.3(chr7:56604613-96692931)x1	AASS, ABCA13 +896 more	Copy number loss	See cases	GUncertain significance
Select item 1703560	Single allele	CACNA2D1, CADPS2 +896 more	Complex	Ring chromosome 7	GPathogenic

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